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Boli A-Z 10q22.3q23.3 Microduplication Syndrome 10q22.3q23 Microdeletion Syndrome 11p15.4 Microduplication Syndrome 11q22.2q22.3 Microdeletion Syndrome 12q14 Microdeletion Syndrome 12q15q21.1 Microdeletion Syndrome 13q12.3 Microdeletion Syndrome 14q11.2 Microduplication Syndrome 14q12 Microdeletion Syndrome 14q24.1q24.3 Microdeletion Syndrome 15q13.3 Microduplication Syndrome 16p11.2 Deletion Syndrome 16p11.2 Duplication 16p11.2p12.2 Microduplication Syndrome 16p12.1p12.3 Triplication Syndrome 16p13.11 Microdeletion Syndrome 16p13.11 Microduplication Syndrome 16p13.2 Microdeletion Syndrome 16q24.1 Microdeletion Syndrome 16q24.3 Microdeletion Syndrome 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 17q12 Deletion Syndrome 17q12 Duplication 17q12 Recurrent Deletion Syndrome 19p13.12 Microdeletion Syndrome 1p21.3 Microdeletion Syndrome 1p35.2 Microdeletion Syndrome 1q44 Microdeletion Syndrome 1q Duplications 20p12.3 Microdeletion Syndrome 20p13 Microdeletion Syndrome 20q11.2 Microdeletion Syndrome 20q11.2 Microduplication Syndrome 20q13.33 Microdeletion Syndrome 21q22.11q22.12 Microdeletion Syndrome 2,4-Dienoyl-Coa Reductase Deficiency 2-Aminoadipic 2-Oxoadipic Aciduria 2-Hydroxyethyl Methacrylate Sensitization 2-Hydroxyglutaric Aciduria 2-Methyl-3-Hydroxybutyric Aciduria 2-Methylacetoacetyl Coa Thiolase Deficiency 2-Methylbutyryl-Coa Dehydrogenase Deficiency 2p13.2 Microdeletion Syndrome 2p21 Microdeletion Syndrome Without Cystinuria 2q23.1 Microduplication Syndrome 2q31.1 Microdeletion Syndrome 2q31.1 Microduplication Syndrome 2q37 Deletion Syndrome 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency 3 Alpha Methylcrotonyl-Coa Carboxylase 2 Deficiency 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 3-Hydroxyisobutyric Aciduria 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 3mc Syndrome 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 3-Methylcrotonyl-Coa Carboxylase Deficiency 3-Methylglutaconic Aciduria 3-Methylglutaconic Aciduria, Type I 3-Methylglutaconic Aciduria, Type Iii 3-Methylglutaconic Aciduria, Type Iv 3-Methylglutaconic Aciduria, Type Ix 3-Methylglutaconic Aciduria, Type V 3-Methylglutaconic Aciduria, Type Viii 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 3p25.3 Microdeletion Syndrome 3q26 Microduplication Syndrome 3q26q27 Microdeletion Syndrome 3q27.3 Microdeletion Syndrome 45,x/46,xy Mixed Gonadal Dysgenesis 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 46 Xx Gonadal Dysgenesis 46,xx Gonadal Dysgenesis Epibulbar Dermoid 46,xx Sex Reversal 1 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 46, Xy Disorders of Sexual Development 46 Xy Gonadal Dysgenesis 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 46,xy Ovotesticular Disorder of Sex Development 46,xy Partial Gonadal Dysgenesis 46,xy Sex Reversal 2 46,xy Sex Reversal 8 47, Xxy 47,xyy 48,xxxy Syndrome 48,xxyy Syndrome 48,xyyy 49, Xxxxx 49,xxxxy Syndrome 49, Xxxyy Syndrome 49,xyyyy Syndrome 4-Hydroxyphenylacetic Aciduria 4p16.3 Microduplication Syndrome 5-Alpha Reductase Deficiency 5-Fluorouracil Poisoning 5-Nucleotidase Syndrome 5-Oxoprolinase Deficiency 5q14.3 Microdeletion Syndrome 5q31.3 Microdeletion Syndrome 5q35 Microduplication Syndrome 6p22 Microdeletion Syndrome 6-Phosphogluconate Dehydrogenase Deficiency 6q16 Deletion Syndrome 6q Terminal Deletion Syndrome 7p22.1 Microduplication Syndrome 7q11.23 Duplication Syndrome 7q31 Microdeletion Syndrome 8p11.2 Deletion Syndrome 8p11 Myeloproliferative Syndrome 8p23.1 Duplication Syndrome 8p Inverted Duplication/deletion Syndrome 8q12 Microduplication Syndrome 9p13 Microdeletion Syndrome 9q31.1q31.3 Microdeletion Syndrome 9q33.3q34.11 Microdeletion Syndrome Aapoai Amyloidosis Aapoaii Amyloidosis Aapoaiv Amyloidosis Aarskog-Scott Syndrome Aase-Smith Syndrome I Abacavir Toxicity Abderhalden Kaufmann Lignac Syndrome Abdominal Chemodectomas with Cutaneous Angiolipomas Abdominal Cystic Lymphangioma Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 Abducens Nerve Disease Aberrant Subclavian Artery Abetalipoproteinemia Abidi X-Linked Mental Retardation Syndrome Ablepharon-Macrostomia Syndrome Abnormal Number of Coronary Ostia Abruzzo-Erickson Syndrome Absence of Fingerprints Congenital Milia Absence of Innominate Vein Absence of Septum Pellucidum Absence of the Pulmonary Artery Absence of Tibia with Polydactyly Absent Breasts and Nipples Absent Eyebrows and Eyelashes with Mental Retardation Absent Patella Acalvaria Acanthamoeba Keratitis Acanthocheilonemiasis Acanthoma Acanthosis Nigricans Acanthosis Nigricans with Muscle Cramps and Acral Enlargement Acardia Acatalasemia Accessory Mitral Valve Tissue Accessory Pancreas Accessory Tricuspid Valve Tissue Aceruloplasminemia Acetyl-Carnitine Deficiency Acetyl-Coa Acetyltransferase-2 Deficiency Achalasia Achalasia-Addisonianism-Alacrima Syndrome Achalasia, Familial Esophageal Achalasia-Microcephaly Syndrome Achard Syndrome Achard Thiers Syndrome Acheiria Acheiria, Bilateral Acheiria, Unilateral Acheiropody Achondrogenesis Achondrogenesis, Type Ia Achondrogenesis, Type Ib Achondrogenesis, Type Ii Achondroplasia Achondroplasia and Severe Combined Immunodeficiency Achondroplasia and Swiss Type Agammaglobulinemia Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans Achoo Syndrome Achromatopsia Achromatopsia 2 Achromatopsia 3 Achromatopsia 4 Achromatopsia 7 Acid-Labile Subunit Deficiency Acid Phosphatase Deficiency Acinar Cell Carcinoma Acinar Cell Carcinoma of Pancreas Acitretin Embryopathy Acitretin/etretinate Embryopathy Ackerman Syndrome Acoustic Neuroma Acquired Agranulocytosis Acquired Amegakaryocytic Thrombocytopenia Acquired Aneurysmal Subarachnoid Hemorrhage Acquired Angioedema Acquired Angioedema Type 1 Acquired Angioedema Type 2 Acquired Central Diabetes Insipidus Acquired Cutis Laxa Acquired Cystic Disease-Associated Renal Cell Carcinoma Acquired Fructose Intolerance Acquired Generalized Lipodystrophy Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease Acquired Hemophilia Acquired Hemophilia a Acquired Hypoprothrombinemia Acquired Idiopathic Sideroblastic Anemia Acquired Kinky Hair Syndrome Acquired Methemoglobinemia Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome Acquired Night Blindness Acquired Polycythemia Acquired Porencephaly Acquired Pseudoxanthoma Elasticum Acquired Pure Red Cell Aplasia Acquired Purpura Fulminans Acquired Schizencephaly Acquired Thrombocytopenia Acquired Von Willebrand Syndrome Acral Dysostosis Dyserythropoiesis Syndrome Acral Dystrophic Epidermolysis Bullosa Acral Lentiginous Melanoma Acral Persistent Papular Mucinosis Acral Self-Healing Collodion Baby Acrocallosal Syndrome Acrocapitofemoral Dysplasia Acrocephalopolydactylous Dysplasia Acrocephalopolydactyly Acrocephalopolysyndactyly Type Iii Acrocephalopolysyndactyly Type Iv Acro Coxo Mesomelic Dysplasia Acrocraniofacial Dysostosis Acrodermatitis Acrodermatitis Enteropathica, Zinc-Deficiency Type Acrodysostosis Acrodysostosis with Multiple Hormone Resistance Acrodysplasia Scoliosis Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia Acrofacial Dysostosis 1, Nager Type Acrofacial Dysostosis, Catania Type Acrofacial Dysostosis, Kennedy-Teebi Type Acrofacial Dysostosis, Palagonia Type Acrofacial Dysostosis Preis Type Acrofacial Dysostosis Syndrome of Rodriguez Acrofrontofacionasal Dysostosis Acrofrontofacionasal Dysostosis 1 Acrofrontofacionasal Dysostosis 2 Acrogeria, Gottron Type Acrokeratosis Verruciformis Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma Acromegaloid Facial Appearance Syndrome Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia Acromegaloid Hypertrichosis Syndrome Acromegaly Acromelanosis Acromelic Frontonasal Dysostosis Acromesomelic Dysplasia Acromesomelic Dysplasia Campailla Martinelli Type Acromesomelic Dysplasia, Hunter-Thompson Type Acromesomelic Dysplasia, Maroteaux Type Acromicric Dysplasia Acroosteolysis Acroosteolysis Dominant Type Acropectoral Syndrome Acropectororenal Dysplasia Acro-Pectoro-Renal Field Defect Acropectorovertebral Dysplasia Acropectorovertebral Dysplasia F Form Acrorenal-Mandibular Syndrome Acrorenal Syndrome Acrorenal Syndrome, Autosomal Recessive Acrorenal Syndrome Recessive Acrospiroma Acsl4-Related Intellectual Disability Actg2-Related Disorders Acth Deficiency, Isolated Acth-Independent Macronodular Adrenal Hyperplasia Acth-Independent Macronodular Adrenal Hyperplasia 2 Acth-Secreting Pituitary Adenoma Actinic Cheilitis Actinic Lichen Planus Actinic Prurigo Actinomycosis Acute Ackee Fruit Intoxication Acute Adrenal Insufficiency Acute Annular Outer Retinopathy Acute Articular Rheumatism Acute Basophilic Leukemia Acute Cholinergic Dysautonomia Acute Diarrhea Acute Disseminated Encephalomyelitis Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion Acute Endophthalmitis Acute Erythroid Leukemia Acute Flaccid Myelitis Acute Generalized Exanthematous Pustulosis Acute Graft Versus Host Disease Acute Hemorrhagic Leukoencephalitis Acute Interstitial Pneumonia Acute Leukemia of Ambiguous Lineage Acute Liver Failure Acute Lymphoblastic Leukemia, Childhood Acute Lymphoblastic Leukemia Congenital Sporadic Aniridia Acute Lymphocytic Leukemia Acute Macular Neuroretinopathy Acute Megakaryoblastic Leukemia in Down Syndrome Acute Megakaryoblastic Leukemia Without Down Syndrome Acute Monoblastic Leukemia Acute Motor and Sensory Axonal Neuropathy Acute Motor Axonal Neuropathy Acute Mountain Sickness Acute Myeloblastic Leukemia with Maturation Acute Myeloblastic Leukemia Without Maturation Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor Acute Myeloid Leukemia with 11q23 Abnormalities Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) Acute Myeloid Leukemia with Minimal Differentiation Acute Myeloid Leukemia with Npm1 Somatic Mutations Acute Myeloid Leukemia with Recurrent Genetic Anomaly Acute Myeloid Leukemia with T(6;9)(p23;q34) Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation Acute Myeloid Leukemia with T(9;11)(p22;q23) Acute Myocarditis Acute Necrotizing Encephalopathy Acute Necrotizing Encephalopathy Type 1 Acute Neonatal Citrullinemia Type I Acute Non Lymphoblastic Leukemia Acute Opioid Poisoning Acute Pancreatitis Acute Pandysautonomia Acute Panmyelosis with Myelofibrosis Acute Peripheral Arterial Occlusion Acute Poisoning by Drugs with Membrane-Stabilizing Effect Acute Porphyria Acute Posterior Multifocal Placoid Pigment Epitheliopathy Acute Promyelocytic Leukemia Acute Pure Sensory Neuropathy Acute Radiation Syndrome Acute Respiratory Coronavirus Infection Acute Respiratory Distress Syndrome Acute Sensory Ataxic Neuropathy Acute T Cell Leukemia Acute Transverse Myelitis Acute Tricyclic Antidepressant Poisoning Acute Zonal Occult Outer Retinopathy Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of Adactylia, Unilateral Adactyly of Foot Adactyly of Foot, Bilateral Adactyly of Foot, Unilateral Adamantinoma of Long Bones Adams-Oliver Syndrome Adams-Oliver Syndrome 1 Adams-Oliver Syndrome 2 Adams-Oliver Syndrome 3 Adams-Oliver Syndrome 4 Adams-Oliver Syndrome 5 Adams-Oliver Syndrome 6 Adcy5-Related Dyskinesia Adducted Thumbs Dundar Type Adducted Thumbs Syndrome Adenine Phosphoribosyltransferase Deficiency Adenocarcinoid Tumor Adenocarcinoma of the Gallbladder and Extrahepatic Biliary Tract Adenocarcinoma of the Liver and Intrahepatic Biliary Tract Adenocarcinoma of the Penis Adenohypophysitis Adenoid Basal Carcinoma of the Cervix Uteri Adenoid Cystic Carcinoma of the Corpus Uteri Adenoma of the Pancreas Adenomyosis Adenosarcoma of the Cervix Uteri Adenosarcoma of the Corpus Uteri Adenosarcoma of the Uterus Adenosine Deaminase 2 Deficiency Adenosine Deaminase Deficiency Adenosine Monophosphate Deaminase 1 Deficiency Adenosine Triphosphatase Deficiency, Anemia Due to Adenovirus Infection in Immunocompromised Patients Adenylate Kinase Deficiency, Hemolytic Anemia Due to Adenylosuccinase Deficiency Adermatoglyphia Adie Pupil Adiposis Dolorosa Adnexal Spiradenoma/cylindroma of a Sweat Gland Adnp Syndrome Adolescent-Onset Dystonia of Mixed Type Adrenal Adenoma Adrenal Carcinoma Adrenal Gland Hyperfunction Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency Adrenal Hypoplasia, Congenital Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone Adrenal Hypoplasia, Cytomegalic Type Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete Adrenal Medulla Cancer Adrenocortical Carcinoma, Hereditary Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion Adrenoleukodystrophy Adrenomyeloneuropathy Adrenomyodystrophy Adult Acute Lymphocytic Leukemia Adult Acute Respiratory Distress Syndrome Adult Botryoid Rhabdomyosarcoma Adult Central Nervous System Choriocarcinoma Adult Central Nervous System Embryonal Carcinoma Adult Central Nervous System Germinoma Adult Central Nervous System Mixed Germ Cell Tumor Adult Central Nervous System Teratoma Adult Choroid Plexus Cancer Adult Dermatomyositis Adult Ependymoblastoma Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome Adult Fibrosarcoma Adult Hepatocellular Carcinoma Adult Intestinal Botulism Adult Krabbe Disease Adult Liposarcoma Adult Malignant Hemangiopericytoma Adult Malignant Mesenchymoma Adult Medulloblastoma Adult Mesoblastic Nephroma Adult Neuronal Ceroid Lipofuscinosis Adult Oligodendroglioma Adult-Onset Citrullinemia Type I Adult-Onset Distal Myopathy Due to Vcp Mutation Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies Adult-Onset Myasthenia Gravis Adult-Onset Nemaline Myopathy Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia Adult-Onset Still's Disease Adult Pineoblastoma Adult Polyglucosan Body Disease Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type Adult Pulmonary Langerhans Cell Histiocytosis Adult Respiratory Distress Syndrome Adult Syndrome Adult T-Cell Leukemia Adult Xanthogranuloma Advanced Sleep Phase Syndrome Advanced Sleep Phase Syndrome 2 Advanced Sleep Phase Syndrome, Familial, 1 Advanced Sleep Phase Syndrome, Familial, 2 Advanced Sleep Phase Syndrome, Familial, 3 Adverse Events of 5-Alpha-Reductase Inhibitors Aerobic Actinomyces Infection Afib Amyloidosis Afibrinogenemia Afibrinogenemia, Congenital Agammaglobulinemia Agammaglobulinemia 1, Autosomal Recessive Agammaglobulinemia 2, Autosomal Recessive Agammaglobulinemia 3, Autosomal Recessive Agammaglobulinemia 4, Autosomal Recessive Agammaglobulinemia 5, Autosomal Dominant Agammaglobulinemia 6, Autosomal Recessive Agammaglobulinemia 7, Autosomal Recessive Agammaglobulinemia 8, Autosomal Dominant Agammaglobulinemia, Microcephaly, and Severe Dermatitis Agammaglobulinemia, Non-Bruton Type Agammaglobulinemia, X-Linked Agammaglobulinemia, X-Linked, Type 2 Aganglionosis, Total Intestinal Agenesis and Aplasia of Uterine Body Agenesis of the Corpus Callosum with Peripheral Neuropathy Agenesis of the Superior Vena Cava Aggressive Systemic Mastocytosis Aglossia and Situs Inversus Agnathia-Microstomia-Synotia Agnathia-Otocephaly Complex Agnosia Agyria Pachygyria Polymicrogyria Agyria-Pachygyria Type 1 Ah Amyloidosis Ahumada Del Castillo Syndrome Aicardi-Goutieres Syndrome Aicardi-Goutieres Syndrome 1 Aicardi-Goutieres Syndrome 2 Aicardi-Goutieres Syndrome 3 Aicardi-Goutieres Syndrome 4 Aicardi-Goutieres Syndrome 5 Aicardi-Goutieres Syndrome 6 Aicardi-Goutieres Syndrome 7 Aicardi Syndrome Aicar Transformylase/imp Cyclohydrolase Deficiency Aids Dementia Complex Aids Dysmorphic Syndrome Aids Wasting Syndrome Ainhum Airway-Centered Interstitial Fibrosis Akaba Hayasaka Syndrome Akesson Syndrome Aksu Von Stockhausen Syndrome Alagille Syndrome 1 Alagille Syndrome 2 Al Amyloidosis Aland Island Eye Disease Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus Alazami Syndrome Albinism Albinism-Deafness Syndrome Albinism Immunodeficiency Albinism-Microcephaly-Digital Anomalies Syndrome Albinism, Minimal Pigment Type Albinism, Ocular, Type I Albinism, Ocular, with Late-Onset Sensorineural Deafness Albinism, Ocular, with Sensorineural Deafness Albinism, Oculocutaneous, Type Ia Albinism, Oculocutaneous, Type Ib Albinism, Oculocutaneous, Type Ii Albinism, Oculocutaneous, Type Iii Albinism, Oculocutaneous, Type Iv Albinism, Oculocutaneous, Type V Albinism, Oculocutaneous, Type Vi Albinism, Oculocutaneous, Type Vii Albright's Hereditary Osteodystrophy Albright Like Syndrome Alcohol Abuse Alcohol Sensitivity, Acute Alcohol Use Disorder Aldred Syndrome Alect2 Amyloidosis Aleukemic Mast Cell Leukemia Alexander Disease Alezzandrini Syndrome Al Gazali Aziz Salem Syndrome Al-Gazali-Bakalinova Syndrome Al-Gazali-Donnai-Mueller Syndrome Al Gazali Khidr Prem Chandran Syndrome Al Gazali Sabrinathan Nair Syndrome Al-Gazali Syndrome Alkaptonuria Alk+ Histiocytosis Alk-Negative Anaplastic Large Cell Lymphoma Alk-Positive Anaplastic Large Cell Lymphoma Alk-Positive Large B-Cell Lymphoma Allain-Babin-Demarquez Syndrome Allan-Herndon-Dudley Syndrome Allergic Angiitis Allergic Bronchopulmonary Aspergillosis Allergic Bronchopulmonary Aspergillosis, Familial Allergic Encephalomyelitis Allopurinol Toxicity Alobar Holoprosencephaly Aloi Tomasini Isaia Syndrome Alopecia, Androgenetic, 1 Alopecia, Androgenetic, 2 Alopecia, Androgenetic, 3 Alopecia Antibody Deficiency Alopecia Areata Alopecia Areata 1 Alopecia Areata 2 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome Alopecia-Contractures-Dwarfism Mental Retardation Syndrome Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan Alopecia, Epilepsy, Pyorrhea, Mental Subnormality Alopecia Immunodeficiency Alopecia-Intellectual Disability Syndrome Alopecia Intellectual Disability Syndrome 2 Alopecia Macular Degeneration Growth Retardation Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality Alopecia Totalis Alopecia Universalis Congenita Alopecia Universalis Onychodystrophy Vitiligo Alpha-1-Antitrypsin Deficiency Alpha-2-Deficient Collagen Disease Alpha-2-Plasmin Inhibitor Deficiency Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Alpha-Fetoprotein Deficiency Alpha-Fetoprotein, Hereditary Persistence of Alpha-Heavy Chain Disease Alpha-Ketoglutarate Dehydrogenase Deficiency Alpha-Mannosidosis, Adult Form Alpha-Mannosidosis, Infantile Form Alpha-Methylacetoacetic Aciduria Alpha-Thalassemia Alpha-Thalassemia-Abnormal Morphogenesis Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related Alpha-Thalassemia/mental Retardation Syndrome, X-Linked Alpha-Thalassemia Myelodysplasia Syndrome Alpha Thalassemia-X-Linked Intellectual Disability Syndrome Alport Syndrome, Autosomal Dominant Alport Syndrome, Autosomal Recessive Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome Alport Syndrome, X-Linked Alsing Syndrome Alstrom Syndrome Alternating Hemiplegia of Childhood Alternating Hemiplegia of Childhood 1 Alternating Hemiplegia of Childhood 2 Aluminium Lung Alveolar Capillary Dysplasia Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Alveolar Echinococcosis Alveolar Soft Part Sarcoma Alzheimer Disease Alzheimer Disease 10 Alzheimer Disease 11 Alzheimer Disease 12 Alzheimer Disease 13 Alzheimer Disease 14 Alzheimer Disease 15 Alzheimer Disease 16 Alzheimer Disease 17 Alzheimer Disease 18 Alzheimer Disease 19 Alzheimer Disease 2 Alzheimer Disease 3 Alzheimer Disease 4 Alzheimer Disease 5 Alzheimer Disease 6 Alzheimer Disease 7 Alzheimer Disease 8 Alzheimer Disease 9 Alzheimer Disease Type 1 Alzheimer Disease Without Neurofibrillary Tangles Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis Amaurosis Fugax Amebiasis Amegakaryocytic Thrombocytopenia, Congenital Amelia, Autosomal Recessive Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Amelia of Lower Limb Amelia of Lower Limb, Bilateral Amelia of Lower Limb, Unilateral Amelia of Upper Limb Amelia of Upper Limb, Bilateral Amelia of Upper Limb, Unilateral Ameloblastic Carcinoma Ameloblastoma Amelogenesis Imperfecta Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome Amelogenesis Imperfecta Hypomaturation Type Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 Amelogenesis Imperfecta Hypoplastic Type, Ig Amelogenesis Imperfecta Local Hypoplastic Amelogenesis Imperfecta Pigmented Hypomaturation Type Amelogenesis Imperfecta Type 2a1 Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Ib Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Ie Amelogenesis Imperfecta, Type if Amelogenesis Imperfecta, Type Ig Amelogenesis Imperfecta, Type Ih Amelogenesis Imperfecta, Type Iiia Amelogenesis Imperfecta, Type Iiib Amelogenesis Imperfecta, Type Iv Ameloonychohypohidrotic Syndrome Aminoacidopathies Aminoaciduria Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis Aminoacylase 1 Deficiency Aminolevulinate Dehydratase Deficiency Porphyria Aminopterin/methotrexate Embryofetopathy Aminopterin Syndrome Sine Aminopterin Aml with Myelodysplasia-Related Features Amniotic Band Syndrome Amoebiasis Due to Free-Living Amoebae Ampola Syndrome Ampulla of Vater Neoplasm Amyloid Neuropathy Amyloidosis Amyloidosis Aa Amyloidosis Beta2m Amyloidosis Bronchopulmonary Amyloidosis Cutis Dyschromia Amyloidosis, Familial Visceral Amyloidosis, Finnish Type Amyloidosis, Hereditary, Transthyretin-Related Amyloidosis Nodular Localized Cutaneous Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability Amyloidosis, Primary Localized Cutaneous, 1 Amyloidosis, Primary Localized Cutaneous, 2 Amyoplasia Mandibulofacial Dysostosis Amyotonia Congenita Amyotrophic Lateral Sclerosis 1 Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 11 Amyotrophic Lateral Sclerosis 12 Amyotrophic Lateral Sclerosis 16, Juvenile Amyotrophic Lateral Sclerosis 17 Amyotrophic Lateral Sclerosis 18 Amyotrophic Lateral Sclerosis 19 Amyotrophic Lateral Sclerosis 20 Amyotrophic Lateral Sclerosis 21 Amyotrophic Lateral Sclerosis 23 Amyotrophic Lateral Sclerosis 2, Juvenile Amyotrophic Lateral Sclerosis 3 Amyotrophic Lateral Sclerosis 4, Juvenile Amyotrophic Lateral Sclerosis 5, Juvenile Amyotrophic Lateral Sclerosis 7 Amyotrophic Lateral Sclerosis 8 Amyotrophic Lateral Sclerosis 9 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 Amyotrophic Lateral Sclerosis Type 14 Amyotrophic Lateral Sclerosis Type 15 Amyotrophic Lateral Sclerosis Type 22 Amyotrophic Lateral Sclerosis Type 5 Amyotrophic Lateral Sclerosis Type 6 Amyotrophy, Hereditary Neuralgic Amyotrophy, Monomelic Anal Atresia, Hypospadias, and Penoscrotal Inversion Analbuminemia Anal Canal Adenocarcinoma Anal Canal Squamous Cell Carcinoma Anal Fistula Anal Sphincter Dysplasia Anaplastic Ependymoma Anaplastic Ganglioglioma Anaplastic Large Cell Lymphoma Anaplastic/large Cell Medulloblastoma Anaplastic Oligoastrocytoma Anaplastic Oligodendroglioma Anaplastic Plasmacytoma Anaplastic Small Cell Lymphoma Anauxetic Dysplasia 1 Anauxetic Dysplasia 2 Anca-Associated Vasculitis Ancylostomiasis Andersen Cardiodysrhythmic Periodic Paralysis Androgen Insensitivity, Partial Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome, Mild Anemia, Autoimmune Hemolytic Anemia, Congenital Dyserythropoietic, Type Ia Anemia, Congenital Dyserythropoietic, Type Ib Anemia, Congenital Dyserythropoietic, Type Ii Anemia, Congenital Dyserythropoietic, Type Iii Anemia, Congenital Dyserythropoietic, Type Iv Anemia, Hypochromic Microcytic, with Iron Overload 1 Anemia, Hypochromic Microcytic, with Iron Overload 2 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency Anemia, Sideroblastic, 1 Anemia, Sideroblastic, 2, Pyridoxine-Refractory Anemia, Sideroblastic, 3, Pyridoxine-Refractory Anemia, Sideroblastic, 4 Anemia, Sideroblastic, and Spinocerebellar Ataxia Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities Anencephaly Anencephaly and Spina Bifida X-Linked Aneurysmal Bone Cysts Aneurysm, Intracranial Berry, 1 Aneurysm, Intracranial Berry, 10 Aneurysm, Intracranial Berry, 11 Aneurysm, Intracranial Berry, 2 Aneurysm, Intracranial Berry, 3 Aneurysm, Intracranial Berry, 4 Aneurysm, Intracranial Berry, 5 Aneurysm, Intracranial Berry, 6 Aneurysm, Intracranial Berry, 7 Aneurysm, Intracranial Berry, 8 Aneurysm, Intracranial Berry, 9 Aneurysm of Interventricular Septum Aneurysm of Sinus of Valsalva Aneurysm or Dilatation of Ascending Aorta Angelman Syndrome Angelman Syndrome Due to a Point Mutation Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 Angelman Syndrome Due to Maternal 15q11q13 Deletion Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 Angel-Shaped Phalangoepiphyseal Dysplasia Angiocentric Glioma Angioedema Angioedema, Hereditary, Type I Angioedema, Hereditary, Type Iii Angioedema Induced by Ace Inhibitors Angiofollicular Lymph Hyperplasia Angioimmunoblastic Lymphadenopathy with Dysproteinemia Angioimmunoblastic T-Cell Lymphoma Angiolipomatosis, Familial Angioma, Hereditary Neurocutaneous Angioma Serpiginosum Angioma Serpiginosum, Autosomal Dominant Angioma Serpiginosum, X-Linked Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert Angiomatosis, Leptomeningeal Capillary Venous Angiomatous Lymphoid Hamartoma Angioma, Tufted Angiomyomatous Hamartoma Angioosteohypertrophic Syndrome Angioosteohypotrophic Syndrome Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps Angiosarcoma Angiosarcoma of the Scalp Angiostrongyliasis Angora Hair Nevus Anhidrosis, Isolated, with Normal Sweat Glands Aniridia 1 Aniridia 2 Aniridia 3 Aniridia and Absent Patella Aniridia-Intellectual Disability Syndrome Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation Aniridia - Ptosis - Intellectual Disability - Familial Obesity Aniridia Renal Agenesis Psychomotor Retardation Anisakiasis Ankle Defects Short Stature Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Ankyloblepharon Filiforme Adnatum and Cleft Palate Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome Ankyloblepharon Filiforme Imperforate Anus Ankylosing Vertebral Hyperostosis with Tylosis Ankylostomiasis Annular Atrophic Lichen Planus Annular Constricting Bands Annular Lichen Planus Anodontia Anodontia of Permanent Dentition Anomaly of the Mitral Subvalvular Apparatus Anomaly of the Tricuspid Valve Chordae Anonychia-Ectrodactyly Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges Anonychia, Total, with Microcephaly Anonychia with Flexural Pigmentation Anophthalmia Cleft Lip Palate Hypothalamic Disorder Anophthalmia Cleft Palate Micrognathia Anophthalmia Esophageal Atresia Cryptorchidism Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies Anophthalmia Microcephaly Hypogonadism Anophthalmos with Limb Anomalies Anorchia Anosmia, Isolated Congenital Anotia Facial Palsy Cardiac Defect Antenatal Bartter Syndrome Antenatal Multiminicore Disease with Arthrogryposis Multiplex Congenita Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis Anterior Compartment Syndrome Anterior Cutaneous Nerve Entrapment Syndrome Anterior Pituitary Insufficiency, Familial Anterior Scleritis Anterior Segment Dysgenesis 1 Anterior Segment Dysgenesis 2 Anterior Segment Dysgenesis 3 Anterior Segment Dysgenesis 4 Anterior Segment Dysgenesis 5 Anterior Segment Dysgenesis 6 Anterior Segment Dysgenesis 7 Anterior Segment Dysgenesis 8 Anterior Spinal Artery Stroke Anterior Urethral Valve Anterior Uveitis Anthracosis Anthracycline Extravasation Anthrax Disease Antidepressant or Antipsychotic Toxicity or Dose Selection Antigen-Peptide-Transporter 2 Deficiency Anti-Hla Hyperimmunization Antihypertensive Drugs Antenatal Exposure Anti-P200 Pemphigoid Antiphospholipid Syndrome Antiphospholipid Syndrome, Familial Anti-Plasmin Deficiency, Congenital Antisynthetase Syndrome Antithrombin Iii Deficiency Antley-Bixler Syndrome Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis Anton's Syndrome Anus Cancer Anus, Imperforate Aorta-Pulmonary Artery Fistula Aortic Aneurysm, Familial Abdominal, 1 Aortic Aneurysm, Familial Abdominal, 2 Aortic Aneurysm, Familial Abdominal, 3 Aortic Aneurysm, Familial Abdominal, 4 Aortic Aneurysm, Familial Thoracic 1 Aortic Aneurysm, Familial Thoracic 10 Aortic Aneurysm, Familial Thoracic 11 Aortic Aneurysm, Familial Thoracic 2 Aortic Aneurysm, Familial Thoracic 4 Aortic Aneurysm, Familial Thoracic 6 Aortic Aneurysm, Familial Thoracic 7 Aortic Aneurysm, Familial Thoracic 8 Aortic Aneurysm, Familial Thoracic 9 Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability Aortic Arch Anomaly with Peculiar Facies and Mental Retardation Aortic Arch Interruption Aortic Coarctation Aortic Dissection Lentiginosis Aortic Valve Atresia Aortic Valve Disease 1 Aortic Valve Disease 2 Aortic Valve Dysplasia Aortic Valve Insufficiency Aortic Valves Stenosis of the Child Aorto-Left Ventricular Tunnel Aortopulmonary Coronary Arterial Course Aortopulmonary Window Aorto-Right Ventricular Tunnel Aorto-Ventricular Tunnel Apert Like Polydactyly Syndrome Apert Syndrome Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv Aphalangy with Hemivertebrae Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome Aphthous Stomatitis Aplasia Cutis Autosomal Recessive Aplasia Cutis Congenita Aplasia Cutis Congenita Dominant Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction Aplasia Cutis Congenita, Nonsyndromic Aplasia Cutis Congenita of Limbs, Autosomal Recessive Aplasia Cutis Congenita of Limbs Recessive Aplasia Cutis Congenita Recessive Aplasia Cutis Congenita with Intestinal Lymphangiectasia Aplasia Cutis Myopia Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy Aplasia of Lacrimal and Salivary Glands Aplastic Anemia Apnea of Prematurity Apo a-I Deficiency Apocrine Adenocarcinoma Apodia Apodia, Bilateral Apodia, Unilateral Apolipoprotein C 2i Deficiency Apolipoprotein C-Ii Deficiency Apparent Mineralocorticoid Excess Appendix Adenocarcinoma Apraxia Aprosencephaly and Cerebellar Dysgenesis Aprosencephaly Syndrome Aquagenic Pruritus Aquagenic Syringeal Acrokeratoderm Arachindonic Acid, Absence of Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome Arachnodactyly - Intellectual Disability - Dysmorphism Arachnoid Cysts Arachnoiditis Arbovirosis Aredyld Aregenerative Anemia Arena Syndrome Argentine Hemorrhagic Fever Argininemia Argininosuccinic Aciduria Argyria Arhinia Choanal Atresia Microphthalmia Armfield X-Linked Mental Retardation Syndrome Arnold Stickler Bourne Syndrome Aromatase Deficiency Aromatase Excess Syndrome Aromatic L-Amino Acid Decarboxylase Deficiency Arrhinia Arrhythmogenic Right Ventricular Cardiomyopathy Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Arroyo Garcia Cimadevilla Syndrome Arterial Calcification of Infancy Arterial Dissection with Lentiginosis Arterial Thoracic Outlet Syndrome Arterial Tortuosity Syndrome Arteriovenous Fistula Arteriovenous Malformations of the Brain Arthritis Short Stature Deafness Arthrochalasia Ehlers-Danlos Syndrome Arthrogryposis and Ectodermal Dysplasia Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 1a Arthrogryposis, Distal, Type 1b Arthrogryposis, Distal, Type 2a Arthrogryposis, Distal, Type 2e Arthrogryposis, Distal, Type 3 Arthrogryposis, Distal, Type 4 Arthrogryposis, Distal, Type 5 Arthrogryposis, Distal, Type 5d Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 7 Arthrogryposis, Distal, Type 8 Arthrogryposis, Distal, Type 9 Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay Arthrogryposis Epileptic Seizures Migrational Brain Disorder Arthrogryposis Iugr Thoracic Dystrophy Arthrogryposis-Like Hand Anomaly and Sensorineural Deafness Arthrogryposis, Mental Retardation, and Seizures Arthrogryposis Multiplex Congenita Cns Calcification Arthrogryposis Multiplex Congenita, Neurogenic Type Arthrogryposis Multiplex Congenita Whistling Face Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death Arthrogryposis, Renal Dysfunction, and Cholestasis 1 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 Arthrogryposis Spinal Muscular Atrophy Arthrogryposis with Hyperkeratosis Arthropathy, Progressive Pseudorheumatoid, of Childhood Arts Syndrome Arx-Related Intellectual Disability Asbestos Intoxication Asbestosis Ascites, Chylous Aseptic Osteitis Asherman's Syndrome Asparagine Synthetase Deficiency Aspartylglucosaminuria Asperger Syndrome Asperger Syndrome 1 Asperger Syndrome 2 Asperger Syndrome 3 Asperger Syndrome 4 Aspergillosis Aspergillus Niger Infection Asphyxia Neonatorum Asplenia, Isolated Congenital Asrar Facharzt Haque Syndrome Asternia Asternia with Cardiac, Diaphragmatic, and Abdominal Defects Asthma Astley-Kendall Syndrome Astroblastoma Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus Ataxia-Deafness-Retardation Syndrome Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia Ataxia - Hypogonadism - Choroidal Dystrophy Ataxia-Oculomotor Apraxia 3 Ataxia-Oculomotor Apraxia 4 Ataxia-Pancytopenia Syndrome Ataxia-Photosensitivity-Short Stature Syndrome Ataxia-Telangiectasia Ataxia-Telangiectasia-Like Disorder 1 Ataxia-Telangiectasia-Like Disorder 2 Ataxia with Vitamin E Deficiency Atelosteogenesis Atelosteogenesis, Type I Atelosteogenesis, Type Ii Atelosteogenesis, Type Iii Athabaskan Brainstem Dysgenesis Syndrome Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease Athetosis Athyreosis Atkin-Flaitz Syndrome Atlanto-Axial Fusion Atlantoaxial Subluxation Atopic Keratoconjunctivitis Atp6v0a2-Related Cutis Laxa Atransferrinemia Atresia of Small Intestine Atresia of Urethra Atrial Fibrillation Atrial Fibrillation, Familial, 1 Atrial Fibrillation, Familial, 10 Atrial Fibrillation, Familial, 11 Atrial Fibrillation, Familial, 12 Atrial Fibrillation, Familial, 13 Atrial Fibrillation, Familial, 14 Atrial Fibrillation, Familial, 15 Atrial Fibrillation, Familial, 18 Atrial Fibrillation, Familial, 2 Atrial Fibrillation, Familial, 3 Atrial Fibrillation, Familial, 4 Atrial Fibrillation, Familial, 5 Atrial Fibrillation, Familial, 6 Atrial Fibrillation, Familial, 7 Atrial Fibrillation, Familial, 8 Atrial Fibrillation, Familial, 9 Atrial Septal Aneurysm Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects Atrial Septal Defect Coronary Sinus Atrial Septal Defect Ostium Primum Atrial Septal Defect Sinus Venosus Atrial Standstill Atrial Standstill 1 Atrial Standstill 2 Atrial Tachyarrhythmia with Short Pr Interval Atrichia with Papular Lesions Atrioventricular Septal Defect Atrioventricular Septal Defect 2 Atrioventricular Septal Defect 3 Atrioventricular Septal Defect 4 Atrioventricular Septal Defect 5 Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects Atrophic Gastritis Atrophic Lichen Planus Atrophoderma of Pierini and Pasini Atrophoderma Vermiculata Attenuated Chédiak-Higashi Syndrome Attenuated Familial Adenomatous Polyposis Atypical Autism Atypical Choroid Plexus Papilloma Atypical Chronic Myeloid Leukemia Atypical Coarctation of Aorta Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly Atypical Juvenile Parkinsonism Atypical Lichen Myxedematosus Atypical Meigs Syndrome Atypical Mycobacteriosis, Familial Atypical Norrie Disease Due to Monosomy Xp11.3 Atypical Pantothenate Kinase-Associated Neurodegeneration Atypical Werner Syndrome Audiogenic Seizures Auditory Neuropathy, Autosomal Dominant, 1 Auditory Neuropathy Spectrum Disorder Au-Kline Syndrome Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome Auriculo-Condylar Syndrome Auriculoosteodysplasia Aurocephalosyndactyly Ausems Wittebol-Post Hennekam Syndrome Autism Autism 10 Autism 11 Autism 12 Autism 13 Autism 15 Autism 16 Autism 17 Autism 18 Autism 19 Autism 3 Autism 5 Autism 6 Autism 7 Autism 8 Autism 9 Autism-Facial Port-Wine Stain Syndrome Autism Spectrum Disorder Autism with Port-Wine Stain Autism X-Linked 1 Autism X-Linked 2 Autism X-Linked 3 Autism X-Linked 4 Autism X-Linked 5 Autism X-Linked 6 Autoimmune Atrophic Gastritis Autoimmune Autonomic Ganglionopathy Autoimmune Disease, Multisystem, Infantile-Onset, 1 Autoimmune Disease, Multisystem, Infantile-Onset, 2 Autoimmune Disease, Multisystem, with Facial Dysmorphism Autoimmune Encephalitis Autoimmune Encephalopathy with Parasomnia and Obstructive Sleep Apnea Autoimmune Enteropathy Autoimmune Enteropathy Type 2 Autoimmune Enteropathy Type 3 Autoimmune Gastrointestinal Dysmotility Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome Autoimmune Hemolytic Anemia, Warm Type Autoimmune Hepatitis Autoimmune Hypoparathyroidism Autoimmune Inner Ear Disease Autoimmune Interstitial Lung, Joint, and Kidney Disease Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency Autoimmune Lymphoproliferative Syndrome, Type Iia Autoimmune Lymphoproliferative Syndrome, Type Iii Autoimmune Lymphoproliferative Syndrome, Type V Autoimmune Myocarditis Autoimmune Neuropathy Autoimmune Oophoritis Autoimmune Pancreatitis Autoimmune Pancreatitis Type 1 Autoimmune Pancreatitis Type 2 Autoimmune Polyendocrine Syndrome Autoimmune Polyendocrine Syndrome Type 1 Autoimmune Polyendocrine Syndrome, Type Ii Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia Autoimmune Polyendocrinopathy Type 3 Autoimmune Polyendocrinopathy Type 4 Autoimmune Polyglandular Syndrome Type 3 Autoimmune Progesterone Dermatitis Autoimmune Retinopathy Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated Autoinflammation, Lipodystrophy, and Dermatosis Syndrome Autoinflammation, Panniculitis, and Dermatosis Syndrome Autoinflammation with Infantile Enterocolitis Autoinflammatory Syndrome, Familial, Behcet-Like Autosomal Dominant Café Au Lait Spots Autosomal Dominant Cerebellar Ataxia Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy Autosomal Dominant Coarctation of Aorta Autosomal Dominant Complex Spastic Paraplegia Type 9b Autosomal Dominant Congenital Stationary Night Blindness Autosomal Dominant Deafness-Onychodystrophy Syndrome Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome Autosomal Dominant Epilepsy with Auditory Features Autosomal Dominant Intellectual Disability 30 Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain Autosomal Dominant Leukodystrophy with Autonomic Disease Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g Autosomal Dominant Macrothrombocytopenia Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Autosomal Dominant Nonsyndromic Deafness Autosomal Dominant Non-Syndromic Intellectual Disability Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna Autosomal Dominant Optic Atrophy and Peripheral Neuropathy Autosomal Dominant Optic Atrophy, Classic Form Autosomal Dominant Optic Atrophy Plus Syndrome Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia Autosomal Dominant Partial Epilepsy with Auditory Features Autosomal Dominant Polycystic Kidney Disease Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome Autosomal Dominant Progressive External Ophthalmoplegia Autosomal Dominant Proximal Renal Tubular Acidosis Autosomal Dominant Robinow Syndrome Autosomal Dominant Secondary Polycythemia Autosomal Dominant Sideroblastic Anemia Autosomal Dominant Trichoodontoonychodysplasia-Syndactyly Autosomal Dominant Tubulointerstitial Kidney Disease Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related Autosomal Recessive Ataxia Due to Pex10 Deficiency Autosomal Recessive Cerebellar Ataxia Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity Autosomal Recessive Cerebral Atrophy Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome Autosomal Recessive Congenital Ichthyosis Autosomal Recessive Congenital Stationary Night Blindness Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Hypophosphatemic Rickets Autosomal Recessive Intellectual Disability 58 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Autosomal Recessive Isolated Optic Atrophy Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Lymphoproliferative Disease Autosomal Recessive Malignant Osteopetrosis Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36 Autosomal Recessive Nonsyndromic Deafness 86 Autosomal Recessive Non-Syndromic Intellectual Disability Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia Autosomal Recessive Primary Microcephaly Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency Autosomal Recessive Sideroblastic Anemia Autosomal Recessive Spastic Paraplegia Type 59 Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67 Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69 Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71 Autosomal Recessive Stickler Syndrome Autosomal Recessive Type Iv Ehlers-Danlos Syndrome Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy Autosomal Thrombocytopenia with Normal Platelets Avascular Necrosis of Femoral Head, Primary, 1 Avascular Necrosis of Femoral Head, Primary, 2 Avian Influenza Axenfeld-Rieger Syndrome Axenfeld-Rieger Syndrome, Type 1 Axenfeld-Rieger Syndrome, Type 2 Axenfeld-Rieger Syndrome, Type 3 Axial Mesodermal Dysplasia Spectrum Axial Osteomalacia Axin2-Related Attenuated Familial Adenomatous Polyposis Axonal Neuropathy Axonal Polyneuropathy Associated with Igg/igm/iga Monoclonal Gammopathy Ayazi Syndrome Ayme-Gripp Syndrome Azathioprine or 6-Mercatopurine Toxicity or Dose Selection Azygos Continuation of the Inferior Vena Cava Babesiosis Baby Rattle Pelvic Dysplasia Bacterial Meningitis Bacterial Myositis Baetz-Greenwalt Syndrome Bagatelle Cassidy Syndrome Bainbridge-Ropers Syndrome Bain Type of X-Linked Syndromic Intellectual Disability Baker Vinters Syndrome Balantidioza Balint Syndrome Baller-Gerold Syndrome Bamforth Syndrome Band Heterotopia Bangstad Syndrome Banki Syndrome Bannayan-Riley-Ruvalcaba Syndrome Banti's Syndrome Bap1 Tumor Predisposition Syndrome Baraitser Brett Piesowicz Syndrome Baraitser Rodeck Garner Syndrome Baraitser-Winter Syndrome Baraitser-Winter Syndrome 1 Baraitser-Winter Syndrome 2 Barber-Say Syndrome Bardet-Biedl Syndrome Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 10 Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 12 Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14 Bardet-Biedl Syndrome 15 Bardet-Biedl Syndrome 16 Bardet-Biedl Syndrome 17 Bardet-Biedl Syndrome 18 Bardet-Biedl Syndrome 19 Bardet-Biedl Syndrome 2 Bardet-Biedl Syndrome 20 Bardet-Biedl Syndrome 21 Bardet-Biedl Syndrome 3 Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 5 Bardet-Biedl Syndrome 6 Bardet-Biedl Syndrome 7 Bardet-Biedl Syndrome 8 Bardet-Biedl Syndrome 9 Bare Lymphocyte Syndrome, Type I Bare Lymphocyte Syndrome, Type Ii Baritosis Barnicoat Baraitser Syndrome Baroreflex Failure Barrett Esophagus Barth Syndrome Bartter Disease Bartter Syndrome, Type 1, Antenatal Bartter Syndrome, Type 2, Antenatal Bartter Syndrome, Type 3 Bartter Syndrome Type 4 Bartter Syndrome, Type 5, Antenatal, Transient Basal Cell Carcinoma Basal Cell Carcinoma 1 Basal Cell Carcinoma 2 Basal Cell Carcinoma 3 Basal Cell Carcinoma 4 Basal Cell Carcinoma 5 Basal Cell Carcinoma 6 Basal Cell Carcinoma 7 Basal Cell Carcinoma, Infundibulocystic Basal Cell Carcinoma, Multiple Basal Cell Nevus Syndrome Basal Encephalocele Basal Ganglia Calcification, Idiopathic, 1 Basal Ganglia Calcification, Idiopathic, 2 Basal Ganglia Calcification, Idiopathic, 4 Basal Ganglia Calcification, Idiopathic, 5 Basal Ganglia Calcification, Idiopathic, 6 Basal Ganglia Calcification, Idiopathic, Childhood-Onset Basaloid Follicular Hamartoma Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant Basaran Yilmaz Syndrome Basedow's Coma Basel-Vanagaite-Smirin-Yosef Syndrome Basilar Impression, Primary Bassoe Syndrome Battaglia-Neri Syndrome Baylisascaris Infection Bazex Syndrome B Cell Deficiency B-Cell Expansion with Nfkb and T-Cell Anergy B-Cell Lymphomas B Cell Prolymphocytic Leukemia Beare-Stevenson Cutis Gyrata Syndrome Beaulieu-Boycott-Innes Syndrome Becker Nevus Syndrome Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 Bednar Tumor Beemer Ertbruggen Syndrome Beemer Lethal Malformation Syndrome Behavioral Variant of Frontotemporal Dementia Behcet Syndrome Behr Syndrome Bejel Bell's Palsy Benallegue Lacete Syndrome Ben Ari Shuper Mimouni Syndrome Benign Adult Familial Myoclonic Epilepsy Benign Angiitis of the Central Nervous System Benign Autosomal Dominant Myopathy Benign Breast Phyllodes Tumor Benign Cephalic Histiocytosis Benign Childhood Occipital Epilepsy, Gastaut Type Benign Childhood Occipital Epilepsy, Panayiotopoulos Type Benign Chronic Pemphigus Benign Ductal Tumor of Breast Benign Ependymoma Benign Epilepsy with Centrotemporal Spikes Benign Essential Hypertension Benign Familial Infantile Epilepsy Benign Familial Mesial Temporal Lobe Epilepsy Benign Familial Neonatal Epilepsy Benign Focal Seizures of Adolescence Benign Idiopathic Neonatal Seizures Benign Infantile Focal Epilepsy with Midline Spikes and Wave During Sleep Benign Infantile Seizures Associated with Mild Gastroenteritis Benign Intermediate Mesothelioma Benign Meningioma Benign Mesenchymoma Benign Mesothelioma Benign Metanephric Tumour Benign Metastasizing Leiomyoma Benign Multicystic Peritoneal Mesothelioma Benign Neonatal Seizures Benign Nocturnal Alternating Hemiplegia of Childhood Benign Paroxysmal Positional Nystagmus Benign Paroxysmal Torticollis of Infancy Benign Partial Epilepsy of Infancy with Complex Partial Seizures Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy Benign Peritoneal Mesothelioma Benign Prostate Phyllodes Tumor Benign Samaritan Congenital Myopathy Benign Secondary Hypertension Benign Tumor of Fallopian Tubes Bent Bone Dysplasia Syndrome Beriberi Berk-Tabatznik Syndrome Bernard-Soulier Syndrome Bernard-Soulier Syndrome, Type A2, Autosomal Dominant Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification Beryllium Disease Best1 Retinopathy Bestrophinopathy Bestrophinopathy, Autosomal Recessive Best Vitelliform Macular Dystrophy Beta-Thalassemia Beta-Thalassemia, Dominant Inclusion Body Type Beta-Ureidopropionase Deficiency Bethlem Myopathy 1 Bethlem Myopathy 2 Beukes Hip Dysplasia Bicervical Bicornuate Uterus and Blind Hemivagina Bicervical Bicornuate Uterus with Patent Cervix and Vagina Bickerstaff Brainstem Encephalitis Bidirectional Tachycardia Biemond Syndrome Biemond Syndrome Ii Biemond Syndrome Type 1 Bier Spots Bietti Crystalline Corneoretinal Dystrophy Bifid Nose Bifid Nose with or Without Anorectal and Renal Anomalies Bilateral Acute Depigmentation of the Iris Bilateral Frontal Polymicrogyria Bilateral Generalized Polymicrogyria Bilateral Massive Adrenal Hemorrhage Bilateral Multicystic Dysplastic Kidney Bilateral Parasagittal Parieto-Occipital Polymicrogyria Bilateral Polymicrogyria Bilateral Renal Agenesis Dominant Type Bile Acid Coa Ligase Deficiency and Defective Amidation Bile Acid Synthesis Defect, Congenital, 1 Bile Acid Synthesis Defect, Congenital, 2 Bile Acid Synthesis Defect, Congenital, 3 Bile Acid Synthesis Defect, Congenital, 4 Bile Duct Carcinoma Bile Duct Cystadenocarcinoma Bile Duct Cysts Biliary Atresia Biliary Atresia, Extrahepatic Biliary Atresia Intrahepatic Non Syndromic Form Biliary Atresia Intrahepatic Syndromic Form Biliary Atresia with Splenic Malformation Syndrome Biliary Hypoplasia Biliary Tract Neoplasm Bilirubin Induced Brain Injury in the Newborn Billet Bear Syndrome Binswanger's Disease Biotinidase Deficiency Biotin-Thiamine-Responsive Basal Ganglia Disease Bipartite Talus Bipolar Disorder Bipolar I Disorder Bipolar Ll Disorder Birdshot Chorioretinopathy Birk-Barel Mental Retardation Dysmorphism Syndrome Birt-Hogg-Dube Syndrome Bisphosphoglycerate Mutase Deficiency Bizzare Parosteal Osteochondromatous Proliferation Bjornstad Syndrome Bk-Virus Nephropathy Black Hairy Tongue Bladder Benign Neoplasm Bladder Cancer Bladder Cancer, Childhood Bladder Carcinoma in Situ Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex Blake Pouch Cyst Blastic Plasmacytoid Dendritic Cell Blastomycosis Blau Syndrome Bleeding Disorder, East Texas Type Bleeding Disorder, Platelet-Type, 11 Bleeding Disorder, Platelet-Type, 12 Bleeding Disorder, Platelet-Type, 13 Bleeding Disorder, Platelet-Type, 14 Bleeding Disorder, Platelet-Type, 15 Bleeding Disorder, Platelet-Type, 16 Bleeding Disorder, Platelet-Type, 17 Bleeding Disorder, Platelet-Type, 18 Bleeding Disorder, Platelet-Type, 19 Bleeding Disorder, Platelet-Type, 20 Bleeding Disorder, Platelet-Type, 21 Bleeding Disorder, Platelet-Type, 8 Bleeding Disorder, Platelet-Type, 9 Blepharochalasis and Double Lip Blepharocheilodontic Syndrome 1 Blepharocheilodontic Syndrome 2 Blepharonasofacial Malformation Syndrome Blepharo Naso Facial Syndrome Van Maldergem Type Blepharophimosis Blepharophimosis Intellectual Disability Syndromes Blepharophimosis, Ptosis, and Epicanthus Inversus Blepharophimosis with Facial and Genital Anomalies and Mental Retardation Blepharophimosis with Ptosis, Syndactyly, and Short Stature Blepharoptosis, Myopia, and Ectopia Lentis Blepharospasm Blepharospasm, Benign Essential Bloom Syndrome Blount's Disease Blount Disease, Infantile Blue Cone Monochromacy Blue Diaper Syndrome Blue Rubber Bleb Nevus Bobble-Head Doll Syndrome Body Mass Index Quantitative Trait Locus 11 Boerhaave Syndrome Bohring-Opitz Syndrome Bolivian Hemorrhagic Fever Bone Dysplasia Azouz Type Bone Dysplasia Corpus Callosum Agenesis Bone Dysplasia, Lethal, Holmgren Type Bone Dysplasia Moore Type Bone Fragility with Contractures, Arterial Rupture, and Deafness Bone Giant Cell Tumor Bone Marrow Failure Syndrome 1 Bone Marrow Failure Syndrome 2 Bone Marrow Necrosis Bone Mineral Density Quantitative Trait Locus 18 Book Syndrome Boomerang Dysplasia Borderline Epithelial Tumor of Ovary Borjeson-Forssman-Lehmann Syndrome Bork Stender Schmidt Syndrome Bornholm Eye Disease Borrone Di Rocco Crovato Syndrome Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Bosma Arhinia Microphthalmia Syndrome Bothnia Retinal Dystrophy Bothriocephalosis Botryoid Rhabdomyosarcoma Boucher-Neuhauser Syndrome Boudhina Yedes Khiari Syndrome Boutonneuse Fever Bowen's Disease Bowen-Conradi Syndrome Bowenoid Papulosis Bow Hunter's Stroke Bowing of Long Bones Congenital Boylan Dew Greco Syndrome Brachial Amelia, Cleft Lip, and Holoprosencephaly Brachioskeletogenital Syndrome Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation Brachydactylous Dwarfism Mseleni Type Brachydactyly Brachydactyly Absence of Distal Phalanges Brachydactyly Anonychia Brachydactyly, Combined B and E Types Brachydactyly-Distal Symphalangism Syndrome Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia Brachydactyly Elbow Wrist Dysplasia Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome Brachydactyly, Mononen Type Brachydactyly-Nystagmus-Cerebellar Ataxia Brachydactyly of Fingers Brachydactyly of Fingers, Bilateral Brachydactyly of Fingers, Unilateral Brachydactyly of Toes Brachydactyly of Toes, Bilateral Brachydactyly of Toes, Unilateral Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction Brachydactyly Small Stature Face Anomalies Brachydactyly-Syndactyly Syndrome Brachydactyly Tibial Hypoplasia Brachydactyly, Type A1 Brachydactyly, Type A1, B Brachydactyly, Type A1, C Brachydactyly, Type A1, D Brachydactyly, Type A2 Brachydactyly, Type A3 Brachydactyly, Type A4 Brachydactyly Type A5 Brachydactyly Type A7 Brachydactyly, Type B1 Brachydactyly, Type B2 Brachydactyly, Type C Brachydactyly, Type D Brachydactyly, Type E1 Brachydactyly, Type E2 Brachymesomelia-Renal Syndrome Brachymetapody-Anodontia-Hypotrichosis-Albinoidism Brachymorphism-Onychodysplasia-Dysphalangism Syndrome Brachyolmia Brachyolmia Type 2 Brachyolmia Type 3 Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia Brachytelephalangy with Characteristic Facies and Kallmann Syndrome Braddock Jones Superneau Syndrome Brain Cancer Brain Dopamine-Serotonin Vesicular Transport Disease Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome Brain Malformation-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome Brain Malformations with or Without Urinary Tract Defects Brain Small Vessel Disease with or Without Ocular Anomalies Brainstem Auditory Evoked Responses Brain Stem Cancer Brain Tumor, Childhood Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency Branchial Arch Defects Branchial Arch Syndrome, X-Linked Branchial Cleft Anomalies Branchiogenic-Deafness Syndrome Branchiooculofacial Syndrome Branchiootic Syndrome Branchiootic Syndrome 1 Branchiootic Syndrome 2 Branchiootic Syndrome 3 Branchiootorenal Spectrum Disorders Branchiootorenal Syndrome Branchiootorenal Syndrome 1 Branchiootorenal Syndrome 2 Brazilian Hemorrhagic Fever Brca1 Hereditary Breast and Ovarian Cancer Syndrome Brca2 Hereditary Breast and Ovarian Cancer Syndrome Breast Adenocarcinoma Breast Angiosarcoma Breast Benign Neoplasm Breast Cancer Breast Cancer, Childhood Breast Carcinoma in Situ Breast Fibroadenoma Breast Malignant Phyllodes Tumor Breast Metaplastic Carcinoma Breast-Ovarian Cancer, Familial 1 Breast-Ovarian Cancer, Familial 2 Breast-Ovarian Cancer, Familial 3 Breast-Ovarian Cancer, Familial 4 Breast Secretory Carcinoma Brenner Tumor of Ovary Brenner Tumor of the Vagina Brill-Zinsser Disease Brittle Bone Disorder Brittle Bone Syndrome Lethal Type Brittle Cornea Syndrome 1 Brittle Cornea Syndrome 2 Brittle Diabetes Brody Myopathy Broken Heart Syndrome Bronchial Adenomas/carcinoids Childhood Bronchial Endocrine Tumor Bronchiectasis Oligospermia Bronchiolitis Obliterans Bronchiolitis Obliterans with Obstructive Pulmonary Disease Bronchogenic Cyst Bronchomalacia Bronchopulmonary Dysplasia Brooke-Spiegler Syndrome Brooks-Wisniewski-Brown Syndrome Brown-Sequard Syndrome Brown Syndrome Brown-Vialetto-Van Laere Syndrome 2 Brucellosis Bruck Syndrome Bruck Syndrome 1 Bruck Syndrome 2 Brugada Syndrome Brugada Syndrome 1 Brugada Syndrome 2 Brugada Syndrome 3 Brugada Syndrome 4 Brugada Syndrome 5 Brugada Syndrome 6 Brugada Syndrome 7 Brugada Syndrome 8 Brugada Syndrome 9 Brunner Syndrome Brunsting-Perry Syndrome Bruyn Scheltens Syndrome Bubonic Plague Budd-Chiari Syndrome Buerger Disease Bullous Diffuse Cutaneous Mastocytosis Bullous Dystrophy, Hereditary Macular Type Bullous Impetigo Bullous Lichen Planus Bullous Pemphigoid Burkitt Lymphoma Burnett Schwartz Berberian Syndrome Burn Goodship Syndrome Burning Mouth Syndrome Burning Mouth Syndrome Type 3 Buruli Ulcer Buschke Lowenstein Tumor Buschke-Ollendorff Syndrome Bustos Simosa Pinto Cisternas Syndrome Butterfly-Shaped Pigment Dystrophy Byssinosis C1q Deficiency C1q Nephropathy Cafe-Au-Lait Spots, Multiple Caffey Disease Cahmr Syndrome Calabro Syndrome Calcification of Joints and Arteries Calcifying Aponeurotic Fibroma Calcifying Epithelial Odontogenic Tumor Calciphylaxis Calciphylaxis Cutis Callosities, Hereditary Painful Calloso-Genital Dysplasia Calvarial Hyperostosis Camera-Marugo-Cohen Syndrome Campomelia, Cumming Type Campomelic Dysplasia Camptobrachydactyly Camptocormism Camptodactyly 1 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Camptodactyly-Ichthyosis Syndrome Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye Camptodactyly Syndrome, Guadalajara, Type I Camptodactyly Syndrome, Guadalajara, Type Ii Camptodactyly Syndrome, Guadalajara, Type Iii Camptodactyly, Tall Stature, and Hearing Loss Syndrome Camptodactyly Taurinuria Camptodactyly Vertebral Fusion Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases Camptomelic Syndrome, Long-Limb Type Camurati-Engelmann Disease Camurati-Engelmann Disease, Type 2 Canavan Disease Cancer-Associated Retinopathy Candida Glabrata Candidiasis Candidiasis, Familial, 1 Candidiasis, Familial, 2 Candidiasis, Familial, 3 Candidiasis, Familial, 4 Candidiasis, Familial, 6 Candidiasis, Familial, 8 Candidiasis, Familial, 9 Canomad Syndrome Cantú Syndrome and Related Disorders Cantalamessa Baldini Ambrosi Syndrome Cantu Sanchez-Corona Fragoso Syndrome Cantu Sanchez-Corona Garcia-Cruz Syndrome Cantu Sanchez-Corona Hernandez Syndrome Cantu Syndrome Capillary Leak Syndrome Capillary Malformation-Arteriovenous Malformation Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth Capillary Malformations, Congenital Cap Myopathy Cap Polyposis Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to Carbon Baby Syndrome Carbonic Anhydrase Va Deficiency Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to Carbon Monoxide-Induced Parkinsonism Carcinofibroma of the Corpus Uteri Carcinoid Syndrome Carcinoid Tumor Childhood Carcinoid Tumors, Intestinal Carcinoma of Esophagus, Salivary Gland Type Carcinoma of Stomach, Salivary Gland Type Carcinoma of the Vocal Tract Carcinoma of Unknown Primary Site, Childhood Carcinoma Showing Thymus-Like Differentiation Carcinosarcoma of the Cervix Uteri Cardiac Anomalies-Heterotaxy Syndrome Cardiac Arrhythmia, Ankyrin-B-Related Cardiac Conduction Defect Cardiac Conduction Disease with or Without Dilated Cardiomyopathy Cardiac Diverticulum Cardiac Hydatid Cysts with Intracavitary Expansion Cardiac Rupture Cardiac Valvular Dysplasia, X-Linked Cardioauditory Syndrome of Sanchez Cascos Cardiocranial Syndrome Cardioencephalomyopathy Cardiofacial Syndrome Short Limbs Cardiofaciocutaneous Syndrome 1 Cardiofaciocutaneous Syndrome 2 Cardiofaciocutaneous Syndrome 3 Cardiofaciocutaneous Syndrome 4 Cardiogenic Shock Cardiomelic Syndrome Stratton Koehler Type Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation Cardiomyopathy Cataract Hip Spine Disease Cardiomyopathy Diabetes Deafness Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1dd Cardiomyopathy, Dilated, 1e Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 1g Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1jj Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m Cardiomyopathy, Dilated, 1nn Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 3b Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma Cardiomyopathy Due to Anthracyclines Cardiomyopathy, Familial Hypertrophic, 1 Cardiomyopathy, Familial Hypertrophic, 10 Cardiomyopathy, Familial Hypertrophic, 11 Cardiomyopathy, Familial Hypertrophic, 12 Cardiomyopathy, Familial Hypertrophic, 13 Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 15 Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 17 Cardiomyopathy, Familial Hypertrophic, 18 Cardiomyopathy, Familial Hypertrophic, 19 Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 20 Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic, 25 Cardiomyopathy, Familial Hypertrophic, 26 Cardiomyopathy, Familial Hypertrophic, 3 Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 6 Cardiomyopathy, Familial Hypertrophic, 7 Cardiomyopathy, Familial Hypertrophic, 8 Cardiomyopathy, Familial Hypertrophic, 9 Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification Cardiomyopathy Hypogonadism Metabolic Anomalies Cardiomyopathy, Infantile Histiocytoid Cardiomyopathy, Infantile Hypertrophic Cardiomyopathy-Renal Anomalies Syndrome Cardiomyopathy Spherocytosis Cardioskeletal Syndrome, Kuwaiti Type Cardiospondylocarpofacial Syndrome Carey-Fineman-Ziter Syndrome Carnevale Hernandez Castillo Syndrome Carney Complex, Type 1 Carney Complex, Type 2 Carney Complex Variant Carney Triad Carnitine-Acylcarnitine Translocase Deficiency Carnitine Deficiency, Myopathic Carnitine Deficiency, Systemic Primary Carnitine Palmitoyltransferase I Deficiency Carnitine Palmitoyltransferase I Deficiency , Muscle Carnitine Palmitoyltransferase Ii Deficiency, Infantile Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced Carnosinemia Caroli Disease Caroli Disease, Isolated Carotidynia Carpal Deformity Micrognathia Microstomia Carpenter Syndrome 1 Carpenter Syndrome 2 Carpotarsal Osteochondromatosis Carpo Tarsal Osteolysis Recessive Carrion's Disease Cartilage-Hair Hypoplasia Cartilaginous Cancer Cartwright Nelson Fryns Syndrome Cask-Related Disorders Caspase 8 Deficiency Cassavism Castleman Disease Catamenial Pneumothorax Cataract Cataract 10, Multiple Types Cataract 11, Multiple Types Cataract 12, Multiple Types Cataract 14, Multiple Types Cataract 15, Multiple Types Cataract 16, Multiple Types Cataract 17, Multiple Types Cataract 18 Cataract 19, Multiple Types Cataract 1, Multiple Types Cataract 20, Multiple Types Cataract 21, Multiple Types Cataract 22, Multiple Types Cataract 23, Multiple Types Cataract 24 Cataract 25 Cataract 26, Multiple Types Cataract 27 Cataract 28 Cataract 29 Cataract 2, Multiple Types Cataract 30 Cataract 30, Multiple Types Cataract 31, Multiple Types Cataract 32, Multiple Types Cataract 33 Cataract 33, Multiple Types Cataract 34, Multiple Types Cataract 35 Cataract 36 Cataract 37 Cataract 38 Cataract 39, Multiple Types Cataract 3, Multiple Types Cataract 40 Cataract 41 Cataract 42 Cataract 43 Cataract 44 Cataract 45 Cataract 46, Juvenile-Onset Cataract 47 Cataract 4, Multiple Types Cataract 5, Multiple Types Cataract 6, Multiple Types Cataract 7 Cataract 8, Multiple Types Cataract 9, Multiple Types Cataract, Aberrant Oral Frenula, and Growth Retardation Cataract, Age-Related Nuclear Cataract and Congenital Ichthyosis Cataract Ataxia Deafness Cataract-Ataxia-Deafness-Retardation Syndrome Cataract, Ataxia, Short Stature, and Mental Retardation Cataract Congenital Autosomal Dominant Cataract Congenital Dominant Non Nuclear Cataract, Congenital, with Microcornea or Slight Microphthalmia Cataract-Deafness-Hypogonadism Syndrome Cataract-Glaucoma Cataract Hutterite Type Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome Cataract Microcornea Syndrome Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia Cataract Skeletal Anomalies Cataract, Total Congenital Catastrophic Antiphospholipid Syndrome Catatrichy Catecholaminergic Polymorphic Ventricular Tachycardia Catecholaminergic Polymorphic Ventricular Tachycardia 5 Catel-Manzke Syndrome Cat Eye Syndrome Cat-Scratch Disease Cauda Equina Syndrome Caudal Appendage Deafness Caudal Duplication Anomaly Causalgia Cavernous Lymphangioma Cavitary Myiasis Cavitary Optic Disc Anomalies Cayler Cardiofacial Syndrome Cd4 Deficiency Cd8 Deficiency, Familial Cdags Syndrome Cdk4 Linked Melanoma Cdkl5-Related Disorder Celiac Disease 1 Celiac Disease 10 Celiac Disease 11 Celiac Disease 12 Celiac Disease 13 Celiac Disease 2 Celiac Disease 3 Celiac Disease 4 Celiac Disease 5 Celiac Disease 6 Celiac Disease 7 Celiac Disease 8 Celiac Disease 9 Celiac Trunk Compression Syndrome Cell Type Benign Neoplasm Cell Type Cancer Celosomia Cenani-Lenz Syndactyly Syndrome Cennamo Gangemi Syndrome Central Bilateral Macrogyria Central Centrifugal Cicatricial Alopecia Central Cloudy Dystrophy of Francois Central Congenital Hypothyroidism Central Core Disease of Muscle Central Hypoventilation Syndrome, Congenital Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome Central Nervous System Embryonal Carcinoma Central Nervous System Germinoma Central Nervous System Lymphoma Central Nervous System Teratoma Central Neurocytoma Centralopathic Epilepsy Central Pain Syndrome Central Polydactyly of Fingers Central Polydactyly of Fingers, Bilateral Central Polydactyly of Fingers, Unilateral Central Polydactyly of Toes Central Polydactyly of Toes, Bilateral Central Polydactyly of Toes, Unilateral Central Pontine Myelinolysis Central Precocious Puberty Central Retinal Vein Occlusion Central Serous Chorioretinopathy Centripetalis Recessive Dystrophic Epidermolysis Bullosa Centronuclear Myopathy Cercarial Dermatitis Cerebellar Agenesis Cerebellar Astrocytoma, Childhood Cerebellar Ataxia and Ectodermal Dysplasia Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss Cerebellar Ataxia, Cayman Type Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 Cerebellar Ataxia, Nonprogressive, with Mental Retardation Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Cerebellar Degeneration Cerebellar Hypoplasia Cerebellar Hypoplasia Tapetoretinal Degeneration Cerebellar Hypoplasia with Endosteal Sclerosis Cerebellar Liponeurocytoma Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome Cerebellofaciodental Syndrome Cerebello-Olivary Atrophy Cerebellum Agenesis Hydrocephaly Cerebral Amyloid Angiopathy, App-Related Cerebral Amyloid Angiopathy, Cst3-Related Cerebral Amyloid Angiopathy, Itm2b-Related, 1 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy Cerebral Atrophy Cerebral Calcification Cerebellar Hypoplasia Cerebral Calcifications Opalescent Teeth Phosphaturia Cerebral Cavernous Malformation, Familial Cerebral Cavernous Malformations Cerebral Cavernous Malformations 2 Cerebral Cavernous Malformations 3 Cerebral-Cerebellar-Coloboma Syndrome, X-Linked Cerebral Creatine Deficiency Syndrome 1 Cerebral Creatine Deficiency Syndrome 2 Cerebral Creatine Deficiency Syndrome 3 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome Cerebral Folate Deficiency Cerebral Gigantism Jaw Cysts Cerebral Palsy Cerebral Palsy, Ataxic, Autosomal Recessive Cerebral Palsy Athetoid Cerebral Sarcoma Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease Cerebral Sinovenous Thrombosis Cerebral Ventricle Cancer Cerebral Visual Impairment Cerebrocostomandibular-Like Syndrome Cerebrocostomandibular Syndrome Cerebrofacial Arteriovenous Metameric Syndrome Type 1 Cerebrofacial Arteriovenous Metameric Syndrome Type 3 Cerebro-Oculo-Facio-Skeletal Syndrome Cerebrooculonasal Syndrome Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula Cerebroretinal Microangiopathy with Calcifications and Cysts 1 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 Cerebrospinal Fluid Leak Cerebrotendinous Xanthomatosis Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 10 Ceroid Lipofuscinosis, Neuronal, 11 Ceroid Lipofuscinosis, Neuronal, 13 Ceroid Lipofuscinosis, Neuronal, 2 Ceroid Lipofuscinosis, Neuronal, 3 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 5 Ceroid Lipofuscinosis, Neuronal, 6 Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Storage Disease Cerulean Cataract Cervical Adenocarcinoma Cervical Adenoid Cystic Carcinoma Cervical Aortic Arch Cervical Dermoid Cyst Cervical Dystonia Cervical Hypertrichosis Peripheral Neuropathy Cervical Intraepithelial Neoplasia Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction Cervical Spina Bifida Aperta Cervical Spina Bifida Cystica Cervical Squamous Cell Carcinoma Cervicofacial Fibrochondroma Cervicothoracic Spina Bifida Aperta Cervicothoracic Spina Bifida Cystica Cervix Melanoma Chagas Disease Chanarin-Dorfman Syndrome Chancroid Chaotic Atrial Tachycardia Chapare Hemorrhagic Fever Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease and Deafness Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b Charcot-Marie-Tooth Disease, Axonal, Type 2b1 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2e Charcot-Marie-Tooth Disease, Axonal, Type 2f Charcot-Marie-Tooth Disease, Axonal, Type 2h Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2t Charcot-Marie-Tooth Disease, Axonal, Type 2u Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z Charcot-Marie-Tooth Disease, Demyelinating, Type 1a Charcot-Marie-Tooth Disease, Demyelinating, Type 1b Charcot-Marie-Tooth Disease, Demyelinating, Type 1c Charcot-Marie-Tooth Disease, Demyelinating, Type 1d Charcot-Marie-Tooth Disease, Demyelinating, Type 1f Charcot-Marie-Tooth Disease, Demyelinating, Type 4f Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Dominant Intermediate D Charcot-Marie-Tooth Disease, Dominant Intermediate E Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease, Recessive Intermediate a Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2a2 Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1 Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease, Type 4c Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 Charge Syndrome Charles Bonnet Syndrome Charlie M Syndrome Char Syndrome Chd2 Myoclonic Encephalopathy Chediak-Higashi Syndrome Cheilitis Glandularis Cheirospondyloenchondromatosis Cherubism Chester Porphyria Chiari Malformation Chiari Malformation Type 3 Chiari Malformation Type 4 Chiari Malformation Type I Chiari Malformation Type Ii Chikungunya Chilaiditi Syndrome Chilblain Lupus 1 Chilblain Lupus 2 Childhood Absence Epilepsy Childhood Apraxia of Speech Childhood Brain Stem Glioma Childhood Cerebral Astrocytoma Childhood Disintegrative Disease Childhood Hepatocellular Carcinoma Childhood Medulloblastoma Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy Childhood-Onset Motor and Cognitive Regression Syndrome with Extrapyramidal Movement Disorder Childhood-Onset Nemaline Myopathy Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome Childhood-Onset Schizophrenia Childhood Ovarian Cancer Childhood Type Dermatomyositis Children's Interstitial Lung Disease Chitayat Meunier Hodgkinson Syndrome Chitty Hall Webb Syndrome Choanal Atresia and Lymphedema Choanal Atresia, Bilateral Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome Choanal Atresia, Posterior Choanal Atresia, Unilateral Cholangiocarcinoma Cholangitis, Primary Sclerosing Cholecystitis Cholera Cholestasis, Benign Recurrent Intrahepatic, 1 Cholestasis, Benign Recurrent Intrahepatic, 2 Cholestasis-Lymphedema Syndrome Cholestasis, Progressive Familial Intrahepatic, 1 Cholestasis, Progressive Familial Intrahepatic, 2 Cholestasis, Progressive Familial Intrahepatic, 3 Cholestasis, Progressive Familial Intrahepatic, 4 Cholestasis, Progressive Familial Intrahepatic, 5 Cholesteatoma Cholesteatoma, Congenital Cholesterol Pneumonia Chondroblastoma Chondrocalcinosis Chondrocalcinosis 1 Chondrocalcinosis 2 Chondrocalcinosis Due to Apatite Crystal Deposition Chondrodysplasia Acromesomelic with Genital Anomalies Chondrodysplasia, Blomstrand Type Chondrodysplasia Calcificans Metaphysealis Chondrodysplasia, Grebe Type Chondrodysplasia Lethal Recessive Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density Chondrodysplasia-Pseudohermaphroditism Syndrome Chondrodysplasia Punctata 1, X-Linked Chondrodysplasia Punctata 1, X-Linked Recessive Chondrodysplasia Punctata 2, X-Linked Chondrodysplasia Punctata 2, X-Linked Dominant Chondrodysplasia Punctata, Autosomal Dominant Chondrodysplasia Punctata, Brachytelephalangic, Autosomal Chondrodysplasia Punctata, Humero-Metacarpal Type Chondrodysplasia Punctata Sheffield Type Chondrodysplasia Punctata Syndrome Chondrodysplasia Punctata, Tibia-Metacarpal Type Chondrodysplasia Punctata with Steroid Sulfatase Deficiency Chondrodysplasia Situs Inversus Imperforate Anus Polydactyly Chondrodysplasia with Joint Dislocations, Gpapp Type Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia Chondroectodermal Dysplasia with Night Blindness Chondroma Chondromyxoid Fibroma Chondrosarcoma Chondrosarcoma, Extraskeletal Myxoid Chops Syndrome Chordoid Glioma Chordoma Chorea, Benign Familial Chorea, Benign Hereditary Chorea Minor Chorea, Remitting, with Nystagmus and Cataract Choreoacanthocytosis Choreoacanthocytosis Amyotrophic Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction Choriocarcinoma Choriocarcinoma of the Central Nervous System Chorioretinal Atrophy, Progressive Bifocal Chorioretinitis Chorioretinopathy Dominant Form Microcephaly Choroidal Dystrophy, Central Areolar, 1 Choroidal Dystrophy, Central Areolar 2 Choroidal Dystrophy, Central Areolar, 3 Choroideremia Choroideremia, Deafness, and Mental Retardation Choroideremia Hypopituitarism Choroiditis Choroid Plexus Calcification and Mental Retardation Choroid Plexus Cancer Choroid Plexus Cyst Christian Demyer Franken Syndrome Christian Johnson Angenieta Syndrome Christianson Syndrome Chromhidrosis Chromoblastomycosis Chromophil Renal Cell Carcinoma Chromophobe Renal Cell Carcinoma Chromosomal Triplication Chromosome 10p Deletion Chromosome 10p Duplication Chromosome 10q22.3-Q23.2 Deletion Syndrome Chromosome 10q26 Deletion Syndrome Chromosome 10q Deletion Chromosome 10q Duplication Chromosome 10, Uniparental Disomy Chromosome 11p Deletion Chromosome 11p Duplication Chromosome 11q Duplication Chromosome 12p Deletion Chromosome 12p Duplication Chromosome 12q Deletion Chromosome 12q Duplication Chromosome 13q14 Deletion Syndrome Chromosome 13q Duplication Chromosome 14q11-Q22 Deletion Syndrome Chromosome 14q32 Duplication Syndrome, 700-Kb Chromosome 14q Deletion Chromosome 14q Duplication Chromosome 15q11.2 Deletion Syndrome Chromosome 15q11-Q13 Duplication Syndrome Chromosome 15q13.3 Deletion Syndrome Chromosome 15q14 Deletion Syndrome Chromosome 15q24 Deletion Syndrome Chromosome 15q25.2 Microdeletion Chromosome 15q26-Qter Deletion Syndrome Chromosome 15q Deletion Chromosome 15q Duplication Chromosome 15, Trisomy Mosaicism Chromosome 16 Inversion, 0.45-Mb Chromosome 16p11.2 Deletion Syndrome, 220-Kb Chromosome 16p11.2 Deletion Syndrome, 593-Kb Chromosome 16p11.2 Duplication Syndrome Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb Chromosome 16p13.3 Deletion Syndrome, Proximal Chromosome 16p13.3 Duplication Syndrome Chromosome 16p Duplication Chromosome 16q Deletion Chromosome 16q Duplication Chromosome 16 Trisomy Chromosome 16, Uniparental Disomy Chromosome 17p13.1 Deletion Syndrome Chromosome 17p13.3, Centromeric, Duplication Syndrome Chromosome 17p Deletion Chromosome 17p Duplication Chromosome 17q11.2 Deletion Syndrome Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb Chromosome 17q12 Deletion Syndrome Chromosome 17q12 Duplication Syndrome Chromosome 17q21.31 Duplication Syndrome Chromosome 17q23.1-Q23.2 Deletion Syndrome Chromosome 17q23.1-Q23.2 Duplication Syndrome Chromosome 17q Deletion Chromosome 17q Duplication Chromosome 18p Deletion Syndrome Chromosome 18p Duplication Chromosome 18 Pericentric Inversion Chromosome 18p Tetrasomy Chromosome 18q Deletion Syndrome Chromosome 18q Duplication Chromosome 19p13.13 Deletion Syndrome Chromosome 19p Deletion Chromosome 19p Duplication Chromosome 19q13.11 Deletion Syndrome Chromosome 19q13.11 Deletion Syndrome, Distal Chromosome 19q Deletion Chromosome 19q Duplication Chromosome 1p36 Deletion Syndrome Chromosome 1p Deletion Chromosome 1p Duplication Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb Chromosome 1q21.1 Duplication Syndrome Chromosome 1q41-Q42 Deletion Syndrome Chromosome 1q Deletion Chromosome 1, Uniparental Disomy 1q12 Q21 Chromosome 20p Deletion Chromosome 20p Duplication Chromosome 20q Deletion Chromosome 20q Duplication Chromosome 20 Trisomy Chromosome 21q Deletion Chromosome 21q Duplication Chromosome 21, Uniparental Disomy Chromosome 22q11.2 Deletion Syndrome, Distal Chromosome 22q11.2 Duplication Syndrome Chromosome 22q Deletion Chromosome 22q Duplication Chromosome 2p16.1-P15 Deletion Syndrome Chromosome 2p Deletion Chromosome 2p Duplication Chromosome 2q24 Microdeletion Syndrome Chromosome 2q35 Duplication Syndrome Chromosome 2q37 Deletion Syndrome Chromosome 2q Deletion Chromosome 2q Duplication Chromosome 3p Deletion Chromosome 3p Duplication Chromosome 3p- Syndrome Chromosome 3pter-P25 Deletion Syndrome Chromosome 3q13.31 Deletion Syndrome Chromosome 3q29 Deletion Syndrome Chromosome 3q29 Duplication Syndrome Chromosome 3q Deletion Chromosome 3q Duplication Chromosome 4p Deletion Chromosome 4p Duplication Chromosome 4q21 Deletion Syndrome Chromosome 4q Deletion Chromosome 4q Duplication Chromosome 5p13 Duplication Syndrome Chromosome 5p Duplication Chromosome 5q12 Deletion Syndrome Chromosome 5q Deletion Syndrome Chromosome 5q Duplication Chromosome 5, Uniparental Disomy Chromosome 6p Deletion Chromosome 6p Duplication Chromosome 6pter-P24 Deletion Syndrome Chromosome 6q24-Q25 Deletion Syndrome Chromosome 6q25 Microdeletion Syndrome Chromosome 6q Deletion Chromosome 6q Duplication Chromosome 7p Deletion Chromosome 7p Duplication Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb Chromosome 7q Duplication Chromosome 8p11 Myeloproliferative Syndrome Chromosome 8p23.1 Deletion Chromosome 8p Deletion Chromosome 8p Duplication Chromosome 8q12.1-Q21.2 Deletion Syndrome Chromosome 8q21.11 Deletion Syndrome Chromosome 8q22.1 Duplication Syndrome Chromosome 8q Deletion Chromosome 8q Duplication Chromosome 9 Inversion Chromosome 9p Deletion Syndrome Chromosome 9p Duplication Chromosome 9q Deletion Chromosome 9q Duplication Chromosome Xp11.23-P11.22 Duplication Syndrome Chromosome Xp11.3 Deletion Syndrome Chromosome Xp21 Deletion Syndrome Chromosome Xp Deletion Chromosome Xq26.3 Duplication Syndrome Chromosome Xq28 Deletion Syndrome Chromosome Xq Deletion Chromosome Xq Duplication Chronic Actinic Dermatitis Chronic Active Epstein-Barr Virus Infection Chronic Atrial and Intestinal Dysrhythmia Chronic Beryllium Disease Chronic Demyelinizing Neuropathy with Igm Monoclonal Chronic Diarrhea Due to Glucoamylase Deficiency Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity Chronic Endophthalmitis Chronic Enteropathy Associated with Slco2a1 Gene Chronic Eosinophilic Leukemia Chronic Eosinophilic Pneumonia Chronic Erosive Gastritis Chronic Fatigue Syndrome Chronic Graft Versus Host Disease Chronic Granulomatous Disease Chronic Hiccups Chronic Inflammatory Demyelinating Polyneuropathy Chronic Interstitial Cystitis Chronic Intestinal Failure Chronic Intestinal Pseudoobstruction Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids Chronic Meningitis Chronic Mountain Sickness Chronic Mucocutaneous Candidiasis Chronic Myelomonocytic Leukemia Chronic Neutrophilic Leukemia Chronic Orthostatic Intolerance Chronic Pain Chronic Pain Requiring Intraspinal Analgesia Chronic Pneumonitis of Infancy Chronic Polyradiculoneuritis Chronic Progressive External Ophthalmoplegia Chronic Rapidly Progressive Glomerulonephritis Chronic Recurrent Multifocal Osteomyelitis Chronic Relapsing Inflammatory Optic Neuropathy Chronic Thromboembolic Pulmonary Hypertension Chudley-Mccullough Syndrome Chudley Rozdilsky Syndrome Chylomicron Retention Disease Chylothorax, Congenital Cicatricial Pemphigoid Ciguatera Fish Poisoning Ciliary Discoordination Due to Random Ciliary Orientation Ciliary Dyskinesia-Bronchiectasis Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules Ciliary Dyskinesia, Primary, 1 Ciliary Dyskinesia, Primary, 10 Ciliary Dyskinesia, Primary, 11 Ciliary Dyskinesia, Primary, 12 Ciliary Dyskinesia, Primary, 13 Ciliary Dyskinesia, Primary, 14 Ciliary Dyskinesia, Primary, 15 Ciliary Dyskinesia, Primary, 16 Ciliary Dyskinesia, Primary, 17 Ciliary Dyskinesia, Primary, 18 Ciliary Dyskinesia, Primary, 19 Ciliary Dyskinesia, Primary, 2 Ciliary Dyskinesia, Primary, 20 Ciliary Dyskinesia, Primary, 21 Ciliary Dyskinesia, Primary, 22 Ciliary Dyskinesia, Primary, 23 Ciliary Dyskinesia, Primary, 24 Ciliary Dyskinesia, Primary, 25 Ciliary Dyskinesia, Primary, 26 Ciliary Dyskinesia, Primary, 27 Ciliary Dyskinesia, Primary, 28 Ciliary Dyskinesia, Primary, 29 Ciliary Dyskinesia, Primary, 3 Ciliary Dyskinesia, Primary, 30 Ciliary Dyskinesia, Primary, 32 Ciliary Dyskinesia, Primary, 33 Ciliary Dyskinesia, Primary, 34 Ciliary Dyskinesia, Primary, 35 Ciliary Dyskinesia, Primary, 37 Ciliary Dyskinesia, Primary, 4 Ciliary Dyskinesia, Primary, 5 Ciliary Dyskinesia, Primary, 6 Ciliary Dyskinesia, Primary, 7 Ciliary Dyskinesia, Primary, 8 Ciliary Dyskinesia, Primary, 9 Ciliary Dyskinesia with Defective Radial Spokes Ciliary Dyskinesia with Excessively Long Cilia Cinca Syndrome Circumscribed Cutaneous Aplasia of the Vertex Circumscribed Disseminated Keratosis Jadassohn Lew Type Circumscribed Palmoplantar Hypokeratosis Cirrhotic Cardiomyopathy Citrullinemia, Classic Citrullinemia, Type Ii, Adult-Onset Citrullinemia, Type Ii, Neonatal-Onset Citrulline Transport Defect Ck Syndrome Clark-Baraitser Syndrome Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency Classic Hairy Cell Leukemia Classic Hodgkin Lymphoma, Lymphocyte-Rich Type Classic Hodgkin Lymphoma, Mixed Cellularity Type Classic Mast Cell Leukemia Classic Neuroendocrine Tumor of Appendix Classic Paraneoplastic Limbic Encephalitis Classic Phenylketonuria Classic Progressive Supranuclear Palsy Syndrome Clavicle, Pseudarthrosis of, Congenital Clcn4-Related X-Linked Intellectual Disability Syndrome Clear Cell Adenocarcinoma of the Ovary Clear Cell Papillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Cleft Hard Palate Cleft Larynx, Posterior Cleft-Limb-Heart Malformation Syndrome Cleft Lip and Alveolus Cleft Lip and/or Palate with Mucous Cysts of Lower Cleft Lip and Palate Malrotation Cardiopathy Cleft Lip/palate Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome Cleft Lip Palate Dysmorphism Kumar Type Cleft Lip/palate-Ectodermal Dysplasia Syndrome Cleft Lip Palate Oligodontia Syndactyly Pili Torti Cleft Lip Palate Pituitary Deficiency Cleft Lip Palate-Tetraphocomelia Cleft Lip/palate with Abnormal Thumbs and Microcephaly Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease Cleft Lip-Retinopathy Syndrome Cleft Lower Lip Cleft Lateral Canthi Chorioretinal Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa Cleft Mitral Valve Cleft Palate Cardiac Defect Ectrodactyly Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly Cleft Palate Colobomata Radial Synostosis Deafness Cleft Palate, Deafness, and Oligodontia Cleft Palate Heart Disease Polydactyly Absent Tibia Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features Cleft Palate Short Stature Vertebral Anomalies Cleft Palate Stapes Fixation Oligodontia Cleft Palate with or Without Ankyloglossia, X-Linked Cleft Palate X-Linked Cleft Soft Palate Cleft Tongue Cleidocranial Dysplasia Cleidocranial Dysplasia, Recessive Form Cleidocranial Dysplasia Spectrum Disorder Cleidorhizomelic Syndrome Closed Iniencephaly Clostridium Perfringens Infection Clostridium Septicum Infection Clostridium Sordellii Infection Clouston Syndrome Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly Cluster Headache Cluster Headache, Familial Cluttering Cmv Antenatal Infection Coach Syndrome Coarctation of Aorta Coarse Face Hypotonia Constipation Coasy Protein-Associated Neurodegeneration Coats Disease Cobb Syndrome Cocaine Antenatal Exposure Cocaine Embryofetopathy Cocaine Intoxication Coccidioidomycosis Coccygodynia Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts Cochleosaccular Degeneration with Progressive Cataracts Cockayne Syndrome Cockayne Syndrome a Cockayne Syndrome B Cockayne Syndrome Type I Cockayne Syndrome Type Ii Cockayne Syndrome Type Iii Cocoon Syndrome Codas Syndrome Codeine Toxicity Coenzyme Q10 Deficiency Disease Coenzyme Q10 Deficiency, Primary, 2 Coenzyme Q10 Deficiency, Primary, 4 Coenzyme Q10 Deficiency, Primary, 5 Coenzyme Q10 Deficiency, Primary, 6 Coenzyme Q10 Deficiency, Primary, 7 Coenzyme Q Cytochrome C Reductase Deficiency of Coffin-Lowry Syndrome Coffin-Siris Syndrome 1 Coffin-Siris Syndrome 2 Coffin-Siris Syndrome 3 Coffin-Siris Syndrome 4 Coffin-Siris Syndrome 5 Coffin-Siris Syndrome 6 Coffin Syndrome 1 Cogan-Reese Syndrome Cogan Syndrome Cohen Lockood Wyborney Syndrome Cohen Syndrome Colchicine Poisoning Cold Agglutinin Disease Cold-Induced Sweating Syndrome Cold-Induced Sweating Syndrome 1 Cold-Induced Sweating Syndrome 2 Cold-Induced Sweating Syndrome 3 Cold Urticaria Cole-Carpenter Syndrome Cole Disease Collagenoma, Familial Cutaneous Collagenopathy Type 2 Alpha 1 Collagenopathy, Types Ii and Xi Collagenosis, Familial Reactive Perforating Collagenous Colitis Collagenous Gastritis Collagen Type Iii Glomerulopathy Collagen Vi Related Muscular Dystrophy Collecting Duct Carcinoma Collins Pope Syndrome Collins Sakati Syndrome Colloid Cysts of Third Ventricle Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome Coloboma, Ocular, Autosomal Dominant Coloboma, Ocular, Autosomal Recessive Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation Coloboma of Eye Lens Coloboma of Eyelid Coloboma of Inferior Eyelid Coloboma of Iris Coloboma of Macula Coloboma of Macula and Skeletal Anomalies Coloboma of Macula with Type B Brachydactyly Coloboma of Optic Nerve Coloboma of Optic Papilla Coloboma of Superior Eyelid Coloboma Porencephaly Hydronephrosis Colobomata Unilobar Lung Heart Defect Colobomatous Microphthalmia Colonic Atresia Colonic Malakoplakia Colon Squamous Cell Carcinoma Colorado Tick Fever Colorectal Cancer Colorectal Cancer 1 Colorectal Cancer 10 Colorectal Cancer 11 Colorectal Cancer 12 Colorectal Cancer 2 Colorectal Cancer 3 Colorectal Cancer 5 Colorectal Cancer 6 Colorectal Cancer 7 Colorectal Cancer 8 Colorectal Cancer 9 Colorectal Cancer, Childhood Colpocephaly Colver Steer Godman Syndrome Combarros Calleja Leno Syndrome Combined Cellular and Humoral Immune Defects with Granulomas Combined D-2- and L-2-Hydroxyglutaric Aciduria Combined Hamartoma of the Retina and Retinal Pigment Epithelium Combined Hyperactive Dysfunction Syndrome of the Cranial Nerves Combined Immunodeficiency Due to Crac Channel Dysfunction Combined Malonic and Methylmalonic Aciduria Combined Oxidative Phosphorylation Deficiency Combined Oxidative Phosphorylation Deficiency 1 Combined Oxidative Phosphorylation Deficiency 10 Combined Oxidative Phosphorylation Deficiency 11 Combined Oxidative Phosphorylation Deficiency 12 Combined Oxidative Phosphorylation Deficiency 13 Combined Oxidative Phosphorylation Deficiency 14 Combined Oxidative Phosphorylation Deficiency 15 Combined Oxidative Phosphorylation Deficiency 16 Combined Oxidative Phosphorylation Deficiency 17 Combined Oxidative Phosphorylation Deficiency 18 Combined Oxidative Phosphorylation Deficiency 19 Combined Oxidative Phosphorylation Deficiency 2 Combined Oxidative Phosphorylation Deficiency 20 Combined Oxidative Phosphorylation Deficiency 21 Combined Oxidative Phosphorylation Deficiency 23 Combined Oxidative Phosphorylation Deficiency 24 Combined Oxidative Phosphorylation Deficiency 25 Combined Oxidative Phosphorylation Deficiency 26 Combined Oxidative Phosphorylation Deficiency 27 Combined Oxidative Phosphorylation Deficiency 28 Combined Oxidative Phosphorylation Deficiency 29 Combined Oxidative Phosphorylation Deficiency 3 Combined Oxidative Phosphorylation Deficiency 30 Combined Oxidative Phosphorylation Deficiency 31 Combined Oxidative Phosphorylation Deficiency 4 Combined Oxidative Phosphorylation Deficiency 5 Combined Oxidative Phosphorylation Deficiency 6 Combined Oxidative Phosphorylation Deficiency 7 Combined Oxidative Phosphorylation Deficiency 8 Combined Oxidative Phosphorylation Deficiency 9 Combined Pituitary Hormone Deficiencies, Genetic Forms Combined Pulmonary Fibrosis-Emphysema Syndrome Combined Saposin Deficiency Commissural Lip Fistula Common Mesentery Common Variable Immunodeficiency Communicating Congenital Bronchopulmonary-Foregut Malformation Communicating Hydrocephalus Compartment Syndrome Complement Component 2 Deficiency Complement Component 3 Deficiency, Autosomal Recessive Complement Component 4, Partial Deficiency of Complement Component 5 Deficiency Complement Component 8 Deficiency, Type I Complement Component 8 Deficiency, Type Ii Complement Component Deficiency Complement Component Receptor 1 Complement Factor D Deficiency Complement Factor H Deficiency Complement Factor I Deficiency Complement Receptor Deficiency Complete Androgen Insensitivity Syndrome Complete Atrioventricular Canal Complete Atrioventricular Canal-Left Heart Obstruction Syndrome Complete Atrioventricular Canal-Tetralogy of Fallot Syndrome Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome Complete Cryptophthalmia Complete Septate Uterus Complex Regional Pain Syndrome Complication After Organ Transplantation Complication in Hemodialysis Composite Hemangioendothelioma Composite Lymphoma Condensing Osteitis of the Clavicle Condrodisplasia Punctata Rizomélica Cone Dystrophy Cone Dystrophy, X-Linked, with Tapetal-Like Sheen Cone-Rod Dystrophy 1 Cone-Rod Dystrophy 2 Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 5 Cone-Rod Dystrophy 6 Cone-Rod Dystrophy, X-Linked, 1 Cone-Rod Dystrophy, X-Linked, 2 Cone-Rod Dystrophy, X-Linked, 3 Confetti-Like Macular Atrophy Congenital Abducens Nerve Palsy Congenital Absence/hypoplasia of Fingers Excluding Thumb, Bilateral Congenital Absence/hypoplasia of Thumb Congenital Absence/hypoplasia of Thumb, Bilateral Congenital Absence/hypoplasia of Thumb, Unilateral Congenital Absence of Both Forearm and Hand Congenital Absence of Both Forearm and Hand, Bilateral Congenital Absence of Both Forearm and Hand, Unilateral Congenital Absence of Both Lower Leg and Foot Congenital Absence of Both Lower Leg and Foot, Bilateral Congenital Absence of Both Lower Leg and Foot, Unilateral Congenital Absence of the Sternocleidomastoid Muscle Congenital Absence of Thigh and Lower Leg with Foot Present Congenital Absence of Thigh and Lower Leg with Foot Present, Bilateral Congenital Absence of Thigh and Lower Leg with Foot Present, Unilateral Congenital Absence of Upper Arm and Forearm with Hand Present Congenital Absence of Upper Arm and Forearm with Hand Present, Bilateral Congenital Absence of Upper Arm and Forearm with Hand Present, Unilateral Congenital Achiasma Congenital Agenesis of the Scrotum Congenital Amputation Congenital Amyoplasia Congenital Analbuminemia Congenital Aneurysms of the Great Vessels Congenital Anomalies of Kidney and Urinary Tract 1 Congenital Anomalies of Kidney and Urinary Tract 2 Congenital Anomaly of Hepatic Vein Congenital Aortic Valve Insufficiency Congenital Aortopulmonary Window Congenital Arteriovenous Shunt Congenital Articular Rigidity Congenital Benign Spinal Muscular Atrophy Dominant Congenital Bilateral Megacalycosis Congenital Bronchobiliary Fistula Congenital Cardiovascular Shunt Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome Congenital Cataracts, Facial Dysmorphism, and Neuropathy Congenital Cataracts, Hearing Loss, and Neurodegeneration Congenital Cervical Spinal Stenosis Congenital Chloride Diarrhea Congenital Communicating Hydrocephalus Congenital Complete Agenesis of Pericardium Congenital Contractures Congenital Cornea Plana Congenital Coronary Artery Aneurysm Congenital Craniosynostosis Maternal Hyperthyroiditis Congenital Cystic Eye Congenital Cystic Eye Multiple Ocular and Intracranial Anomalies Congenital Cytomegalovirus Congenital Diarrhea Congenital Dislocation of the Patella Congenital Disorder of Deglycosylation Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Ib Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type if Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ih Congenital Disorder of Glycosylation, Type Ii Congenital Disorder of Glycosylation, Type Iia Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iic Congenital Disorder of Glycosylation, Type Iid Congenital Disorder of Glycosylation, Type Iif Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type Iih Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iij Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type Iil Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iin Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Iip Congenital Disorder of Glycosylation, Type Iiq Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type in Congenital Disorder of Glycosylation, Type Io Congenital Disorder of Glycosylation, Type Ip Congenital Disorder of Glycosylation, Type Iq Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type It Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Iw Congenital Disorder of Glycosylation, Type Ix Congenital Disorder of Glycosylation, Type Iy Congenital Disorder of Glycosylation with Developmental Anomaly Congenital Dyserythropoietic Anemia Congenital Ectodermal Dysplasia with Hearing Loss Congenital Ectropion Uveae Congenital Elbow Dislocation, Bilateral Congenital Elbow Dislocation, Unilateral Congenital Enterocyte Heparan Sulfate Deficiency Congenital Enterovirus Infection Congenital Epstein-Barr Virus Infection Congenital Epulis Congenital Erosive and Vesicular Dermatosis Congenital Esophageal Diverticulum Congenital Extrahepatic Portosystemic Shunt Congenital Eyelid Retraction Congenital Fiber-Type Disproportion Congenital Fibrosarcoma Congenital Generalized Hypercontractile Muscle Stiffness Syndrome Congenital Generalized Lipodystrophy Congenital Genu Flexum Congenital Genu Recurvatum Congenital Gerbode Defect Congenital Giant Megaureter Congenital Granular Cell Tumor Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly Congenital Heart Disease Ptosis Hypodontia Craniostosis Congenital Heart Disease Radio Ulnar Synostosis Mental Retardation Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Congenital Hemolytic Anemia Congenital Hepatic Fibrosis Congenital Hereditary Endothelial Dystrophy Type I Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome Congenital Herpes Simplex Congenital Herpes Simplex Virus Infection Congenital Human Immunodeficiency Virus Congenital Hypogammaglobulinemia Congenital Hypomyelination Neuropathy Congenital Hypoplastic Anemia Congenital Hypothyroidism Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies Congenital Hypotrichosis Milia Congenital Ichthyosiform Erythroderma Congenital Ichthyosis, Microcephalus, Quadriplegia Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome Congenital Insensitivity to Pain with Hyperhidrosis Congenital Insensitivity to Pain with Severe Intellectual Disability Congenital Intrauterine Infection-Like Syndrome Congenital Intrinsic Factor Deficiency Congenital Knee Dislocation Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome Congenital Laryngeal Cyst Congenital Laryngeal Palsy Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi Congenitally Corrected Transposition of the Great Arteries Congenital Lymphedema Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation Congenitally Uncorrected Transposition of the Great Arteries with Coarctation Congenital Megacalycosis Congenital Megalo-Ureter Congenital Membranous Nephropathy Due to Maternal Anti-Neutral Endopeptidase Alloimmunization Congenital Mesoblastic Nephroma Congenital Methemoglobinemia Congenital Microgastria Congenital Mitral Malformation Congenital Mitral Stenosis Congenital Mumps Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies Congenital Muscular Dystrophy Due to Dystroglycanopathy Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability Congenital Muscular Dystrophy Type 1a Congenital Muscular Dystrophy with Cerebellar Involvement Congenital Muscular Dystrophy with Hyperlaxity Congenital Muscular Dystrophy with Intellectual Disability Congenital Muscular Dystrophy Without Intellectual Disability Congenital Myasthenic Syndrome Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency Congenital Myasthenic Syndromes with Glycosylation Defect Congenital Myasthenic Syndrome with Episodic Apnea Congenital Myopathy, Paradas Type Congenital Myopathy with Myasthenic-Like Onset Congenital Myxovirus Congenital Nasal Pyriform Aperture Stenosis with Holoprosencephaly Congenital Nephrotic Syndrome Finnish Type Congenital Non-Communicating Hydrocephalus Congenital Nonhemolytic Jaundice Congenital Nystagmus Congenital Oculomotor Nerve Palsy Congenital Pancreatic Cyst Congenital Panfollicular Nevus Congenital Partial Agenesis of Pericardium Congenital Partial Pulmonary Venous Return Anomaly Congenital Patella Dislocation, Bilateral Congenital Patella Dislocation, Unilateral Congenital Patent Ductus Arteriosus Aneurysm Congenital Portosystemic Shunt Congenital Primary Megaureter Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form Congenital Primary Megaureter, Obstructed Form Congenital Primary Megaureter, Refluxing Form Congenital Pseudoarthrosis Congenital Pseudoarthrosis of the Femur Congenital Pseudoarthrosis of the Fibula Congenital Pseudoarthrosis of the Limbs Congenital Pseudoarthrosis of the Radius Congenital Pseudoarthrosis of the Tibia Congenital Pseudoarthrosis of the Ulna Congenital Ptosis Congenital Pulmonary Airway Malformation Type 0 Congenital Pulmonary Airway Malformation Type 1 Congenital Pulmonary Airway Malformation Type 2 Congenital Pulmonary Airway Malformation Type 3 Congenital Pulmonary Airway Malformation Type 4 Congenital Pulmonary Alveolar Proteinosis Congenital Pulmonary Sequestration Congenital Pulmonary Veins Atresia or Stenosis Congenital Radioulnar Synostosis Congenital Renal Artery Stenosis Congenital Retinal Arteriovenous Communication Congenital Rubella Congenital Short Bowel Syndrome Congenital Short Femur Congenital Shoulder Dislocation Congenital Sialidosis Type 2 Congenital Smooth Muscle Hamartoma Congenital Stationary Night Blindness Congenital Stenosis of Cervical Medullary Canal Congenital Stenosis of the Inferior Vena Cava Congenital Subglottic Stenosis Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance Congenital Supravalvular Mitral Ring Congenital Symblepharon Congenital Syphilis Congenital Systemic Arteriovenous Fistula Congenital Temporomandibular Joint Ankylosis Congenital Torticollis Congenital Toxoplasmosis Congenital Tracheal Stenosis Congenital Tricuspid Stenosis Congenital Trochlear Nerve Palsy Congenital Unguarded Mitral Orifice Congenital Unilateral Pulmonary Hypoplasia Congenital Vagal Hyperreflexivity Congenital Varicella Syndrome Congenital Vertical Talus, Bilateral Congenital Vertical Talus, Unilateral Congenital Zika Syndrome Conjunctivitis with Pseudomembrane Conn's Syndrome Cono-Spondylar Dysplasia Conotruncal Heart Malformations Constricting Bands, Congenital Continuous Muscle Fiber Activity Hereditary Continuous Spike-Wave During Slow Sleep Syndrome Contractures, Congenital, Torticollis, and Malignant Hyperthermia Contractures-Developmental Delay-Pierre Robin Syndrome Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome Conversion Disorder Convulsions Benign Familial Neonatal Dominant Form Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis Copper Deficiency, Familial Benign Coproporphyria, Hereditary Coq-Responsive Oxphos Deficiency Cor Biloculare Cordiform Uterus Cormier Rustin Munnich Syndrome Cornea Guttata with Anterior Polar Cataracts Corneal Dystrophy and Perceptive Deafness Corneal Dystrophy, Avellino Type Corneal Dystrophy, Congenital Stromal Corneal Dystrophy, Endothelial, X-Linked Corneal Dystrophy, Epithelial Basement Membrane Corneal Dystrophy, Fleck Corneal Dystrophy, Gelatinous Drop-Like Corneal Dystrophy, Groenouw Type I Corneal Dystrophy Ichthyosis Microcephaly Mental Retardation Corneal Dystrophy, Lattice Type I Corneal Dystrophy, Lattice Type Iiia Corneal Dystrophy, Lisch Epithelial Corneal Dystrophy, Meesmann Corneal Dystrophy Pigmentary Anomaly Malabsorption Corneal Dystrophy, Posterior Amorphous Corneal Dystrophy, Posterior Polymorphous, 1 Corneal Dystrophy, Posterior Polymorphous, 2 Corneal Dystrophy, Posterior Polymorphous, 3 Corneal Dystrophy, Reis-Bucklers Type Corneal Dystrophy, Subepithelial Mucinous Corneal Dystrophy, Thiel-Behnke Type Corneal Endothelial Dystrophy Corneal Endothelial Dystrophy Type 2 Corneal Hypesthesia, Familial Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation Cornea Plana Cornea Plana 1, Autosomal Dominant Cornea Plana 2, Autosomal Recessive Cornelia De Lange Syndrome Cornelia De Lange Syndrome 1 Cornelia De Lange Syndrome 2 Cornelia De Lange Syndrome 3 Cornelia De Lange Syndrome 4 Cornelia De Lange Syndrome 5 Corneodermatoosseous Syndrome Coronal Synostosis, Syndactyly and Jejunal Atresia Coronaro-Cardiac Fistula Coronary Arterial Fistulas Coronary Arteries Congenital Malformation Coronary Artery Aneurysm Coronary Artery Dissection, Spontaneous Coronary Artery Intramyocardial Course Coronary Sinus Atresia Coronary Sinus Stenosis Corpus Callosum Agenesis Double Urinary Collecting Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome Corpus Callosum, Agenesis of Corpus Callosum Agenesis of Blepharophimosis Robin Type Corpus Callosum, Agenesis of, with Abnormal Genitalia Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Corpus Callosum Dysgenesis Cleft Spasm Corpus Callosum Dysgenesis Hypopituitarism Corpus Callosum Dysgenesis X-Linked Recessive Corpus Callosum, Partial Agenesis of, X-Linked Cortada Koussef Matsumoto Syndrome Cortes Lacassie Syndrome Cortical Blindness-Intellectual Disability-Polydactyly Syndrome Cortical Blindness, Retardation, and Postaxial Polydactyly Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta Cortical Dysplasia, Complex, with Other Brain Malformations 1 Cortical Dysplasia, Complex, with Other Brain Malformations 7 Cortical Dysplasia, Complex, with Other Brain Malformations 8 Cortical Malformations, Occipital Corticobasal Degeneration Corticosteroid-Binding Globulin Deficiency Corticosteroid-Sensitive Aseptic Abscesses Corticosterone Methyloxidase Type I Deficiency Cortisone Reductase Deficiency Cor Triatriatum Cor Triatriatum Dexter Cor Triatriatum Sinister Costello Syndrome Costocoracoid Ligament, Congenitally Short Cote Katsantoni Syndrome Cough Headache Coumarin Resistance Cousin Syndrome Cowchock Syndrome Cowden Disease Cowden Syndrome 1 Cowden Syndrome 2 Cowden Syndrome 3 Cowden Syndrome 4 Cowden Syndrome 5 Cowden Syndrome 6 Cowden Syndrome 7 Coxa Vara Coxa Vara, Congenital Coxoauricular Syndrome Cramp-Fasciculation Syndrome Crandall Syndrome Crane-Heise Syndrome Cranial Meningocele Craniodiaphyseal Dysplasia Craniodiaphyseal Dysplasia, Autosomal Dominant Cranioectodermal Dysplasia 1 Cranioectodermal Dysplasia 2 Cranioectodermal Dysplasia 3 Cranioectodermal Dysplasia 4 Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation Craniofacial and Skeletal Defects Craniofacial Conodysplasia Craniofacial-Deafness-Hand Syndrome Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome Craniofacial Dysostosis Arthrogryposis Progeroid Appearence Craniofacial Dysostosis with Diaphyseal Hyperplasia Craniofacial Dyssynostosis Craniofacial Dyssynostosis with Short Stature Cranio-Facial Dystonia Craniofacial Microsomia Craniofaciofrontodigital Syndrome Craniofacioskeletal Syndrome Craniofrontonasal Syndrome Craniofrontonasal Syndrome Teebi Type Craniolenticulosutural Dysplasia Craniometadiaphyseal Dysplasia Craniometaphyseal Dysplasia, Autosomal Dominant Craniometaphyseal Dysplasia, Autosomal Recessive Craniomicromelic Syndrome Craniopharyngioma Craniorachischisis Craniorhiny Craniostenosis Cataract Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis Craniosynostosis Craniosynostosis 1 Craniosynostosis 2 Craniosynostosis 3 Craniosynostosis 4 Craniosynostosis 5 Craniosynostosis 6 Craniosynostosis 7 Craniosynostosis Alopecia Brain Defect Craniosynostosis and Dental Anomalies Craniosynostosis Arthrogryposis Cleft Palate Craniosynostosis Autosomal Dominant Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism Craniosynostosis-Cataract Syndrome Craniosynostosis Cleft Lip Palate Arthrogryposis Craniosynostosis Contractures Cleft Craniosynostosis Exostoses Nevus Epibulbar Dermoid Craniosynostosis Fontaine Type Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome Craniosynostosis Maroteaux Fonfria Type Craniosynostosis-Mental Retardation-Clefting Syndrome Craniosynostosis Mental Retardation Heart Defects Craniosynostosis Philadelphia Type Craniosynostosis Syndrome, Autosomal Recessive Craniosynostosis with Fibular Aplasia Craniotelencephalic Dysplasia Crawfurd Syndrome Creeping Myiasis Crest Syndrome Cretinism Athyreotic Creutzfeldt-Jakob Disease Cri-Du-Chat Syndrome Crigler-Najjar Syndrome, Type I Crigler-Najjar Syndrome, Type Ii Crimean-Congo Hemorrhagic Fever Criss-Cross Heart Crohn's Disease Crohn's Disease of the Esophagus Crome Syndrome Crossed Polydactyly Type 1 Crouzon Syndrome Crouzon Syndrome with Acanthosis Nigricans Crumpled Helices and Small Mouth Cryofibrinogenemia Cryofibrinogenemia, Familial Primary Cryoglobulinemia Cryoglobulinemia, Familial Mixed Cryohydrocytosis Cryopyrin-Associated Periodic Syndrome Cryptococcosis Cryptogenic Late-Onset Epileptic Spasms Cryptogenic Multifocal Ulcerous Stenosing Enteritis Cryptogenic Organizing Pneumonia Cryptomicrotia-Brachydactyly Syndrome Cryptophthalmos Cryptophthalmos, Unilateral or Bilateral, Isolated Cryptosporidiosis Crystal Arthropathies Cubitus Valgus with Mental Retardation and Unusual Facies Culler-Jones Syndrome Curariform Drugs Toxicity Curly Hair-Acral Keratoderma-Caries Syndrome Currarino Syndrome Curry-Jones Syndrome Cushing Syndrome Due to Macronodular Adrenal Hyperplasia Cushing Syndrome, Familial Cutaneous Anthrax Cutaneous Fibrous Histiocytoma Cutaneous Larva Migrans Cutaneous Lupus Erythematosus Cutaneous Mastocytoma Cutaneous Mastocytosis Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia Cutaneous Photosensitivity and Colitis, Lethal Cutaneous Polyarteritis Nodosa Cutaneous Pseudolymphoma Cutaneous Sclerosis Cutaneous-Skeletal Hypophosphatemia Syndrome Cutaneous T Cell Lymphoma Cutaneous Telangiectasia and Cancer Syndrome, Familial Cutaneus Colagenous Vasculopathy Cutis Gyratum Acanthosis Nigricans Craniosynostosis Cutis Laxa Cutis Laxa, Autosomal Dominant 1 Cutis Laxa, Autosomal Dominant 2 Cutis Laxa, Autosomal Dominant 3 Cutis Laxa, Autosomal Recessive Type 1 Cutis Laxa, Autosomal Recessive, Type Ia Cutis Laxa, Autosomal Recessive, Type Ib Cutis Laxa, Autosomal Recessive, Type Ic Cutis Laxa, Autosomal Recessive, Type Iia Cutis Laxa, Autosomal Recessive, Type Iib Cutis Laxa, Autosomal Recessive, Type Iic Cutis Laxa, Autosomal Recessive, Type Iid Cutis Laxa, Autosomal Recessive, Type Iiia Cutis Laxa, Autosomal Recessive, Type Iiib Cutis Laxa, Neonatal, with Marfanoid Phenotype Cutis Laxa Osteoporosis Cutis Marmorata Telangiectatica Congenita Cutis Verticis Gyrata Cutis Verticis Gyrata Mental Deficiency Cutler Bass Romshe Syndrome Cyanide-Induced Parkinsonism Cyanide Poisoning Cyclic Neutropenia Cyclic Vomiting Syndrome Cyclosporiasis Cylindrical Spirals Myopathy Cylindromatosis, Familial Cyprus Facial Neuromusculoskeletal Syndrome Cystathioninuria Cystic Adenomatoid Malformation of Lung Cystic Adventitial Disease Cystic Angiomatosis of Bone, Diffuse Cystic Echinococcosis Cysticercosis Cystic Fibrosis Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation Cystic Hygroma Lethal Cleft Palate Cystic Lymphangioma Cystic Medial Necrosis of Aorta Cystinosis Cystinosis, Adult Nonnephropathic Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type Cystinosis, Nephropathic Cystinuria Cystoisosporiasis Cytochrome P450 2d6 Variant Cytokine Deficiency Cytokine Receptor Deficiency Cytomegalic Congenital Adrenal Hypoplasia Cytomegalic Inclusion Disease Cytomegalovirus Disease in Patients with Impaired Cell Mediated Immunity Deemed at Risk Cytomegalovirus Retinitis Cytophagic Histiocytic Panniculitis Cytoplasmic Body Myopathy Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder Czech Dysplasia D-2-Hydroxyglutaric Aciduria 1 D-2-Hydroxyglutaric Aciduria 2 Daentl Towsend Siegel Syndrome Dahlberg Borer Newcomer Syndrome Daish Hardman Lamont Syndrome Dandy-Walker Complex Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy Dandy-Walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia Dandy-Walker Malformation with Postaxial Polydactyly Dandy-Walker Malformation with Sagittal Craniosynostosis and Hydrocephalus Dandy-Walker Syndrome Daneman Davy Mancer Syndrome Danon Disease Danubian Endemic Familial Nephropathy Dappled Diaphyseal Dysplasia Darier-White Disease Dauwerse-Peters Syndrome Davenport Donlan Syndrome Davis Lafer Syndrome D-Bifunctional Protein Deficiency Ddx3x-Related Intellectual Disability Deafness, Aminoglycoside-Induced Deafness and Myopia Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 13 Deafness, Autosomal Dominant 15 Deafness, Autosomal Dominant 16 Deafness, Autosomal Dominant 17 Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 21 Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 23 Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 27 Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 2a Deafness, Autosomal Dominant 2b Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 33 Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 40 Deafness, Autosomal Dominant 41 Deafness, Autosomal Dominant 43 Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 47 Deafness, Autosomal Dominant 48 Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 4a Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 5 Deafness, Autosomal Dominant 50 Deafness, Autosomal Dominant 51 Deafness, Autosomal Dominant 52 Deafness, Autosomal Dominant 53 Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 58 Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 6 Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 69 Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72 Deafness, Autosomal Dominant 73 Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 23 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 24 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 Deafness, Autosomal Recessive Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103 Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 105 Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108 Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 13 Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 16 Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 18a Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 2 Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 26 Deafness, Autosomal Recessive 27 Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 37 Deafness, Autosomal Recessive 38 Deafness, Autosomal Recessive 39 Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct Deafness, Autosomal Recessive 5 Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 55 Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 7 Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 71 Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 76 Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 8 Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 91 Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 97 Deafness, Autosomal Recessive 98 Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy Deafness, Conductive, with Malformed External Ear Deafness, Conductive, with Ptosis and Skeletal Anomalies Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Deafness, Congenital, with Onychodystrophy, Autosomal Dominant Deafness, Congenital, with Total Albinism Deafness, Congenital, with Vitiligo and Achalasia Deafness-Craniofacial Syndrome Deafness, Dystonia, and Cerebral Hypomyelination Deafness Enamel Hypoplasia Nail Defects Deafness, Epiphyseal Dysplasia, Short Stature Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome Deafness Goiter Stippled Epiphyses Deafness Hyperuricemia Neurologic Ataxia Deafness-Hypogonadism Syndrome Deafness Hypospadias Metacarpal and Metatarsal Syndrome Deafness-Infertility Syndrome Deafness, Isolated, Due to Mitochondrial Transmission Deafness-Lymphedema-Leukemia Syndrome Deafness Mesenteric Diverticula of Small Bowel Neuropathy Deafness Mixed with Perilymphatic Gusher, X-Linked Deafness Nephritis Anorectal Malformation Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy Deafness, Neurosensory Nonsyndromic Recessive, Dfn Deafness-Oligodontia Syndrome Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome Deafness Peripheral Neuropathy Arterial Disease Deafness Progressive Cataract Autosomal Dominant Deafness, Progressive, with Stapes Fixation Deafness with Labyrinthine Aplasia Microtia and Microdontia Deafness, X-Linked 1 Deafness, X-Linked 2 Deafness, X-Linked 3 Deafness, X-Linked 4 Deafness, X-Linked 5 Deafness, X-Linked 6 Deafness, X-Linked, Dfn Deafness X-Linked, Dfn3 Deafness, Y-Linked 1 De Barsy Syndrome Dedifferentiated Liposarcoma Deep Dermatophytosis Defective Apolipoprotein B-100 Degos 'en Cocarde' Erythrokeratoderma Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema Deletion 5q35 Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Dementia, Lewy Body Dementia Pugilistica Demodicidosis Demyelinating Polyneuropathy Dendritic Cell Tumor Dengue Disease Dengue Virus Dennis Fairhurst Moore Syndrome De Novo Thrombotic Microangiopathy After Kidney Transplantation Dense Deposit Disease Dens in Dente and Palatal Invaginations Dental Anomalies and Short Stature Dentatorubral-Pallidoluysian Atrophy Dent Disease 1 Dent Disease 2 Dentin Dysplasia Dentin Dysplasia, Type I Dentin Dysplasia, Type Ii Dentin Dysplasia with Sclerotic Bones Dentinogenesis Imperfecta Dentinogenesis Imperfecta 1 Dentinogenesis Imperfecta, Shields Type Iii Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome Dentinogenesis Imperfecta Type 2 Dentinogenesis Imperfecta Type 3 Denys-Drash Syndrome Depdc5-Related Epilepsy Depersonalization Disorder De Quervain Disease D Ercole Syndrome Der Kaloustian Mcintosh Silver Syndrome Dermatitis Herpetiformis Dermatitis Herpetiformis, Familial Dermatocardioskeletal Syndrome Boronne Type Dermato-Cardio-Skeletal Syndrome, Borrone Type Dermatofibrosarcoma Protuberans Dermatoleukodystrophy Dermatomyositis Dermatoosteolysis, Kirghizian Type Dermatopathia Pigmentosa Reticularis Dermochondrocorneal Dystrophy Dermochondrocorneal Dystrophy of François Dermographism, Familial Dermoid Cysts, Familial Frontonasal Dermoids of Cornea Dermoodontodysplasia Dermotrichic Syndrome De Sanctis-Cacchione Syndrome Desanto-Shinawi Syndrome Desbuquois Dysplasia Desbuquois Dysplasia 1 Desbuquois Dysplasia 2 Desmoid Disease, Hereditary Desmoid Tumor Desmoplastic Infantile Astrocytoma Desmoplastic Infantile Astrocytoma/ganglioglioma Desmoplastic Infantile Ganglioglioma Desmoplastic Small Round Cell Tumor Desmosterolosis Developmental Delay-Deafness Syndrome, Hildebrand Type Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair Developmental Dysplasia of the Hip 1 Devriendt Syndrome Dextrocardia Dextrocardia with Situs Inversus Dextrocardia with Unusual Facies and Microphthalmia Dextro-Looped Transposition of the Great Arteries Dfnb1 D-Glyceric Aciduria Dhdds-Cdg Diabetes and Deafness, Maternally Inherited Diabetes Insipidus Diabetes Insipidus, Nephrogenic, Autosomal Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification Diabetes Insipidus, Neurohypophyseal Diabetes Mellitus, 6q24-Related Transient Neonatal Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus, Insulin-Dependent, 10 Diabetes Mellitus, Insulin-Dependent, 11 Diabetes Mellitus, Insulin-Dependent, 12 Diabetes Mellitus, Insulin-Dependent, 13 Diabetes Mellitus, Insulin-Dependent, 15 Diabetes Mellitus, Insulin-Dependent, 17 Diabetes Mellitus, Insulin-Dependent, 18 Diabetes Mellitus, Insulin-Dependent, 19 Diabetes Mellitus, Insulin-Dependent, 2 Diabetes Mellitus, Insulin-Dependent, 20 Diabetes Mellitus, Insulin-Dependent, 21 Diabetes Mellitus, Insulin-Dependent, 22 Diabetes Mellitus, Insulin-Dependent, 23 Diabetes Mellitus, Insulin-Dependent, 24 Diabetes Mellitus, Insulin-Dependent, 3 Diabetes Mellitus, Insulin-Dependent, 4 Diabetes Mellitus, Insulin-Dependent, 5 Diabetes Mellitus, Insulin-Dependent, 6 Diabetes Mellitus, Insulin-Dependent, 7 Diabetes Mellitus, Insulin-Dependent, 8 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism Diabetes Mellitus, Permanent Neonatal Diabetes Mellitus, Transient Neonatal, 1 Diabetes Mellitus, Transient Neonatal, 2 Diabetes Mellitus, Transient Neonatal, 3 Diabetes Persistent Mullerian Ducts Diabetic Mastopathy Diamond-Blackfan Anemia Diamond-Blackfan Anemia 1 Diamond-Blackfan Anemia 10 Diamond-Blackfan Anemia 11 Diamond-Blackfan Anemia 12 Diamond-Blackfan Anemia 13 Diamond-Blackfan Anemia 16 Diamond-Blackfan Anemia 17 Diamond-Blackfan Anemia 2 Diamond-Blackfan Anemia 3 Diamond-Blackfan Anemia 4 Diamond-Blackfan Anemia 5 Diamond-Blackfan Anemia 6 Diamond-Blackfan Anemia 7 Diamond-Blackfan Anemia 8 Diamond-Blackfan Anemia 9 Dianzani Autoimmune Lymphoproliferative Disease Diaphanospondylodysostosis Diaphragmatic Agenesis Radial Aplasia Omphalocele Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull Diaphragmatic Hernia 2 Diaphragmatic Hernia 3 Diaphragmatic Hernia, Congenital Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis Diaphragmatic Hernia Upper Limb Defects Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma Diarrhea Diarrhea 1, Secretory Chloride, Congenital Diarrhea 2, with Microvillus Atrophy Diarrhea 4, Malabsorptive, Congenital Diarrhea 5, with Tufting Enteropathy, Congenital Diarrhea 6 Diarrhea 7 Diarrhea 8, Secretory Sodium, Congenital Diarrhea, Chronic, with Villous Atrophy Diastematomyelia Diastrophic Dysplasia Dibasic Amino Aciduria I Dicarboxylic Aminoaciduria Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome Didelphys Uterus Didymosis Aplasticosebacea Diencephalic-Mesencephalic Junction Dysplasia Diencephalic Syndrome Die Smulders Droog Van Dijk Syndrome Die Smulders Vles Fryns Syndrome Dieterich's Disease Diethylstilbestrol Syndrome Dieulafoy Lesion Differentiated Thyroid Carcinoma Diffuse Alveolar Hemorrhage Diffuse Cavernous Hemangioma of the Rectum Diffuse Cutaneous Mastocytosis Diffuse Cutaneous Systemic Sclerosis Diffuse Dermal Angiomatosis Diffuse Gastric Cancer Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia Diffuse Idiopathic Skeletal Hyperostosis Diffuse Intrinsic Pontine Glioma Diffuse Large B-Cell Lymphoma Diffuse Large B-Cell Lymphoma of the Central Nervous System Diffuse Large B-Cell Lymphoma with Chronic Inflammation Diffuse Leptomeningeal Melanocytosis Diffuse Lymphatic Malformation Diffuse Mesangial Sclerosis Diffuse Neonatal Hemangiomatosis Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome Diffuse Palmoplantar Keratoderma, Bothnian Type Digeorge Syndrome/velocardiofacial Syndrome Complex 2 Digestive Duplication Digestive Duplication Cyst of the Tongue Digestive System Melanoma Digital Anomalies-Intellectual Disability-Short Stature Syndrome Digital Arthropathy-Brachydactyly, Familial Digital Clubbing, Isolated Congenital Digitalis Poisoning Digitotalar Dysmorphism Dihydrolipoamide Dehydrogenase Deficiency Dihydropyrimidinase Deficiency Dihydropyrimidine Dehydrogenase Deficiency Dihydroxyadeninuria Dilated Cardiomyopathy Dilated Cardiomyopathy 1t Dimethylglycine Dehydrogenase Deficiency Diomedi Bernardi Placidi Syndrome Diphallia Diphallus Rachischisis Imperforate Anus Diphtheria Diphyllobothriasis Diploid-Triploid Mosaicism Diprosopia Diprosopus Dipsogenic Diabetes Insipidus Dirofilariasis Discoid Fibromas, Familial Multiple Discoid Lupus Erythematosus Discrete Fibromuscular Subaortic Stenosis Discrete Papular Lichen Myxedematosus Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency Disorder of Peroxisomal Alpha-, Beta- and Omega-Oxidation Disorders of Intracellular Cobalamin Metabolism Disorders with Deficiency of a Single Peroxisomal Enzyme Disproportionate Short Stature with Ptosis and Valvular Heart Lesions Disseminated Infection with Mycobacterium Avium Complex Disseminated Peritoneal Leiomyomatosis Dissociative Seizures Distal 17p13.3 Microdeletion Syndrome Distal 22q11.2 Microduplication Syndrome Distal 7q11.23 Microduplication Syndrome Distal Arthrogryposis Distal Arthrogryposis with Hypopituitarism, Intellectual Disability and Facial Anomalies Distal Chromosome 18q Deletion Syndrome Distal Hereditary Motor Neuropathies Distal Hereditary Motor Neuropathy Type 7 Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy, Type V Distal Monosomy 12p Distal Monosomy 12q Distal Monosomy 14q Distal Monosomy 19p13.3 Distal Monosomy 20q Distal Monosomy 4q Distal Monosomy 7p Distal Monosomy 7q36 Distal Monosomy 9p Distal Myopathy with Vocal Cord Weakness Distal Primary Acidosis, Familial Distal Trisomy 10q Distal Trisomy 11q Distal Trisomy 13q Distal Trisomy 14q Distal Trisomy 15q Distal Trisomy 16q Distal Trisomy 17q Distal Trisomy 18q Distal Trisomy 19q Distal Trisomy 1p36 Distal Trisomy 20q Distal Trisomy 22q Distal Trisomy 2p Distal Trisomy 2q Distal Trisomy 3p Distal Trisomy 4q Distal Trisomy 5q Distal Trisomy 6p Distal Trisomy 6q Distal Trisomy 7p Distal Trisomy 8q Distal Trisomy 9q Distal Xq28 Microduplication Syndrome Distichiasis Distichiasis Heart Congenital Anomalies Distomatosis Diverticulosis of Bowel, Hernia, and Retinal Detachment Dk Phocomelia Syndrome D-Minus Hemolytic Uremic Syndrome Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 Dobrow Syndrome Dock2 Deficiency Dominant Cleft Palate Dominant Dystrophic Epidermolysis Bullosa Dominant Dystrophic Epidermolysis Bullosa, Nails Only Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis Dominant Ichthyosis Vulgaris Donnai-Barrow Syndrome Donohue Syndrome Dopamine Beta-Hydroxylase Deficiency, Congenital Dopa-Responsive Dystonia; Segawa Syndrome Ad Double Discordia Double Fingernail of Fifth Finger Double Inferior Vena Cava Double Nails on the Fifth Toe Double-Orifice Mitral Valve Double Outlet Left Ventricle Double Outlet Right Atrium Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis Double Uterus-Hemivagina-Renal Agenesis Doughnut Lesions of Skull, Familial Dowling-Degos Disease Dowling-Degos Disease 1 Dowling-Degos Disease 2 Dowling-Degos Disease 3 Dowling-Degos Disease 4 Down Syndrome Doxorubicin Induced Cardiomyopathy Doyne Honeycomb Retinal Dystrophy D-Plus Hemolytic Uremic Syndrome Drachtman Weinblatt Sitarz Syndrome Dracunculiasis Drug-Induced Autoimmune Hemolytic Anemia Drug Induced Dyskinesia Drug-Induced Lupus Erythematosus Drug-Induced Vasculitis Drug Metabolism, Poor, Cyp2c19-Related Drug or Radiation Exposure-Related Interstitial Lung Disease Drug Rash with Eosinophilia and Systemic Symptoms Drug-Related Renal Tubular Dysgenesis Duane Anomaly-Myopathy-Scoliosis Syndrome Duane-Radial Ray Syndrome Duane Retraction Syndrome Duane Retraction Syndrome 1 Duane Retraction Syndrome 2 Duane Syndrome Type 1 Duane Syndrome Type 2 Duane Syndrome Type 3 Duarte Variant Galactosemia Dubin-Johnson Syndrome Dubowitz Syndrome Duker Weiss Siber Syndrome Duodenal Atresia Duodenal Atresia Tetralogy of Fallot Duodenal Ulcer Duodenal Ulcer Due to Antral G-Cell Hyperfunction Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery, and Absent Superior Mesenteric Artery Duplication of Leg Mirror Foot Duplication of the Pituitary Gland Duplication of the Thumb Unilateral Biphalangeal Duplication of Urethra Dupont Sellier Chochillon Syndrome Dupuytren Contracture Dural Sinus Malformation Dwarfism Dwarfism Bluish Sclerae Dwarfism Deafness Retinitis Pigmentosa Dwarfism, Familial, with Muscle Spasms Dwarfism Lethal Type Advanced Bone Age Dwarfism, Levi Type Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone Dwarfism, Proportionate, with Hip Dislocation Dwarfism Thin Bones Multiple Fractures Dyggve-Melchior-Clausen Disease Dykes Markes Harper Syndrome Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion Dysautonomia Dysautonomia-Like Disorder Dyschondrosteosis and Nephritis Dyschromatosis Symmetrica Hereditaria Dyschromatosis Universalis Hereditaria Dyschromatosis Universalis Hereditaria 1 Dyschromatosis Universalis Hereditaria 2 Dyschromatosis Universalis Hereditaria 3 Dysembryoplastic Neuroepithelial Tumor Dysferlinopathy Dysfibrinogenemia Dysfibrinogenemia, Congenital Dysgnathia Complex Dyskeratosis Congenita Dyskeratosis Congenita Autosomal Dominant Dyskeratosis Congenita, Autosomal Dominant 1 Dyskeratosis Congenita, Autosomal Dominant 2 Dyskeratosis Congenita, Autosomal Dominant 3 Dyskeratosis Congenita, Autosomal Dominant 6 Dyskeratosis Congenita Autosomal Recessive Dyskeratosis Congenita, Autosomal Recessive 1 Dyskeratosis Congenita, Autosomal Recessive 2 Dyskeratosis Congenita, Autosomal Recessive 3 Dyskeratosis Congenita, Autosomal Recessive 5 Dyskeratosis Congenita, Autosomal Recessive 6 Dyskeratosis Congenita, X-Linked Dyskeratosis, Hereditary Benign Intraepithelial Dyskinesia, Familial, with Facial Myokymia Dyskinesia, Limb and Orofacial, Infantile-Onset Dyskinesia, Seizures, and Intellectual Developmental Disorder Dysmorphism Cleft Palate Loose Skin Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome Dysosteosclerosis Dysphagia Lusoria Dysphasia, Familial Developmental Dysplasia Epiphysealis Hemimelica Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas Dysplasia of Head of Femur, Meyer Type Dysplastic Cortical Hyperostosis Dysplastic Nevus Syndrome Dyssegmental Dysplasia, Rolland-Desbuquois Type Dyssegmental Dysplasia, Silverman-Handmaker Type Dyssegmental Dysplasia with Glaucoma Dysspondyloenchondromatosis Dystelephalangy Dystonia Dystonia 11, Myoclonic Dystonia 12 Dystonia 13, Torsion, Autosomal Dominant Dystonia 15, Myoclonic Dystonia 16 Dystonia 17, Torsion, Autosomal Recessive Dystonia 1, Torsion, Autosomal Dominant Dystonia 21 Dystonia 23 Dystonia 24 Dystonia 25 Dystonia 26, Myoclonic Dystonia 27 Dystonia 2, Torsion, Autosomal Recessive Dystonia 3, Torsion, X-Linked Dystonia 4, Torsion, Autosomal Dominant Dystonia 6, Torsion Dystonia 7, Torsion Dystonia 9 Dystonia-Aphonia Syndrome Dystonia, Dopa-Responsive Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency Dystonia, Juvenile-Onset Dystrophinopathies Eaf Eagle Syndrome Eales Disease Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities Early Congenital Syphilis Early Invasive Cervical Adenocarcinoma Early Myoclonic Encephalopathy Early Onset Absence Epilepsy Early-Onset Anterior Polar Cataract Early-Onset, Autosomal Dominant Alzheimer Disease Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation Early-Onset Familial Alzheimer Disease Early-Onset Generalized Dystonia Early-Onset Generalized Limb-Onset Dystonia Early-Onset Glaucoma Early-Onset Non-Syndromic Cataract Early-Onset Nuclear Cataract Early-Onset Parkinson Disease Early-Onset Parkinsonism-Intellectual Disability Syndrome Early-Onset Partial Cataract Early-Onset Posterior Subcapsular Cataract Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome Early-Onset Schizophrenia Early-Onset Zonular Cataract Eastern Equine Encephalitis Eating Reflex Epilepsy Ebola Hemorrhagic Fever Ebstein Anomaly Eccentrochondrodysplasia Eccrine Mucinous Carcinoma Eccrine Papillary Adenoma Eccrine Porocarcinoma Echinococcosis Eclampsia Ectasia of the Left Atrial Appendage Ectasia of the Right Atrial Appendage Ectodermal Dysplasia Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive Ectodermal Dysplasia 1, Hypohidrotic, X-Linked Ectodermal Dysplasia 4, Hair/nail Type Ectodermal Dysplasia 5, Hair/nail Type Ectodermal Dysplasia 6, Hair/nail Type Ectodermal Dysplasia 7, Hair/nail Type Ectodermal Dysplasia 8, Hair/tooth/nail Type Ectodermal Dysplasia 9, Hair/nail Type Ectodermal Dysplasia Alopecia Preaxial Polydactyly Ectodermal Dysplasia and Neurosensory Deafness Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Ectodermal Dysplasia Arthrogryposis Diabetes Mellitus Ectodermal Dysplasia Bartalos Type Ectodermal Dysplasia Berlin Type Ectodermal Dysplasia Blindness Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency Ectodermal Dysplasia Intellectual Disability Cns Malformation Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features Ectodermal Dysplasia/short Stature Syndrome Ectodermal Dysplasia/skin Fragility Syndrome Ectodermal Dysplasia-Syndactyly Syndrome 1 Ectodermal Dysplasia-Syndactyly Syndrome 2 Ectodermal Dysplasia, Trichoodontoonychial Type Ectodermal Dysplasia with Natal Teeth, Turnpenny Type Ectomesenchymoma Ectopia Cordis Ectopia Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis 2, Isolated, Autosomal Recessive Ectopia Pupillae Ectopic Aldosterone-Producing Tumor Ectopic Cushing Syndrome Ectopic Pregnancy Ectrodactyly Cardiopathy Dysmorphism Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 Ectrodactyly-Polydactyly Edict Syndrome Edinburgh Malformation Syndrome Efavirenz, Poor Metabolism of Ehlers-Danlos/osteogenesis Imperfecta Syndrome Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 Ehlers-Danlos Syndrome, Cardiac Valvular Type Ehlers-Danlos Syndrome, Classic-Like Ehlers-Danlos Syndrome, Classic Type, 1 Ehlers-Danlos Syndrome, Classic Type, 2 Ehlers-Danlos Syndrome, Dermatosparaxis Type Ehlers-Danlos Syndrome, Hypermobility Type Ehlers-Danlos Syndrome, Kyphoscoliotic Form Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 Ehlers-Danlos Syndrome, Periodontal Type, 1 Ehlers-Danlos Syndrome, Periodontal Type, 2 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 Ehlers-Danlos Syndrome Type 2 Ehlers-Danlos Syndrome, Type V Ehlers-Danlos Syndrome, Vascular-Like Type Ehlers-Danlos Syndrome, Vascular Type Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality Ehrlichiosis Eiken Syndrome Eisenmenger Syndrome Elastoderma Elastofibroma Dorsi Elastoma Elastosis Perforans Serpiginosa Elective Mutism Elizabethkingia Anophelis Infection Elliott Ludman Teebi Syndrome Elliptocytosis 1 Elliptocytosis 2 Ellis-Van Creveld Syndrome Ellis Yale Winter Syndrome Emanuel Syndrome Embryonal Carcinoma Embryonal Rhabdomyosarcoma Embryonal Sarcoma Embryonal Tumor with Multilayered Rosettes Embryonary Disorganization Syndrome Emerinopathy Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy 1, X-Linked Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy, Dominant Type Emery-Dreifuss Muscular Dystrophy, X-Linked Emilin-1-Related Connective Tissue Disease Emphysema, Congenital Lobar Empty Sella Syndrome Enamel Hypoplasia Cataract Hydrocephaly Encephalitis Encephalocele Encephalocele Anencephaly Encephalocraniocutaneous Lipomatosis Encephalomyopathy Encephalopathy Encephalopathy, Acute, Infection-Induced 4 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 Encephalopathy Due to Prosaposin Deficiency Encephalopathy, Ethylmalonic Encephalopathy, Familial, with Neuroserpin Inclusion Bodies Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities Encephalopathy, Progressive, with or Without Lipodystrophy Encephalopathy, Recurrent, of Childhood Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration Enchondroma Enchondromatosis Dwarfism Deafness Enchondromatosis, Multiple, Ollier Type Encircling Double Aortic Arch Endemic Kaposi Sarcoma Endemic Typhus Endocardial Fibroelastosis Endocrine-Cerebroosteodysplasia Endolymphatic Sac Tumor Endometrial Adenosquamous Carcinoma Endometrial Cancer Endometrial Stromal Sarcoma Endometrioid Ovary Carcinoma Endometriosis Endometriosis 1 Endomyocardial Fibroelastosis Endomyocardial Fibrosis Endophthalmitis Endosteal Hyperostosis, Autosomal Dominant Endotheliitis Engelhard Yatziv Syndrome Engraftment Syndrome Enhanced S-Cone Syndrome Enterokinase Deficiency Enteropathica Enteropathy-Associated T-Cell Lymphoma Enterovesical Fistula Enterovirus Antenatal Infection Enthesitis-Related Juvenile Idiopathic Arthritis Envenomization by Bothrops Lanceolatus Eosinophilia, Familial Eosinophilia-Myalgia Syndrome Eosinophilic Colitis Eosinophilic Cryptitis Eosinophilic Cystitis Eosinophilic Enteropathy Eosinophilic Fasciitis Eosinophilic Gastroenteritis Eosinophilic Granuloma Eosinophilic Granulomatosis with Polyangiitis Eosinophilic Mastitis Eosinophilic Pneumonia Eosinophilic Pustular Folliculitis Eosinophil Peroxidase Deficiency Ependymoblastoma Ependymoma Epiblepharon Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome Epidemic Typhus Epidermal Nevus Vitamin D Resistant Rickets Epidermodysplasia Verruciformis Epidermoid Brain Cyst Epidermolysa Bullosa Simplex with Muscular Dystrophy Epidermolysis Bullosa Epidermolysis Bullosa Acquisita Epidermolysis Bullosa Dystrophica Epidermolysis Bullosa Dystrophica, Autosomal Dominant Epidermolysis Bullosa Dystrophica, Autosomal Recessive Epidermolysis Bullosa Dystrophica, Pretibial Epidermolysis Bullosa, Junctional, Herlitz Type Epidermolysis Bullosa Junctionalis with Pyloric Atresia Epidermolysis Bullosa, Junctional, Non-Herlitz Type Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation Epidermolysis Bullosa, Lethal Acantholytic Epidermolysis Bullosa, Nonspecific, Autosomal Recessive Epidermolysis Bullosa Pruriginosa Epidermolysis Bullosa Simplex Epidermolysis Bullosa Simplex, Autosomal Recessive 1 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 Epidermolysis Bullosa Simplex, Dowling-Meara Type Epidermolysis Bullosa Simplex, Generalized Epidermolysis Bullosa Simplex, Localized Epidermolysis Bullosa Simplex, Ogna Type Epidermolysis Bullosa Simplex Superficialis Epidermolysis Bullosa Simplex with Anodontia/hypodontia Epidermolysis Bullosa Simplex with Migratory Circinate Erythema Epidermolysis Bullosa Simplex with Mottled Pigmentation Epidermolysis Bullosa Simplex with Muscular Dystrophy Epidermolysis Bullosa Simplex with Pyloric Atresia Epidermolytic Hyperkeratosis Epidermolytic Nevus Epignathus Epilepsy Epilepsy, Benign Occipital Epilepsy, Childhood Absence 1 Epilepsy, Childhood Absence 2 Epilepsy, Childhood Absence 5 Epilepsy, Childhood Absence 6 Epilepsy, Familial Adult Myoclonic, 1 Epilepsy, Familial Adult Myoclonic, 2 Epilepsy, Familial Adult Myoclonic, 3 Epilepsy, Familial Adult Myoclonic, 4 Epilepsy, Familial Adult Myoclonic, 5 Epilepsy, Familial Focal, with Variable Foci 1 Epilepsy, Familial Focal, with Variable Foci 2 Epilepsy, Familial Focal, with Variable Foci 3 Epilepsy, Familial Temporal Lobe, 2 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation Epilepsy, Hearing Loss, and Mental Retardation Syndrome Epilepsy, Idiopathic Generalized Epilepsy, Idiopathic Generalized 10 Epilepsy, Idiopathic Generalized 11 Epilepsy, Idiopathic Generalized 12 Epilepsy, Idiopathic Generalized 13 Epilepsy, Idiopathic Generalized 14 Epilepsy, Idiopathic Generalized 2 Epilepsy, Idiopathic Generalized 3 Epilepsy, Idiopathic Generalized 4 Epilepsy, Idiopathic Generalized 5 Epilepsy, Idiopathic Generalized 7 Epilepsy, Idiopathic Generalized 8 Epilepsy, Idiopathic Generalized 9 Epilepsy, Juvenile Absence 1 Epilepsy, Juvenile Myoclonic 9 Epilepsy Mental Deterioration Finnish Type Epilepsy, Myoclonic Juvenile Epilepsy Occipital Calcifications Epilepsy, Partial, Familial Epilepsy, Progressive Myoclonic, 10 Epilepsy, Progressive Myoclonic, 1b Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure Epilepsy, Progressive Myoclonic, 6 Epilepsy, Progressive Myoclonic 7 Epilepsy, Progressive Myoclonic, 8 Epilepsy, Progressive Myoclonic, 9 Epilepsy Progressive Myoclonic Type 3 Epilepsy, Pyridoxine-Dependent Epilepsy, Reading Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp Epilepsy-Telangiectasia Epilepsy with Bilateral Occipital Calcifications Epilepsy with Myoclonic Absences Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 11 Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13 Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15 Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17 Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19 Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23 Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 25 Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28 Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32 Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35 Epileptic Encephalopathy, Early Infantile, 36 Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 4 Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47 Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49 Epileptic Encephalopathy, Early Infantile, 5 Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54 Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56 Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58 Epileptic Encephalopathy, Early Infantile, 6 Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 8 Epileptic Encephalopathy, Early Infantile, 9 Epimetaphyseal Dysplasia Cataract Epimetaphyseal Skeletal Dysplasia Epiphyseal Chondrodysplasia, Miura Type Epiphyseal Dysplasia Dysmorphism Camptodactyly Epiphyseal Dysplasia Hearing Loss Dysmorphism Epiphyseal Dysplasia, Microcephaly, and Nystagmus Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3 Epiphyseal Dysplasia, Multiple, 4 Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple, 6 Epiphyseal Dysplasia, Multiple, 7 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus Epiphyseal Dysplasia, Multiple, with Miniepiphyses Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia Epiphysiolysis of the Hip Episodic Angioedema with Eosinophilia Episodic Ataxia Episodic Ataxia, Type 1 Episodic Ataxia, Type 2 Episodic Ataxia, Type 3 Episodic Ataxia, Type 4 Episodic Ataxia, Type 5 Episodic Ataxia, Type 6 Episodic Ataxia, Type 7 Episodic Ataxia, Type 8 Episodic Kinesigenic Dyskinesia 1 Episodic Kinesigenic Dyskinesia 2 Episodic Pain Syndrome, Familial, 1 Episodic Pain Syndrome, Familial, 2 Episodic Pain Syndrome, Familial, 3 Epispadias Epithelial-Myoepithelial Carcinoma Epithelial Recurrent Erosion Dystrophy Epithelio-Exfoliative Colitis-Deafness Syndrome Epithelioid Hemangioendothelioma Epithelioid Sarcoma Epithelioid Trophoblastic Tumor Epstein-Barr Virus-Associated Gastric Carcinoma Epstein-Barr Virus Chronic Infection by Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly Epulis Erdheim-Chester Disease Ermine Phenotype Erosive Pustular Dermatosis of the Scalp Erysipelas Erythema Elevatum Diutinum Erythema Multiforme Erythema Nodosum, Familial Erythema Nodosum, Idiopathic Erythema Palmare Hereditarium Erythermalgia, Primary Erythrocyte Galactose Epimerase Deficiency Erythrocyte Lactate Transporter Defect Erythrocytosis, Familial, 1 Erythrocytosis, Familial, 2 Erythrocytosis, Familial, 3 Erythrocytosis, Familial, 4 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige Erythroderma Desquamativa of Leiner Erythroderma, Ichthyosiform, Congenital Reticular Erythroderma, Lethal Congenital Erythrokeratodermia-Cardiomyopathy Syndrome Erythrokeratodermia Variabilis Et Progressiva 1 Erythrokeratodermia Variabilis Et Progressiva 2 Erythrokeratodermia Variabilis Et Progressiva 3 Erythrokeratodermia Variabilis Et Progressiva 4 Erythrokeratodermia Variabilis Et Progressiva 5 Erythroleukemia, Familial Erythromelalgia Erythroplakia Erythropoietic Uroporphyria Associated with Myeloid Malignancy Escher Hirt Syndrome Escobar Syndrome, Type B Esophageal Atresia Esophageal Atresia Coloboma Talipes Esophageal Cancer Esophageal Cancer, Childhood Esophageal Duplication Cyst Esophageal Varix Esophagitis, Eosinophilic, 1 Esophagitis, Eosinophilic, 2 Esotropia Essential Iris Atrophy Essential Pentosuria Essential Thrombocythemia Essential Tremor Estrogen Resistance Ethylene Glycol Poisoning Euryblepharon Euthyroid Graves Orbitopathy Evans' Syndrome Even-Plus Syndrome Ewing's Family of Tumors Ewing Sarcoma Exencephaly Exercise-Induced Anaphylaxis Exercise-Induced Malignant Hyperthermia Exertional Headache Exfoliative Dermatitis Exfoliative Ichthyosis Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Exogenous Ochronosis Exostoses, Multiple, Type I Exostoses, Multiple, Type Ii Exostoses, Multiple, Type Iii Exostoses with Anetodermia and Brachydactyly, Type E Exostosis, Dupuytren Subungual Exstrophy of Bladder Extensive Peripapillary Myelinated Nerve Fibers External Auditory Canal Aplasia/hypoplasia External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus Extracardiac Rhabdomyoma Extracranial Arteriovenous Malformation Extracranial Carotid Artery Aneurysm Extracutaneous Mastocytoma Extragonadal Germ Cell Cancer Extragonadal Germinoma Extragonadal Teratoma Extralobar Congenital Pulmonary Sequestration Extramedullary Soft Tissue Plasmacytoma Extraneural Perineurioma Extranodal Nasal Nk/t Cell Lymphoma Extraskeletal Ewing Sarcoma Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly Extrasystoles Short Stature Hyperpigmentation Microcephaly Extraventricular Neurocytoma Extrinsic Allergic Alveolitis Exudative Vitreoretinopathy Exudative Vitreoretinopathy 1 Exudative Vitreoretinopathy 3 Exudative Vitreoretinopathy 4 Exudative Vitreoretinopathy 5 Exudative Vitreoretinopathy 6 Exudative Vitreoretinopathy 7 Eyebrows, Duplication of, with Stretchable Skin and Syndactyly Fabry Disease Facial Arteriovenous Malformation Facial Asymmetry Temporal Seizures Facial Clefting Corpus Callosum Agenesis Facial Clefting, Oblique, 1 Facial Dermoid Cyst Facial Diplegia with Paresthesias Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs Facial Dysmorphism with Multiple Malformations Facial Onset Sensory and Motor Neuronopathy Facial Palsy, Familial Recurrent Peripheral Facial Paresis, Hereditary Congenital, 1 Facial Paresis, Hereditary Congenital, 2 Facial Paresis, Hereditary Congenital, 3 Faciocardiomelic Dysplasia, Lethal Faciocardiorenal Syndrome Faciodigitogenital Syndrome, Autosomal Recessive Facio Digito Genital Syndrome Recessive Form Facioscapulohumeral Muscular Dystrophy 1 Facioscapulohumeral Muscular Dystrophy 2 Facio Skeletal Genital Syndrome Rippberger Type Faciothoracogenital Syndrome Factor V and Factor Viii, Combined Deficiency of, 2 Factor V Deficiency Factor Vii Deficiency Factor V Leiden Thrombophilia Factor X Deficiency Factor Xi Deficiency Factor Xii Deficiency Factor Xiii Deficiency Failure of Tooth Eruption, Primary Fallopian Tube Carcinoma Fallot Complex with Severe Mental and Growth Retardation Familial Abdominal Aortic Aneurysm Familial Acute Necrotizing Encephalopathy Familial Adenomatous Polyposis Familial Adenomatous Polyposis 1 Familial Adenomatous Polyposis 2 Familial Adenomatous Polyposis 3 Familial Adenomatous Polyposis 4 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion Familial Alzheimer-Like Prion Disease Familial Amyloidosis, Finnish Type Familial Anetoderma Familial Arteriosclerotic Leukoencephalopathy, Alopecia, Lumbago Without Arterial Hypertension Familial Atrial Fibrillation Familial Avascular Necrosis of the Femoral Head Familial Band Heterotopia Familial Bicuspid Aortic Valve Familial Bilateral Striatal Necrosis Familial Calcium Pyrophosphate Deposition Familial Candidiasis Familial Capillaro-Venous Leptomeningeal Angiomatosis Familial Caudal Dysgenesis Familial Cerebral Saccular Aneurysm Familial Cervical Artery Dissection Familial Chilblain Lupus Familial Clubfoot with or Without Associated Lower Limb Anomalies Familial Cold Autoinflammatory Syndrome Familial Cold Autoinflammatory Syndrome 1 Familial Cold Autoinflammatory Syndrome 2 Familial Cold Autoinflammatory Syndrome 3 Familial Cold Autoinflammatory Syndrome 4 Familial Colorectal Cancer Familial Colorectal Cancer Type X Familial Deafness Familial Drusen Familial Dupuytren Contracture Familial Episodic Pain Syndrome Familial Expansile Osteolysis Familial Gastric Type 1 Neuroendocrine Tumor Familial Glucocorticoid Deficiency Familial Hemiplegic Migraine Familial Hyperaldosteronism Familial Hyperlipidemia Familial Hypertension Familial Hyperthyroidism Due to Mutations in Tsh Receptor Familial Hypoaldosteronism Familial Hypocalciuric Hypercalcemia Familial Hypopituitarism Familial Idiopathic Basal Ganglia Calcification Familial Idiopathic Dilatation of the Right Atrium Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes Familial Infantile Bilateral Striatal Necrosis Familial Interstitial Fibrosis Familial Isolated Arrhythmogenic Right Ventricular Dysplasia Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form Familial Isolated Clinodactyly of Fingers Familial Isolated Dilated Cardiomyopathy Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland Familial Isolated Pituitary Adenoma Familial Isolated Restrictive Cardiomyopathy Familial Juvenile Hyperuricaemic Nephropathy Familial Keratoacanthoma Familial Lcat Deficiency Familial Lipoprotein Lipase Deficiency Familial Long Qt Syndrome Familial Mediterranean Fever Familial Mediterranean Fever, Autosomal Dominant Familial Monosomy 7 Syndrome Familial Myelofibrosis Familial Nasal Acilia Familial Nephrotic Syndrome Familial Omphalocele Syndrome with Facial Dysmorphism Familial or Sporadic Hemiplegic Migraine Familial Osteochondritis Dissecans Familial Papillary or Follicular Thyroid Carcinoma Familial Paroxysmal Nonkinesigenic Dyskinesia Familial Partial Lipodystrophy Familial Partial Lipodystrophy Due to Akt2 Mutations Familial Partial Paralysis Familial Patent Arterial Duct Familial Periodic Paralysis Familial Pityriasis Rubra Pilaris Familial Porencephaly Familial Porphyria Cutanea Tarda Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia Familial Progressive Cardiac Conduction Defect Familial Progressive Hyperpigmentation Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect Familial Renal Oncocytoma Familial Retinoblastoma Familial Rhabdoid Tumor Familial Short Qt Syndrome Familial Sick Sinus Syndrome Familial Stomach Cancer Familial Streblodactyly Familial Syringomyelia Familial Thoracic Aortic Aneurysm and Dissection Familial Thyroid Dyshormonogenesis Familial Tumoral Calcinosis Familial Vesicoureteral Reflux Familial Wilms Tumor 2 Fanconi Anemia, Complementation Group a Fanconi Anemia, Complementation Group D1 Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group E Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group Q Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group U Fanconi Anemia, Complementation Group V Fanconi Anemia, Complementation Group W Fanconi-Bickel Syndrome Fanconi-Like Syndrome Fanconi Syndrome Fara Chlupackova Syndrome Farber Lipogranulomatosis Farmer's Lung Fascioliasis Fasting Hypoglycemia Fastkd2-Related Infantile Mitochondrial Encephalomyopathy Fatal Familial Insomnia Fatal Infantile Cytochrome C Oxidase Deficiency Fatal Infantile Encephalomyopathy Fatal Infantile Hypertrophic Cardiomyopathy Due to Mitochondrial Complex I Deficiency Fatal Post-Viral Neurodegenerative Disorder Faulk Epstein Jones Syndrome Faye-Petersen-Ward-Carey Syndrome Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome Febrile Infection-Related Epilepsy Syndrome Febrile Seizures Febrile Seizures, Familial, 1 Febrile Seizures, Familial, 10 Febrile Seizures, Familial, 11 Febrile Seizures, Familial, 2 Febrile Seizures, Familial, 4 Febrile Seizures, Familial, 5 Febrile Seizures, Familial, 6 Febrile Seizures, Familial, 7 Febrile Seizures, Familial, 9 Febrile Ulceronecrotic Mucha-Habermann Disease Feigenbaum Bergeron Richardson Syndrome Feigenbaum Bergeron Syndrome Feingold Syndrome 1 Feingold Syndrome 2 Feingold Trainer Syndrome Felty Syndrome Female Infertility Due to Oocyte Meiotic Arrest Female Infertility Due to Zona Pellucida Defect Femoral Agenesis/hypoplasia Femoral Agenesis/hypoplasia, Bilateral Femoral Agenesis/hypoplasia, Unilateral Femoral-Facial Syndrome Femur Bifid with Monodactylous Ectrodactyly Femur-Fibula-Ulna Syndrome Femur, Unilateral Bifid, with Monodactylous Ectrodactyly Fenton Wilkinson Toselano Syndrome Ferro-Cerebro-Cutaneous Syndrome Fetal Akinesia Deformation Sequence Fetal Akinesia Syndrome, X-Linked Fetal Alcohol Spectrum Disorder Fetal Alcohol Syndrome Fetal Aminopterin Syndrome Fetal and Neonatal Alloimmune Thrombocytopenia Fetal Brain Disruption Sequence Fetal Carbamazepine Syndrome Fetal Cytomegalovirus Syndrome Fetal Edema Fetal Enterovirus Syndrome Fetal Hemoglobin Quantitative Trait Locus 1 Fetal Hemoglobin Quantitative Trait Locus 2 Fetal Hemoglobin Quantitative Trait Locus 3 Fetal Hemoglobin Quantitative Trait Locus 4 Fetal Hemoglobin Quantitative Trait Locus 5 Fetal Hemoglobin Quantitative Trait Locus 6 Fetal Hydantoin Syndrome Fetal Indomethacin Syndrome Fetal Iodine Deficiency Disorder Fetal Left Ventricular Aneurysm Fetal Lung Interstitial Tumor Fetal Macrosomia Fetal Methylmercury Syndrome Fetal Minoxidil Syndrome Fetal Parainfluenza Virus Type 3 Syndrome Fetal Parvovirus Syndrome Fetal Phenothiazine Syndrome Fetal Retinoid Syndrome Fetal Thalidomide Syndrome Fetal Trimethadione Syndrome Fg Syndrome 2 Fg Syndrome 3 Fibrillary Astrocytoma Fibrillary Glomerulonephritis Fibrinogen Deficiency, Congenital Fibro-Adipose Vascular Anomaly Fibroblastic Rheumatism Fibrocalculous Pancreatopathy Fibrocartilaginous Embolism Fibrochondrogenesis Fibrochondrogenesis 1 Fibrochondrogenesis 2 Fibrodysplasia Ossificans Progressiva Fibrolamellar Carcinoma Fibromatosis Fibromatosis, Gingival, 1 Fibromatosis, Gingival, 2 Fibromatosis, Gingival, 3 Fibromatosis, Gingival, 4 Fibromatosis, Gingival, 5 Fibromatosis, Gingival, with Distinctive Facies Fibromatosis, Gingival, with Progressive Deafness Fibromatosis Multiple Non Ossifying Fibromuscular Dysplasia Fibrosarcoma Fibrosclerosis, Multifocal Fibrosing Mediastinitis Fibrous Dysplasia Fibula Aplasia Complex Brachydactyly Fibular Aplasia Fibular Aplasia Ectrodactyly Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome Fibular Dimelia-Diplopodia Syndrome Fibular Hemimelia Fibular Hemimelia, Bilateral Fibular Hemimelia, Unilateral Fibular Hypoplasia and Complex Brachydactyly Fibular Hypoplasia Scapulo Pelvic Dysplasia Absent Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities Ficolin 3 Deficiency Filarial Elephantiasis Filippi Syndrome Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature Fingerprint Body Myopathy First Branchial Cleft Anomaly Fish-Eye Disease Fitz-Hugh-Curtis Syndrome Fitzsimmons-Guilbert Syndrome Fitzsimmons Syndrome Fitzsimmons Walson Mellor Syndrome Fixed Pigmented Erythema Flavimonas Oryzihabitans Infection Fleck Retina, Familial Benign Fleck Retina of Kandori Flna-Related Periventricular Nodular Heterotopia Floating-Harbor Syndrome Florid Cemento-Osseous Dysplasia Florid Cystic Endosalpingiosis of the Uterus Flotch Syndrome Flucloxacilline Toxicity Flynn-Aird Syndrome Fmr1-Related Primary Ovarian Insufficiency Focal Acral Hyperkeratosis Focal Alopecia Congenital Megalencephaly Focal Cortical Dysplasia, Type Ii Focal Dermal Hypoplasia Focal Dystonia Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation Focal Facial Dermal Dysplasia Focal Facial Dermal Dysplasia 1, Brauer Type Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type Focal Facial Dermal Dysplasia 3, Setleis Type Focal Facial Dermal Dysplasia 4 Focal Myositis Focal or Multifocal Malformations in Neuronal Migration Focal Palmoplantar and Gingival Keratoderma Focal Segmental Glomerulosclerosis Focal Segmental Glomerulosclerosis 1 Focal Segmental Glomerulosclerosis 2 Focal Segmental Glomerulosclerosis 3 Focal Segmental Glomerulosclerosis 4 Focal Segmental Glomerulosclerosis 5 Focal Segmental Glomerulosclerosis 6 Focal Segmental Glomerulosclerosis 7 Focal Segmental Glomerulosclerosis 8 Focal Segmental Glomerulosclerosis 9 Foix-Alajouanine Syndrome Foix Chavany Marie Syndrome Folate Malabsorption, Hereditary Folinic Acid-Responsive Seizures Follicular Cholangitis and Pancreatitis Follicular Dendritic Cell Sarcoma Follicular Lymphoma Follicular Lymphoma 1 Follicular Lymphoreticuloma Folliculotropic Mycosis Fungoides Fontaine Farriaux Blanckaert Syndrome Fontaine Progeroid Syndrome Foodborne Botulism Form Agnosia Formaldehyde Poisoning Fountain Syndrome Fournier Gangrene Fourth Branchial Cleft Anomaly Fourth Cranial Nerve Palsy Fourth Cranial Nerve Palsy, Familial Congenital Foveal Hypoplasia 1 Foveal Hypoplasia 2 Fowler's Syndrome Fox-Fordyce Disease Foxg1 Syndrome Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) Fragile X Syndrome Fragile X Syndrome Type 1 Fragile X Syndrome Type 2 Fragile X Syndrome Type 3 Fragile X Tremor/ataxia Syndrome Franceschini Vardeu Guala Syndrome Frank-Ter Haar Syndrome Fraser Jequier Chen Syndrome Fraser-Like Syndrome Fraser Syndrome 1 Fraser Syndrome 2 Fraser Syndrome 3 Frasier Syndrome Fraxd Fraxf Syndrome Free Sialic Acid Storage Disorders Freiberg's Disease Frenkel Russe Syndrome Frias Syndrome Friedel Heid Grosshans Syndrome Friedreich Ataxia 1 Friedreich Ataxia 2 Frints De Smet Fabry Fryns Syndrome Froelich Syndrome Frontal Encephalocele Frontal Fibrosing Alopecia Frontal Sinus Cancer Frontofacionasal Dysplasia Frontometaphyseal Dysplasia Frontometaphyseal Dysplasia 1 Frontometaphyseal Dysplasia 2 Frontonasal Arteriovenous Malformation Frontonasal Dysplasia 1 Frontonasal Dysplasia 2 Frontonasal Dysplasia 3 Frontonasal Dysplasia Acromelic Frontonasal Dysplasia Klippel Feil Syndrome Frontonasal Dysplasia Phocomelic Upper Limbs Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome Frontonasal Dysplasia with Alar Clefts Frontonasal Dysplasia with Alopecia and Genital Anomaly Fronto Nasal Malformation Cloacal Exstrophy Frontotemporal Dementia Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related Froster-Huch Syndrome Fructose-1,6-Bisphosphatase Deficiency Fructose Intolerance, Hereditary Fructosuria, Essential Fryns Fabry Remans Syndrome Fryns Hofkens Fabry Syndrome Fryns Macrocephaly Fryns Microphthalmia Syndrome Fryns Smeets Thiry Syndrome Fryns Syndrome Fuchs' Endothelial Dystrophy Fuchs' Heterochromic Uveitis Fucosidosis Fucosidosis Type 1 Fukuda Miyanomae Nakata Syndrome Fukuyama Type Muscular Dystrophy Fulminant Viral Hepatitis Fumarase Deficiency Functioning Gonadotropic Adenoma Functioning Pancreatic Endocrine Tumor Fundus Albipunctatus Fundus Dystrophy, Pseudoinflammatory, Recessive Form Fundus Pulverulentus Fungal Myositis Fuqua Berkovitz Syndrome Furunculous Myiasis Fusariosis Gaba Aminotransferase Deficiency Gaba-Transaminase Deficiency Galactokinase Deficiency Galactorrhoea-Hyperprolactinaemia Galactose Epimerase Deficiency Galactosemia Galactosialidosis Gallbladder Cancer Gallbladder Disease Gallbladder Disease 1 Gallbladder Disease 2 Gallbladder Disease 3 Gallbladder Disease 4 Gallbladder Neuroendocrine Tumor Galloway-Mowat Syndrome Galloway-Mowat Syndrome 1 Galloway-Mowat Syndrome 3 Galloway-Mowat Syndrome 4 Galloway-Mowat Syndrome 5 Game Friedman Paradice Syndrome Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to Gamma Heavy Chain Disease Gangliocytoma Ganglioglioma Ganglioneuroblastoma Ganglioneuroma Gangliosidosis Gm1 Gangliosidosis Gm2 Gapo Syndrome Gardner-Diamond Syndrome Garret Tripp Syndrome Gas Bloat Syndrome Gastric Adenocarcinoma and Proximal Polyposis of the Stomach Gastric Antral Vascular Ectasia Gastric Cancer Gastric Cancer, Hereditary Diffuse Gastric Duplication Cysts Gastric Linitis Plastica Gastric Lymphoma Gastric Neuroendocrine Tumor Gastric Squamous Cell Carcinoma Gastritis, Familial Giant Hypertrophic Gastrocutaneous Syndrome Gastro-Enteropancreatic Neuroendocrine Tumor Gastrointestinal Defects and Immunodeficiency Syndrome Gastrointestinal Stromal Tumor Gastroschisis Gatad2b-Associated Neurodevelopmental Disorder Gaucher's Disease Gaucher Disease, Atypical, Due to Saposin C Deficiency Gaucher Disease - Ophthalmoplegia - Cardiovascular Calcification Gaucher Disease, Perinatal Lethal Gaucher Disease, Type I Gaucher Disease, Type Ii Gaucher Disease, Type Iii Gaucher Disease, Type Iiic Gaucher Ichthyosis Restrictive Dermopathy Gay Feinmesser Cohen Syndrome Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 Gcgr-Related Hyperglucagonemia Gelatinous Ascites Geleophysic Dwarfism Geleophysic Dysplasia Geleophysic Dysplasia 1 Geleophysic Dysplasia 2 Geleophysic Dysplasia 3 Gemignani Syndrome Gemistocytic Astrocytoma Generalized Epilepsy with Febrile Seizures Plus Generalized Epilepsy with Febrile Seizures Plus, Type 1 Generalized Epilepsy with Febrile Seizures Plus, Type 2 Generalized Epilepsy with Febrile Seizures Plus, Type 3 Generalized Epilepsy with Febrile Seizures Plus, Type 4 Generalized Epilepsy with Febrile Seizures Plus, Type 6 Generalized Epilepsy with Febrile Seizures Plus, Type 7 Generalized Epilepsy with Febrile Seizures Plus, Type 8 Generalized Epilepsy with Febrile Seizures Plus, Type 9 Generalized Eruptive Histiocytosis Generalized Eruptive Keratoacanthoma Generalized Galactose Epimerase Deficiency Generalized Peeling Skin Syndrome Generalized Resistance to Thyroid Hormone Genetic Hyperferritinemia Without Iron Overload Genetic Recurrent Myoglobinuria Genetic Reflex Epilepsy Genetic Transient Congenital Hypothyroidism Geniculate Herpes Zoster Geniospasm 1 Genital Dwarfism Genital Dwarfism, Turner Type Genitopalatocardiac Syndrome Genitopatellar Syndrome Genochondromatosis Genuine Diffuse Phlebectasia Genu Valgum, St. Helena Familial Geographic Tongue German Syndrome Germ Cells Tumors Geroderma Osteodysplastica Geroderma Osteodysplasticum Gershinibaruch Leibo Syndrome Gerstmann-Straussler Disease Gerstmann Syndrome Gestational Choriocarcinoma Gestational Diabetes Insipidus Gestational Trophoblastic Tumor Ghosal Hematodiaphyseal Dysplasia Ghose Sachdev Kumar Syndrome Gianotti Crosti Syndrome Giant Adenofibroma of the Breast Giant Axonal Neuropathy Giant Axonal Neuropathy 1, Autosomal Recessive Giant Axonal Neuropathy 2 Giant Axonal Neuropathy 2, Autosomal Dominant Giant Cell Glioblastoma Giant Cell Myocarditis Giant Congenital Nevus Giant Ganglionic Hyperplasia Giant Mammary Hamartoma Giant Papillary Conjunctivitis Gigantiform Cementoma, Familial Gigantism Gigantism Advanced Bone Age Hoarse Cry Gigantomastia Gilbert Syndrome Gilles De La Tourette Syndrome Gillespie Syndrome Gingival Fibromatosis Gitelman Syndrome Glanders Glanzmann Thrombasthenia Glass-Chapman-Hockley Syndrome Glass Syndrome Glassy Cell Carcinoma of the Cervix Glassy Cell Carcinoma of the Cervix Uteri Glaucoma 1, Open Angle, a Glaucoma 1, Open Angle, I Glaucoma 1, Open Angle, P Glaucoma 3, Primary Congenital, a Glaucoma 3, Primary Congenital, C Glaucoma 3, Primary Congenital, D Glaucoma 3, Primary Congenital, E Glaucoma 3, Primary Infantile, B Glaucoma and Sleep Apnea Glaucoma, Ectopia, Microspherophakia, Stiff Joints and Short Stature Syndrome Glaucoma, Hereditary Glaucoma, Hereditary Adult Type 1a Glaucoma, Hereditary Juvenile Type 1b Glaucoma Iridogoniodysgenesia Glaucoma, Primary Infantile Type 3a Glaucoma, Primary Open Angle Glaucoma-Related Pigment Dispersion Syndrome Glaucoma Type 1c Glioblastoma Glioependymal/ependymal Cyst Glioma Gliomatosis Cerebri Gliomatosis Peritonei Gliosarcoma Global Developmental Delay-Lung Cysts-Overgrowth-Wilms Tumor Syndrome Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome Global Disaccharide Intolerance Glomerulonephritis Glomerulopathy with Fibronectin Deposits 1 Glomerulopathy with Fibronectin Deposits 2 Glomus Tumor Glomus Tympanicum Tumor Glomus Vagale Tumor Glomuvenous Malformations Glossodynia Glossopalatine Ankylosis Glossopalatine Ankylosis Micrognathia Ear Anomalies Glossopharyngeal Neuralgia Glucagonoma Glucocorticoid Resistance, Generalized Glucose-6-Phosphate Translocase Deficiency Glucose/galactose Malabsorption Glucosephosphate Dehydrogenase Deficiency Glucosephosphate Isomerase Deficiency Glucose Transporter Type 1 Deficiency Syndrome Glucosidase Acid-1,4-Alpha Deficiency Glut1 Deficiency Syndrome 1 Glut1 Deficiency Syndrome 2 Glutamate Decarboxylase Deficiency Glutamate Formiminotransferase Deficiency Glutamine Deficiency, Congenital Glutaric Acidemia I Glutaric Acidemia Type Iii Glutaric Aciduria Iii Glutathione Synthetase Deficiency Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia Due to Glutathionuria Gluteal Muscles, Absence of Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency Glycerol Kinase Deficiency Glycine Encephalopathy Glycine Encephalopathy with Normal Serum Glycine Glycine N-Methyltransferase Deficiency Glycogen Storage Disease Glycogen Storage Disease 0, Liver Glycogen Storage Disease 0, Muscle Glycogen Storage Disease Due to Acid Maltase Deficiency, Infantile Onset Glycogen Storage Disease Due to Acid Maltase Deficiency, Late-Onset Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency Glycogen Storage Disease Ia Glycogen Storage Disease Ib Glycogen Storage Disease Ic Glycogen Storage Disease Ii Glycogen Storage Disease Iii Glycogen Storage Disease Iv Glycogen Storage Disease Ix Glycogen Storage Disease Ixa Glycogen Storage Disease Ixb Glycogen Storage Disease Ixc Glycogen Storage Disease of Heart, Lethal Congenital Glycogen Storage Disease Type 0 Glycogen Storage Disease, Type Ixd Glycogen Storage Disease V Glycogen Storage Disease Vi Glycogen Storage Disease Vii Glycogen Storage Disease Viii Glycogen Storage Disease X Glycogen Storage Disease Xii Glycogen Storage Disease Xiii Glycogen Storage Disease Xv Glycoproteinosis Glycosylphosphatidylinositol Deficiency Gm1-Gangliosidosis, Type I Gm1-Gangliosidosis, Type Ii Gm1-Gangliosidosis, Type Iii Gm2 Gangliosidosis, 0 Variant Gm2-Gangliosidosis, Ab Variant Gm2-Gangliosidosis, B, B1, Ab Variant Gmppa-Cdg Gms Syndrome Gnao1 Encephalopathy Gnathodiaphyseal Dysplasia Gnathostoma Infection Gne-Related Myopathy Goblet Cell Carcinoid Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies Goldberg-Shprintzen Syndrome Goldmann-Favre Syndrome Gollop Coates Syndrome Gombo Syndrome Gomez-Lopez-Hernandez Syndrome Gonadal Dysgenesis Gonadal Dysgenesis, Xy Type, with Associated Anomalies Gonadoblastoma Goodpasture Syndrome Good Syndrome Gordon Holmes Syndrome Gorham's Disease Gorlin Bushkell Jensen Syndrome Gorlin-Chaudhry-Moss Syndrome Gosr2-Related Progressive Myoclonus Ataxia Gracile Bone Dysplasia Gracile Syndrome Grade Iii Astrocytoma Graft-Versus-Host Disease Graham Boyle Troxell Syndrome Graham-Little-Piccardi-Lassueur Syndrome Grand Kaine Fulling Syndrome Grange Syndrome Grant Syndrome Granular Cell Tumor Granulocytopenia Granuloma Annulare Granuloma Inguinale Granulomas, Congenital Cerebral Granulomatous Amebic Encephalitis Granulomatous Disease, Chronic, Autosomal Dominant Type Granulomatous Hypophysitis Granulomatous Lobular Mastitis Granulomatous Mastitis Granulomatous Rosacea Granulomatous Slack Skin Disease Granulosa Cell Tumor of the Ovary Graphite Pneumoconiosis Graves' Disease Graves Disease 1 Graves Disease 2 Gray Platelet Syndrome Grayson-Wilbrandt Corneal Dystrophy Gray Zone Lymphoma Greenberg Dysplasia Green Sandford Davison Syndrome Greig Cephalopolysyndactyly Syndrome Grfoma Griscelli Syndrome Griscelli Syndrome, Type 1 Griscelli Syndrome, Type 2 Griscelli Syndrome, Type 3 Grix Blankenship Peterson Syndrome Group B Strep Disease in Newborns Grover's Disease Growing Teratoma Syndrome Growth Factors, Combined Defect of Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Partial Growth Hormone Insensitivity, Partial Growth Hormone Insensitivity with Immunodeficiency Growth Retardation Alopecia Pseudoanodontia Optic Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction Growth Retardation, Developmental Delay, and Facial Dysmorphism Growth Retardation Hydrocephaly Lung Hypoplasia Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome Growth Retardation, Small and Puffy Hands and Feet, and Eczema Grubben De Cock Borghgraef Syndrome Guillain-Barre Syndrome Guillain-Barre Syndrome, Familial Guizar Vasquez Sanchez Manzano Syndrome Gupta Patton Syndrome Gurrieri Syndrome Guttate Psoriasis Gynandroblastoma Gyrate Atrophy of Choroid and Retina Hadziselimovic Syndrome Haemophilus Influenzae Haim-Munk Syndrome Hair-an Syndrome Hair Defect-Photosensitivity-Intellectual Disability Syndrome Hair Defect with Photosensitivity and Mental Retardation Hair Disease Hairy Cell Leukemia Hairy Elbows Hairy Nose Tip Hairy Palms and Soles Halal Setton Wang Syndrome Halal Syndrome Hallermann-Streiff-Like Syndrome Hallermann-Streiff Syndrome Hall-Riggs Mental Retardation Syndrome Hall-Riggs Syndrome Hallux Varus and Preaxial Polysyndactyly Halo Nevi Hamamy Syndrome Hamanishi Ueba Tsuji Syndrome Hand and Foot Deformity with Flat Facies Hand-Foot-Genital Syndrome Handigodu Disease Handigodu Joint Disease Handl Syndrome Hanhart Syndrome Hansen's Disease Hantavirus Pulmonary Syndrome Hardikar Syndrome Harding Ataxia Harlequin Syndrome Harrod Doman Keele Syndrome Harrod Syndrome Hartnup Disorder Hartsfield Syndrome Hashimoto's Encephalitis Hashimoto-Pritzker Syndrome Hashimoto Thyroiditis Haverhill Fever Hawkinsinuria Hearing Loss, Cisplatin-Induced Heart Block, Congenital Heart Defects, Congenital, and Other Congenital Anomalies Heart Defect, Tongue Hamartoma and Polysyndactyly Heart-Hand Syndrome, Slovenian Type Heart-Hand Syndrome, Spanish Type Heart Tumor Heavy Chain Deposition Disease Heavy Chain Disease Heavy Metal Poisoning Heiner Syndrome Heinz Body Anemias Hellp Syndrome Helsmoortel-Van Der Aa Syndrome Hemangioblastoma Hemangioendothelioma Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe Hemangioma-Thrombocytopenia Syndrome Hemangiopericytoma, Malignant Hematohidrosis Hematopoietic Stem Cell Transplantation Hematuria, Benign Familial Hemeralopia, Congenital Essential Hemeralopia, Familial Hemi 3 Syndrome Hemicrania Continua Hemidystonia-Hemiatrophy Syndrome Hemifacial Atrophy Agenesis of the Caudate Nucleus Hemifacial Atrophy, Progressive Hemifacial Hyperplasia Hemifacial Hyperplasia with Strabismus Hemifacial Microsomia Hemifacial Microsomia with Radial Defects Hemifacial Myohyperplasia Hemifacial Spasm Hemifacial Spasm, Familial Hemihyperplasia, Isolated Hemihyperplasia-Multiple Lipomatosis Syndrome Hemimegalencephaly Hemiparkinsonism-Hemiatrophy Syndrome Hemiplegia Hemiplegic Migraine Hemochromatosis, Neonatal Hemochromatosis, Type 1 Hemochromatosis Type 2 Hemochromatosis, Type 2a Hemochromatosis, Type 2b Hemochromatosis, Type 3 Hemochromatosis, Type 4 Hemochromatosis, Type 5 Hemoglobin C-Beta-Thalassemia Syndrome Hemoglobin C Disease Hemoglobin D Disease Hemoglobin E-Beta-Thalassemia Syndrome Hemoglobin E Disease Hemoglobinemia Hemoglobin H Disease Hemoglobin Lepore-Beta-Thalassemia Syndrome Hemoglobinopathy Hemoglobinopathy Toms River Hemoglobin Se Disease Hemoglobin Zurich Hemolytic Anemia Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction Hemolytic Anemia Due to Glutathione Reductase Deficiency Hemolytic Anemia Due to Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency Hemolytic Disease of the Newborn with Kell Alloimmunization Hemolytic-Uremic Syndrome Hemolytic Uremic Syndrome, Atypical 1 Hemolytic Uremic Syndrome, Atypical 2 Hemolytic Uremic Syndrome, Atypical 3 Hemolytic Uremic Syndrome, Atypical 4 Hemolytic Uremic Syndrome, Atypical 5 Hemolytic Uremic Syndrome, Atypical 6 Hemolytic Uremic Syndrome, Atypical, Childhood Hemophagocytic Lymphohistiocytosis Hemophagocytic Lymphohistiocytosis, Familial, 1 Hemophagocytic Lymphohistiocytosis, Familial, 2 Hemophagocytic Lymphohistiocytosis, Familial, 3 Hemophagocytic Lymphohistiocytosis, Familial, 4 Hemophagocytic Lymphohistiocytosis, Familial, 5 Hemophagocytic Reticulosis Hemophagocytic Syndrome Associated with an Infection Hemophilia Hemophilia a Hemophilia B Hemophilic Arthropathy Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts Hemorrhagic Disease Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation Hemorrhagic Fever Hemorrhagic Fever with Renal Syndrome Hemorrhagic Proctocolitis Hemorrhagic Shock and Encephalopathy Syndrome Hemosiderosis Hendra Virus Infection Hennekam Syndrome Hennekam Van Der Horst Syndrome Henoch-Schoenlein Purpura Hepadnavirus Infection Heparane Sulfamidase Deficiency Heparin-Induced Thrombocytopenia Hepatic Cystic Hamartoma Hepatic Encephalopathy Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection Hepatic Lipase Deficiency Hepatic Veno-Occlusive Disease Hepatic Venoocclusive Disease with Immunodeficiency Hepatitis Hepatitis a Hepatitis B Hepatitis B Reinfection Following Liver Transplantation Hepatitis C Hepatitis C Virus Hepatitis D Hepatitis E Hepatoblastoma Hepatocellular Adenoma Hepatocellular Carcinoma Hepatoportal Sclerosis Hepatopulmonary Syndrome Hepatorenal Syndrome Hepatosplenic T-Cell Lymphoma Hereditary Acrokeratotic Poikiloderma, Weary Type Hereditary Alpha Tryptasemia Syndrome Hereditary Amyloidosis Hereditary Angioedema Hereditary Antithrombin Deficiency Hereditary Antithrombin Deficiency Type 2 Hereditary Antithrombin Deficiency Type I Hereditary Ataxia Hereditary Breast Ovarian Cancer Syndrome Hereditary Central Diabetes Insipidus Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors Hereditary Congenital Facial Paresis Hereditary Dystonia Hereditary Elliptocytosis Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke Hereditary Geniospasm Hereditary Hemorrhagic Telangiectasia Hereditary Hypercarotenemia and Vitamin a Deficiency Hereditary Hyperuricemia Hereditary Hypophosphatemic Rickets Hereditary Inclusion Body Myopathy Type 4 Hereditary Late-Onset Parkinson Disease Hereditary Leiomyomatosis and Renal Cell Cancer Hereditary Lymphedema Hereditary Methemoglobinemia Hereditary Mixed Polyposis Syndrome Hereditary Motor and Sensory Neuropathy, Type Iic Hereditary Motor and Sensory Neuropathy V Hereditary Motor and Sensory Neuropathy with Acrodystrophy Hereditary Multiple Exostoses Hereditary Multiple Osteochondromas Hereditary Myopathy with Early Respiratory Failure Hereditary Myopathy with Intranuclear Filamentous Hereditary Neuroendocrine Tumor of Small Intestine Hereditary Neuropathies Hereditary Neuropathy with Liability to Pressure Palsy Hereditary Night Blindness Hereditary Nodular Heterotopia Hereditary Orotic Aciduria Without Megaloblastic Anaemia Hereditary Paraganglioma-Pheochromocytoma Syndromes Hereditary Peripheral Nervous Disorder Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome Hereditary Proximal Myopathy with Early Respiratory Failure Hereditary Pulmonary Alveolar Proteinosis Hereditary Renal Cell Carcinoma Hereditary Resistance to Anti-Vitamin K Hereditary Sensorimotor Neuropathy with Hyperelastic Skin Hereditary Sensory and Autonomic Neuropathy Type 1e Hereditary Sensory and Autonomic Neuropathy with Deafness and Global Delay Hereditary Sensory Neuropathy Hereditary Site-Specific Ovarian Cancer Syndrome Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72 Hereditary Spherocytosis Hereditary Thrombocytopenia with Normal Platelets Hereditary Type 1 Neuropathy Hereditary Type 2 Neuropathy Hereditary Vascular Retinopathy Hereditary Wilms' Tumor Hereditary Xanthinuria Heritable Pulmonary Arterial Hypertension Hermansky-Pudlak Syndrome Hermansky-Pudlak Syndrome 1 Hermansky-Pudlak Syndrome 10 Hermansky-Pudlak Syndrome 2 Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 4 Hermansky-Pudlak Syndrome 5 Hermansky-Pudlak Syndrome 6 Hermansky-Pudlak Syndrome 7 Hermansky-Pudlak Syndrome 8 Hermansky-Pudlak Syndrome 9 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis Hermansky-Pudlak Syndrome with Pulmonary Fibrosis Hernández-Aguirre Negrete Syndrome Hernia, Anterior Diaphragmatic Herpes Simiae Herpes Simplex Herpes Simplex Encephalitis Herpes Simplex Encephalitis 1 Herpes Simplex Encephalitis 2 Herpes Simplex Encephalitis 3 Herpes Simplex Encephalitis 4 Herpes Simplex Encephalitis 7 Herpes Virus Antenatal Infection Herpesvirus Simiae B Virus Herpes Zoster Ophthalmicus Herpetic Embryopathy Herpetiform Pemphigus Herrmann Opitz Arthrogryposis Syndrome Herrmann Opitz Craniosynostosis Hersh Podruch Weisskopk Syndrome Heterochromia Iridis Heterotaxy Heterotaxy, Visceral, 1, X-Linked Heterotaxy, Visceral, 2, Autosomal Heterotaxy, Visceral, 3, Autosomal Heterotaxy, Visceral, 4, Autosomal Heterotaxy, Visceral, 5, Autosomal Heterotaxy, Visceral, 6, Autosomal Heterotaxy, Visceral, 7, Autosomal Heterotaxy, Visceral, 8, Autosomal Hhv-6 Encephalitis Hidradenitis Suppurativa Hidradenocarcinoma High Anorectal Malformation High Bone Mass Osteogenesis Imperfecta High Grade B-Cell Lymphoma with Myc and/ or Bcl2 and/or Bcl6 Rearrangement High-Grade Dysplasia in Patients with Barrett Esophagus High-Grade Neuroendocrine Carcinoma of the Cervix Uteri High-Grade Neuroendocrine Carcinoma of the Corpus Uteri High Molecular Weight Kininogen Deficiency Hillig Syndrome Hing Torack Dowston Syndrome Hinman Syndrome Hip Luxation Hip Subluxation Hirschsprung Disease 1 Hirschsprung Disease 2 Hirschsprung Disease 3 Hirschsprung Disease 4 Hirschsprung Disease 5 Hirschsprung Disease 6 Hirschsprung Disease 7 Hirschsprung Disease 8 Hirschsprung Disease 9 Hirschsprung Disease Ganglioneuroblastoma Hirschsprung Disease Polydactyly Heart Disease Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness Hirschsprung Disease with Type D Brachydactyly Hirschsprung Microcephaly Cleft Palate Hirschsprung Nail Hypoplasia Dysmorphism Hirsutism, Skeletal Dysplasia, and Mental Retardation His Bundle Tachycardia Histidinemia Histidinuria Due to a Renal Tubular Defect Histidinuria Renal Tubular Defect Histiocytic Sarcoma Histiocytosis Histiocytosis-Lymphadenopathy Plus Syndrome Histiocytosis, Progressive Mucinous Histoplasmosis Hiv-Associated Cancer Hivep2-Related Intellectual Disability Hmg Coa Synthetase Deficiency Hodgkin's Lymphoma, Lymphocytic Depletion Hodgkin's Lymphoma, Nodular Sclerosis Hodgkin Lymphoma, Childhood Hodgkin Lymphoma, During Pregnancy Ho Kaufman Mcalister Syndrome Holmes Borden Syndrome Holoacardius Amorphus Holocarboxylase Synthetase Deficiency Holoprosencephaly Holoprosencephaly 1 Holoprosencephaly 11 Holoprosencephaly 2 Holoprosencephaly 3 Holoprosencephaly 4 Holoprosencephaly 5 Holoprosencephaly 6 Holoprosencephaly 7 Holoprosencephaly 8 Holoprosencephaly 9 Holoprosencephaly Caudal Dysgenesis Holoprosencephaly Ectrodactyly Cleft Lip Palate Holoprosencephaly, Recurrent Infections, and Monocytosis Holoprosencephaly, Semilobar, with Craniosynostosis Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence Holt-Oram Syndrome Holzgreve Syndrome Homocarnosinosis Homocysteinemia Homocystinuria Homocystinuria Due to Cbs Deficiency Homocystinuria Due to Cystathionine Beta-Synthase Deficiency Homocystinuria Due to Defect in Methylation Cbl E Homocystinuria Due to Defect in Methylation Cbl G Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity Homocystinuria-Megaloblastic Anemia, Cble Complementation Type Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type Homocystinuria Without Methylmalonic Aciduria Homologous Wasting Disease Homozygous Familial Hypercholesterolemia Honey-Droplet Corneal Dystrophy Hooft Disease Hoon Hall Syndrome Hordnes Engebretsen Knudtson Syndrome Horizontal Gaze Palsy with Progressive Scoliosis Horner's Syndrome Horner Syndrome, Congenital Horseshoe Kidney Hot Water Reflex Epilepsy Houlston Ironton Temple Syndrome House Allergic Alveolitis Hsd10 Mitochondrial Disease Htlv-1 Associated Myelopathy/tropical Spastic Paraparesis Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease Hughes-Stovin Syndrome Human Granulocytic Anaplasmosis Human Infection by Orthopoxvirus Human Monocytic Ehrlichiosis Human Spumaretrovirus Infection Human T-Cell Leukemia Virus Type 1 Human T-Cell Leukemia Virus Type 2 Human T-Cell Leukemia Virus Type 3 Humeral Agenesis/hypoplasia Humeral Agenesis/hypoplasia, Bilateral Humeral Agenesis/hypoplasia, Unilateral Humeroradial Synostosis Humero-Radial Synostosis, Bilateral Humero-Radial Synostosis, Unilateral Humeroradioulnar Synostosis Humero-Radio-Ulnar Synostosis, Bilateral Humero-Radio-Ulnar Synostosis, Unilateral Humero-Ulnar Synostosis Humero-Ulnar Synostosis, Bilateral Humero-Ulnar Synostosis, Unilateral Hunter Carpenter Macdonald Syndrome Hunter Macpherson Syndrome Hunter-Mcalpine Craniosynostosis Syndrome Hunter-Mcalpine Syndrome Hunter Mcdonald Syndrome Hunter Rudd Hoffmann Syndrome Huntington Disease Huntington Disease-Like 1 Huntington Disease-Like 2 Huntington Disease-Like 3 Huntington Disease-Like Syndrome Huntington Disease-Like Syndrome Due to C9orf72 Expansions Huriez Syndrome Hurler-Scheie Syndrome Hurler Syndrome Hurst Hallam Hockey Syndrome Hutchinson-Gilford Progeria Syndrome Hutchinson Incisors Hutterite Cerebroosteonephrodysplasia Syndrome Hyaline Fibromatosis Syndrome Hyalinosis Systemic Short Stature Hydatidiform Mole, Recurrent, 1 Hydranencephaly Hydroa Vacciniforme Hydroa Vacciniforme, Familial Hydroa Vacciniforme-Like Lymphoma Hydrocephalus Hydrocephalus, Autosomal Dominant Hydrocephalus Autosomal Recessive Hydrocephalus-Cleft Palate-Joint Contractures Syndrome Hydrocephalus Craniosynostosis Bifid Nose Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius Hydrocephalus, Endocardial Fibroelastosis, and Cataracts Hydrocephalus Growth Retardation Skeletal Anomalies Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 Hydrocephalus, Normal-Pressure Hydrocephalus Obesity Hypogonadism Hydrocephalus Skeletal Anomalies Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis Hydrocephalus with Associated Malformations Hydrocephalus with Cerebellar Agenesis Hydrocephalus with Stenosis of the Aqueduct of Sylvius Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia Hydrolethalus Syndrome 1 Hydrolethalus Syndrome 2 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation Hydrops Ectrodactyly Syndactyly Hydrops Fetalis Hydrops Fetalis Anemia Immune Disorder Absent Thumb Hydrops Fetalis, Nonimmune Hydroxycarboxylic Aciduria Hydroxykynureninuria Hydroxylysinuria Hydroxyprolinemia Hygroma Cervical Hymenolepiasis Hyperacusis Hyperaldosteronism, Familial, Type I Hyperaldosteronism, Familial, Type Ii Hyperaldosteronism, Familial, Type Iii Hyperaldosteronism, Familial, Type Iv Hyperalphalipoproteinemia 1 Hyperandrogenism Due to Cortisone Reductase Deficiency Hyperbetaalaninemia Hyper-Beta-Alaninemia Hyperbilirubinemia, Rotor Type Hyperbilirubinemia, Transient Familial Neonatal Hyperbiliverdinemia Hypercalcinuria Macular Coloboma Hypercementosis Hypercholanemia, Familial Hypercholesterolemia, Autosomal Dominant, 3 Hypercholesterolemia, Autosomal Dominant, Type B Hypercholesterolemia, Autosomal Recessive Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency Hypercholesterolemia, Familial Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency Hyperekplexia Hyperekplexia 1 Hyperekplexia 2 Hyperekplexia 3 Hyperekplexia, Hereditary 1 Hypereosinophilic Syndrome Hypereosinophilic Syndrome, Idiopathic Hyperferritinemia with or Without Cataract Hyperglycinemia, Lactic Acidosis, and Seizures Hypergonadotropic Hypogonadism and Partial Alopecia Hypergonadotropic Ovarian Failure, Familial or Sporadic Hyperhidrosis, Gustatory Hyper-Igd Syndrome Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive Hyper Ige Syndrome Hyper-Igm Syndrome Without Susceptibility to Opportunistic Infections Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections Hyperinsulinemic Hypoglycemia Hyperinsulinemic Hypoglycemia, Familial, 1 Hyperinsulinemic Hypoglycemia, Familial, 2 Hyperinsulinemic Hypoglycemia, Familial, 3 Hyperinsulinemic Hypoglycemia, Familial, 4 Hyperinsulinemic Hypoglycemia, Familial, 5 Hyperinsulinemic Hypoglycemia, Familial, 6 Hyperinsulinemic Hypoglycemia, Familial, 7 Hyperinsulinism, Diffuse Hyperinsulinism Due to Glucokinase Deficiency Hyperinsulinism Due to Glutamodehydrogenase Deficiency Hyperinsulinism Due to Hnf1a Deficiency Hyperinsulinism Due to Hnf4a Deficiency Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency Hyperinsulinism Due to Ucp2 Deficiency Hyperinsulinism, Focal Hyperkalemic Periodic Paralysis Hyperkeratosis-Hyperpigmentation Syndrome Hyperkeratosis Lenticularis Perstans Hyperlipidemia Type 3 Hyperlipoproteinemia, Type I Hyperlipoproteinemia, Type Id Hyperlipoproteinemia, Type Iii Hyperlipoproteinemia, Type Iv Hyperlipoproteinemia, Type V Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria Hyperlysinemia, Type I Hypermanganesemia with Dystonia Hypermanganesemia with Dystonia 1 Hypermanganesemia with Dystonia 2 Hypermethioninemia Due to Adenosine Kinase Deficiency Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency Hypermobile Ehlers-Danlos Syndrome Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Hyperostosis Cranialis Interna Hyperostosis Frontalis Interna Hyperoxaluria, Primary, Type I Hyperoxaluria, Primary, Type Ii Hyperoxaluria, Primary, Type Iii Hyperparathyroidism Hyperparathyroidism 1 Hyperparathyroidism 2 with Jaw Tumors Hyperparathyroidism 3 Hyperparathyroidism 4 Hyperparathyroidism, Neonatal Severe Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia Hyperphalangy Hyperphalangy, Bilateral Hyperphalangy, Unilateral Hyperphenylalaninemia, Bh4-Deficient, a Hyperphenylalaninemia, Bh4-Deficient, B Hyperphenylalaninemia, Bh4-Deficient, C Hyperphenylalaninemia, Bh4-Deficient, D Hyperphenylalaninemia Due to Dehydratase Deficiency Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency Hyperphosphatasia-Intellectual Disability Syndrome Hyperpigmentation, Familial Progressive, 1 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive Hyperplastic Polyposis Syndrome Hyperprolactinemia Hyperprolinemia Hyperprolinemia, Type I Hyperprolinemia, Type Ii Hyperreninemic Hypoaldosteronism, Familial, 2 Hyper-Reninism Hypersecretion of Adrenal Androgens, Familial Hypersensitivity Pneumonitis, Familial Hypersensitivity Vasculitis Hypertelorism and Tetralogy of Fallot Hypertelorism, Microtia, Facial Clefting Syndrome Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness Hypertelorism, Teebi Type Hypertension and Brachydactyly Syndrome Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Hypertension, Essential Hypertension, Essential 1 Hypertension, Essential 2 Hypertension, Essential 3 Hypertension, Essential 4 Hypertension, Essential 5 Hypertension, Essential 6 Hypertension, Essential 7 Hypertension, Essential 8 Hypertensive Hypokalemia Familial Hyperthermia Induced Defects Hyperthyroidism Hyperthyroidism, Familial Gestational Hyperthyroidism, Nonautoimmune Hypertrichosis, Anterior Cervical Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features Hypertrichosis Lanuginosa, Acquired Hypertrichosis Lanuginosa Congenita Hypertrichosis Universalis Congenita, Ambras Type Hypertriglyceridemia, Familial Hypertriglyceridemia, Transient Infantile Hypertrophic Branchial Myopathy Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy and Renal Tubular Disease Due to Mitochondrial Dna Mutation Hypertrophic Cardiomyopathy Due to Intensive Athletic Training Hypertrophic Hemangiectasia Hypertrophic Neuropathy of Dejerine-Sottas Hypertrophic Olivary Degeneration Hypertrophic or Verrucous Lupus Erythematosus Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 Hypertrophy of Breast Hypertrophy of the Breast, Juvenile Hypertryptophanemia Hyperuricemia Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome Hyperuricemic Nephropathy, Familial Juvenile, 1 Hyperuricemic Nephropathy, Familial Juvenile, 2 Hyperuricemic Nephropathy, Familial Juvenile, 3 Hyperuricemic Nephropathy, Familial Juvenile, 4 Hypnic Headache Hypoadrenalism Hypoadrenocorticism, Familial Hypoaldosteronism Hypoalphalipoproteinemia, Primary Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome Hypoascorbemia Hypocalcemia, Autosomal Dominant 1 Hypocalcemia, Autosomal Dominant 2 Hypocalcemic Vitamin D-Dependent Rickets Hypocalcified Amelogenesis Imperfecta Hypocalciuric Hypercalcemia, Familial, Type I Hypocalciuric Hypercalcemia, Familial, Type Ii Hypocalciuric Hypercalcemia, Familial, Type Iii Hypochondroplasia Hypochromic Microcytic Anemia with Iron Overload Hypocomplementemic Urticarial Vasculitis Hypodermyasis Hypodontia of Incisors and Premolars Hypodontia, X-Linked Hypofibrinogenemia, Familial Hypoganglionosis Hypoglossia-Hypodactylia Hypoglossia with Situs Inversus Hypoglycemia, Leucine-Induced Hypogonadism Cardiomyopathy Hypogonadism-Cataract Syndrome Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome Hypogonadism Primary Partial Alopecia Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism 12 with or Without Anosmia Hypogonadotropic Hypogonadism 1 with or Without Anosmia Hypogonadotropic Hypogonadism 23 Without Anosmia Hypogonadotropic Hypogonadism 24 Without Anosmia Hypogonadotropic Hypogonadism 2 with or Without Anosmia Hypogonadotropic Hypogonadism 7 with or Without Anosmia Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome Hypogonadotropic Hypogonadism Without Anosmia, X-Linked Hypohidrotic Ectodermal Dysplasia Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Immunodeficiency Hypoinsulinemic Hypoglycemia with Hemihypertrophy Hypokalemic Periodic Paralysis, Type 1 Hypokalemic Periodic Paralysis, Type 2 Hypoketonemic Hypoglycemia Hypolipoproteinemia Hypomagnesemia 1, Intestinal Hypomagnesemia 2, Renal Hypomagnesemia 3, Renal Hypomagnesemia 4, Renal Hypomagnesemia 5, Renal, with Ocular Involvement Hypomagnesemia 6, Renal Hypomandibular Faciocranial Dysostosis Hypomelanosis of Ito Hypomelanotic Disorder Hypomelia with Mullerian Duct Anomalies Hypomyelinating Leukodystrophy Hypomyelination Neuropathy-Arthrogryposis Syndrome Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity Hypoparathyroidism Hypoparathyroidism, Familial Isolated Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome Hypoparathyroidism-Retardation-Dysmorphism Syndrome Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Hypoparathyroidism, X-Linked Hypopharynx Cancer Hypophosphatasia Hypophosphatasia, Adult Hypophosphatasia, Childhood Hypophosphatasia, Infantile Hypophosphatemic Rickets, Autosomal Dominant Hypophosphatemic Rickets, Autosomal Recessive, 1 Hypophosphatemic Rickets, Autosomal Recessive, 2 Hypophosphatemic Rickets with Hypercalciuria, Hereditary Hypophosphatemic Rickets, X-Linked Dominant Hypophosphatemic Rickets, X-Linked Recessive Hypopituitarism Hypoplasia of the Mitral Valve Annulus Hypoplasia of the Tibia with Polydactyly Hypoplastic Amelogenesis Imperfecta Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome 1 Hypoplastic Left Heart Syndrome 2 Hypoplastic Right Heart Syndrome Hypoplastic Thumb Mullerian Aplasia Hypoplastic Thumbs Hydranencephaly Hyporeninemic Hypoaldosteronism Hyposmia Nasal Hypoplasia Hypogonadism Hypospadias Hypospadias 3, Autosomal Hypospadias-Intellectual Disability, Goldblatt Type Syndrome Hypospadias-Mental Retardation Syndrome Hypothalamic Adipsic Hypernatraemia Syndrome Hypothalamic Disease Hypothalamic Hamartomas Hypothalamic Hamartomas with Gelastic Seizures Hypothyroidism Hypothyroidism, Central, and Testicular Enlargement Hypothyroidism, Congenital, Nongoitrous, 1 Hypothyroidism, Congenital, Nongoitrous, 2 Hypothyroidism, Congenital, Nongoitrous, 3 Hypothyroidism, Congenital, Nongoitrous, 4 Hypothyroidism, Congenital, Nongoitrous, 5 Hypothyroidism, Congenital, Nongoitrous, 6 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function Hypothyroidism Due to Iodide Transport Defect Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response Hypotonia-Cystinuria Syndrome Hypotonia, Infantile, with Psychomotor Retardation Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome Hypotonic Sclerotic Muscular Dystrophy Hypotrichosis Hypotrichosis 1 Hypotrichosis 10 Hypotrichosis 11 Hypotrichosis 12 Hypotrichosis 13 Hypotrichosis 2 Hypotrichosis 3 Hypotrichosis 4 Hypotrichosis 5 Hypotrichosis 6 Hypotrichosis 7 Hypotrichosis 8 Hypotrichosis 9 Hypotrichosis and Recurrent Skin Vesicles Hypotrichosis, Congenital, with Juvenile Macular Dystrophy Hypotrichosis-Deafness Syndrome Hypotrichosis-Intellectual Disability, Lopes Type Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome Hypotrichosis-Lymphedema-Telangiectasia Syndrome Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome Hypotrichosis Simplex Hypotrichosis Simplex of the Scalp Hypouricemia, Familial Renal, Due to Tubular Hypersecretion Hypouricemia, Renal, 1 Hypouricemia, Renal, 2 Iatrogenic Botulism Iatrogenic or Traumatic Pituitary Deficiency Ichthyosiform Erythroderma, Corneal Involvement, and Deafness Ichthyosis Ichthyosis, Acquired Ichthyosis Alopecia Eclabion Ectropion Mental Retardation Ichthyosis Bullosa of Siemens Ichthyosis--Cheek--Eyebrow Syndrome Ichthyosis, Congenital, Autosomal Recessive 1 Ichthyosis, Congenital, Autosomal Recessive 10 Ichthyosis, Congenital, Autosomal Recessive 11 Ichthyosis, Congenital, Autosomal Recessive 12 Ichthyosis, Congenital, Autosomal Recessive 13 Ichthyosis, Congenital, Autosomal Recessive 14 Ichthyosis, Congenital, Autosomal Recessive 2 Ichthyosis, Congenital, Autosomal Recessive 3 Ichthyosis, Congenital, Autosomal Recessive 4a Ichthyosis, Congenital, Autosomal Recessive 4b Ichthyosis, Congenital, Autosomal Recessive 5 Ichthyosis, Congenital, Autosomal Recessive 6 Ichthyosis, Congenital, Autosomal Recessive 7 Ichthyosis, Congenital, Autosomal Recessive 8 Ichthyosis, Congenital, Autosomal Recessive 9 Ichthyosis Congenita with Biliary Atresia Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis Ichthyosis, Erythrokeratolysis Hemalis Ichthyosis, Follicular Ichthyosis Follicularis Atrichia Photophobia Syndrome Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration Ichthyosis Hystrix, Curth-Macklin Type Ichthyosis Hystrix Gravior Ichthyosis Lamellar 1 Ichthyosis Lamellar 2 Ichthyosis Lamellar 3 Ichthyosis, Lamellar, Autosomal Dominant Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis Ichthyosis Linearis Circumflexa Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin Ichthyosis Prematurity Syndrome Ichthyosis, Spastic Quadriplegia, and Mental Retardation Ichthyosis Tapered Fingers Midline Groove Up Ichthyosis Vulgaris Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation Ichthyosis, X-Linked Idiopathic Achalasia Idiopathic Acute Eosinophilic Pneumonia Idiopathic Acute Transverse Myelitis Idiopathic Alveolar Hypoventilation Syndrome Idiopathic and/or Familial Pulmonary Arterial Hypertension Idiopathic Anterior Uveitis Idiopathic Avascular Necrosis Idiopathic Bilateral Vestibulopathy Idiopathic Bronchiectasis Idiopathic Cd4-Positive T-Lymphocytopenia Idiopathic Central Precocious Puberty Idiopathic Congenital Hypothyroidism Idiopathic Copper-Associated Cirrhosis Idiopathic Dilatation of the Pulmonary Artery Idiopathic Disseminated Cytomegalovirus Infection Idiopathic Double Athetosis Idiopathic Dropped Head Syndrome Idiopathic Ductopenia Idiopathic Edema Idiopathic Eosinophilic Myositis Idiopathic Hemiconvulsion-Hemiplegia Syndrome Idiopathic Hypercalciuria Idiopathic Hypersomnia Idiopathic Hypersomnia with Long Sleep Time Idiopathic Hypersomnia Without Long Sleep Time Idiopathic Hypertrophic Pachymeningitis Idiopathic Infantile Hypercalcemia Idiopathic Inflammatory Myopathy Idiopathic Juxtafoveal Retinal Telangiectasia Idiopathic Linear Interstitial Keratitis Idiopathic Macular Telangiectasia Type 1 Idiopathic Macular Telangiectasia Type 3 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects Idiopathic Neonatal Atrial Flutter Idiopathic Neutropenia Idiopathic Panuveitis Idiopathic Peliosis Hepatis Idiopathic Phalangeal Acro-Osteolysis Idiopathic Pleuroparenchymal Fibroelastosis Idiopathic Posterior Uveitis Idiopathic Recurrent and Disabling Cutaneous Herpes Idiopathic Recurrent Pericarditis Idiopathic Recurrent Stupor Idiopathic Severe Pneumococcemia Idiopathic Spinal Cord Herniation Idiopathic Steroid-Sensitive Nephrotic Syndrome with Diffuse Mesangial Proliferation Idiopathic Steroid-Sensitive Nephrotic Syndrome with Focal Segmental Hyalinosis Idiopathic Steroid-Sensitive Nephrotic Syndrome with Minimal Change Idiopathic Subglottic Tracheal Stenosis Idiopathic Syringomyelia Idiopathic Uveal Effusion Syndrome Idiopathic Ventricular Fibrillation, Non Brugada Type Ifap Syndrome with or Without Bresheck Syndrome Iga Glomerulonephritis Igg4-Related Aortitis Igg4-Related Dacryoadenitis and Sialadenitis Igg4-Related Disease Igg4-Related Hepatopathy Igg4-Related Kidney Disease Igg4-Related Mesenteritis Igg4-Related Ophthalmic Disease Igg4-Related Pachymeningitis Igg4-Related Sclerosing Cholangitis Igg4-Related Submandibular Gland Disease Igg4-Related Thyroid Disease Iida Kannari Syndrome Il21r Immunodeficiency Ileal Neuroendocrine Tumor Ileal Pouch Anal Anastomosis Related Faecal Incontinence Illum Syndrome Imaizumi Kuroki Syndrome Iminoglycinuria Immature Teratoma of Ovary Immune Defect Due to Absence of Thymus Immune Deficiency, Familial Variable Immune Hydrops Fetalis Immunodeficiency 10 Immunodeficiency 11 Immunodeficiency 12 Immunodeficiency 13 Immunodeficiency 14 Immunodeficiency 15 Immunodeficiency 16 Immunodeficiency 17 Immunodeficiency 20 Immunodeficiency 21 Immunodeficiency 22 Immunodeficiency 23 Immunodeficiency 24 Immunodeficiency 26 with or Without Neurologic Abnormalities Immunodeficiency 27a Immunodeficiency 27b Immunodeficiency 28 Immunodeficiency 29 Immunodeficiency 30 Immunodeficiency 31a Immunodeficiency 31b Immunodeficiency 31c Immunodeficiency 32a Immunodeficiency 33 Immunodeficiency 34 Immunodeficiency 35 Immunodeficiency 38 with Basal Ganglia Calcification Immunodeficiency 40 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity Immunodeficiency 42 Immunodeficiency 46 Immunodeficiency 48 Immunodeficiency 54 Immunodeficiency 8 Immunodeficiency 9 Immunodeficiency by Defective Expression of Hla Class 1 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Immunodeficiency, Common Variable, 10 Immunodeficiency, Common Variable, 11 Immunodeficiency, Common Variable, 13 Immunodeficiency, Common Variable, 8, with Autoimmunity Immunodeficiency Due to a Classical Component Pathway Complement Deficiency Immunodeficiency Due to a Late Component of Complement Deficiency Immunodeficiency Due to Defect in Mapbp-Interacting Protein Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis Immunodeficiency with Hyper-Igm, Type 1 Immunodeficiency with Hyper-Igm, Type 2 Immunodeficiency with Hyper-Igm, Type 3 Immunodeficiency with Hyper-Igm, Type 4 Immunodeficiency with Hyper-Igm, Type 5 Immunodeficiency Without Anhidrotic Ectodermal Dysplasia Immunodeficiency with Thymoma Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked Immunoglobulin a Deficiency 1 Immunoglobulin a Deficiency 2 Immunoglobulin a Vasculitis Immunoglobulin G Deficiency Immunoglobulin Kappa Light Chain Deficiency Immunoneurologic Disorder, X-Linked Immunotactoid Glomerulopathy Immunotactoid or Fibrillary Glomerulopathy Impairment of Oral Perception Imperforate Oropharynx-Costo Vertebral Anomalies Syndrome Imperforate Oropharynx-Costo Vetebral Anomalies Inborn Amino Acid Metabolism Disorder Inborn Renal Aminoaciduria Incessant Infant Ventricular Tachycardia Incisors, Fused Mandibular Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia Inclusion Body Myositis Inclusion Conjunctivitis Incontinentia Pigmenti Indeterminate Cell Histiocytosis Indifference to Pain, Congenital, Autosomal Recessive Indolent B Cell Lymphoma Indolent Systemic Mastocytosis Infant Botulism Infant Epilepsy with Migrant Focal Crisis Infantile Apnea Infantile Axonal Neuropathy Infantile Bartter Syndrome with Sensorineural Deafness Infantile Cerebellar-Retinal Degeneration Infantile Choroidocerebral Calcification Syndrome Infantile Digital Fibromatosis Infantile Epileptic Encephalopathy Infantile Free Sialic Acid Storage Disease Infantile Glycine Encephalopathy Infantile Krabbe Disease Infantile Liver Failure Syndrome 1 Infantile Liver Failure Syndrome 2 Infantile Mercury Poisoning Infantile Myofibromatosis Infantile-Onset Ascending Hereditary Spastic Paralysis Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome Infantile Osteopetrosis with Neuroaxonal Dysplasia Infantile Recurrent Chronic Multifocal Osteomyolitis Infantile Scoliosis Infantile Sialic Acid Storage Disease Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome Infantile Spasms Broad Thumbs Infantile Striato Thalamic Degeneration Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations Infectious Anterior Uveitis Infectious Epithelial Keratitis Infectious Myocarditis Infectious Panuveitis Infectious Posterior Uveitis Infective Dermatitis Associated with Htlv-1 Infective Endocarditis Infective Myositis Inferior Vena Cava Interruption Inflammatory Bowel Disease Inflammatory Bowel Disease 1 Inflammatory Bowel Disease 10 Inflammatory Bowel Disease 11 Inflammatory Bowel Disease 12 Inflammatory Bowel Disease 13 Inflammatory Bowel Disease 14 Inflammatory Bowel Disease 15 Inflammatory Bowel Disease 16 Inflammatory Bowel Disease 17 Inflammatory Bowel Disease 18 Inflammatory Bowel Disease 19 Inflammatory Bowel Disease 2 Inflammatory Bowel Disease 20 Inflammatory Bowel Disease 21 Inflammatory Bowel Disease 22 Inflammatory Bowel Disease 23 Inflammatory Bowel Disease 24 Inflammatory Bowel Disease 25 Inflammatory Bowel Disease 25, Autosomal Recessive Inflammatory Bowel Disease 26 Inflammatory Bowel Disease 27 Inflammatory Bowel Disease 28 Inflammatory Bowel Disease 28, Autosomal Recessive Inflammatory Bowel Disease 3 Inflammatory Bowel Disease 4 Inflammatory Bowel Disease 5 Inflammatory Bowel Disease 6 Inflammatory Bowel Disease 7 Inflammatory Bowel Disease 8 Inflammatory Bowel Disease 9 Inflammatory Breast Carcinoma Inflammatory Diarrhea Inflammatory Leiomyosarcoma Inflammatory Linear Verrucous Epidermal Nevus Inflammatory Liposarcoma Inflammatory Myofibroblastic Tumor Inflammatory Myopathy with Abundant Macrophages Inflammatory Skin and Bowel Disease, Neonatal, 1 Inflammatory Skin and Bowel Disease, Neonatal, 2 Infundibulo-Neurohypophysitis Infundibulopelvic Dysgenesis Inhalational Botulism Inhalation Anthrax Inherited Bone Marrow Failure Syndromes Inherited Congenital Spastic Tetraplegia Inherited Hypoprothrombinemia Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency Inherited Predisposition to Essential Thrombocythemia Iniencephaly Insensitivity to Pain, Congenital, with Anhidrosis Insulin Autoimmune Syndrome Insulin-Like Growth Factor I Insulinoma Insulin-Resistance Type B Insulin-Resistant Acanthosis Nigricans, Type a Intellectual Deficit Buenos-Aires Type Intellectual Deficit - Short Stature - Hypertelorism Intellectual Disability - Athetosis - Microphthalmia Intellectual Disability-Cataracts-Kyphosis Syndrome Intellectual Disability-Developmental Delay-Contractures Syndrome Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome Intellectual Disability-Short Stature-Hypertelorism Syndrome Intellectual Disability-Spasticity-Ectrodactyly Syndrome Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation Interatrial Communication Intercellular Cholesterol Esterification Disease Interferon Gamma, Receptor 1, Deficiency Intermediate Anorectal Malformation Intermediate Congenital Nemaline Myopathy Intermediate Dend Syndrome Intermediate Maple Syrup Urine Disease Intermediate Severe Salla Disease Intermediate Uveitis Intermittent Hydrarthrosis Internal Carotid Agenesis Interstitial Cystitis Interstitial Granulomatous Dermatitis with Arthritis Interstitial Lung and Liver Disease Interstitial Lung Disease Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital Interstitial Nephritis, Karyomegalic Interstitial Pneumonitis, Desquamative, Familial Intervertebral Disc Disease Intestinal Botulism Intestinal Disease Intestinal Obstruction Intestinal Pseudo-Obstruction Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth Intestine Carcinoma in Situ Intracranial Aneurysm Intracranial Aneurysms Multiple Congenital Anomaly Intracranial Berry Aneurysm Intracranial Hypertension, Idiopathic Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome Intrahepatic Cholangiocarcinoma Intrahepatic Cholestasis Intralobar Congenital Pulmonary Sequestration Intramural Coronary Arterial Course Intraneural Perineurioma Intraocular Lymphoma Intraocular Medulloepithelioma Intraocular Melanoma Intrathoracic Kidney Vertebral Fusion Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome Intrauterine Growth Retardation - Mandibular Malar Hypoplasia Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity Intrauterine Infections Intravascular Large B-Cell Lymphoma Intravascular Papillary Endothelial Hyperplasia Intravenous Leiomyomatosis Intrinsic Factor Deficiency Invasive Aspergillosis Invasive Infections Due to Vancomycin-Resistant Enterococci Invasive Malignant Thymoma Invasive Mole Invasive Non-Typhoidal Salmonellosis Inverse Klippel-Trénaunay Syndrome Inverse Marcus-Gunn Phenomenon Iodine Antenatal Exposure Iqsec2 Irak4 Deficiency Irf6-Related Disorders Iridocorneal Endothelial Syndrome Iridogoniodysgenesis and Skeletal Anomalies Irinotecan Toxicity Iris Hypoplasia with Glaucoma Iron Overload in Africa Iron-Refractory Iron Deficiency Anemia Irons Bhan Syndrome Irvan Syndrome Ischiadic Hypoplasia Renal Dysfunction Immunodeficiency Ischiocoxopodopatellar Syndrome Ischio-Vertebral Syndrome Isobutyryl-Coa Dehydrogenase Deficiency Isochromosome Yp Isochromosomy Yq Isodicentric Chromosome 15 Syndrome Isolated Agammaglobulinemia Isolated Agenesis of Gallbladder Isolated Amyelia Isolated Aniridia Isolated Ankyloblepharon Filiforme Adnatum Isolated Anorectal Malformation Isolated Anterior Cervical Hypertrichosis Isolated Arhinencephaly Isolated Arrhinia Isolated Asymptomatic Elevation of Creatine Phosphokinase Isolated Atp Synthase Deficiency Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type Isolated Bilateral Hemispheric Cerebellar Hypoplasia Isolated Bone Marrow Mastocytosis Isolated Brachycephaly Isolated Cerebellar Hypoplasia/agenesis Isolated Cerebellar Vermis Agenesis Isolated Cerebellar Vermis Hypoplasia Isolated Cleft Lip Isolated Complex Iii Deficiency Isolated Congenital Alacrima Isolated Congenital Auditory Ossicle Malformation Isolated Congenital Breast Hypoplasia/aplasia Isolated Congenital Ectropion Isolated Congenital Hepatic Fibrosis Isolated Congenitally Uncorrected Transposition of the Great Arteries Isolated Congenital Megalocornea Isolated Congenital Microcephaly Isolated Congenital Nasal Pyriform Aperture Stenosis Isolated Congenital Radial Head Dislocation Isolated Congenital Syngnathia Isolated Dandy-Walker Malformation with Hydrocephalus Isolated Dandy-Walker Malformation Without Hydrocephalus Isolated Delta-Storage Pool Disease Isolated Ectopia Lentis Isolated Encephalocele Isolated Facial Myokymia Isolated Focal Cortical Dysplasia Type I Isolated Focal Cortical Dysplasia Type Ia Isolated Focal Cortical Dysplasia Type Ib Isolated Focal Cortical Dysplasia Type Ic Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency, Type Ia Isolated Growth Hormone Deficiency, Type Ib Isolated Growth Hormone Deficiency, Type Ii Isolated Growth Hormone Deficiency, Type Iii Isolated Klippel-Feil Syndrome Isolated Levocardia Isolated Lissencephaly Type 1 Without Known Genetic Defects Isolated Megalencephaly Isolated Micropenis Isolated Neonatal Sclerosing Cholangitis Isolated Optic Neuritis Isolated Oxycephaly Isolated Partial Cerebellar Vermis Agenesis Isolated Partial Vaginal Agenesis Isolated Plagiocephaly Isolated Pulmonary Capillaritis Isolated Scaphocephaly Isolated Splenogonadal Fusion Isolated Sternocostoclavicular Hyperostosis Isolated Total Cerebellar Vermis Agenesis Isolated Tracheoesophageal Fistula Isolated Trigonocephaly Isolated Unilateral Hemispheric Cerebellar Hypoplasia Isoniazid Toxicity Isotretinoin Embryopathy-Like Syndrome Isotretinoin Syndrome Isovaleric Acidemia Isthmian Coarctation Itch E3 Ubiquitin Ligase Deficiency Ivic Syndrome Jackhammer Esophagus Jackson-Weiss Syndrome Jacobsen Syndrome Jaffer Beighton Syndrome Jalili Syndrome Jamaican Vomiting Sickness Jankovic Rivera Syndrome Japanese Encephalitis Jawad Syndrome Jeavons Syndrome Jejunal Atresia Jejunal Atresia with Renal Adysplasia Jejunal Neuroendocrine Tumor Jervell and Lange-Nielsen Syndrome 1 Jervell and Lange-Nielsen Syndrome 2 Jessner Lymphocytic Infiltration of the Skin Jeune Syndrome Situs Inversus Johanson-Blizzard Syndrome Johnson Hall Krous Syndrome Johnson Munson Syndrome Johnson Neuroectodermal Syndrome Johnston Aarons Schelley Syndrome Joint Laxity, Familial Jones Hersh Yusk Syndrome Jorgenson Lenz Syndrome Joubert Syndrome 1 Joubert Syndrome 10 Joubert Syndrome 13 Joubert Syndrome 14 Joubert Syndrome 15 Joubert Syndrome 16 Joubert Syndrome 17 Joubert Syndrome 18 Joubert Syndrome 2 Joubert Syndrome 20 Joubert Syndrome 21 Joubert Syndrome 22 Joubert Syndrome 23 Joubert Syndrome 24 Joubert Syndrome 25 Joubert Syndrome 26 Joubert Syndrome 27 Joubert Syndrome 28 Joubert Syndrome 3 Joubert Syndrome 30 Joubert Syndrome 31 Joubert Syndrome 32 Joubert Syndrome 33 Joubert Syndrome 4 Joubert Syndrome 5 Joubert Syndrome 6 Joubert Syndrome 7 Joubert Syndrome 8 Joubert Syndrome 9 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy Joubert Syndrome with Ocular Anomalies Joubert Syndrome with Oculorenal Anomalies Joubert Syndrome with Renal Anomalies Judge Misch Wright Syndrome Jumping Frenchmen of Maine Junctional Epidermolysis Bullosa Junctional Epidermolysis Bullosa Inversa Jung Wolff Back Stahl Syndrome Juvenile Absence Epilepsy Juvenile Amyotrophic Lateral Sclerosis Juvenile Dermatitis Herpetiformis Juvenile Glaucoma Juvenile Hereditary Hemochromatosis Juvenile Huntington Disease Juvenile Macular Degeneration and Hypotrichosis Juvenile Myasthenia Gravis Juvenile Myelomonocytic Leukemia Juvenile Nasopharyngeal Angiofibroma Juvenile-Onset Parkinson Disease Juvenile-Onset Small-Fiber Polyneuropathy Juvenile Ossifying Fibroma Juvenile Overlap Myositis Juvenile Pilocytic Astrocytoma Juvenile Polymyositis Juvenile Polyposis Syndrome Juvenile Primary Osteoporosis Juvenile Rheumatoid Arthritis Juvenile Sialidosis Type 2 Juvenile Spinal Muscular Atrophy Juvenile Spondyloarthropathy Juvenile Temporal Arteritis Juvenile Xanthogranuloma Juxtaposition of the Atrial Appendages Kabuki Syndrome 1 Kabuki Syndrome 2 Kagami-Ogata Syndrome Kala-Azar 1 Kala-Azar 2 Kala-Azar 3 Kallikrein Hypertension Kallmann Syndrome Kallmann Syndrome 3 Kallmann Syndrome 4 Kallmann Syndrome 5 Kallmann Syndrome 6 Kallmann Syndrome-Heart Disease Syndrome Kanzaki Disease Kaolin Pneumoconiosis Kaplan Plauchu Fitch Syndrome Kaposiform Hemangioendothelioma Kaposiform Lymphangiomatosis Kaposi Sarcoma Kapur-Toriello Syndrome Karak Syndrome Karandikar Maria Kamble Syndrome Kartagener Syndrome Kashani Strom Utley Syndrome Kasznica Carlson Coppedge Syndrome Katsantoni Papadakou Lagoyanni Syndrome Kaufman Oculocerebrofacial Syndrome Kawasaki Disease Kbg Syndrome Kcnq2-Related Disorders Kearns-Sayre Syndrome Kelley-Seegmiller Syndrome Kenny-Caffey Syndrome Kenny-Caffey Syndrome, Type 1 Kenny-Caffey Syndrome, Type 2 Keppen-Lubinsky Syndrome Keratitis, Hereditary Keratoacanthoma Keratoconjunctivitis Sicca Keratoconus Keratoconus 1 Keratoconus 2 Keratoconus 3 Keratoconus 4 Keratoconus 5 Keratoconus 6 Keratoconus 7 Keratoconus 8 Keratoconus Posticus Circumscriptus Keratocystic Odontogenic Tumor Keratoderma Palmoplantaris Transgrediens Keratoderma Palmoplantar Spastic Paralysis Keratoderma, Palmoplantar, with Deafness Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy Keratolytic Winter Erythema Keratomalacia Keratosis, Focal Palmoplantar and Gingival Keratosis Follicularis, Dwarfism, and Cerebral Atrophy Keratosis Follicularis Spinulosa Decalvans Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Keratosis Palmaris Et Plantaris with Clinodactyly Keratosis Palmoplantaris Adenocarcinoma of the Colon Keratosis Palmoplantaris Striata Ii Keratosis Palmoplantaris Striata Iii Keratosis Pilaris Atrophicans Keratosis, Seborrheic Kerion Celsi Kernicterus Kernicterus Due to Isoimmunization Keshan Disease Ketamine-Induced Biliary Dilatation Keutel Syndrome Kidney Benign Neoplasm Kidney Cancer Kidney Cancer, Childhood Kidney Carcinoma in Situ Kidney Clear Cell Sarcoma Kid Syndrome Kienbock's Disease Kifafa Seizure Disorder Kikuchi Disease Kimura Disease Kindler Syndrome Kingella Infections Klatskin's Tumor Klebsiella Infection Kleeblattschaedel Kleefstra Syndrome Kleefstra Syndrome 1 Kleefstra Syndrome 2 Kleefstra Syndrome Due to a Point Mutation Kleine-Levin Hibernation Syndrome Kleiner Holmes Syndrome Klhl9-Related Early-Onset Distal Myopathy Klippel-Feil Syndrome Klippel-Feil Syndrome 1, Autosomal Dominant Klippel-Feil Syndrome 2, Autosomal Recessive Klippel-Feil Syndrome 3, Autosomal Dominant Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism Klippel-Trenaunay-Weber Syndrome Klumpke Paralysis Kluver-Bucy Syndrome Kniest Dysplasia Kniest-Like Dysplasia, Lethal Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis Knobloch Syndrome Knobloch Syndrome 1 Knuckle Pads, Leuconychia and Sensorineural Deafness Knuckle Pads, Leukonychia, and Sensorineural Deafness Kocher-Debre-Semelaigne Syndrome Kohler's Disease Kohlschutter-Tonz Syndrome Kommerell Diverticulum Koolen-De Vries Syndrome Koolen-De Vries Syndrome Due to a Point Mutation Koone Rizzo Elias Syndrome Koro Kosaki Overgrowth Syndrome Kosztolanyi Syndrome Kotzot-Richter Syndrome Kousseff Nichols Syndrome Kowarski Syndrome Kozlowski Brown Hardwick Syndrome Kozlowski-Krajewska Syndrome Kozlowski Ouvrier Syndrome Kozlowski Rafinski Klicharska Syndrome Kozlowski Warren Fisher Syndrome Krabbe Disease Krabbe Disease, Atypical, Due to Saposin a Deficiency Krauss Herman Holmes Syndrome Krieble Bixler Syndrome Krukenberg Carcinoma Kshv Inflammatory Cytokine Syndrome Kufor-Rakeb Syndrome Kuru Kuster Majewski Hammerstein Syndrome Kuster Syndrome Kuzniecky Andermann Syndrome Kyasanur Forest Disease Kyphomelic Dysplasia Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome Kyphoscoliosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome Kyphoscoliotic Ehlers-Danlos Syndrome Kyrle Disease L-2-Hydroxyglutaric Aciduria Labrador Lung Lachiewicz Sibley Syndrome Lacrimal Duct Defect Lacrimoauriculodentodigital Syndrome La Crosse Encephalitis Lactase Deficiency, Congenital Lactate Dehydrogenase B Deficiency Lactate Dehydrogenase Deficiency Lactate Dehydrogenase Deficiency Type C Lactic Acidosis Lactic Acidosis, Chronic Adult Form Lactic Acidosis Congenital Infantile Lactobezoar Lactocele Lagophthalmia Cleft Lip Palate Lambdoid Synostosis Lambert-Eaton Myasthenic Syndrome Lambert Syndrome Lambotte Syndrome Lamb-Shaffer Syndrome Landau-Kleffner Syndrome Landy-Donnai Syndrome Langerhans Cell Histiocytosis Langerhans Cell Sarcoma Langer Mesomelic Dysplasia Langer Nishino Yamaguchi Syndrome Large Cell Carcinoma Large Granular Lymphocyte Leukemia L-Arginine:glycine Amidinotransferase Deficiency Laron Syndrome Larsen-Like Syndrome Larsen-Like Syndrome, Lethal Type Larsen Syndrome Laryngeal Abductor Paralysis Laryngeal Abductor Paralysis-Intellectual Disability Syndrome Laryngeal Cancer, Childhood Laryngeal Cleft Laryngeal Neuroendocrine Tumor Laryngeal Papillomatosis Laryngeal Web, Familial Laryngocele Laryngomalacia Laryngoonychocutaneous Syndrome Laryngotracheal Angioma Laryngotracheoesophageal Cleft Type 0 Laryngotracheoesophageal Cleft Type 1 Laryngotracheoesophageal Cleft Type 2 Laryngotracheoesophageal Cleft Type 4 Larynx Atresia Larynx Cancer Larynx Carcinoma in Situ Larynx, Congenital Partial Atresia of Lassa Fever Late Congenital Syphilis Late-Infantile/juvenile Krabbe Disease Late-Onset Distal Myopathy, Markesbery-Griggs Type Late-Onset Focal Dermal Elastosis Late-Onset Isolated Acth Deficiency Late-Onset Junctional Epidermolysis Bullosa Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome Late-Onset Nephronophthisis Late-Onset Retinal Degeneration Lateral Body Wall Defect Laterality Defects, Autosomal Dominant Laterality Defects Dominant Lateral Medullary Syndrome Lateral Meningocele Syndrome Lateral Sclerosis Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities Lathosterolosis Lathyrism Lattice Corneal Dystrophy Lattice Corneal Dystrophy Type Ii Laubry-Pezzi Syndrome Laugier-Hunziker Syndrome Laurence-Moon Syndrome Laurence Prosser Rocker Syndrome Laurin-Sandrow Syndrome Leber Congenital Amaurosis Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 10 Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 12 Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 14 Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 16 Leber Congenital Amaurosis 17 Leber Congenital Amaurosis 2 Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 4 Leber Congenital Amaurosis 5 Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7 Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 9 Leber Hereditary Optic Neuropathy Leber Optic Atrophy and Dystonia Lecithin:cholesterol Acyltransferase Deficiency Ledderhose Disease Left-Sided Gallbladder Left Superior Vena Cava Persisting to Left-Sided Atrium Left Ventricular Noncompaction Left Ventricular Noncompaction 1 Left Ventricular Noncompaction 10 Left Ventricular Noncompaction 2 Left Ventricular Noncompaction 7 Left Ventricular Noncompaction 8 Leg Absence Deformity Cataract Leg, Absence Deformity of, with Congenital Cataract Legg-Calve-Perthes Disease Legionellosis Legius Syndrome Leigh Syndrome Leigh Syndrome, French Canadian Type Leigh Syndrome with Leukodystrophy Leigh Syndrome with Nephrotic Syndrome Leiner Disease Leiomyoma of Vulva and Esophagus Leiomyomatosis, Diffuse, with Alport Syndrome Leiomyomatosis of Esophagus, Cataract and Hematuria Leiomyosarcoma Leiomyosarcoma of the Cervix Uteri Leishmaniasis Leisti Hollister Rimoin Syndrome Lelis Syndrome Le Marec Bracq Picaud Syndrome Lemierre's Syndrome Lennox-Gastaut Syndrome Lentiginosis, Inherited Patterned Lentigo Maligna Melanoma Lenz-Majewski Hyperostotic Dwarfism Leopard Syndrome Leopard Syndrome 1 Leopard Syndrome 2 Leopard Syndrome 3 Leprosy 1 Leprosy 2 Leprosy 3 Leprosy 4 Leprosy 5 Leprosy 6 Leptin Deficiency or Dysfunction Leptin Receptor Deficiency Leptomyelolipoma Leptospirosis Leri-Weill Dyschondrosteosis Lesch-Nyhan Syndrome Lethal Arthrogryposis with Anterior Horn Cell Disease Lethal Chondrodysplasia Moerman Type Lethal Chondrodysplasia Seller Type Lethal Congenital Contracture Syndrome Lethal Congenital Contracture Syndrome 1 Lethal Congenital Contracture Syndrome 10 Lethal Congenital Contracture Syndrome 11 Lethal Congenital Contracture Syndrome 2 Lethal Congenital Contracture Syndrome 3 Lethal Congenital Contracture Syndrome 4 Lethal Congenital Contracture Syndrome 5 Lethal Congenital Contracture Syndrome 6 Lethal Congenital Contracture Syndrome 7 Lethal Congenital Contracture Syndrome 8 Lethal Congenital Contracture Syndrome 9 Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome Lethal Idiopathic Viral Infection Lethal Midline Granuloma Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type Letterer-Siwe Disease Leucocyte Adhesion Defect Leukemia, Acute Lymphoblastic Leukemia, Acute Lymphoblastic 2 Leukemia, Acute Lymphoblastic 3 Leukemia, Acute Myeloid Leukemia, B-Cell, Chronic Leukemia, Chronic Lymphocytic Leukemia, Chronic Lymphocytic 1 Leukemia, Chronic Lymphocytic 2 Leukemia, Chronic Lymphocytic 3 Leukemia, Chronic Lymphocytic 4 Leukemia, Chronic Lymphocytic 5 Leukemia, Chronic Myeloid Leukemia, T-Cell, Chronic Leukocyte Adhesion Deficiency, Type I Leukocyte Adhesion Deficiency, Type Iii Leukodystrophy Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant Leukodystrophy, Hypomyelinating, 10 Leukodystrophy, Hypomyelinating, 11 Leukodystrophy, Hypomyelinating, 12 Leukodystrophy, Hypomyelinating, 13 Leukodystrophy, Hypomyelinating, 2 Leukodystrophy, Hypomyelinating, 3 Leukodystrophy, Hypomyelinating, 4 Leukodystrophy, Hypomyelinating, 5 Leukodystrophy, Hypomyelinating, 6 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism Leukodystrophy, Hypomyelinating, 9 Leukodystrophy, Pseudometachromatic Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema Leukoencephalopathy, Cerebral Calcifications, and Cysts Leukoencephalopathy, Cystic, Without Megalencephaly Leukoencephalopathy, Hereditary Diffuse, with Spheroids Leukoencephalopathy Palmoplantar Keratoderma Leukoencephalopathy with Ataxia Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Leukoencephalopathy with Dystonia and Motor Neuropathy Leukoencephalopathy with Metaphyseal Chondrodysplasia Leukoencephalopathy with Vanishing White Matter Leukomalacia Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis Leukomelanoderma Mental Redardation Hypotrichosis Leukonychia Totalis Leukonychia Totalis-Acanthosis-Nigricans-Like Lesions-Abnormal Hair Syndrome Leukoplakia Leukotriene C4 Synthase Deficiency Levator Syndrome Levic Stefanovic Nikolic Syndrome Levocardia Levotransposition of the Great Arteries Levy-Yeboa Syndrome Lewis-Sumner Syndrome Leydig Cell Hypoplasia Leydig Cell Hypoplasia, Type I L-Ferritin Deficiency Lichen Amyloidosis Lichen Planopilaris Lichen Planus Lichen Planus, Familial Lichen Planus Pemphigoides Lichen Planus Pigmentosus Lichen Sclerosus Lichtenstein-Knorr Syndrome Lichtenstein Syndrome Liddle Syndrome Liebenberg Syndrome Li-Fraumeni Syndrome Li-Fraumeni Syndrome 2 Lig4 Syndrome Light and Heavy Chain Deposition Disease Light Chain Deposition Disease Ligneous Conjunctivitis Limbal Stem Cell Deficiency Limb-Body Wall Complex Limb Defects, Distal Transverse, with Mental Retardation and Spasticity Limb-Girdle Muscular Dystrophy Limb-Girdle Muscular Dystrophy, Type 1g Limbic Encephalitis Limbic Encephalitis with Caspr2 Antibodies Limbic Encephalitis with Dpp6 Antibodies Limbic Encephalitis with Lgi1 Antibodies Limbic Encephalitis with Ncmags Antibodies Limbic Encephalitis with Neurexin-3 Antibodies Limbic Encephalitis with Nmda Receptor Antibodies Limb-Mammary Syndrome Limb Reduction Defect Limb Transversal Defect-Cardiac Anomaly Syndrome Limited Scleroderma Linear Atrophoderma of Moulin Linear Focal Elastosis Linear Hamartoma Syndrome Linear Iga Disease Linear Lichen Planus Linear Porokeratosis Linear Scleroderma Linear Skin Defects with Multiple Congenital Anomalies 1 Linear Skin Defects with Multiple Congenital Anomalies 2 Linear Skin Defects with Multiple Congenital Anomalies 3 Linear Verrucous Nevus Syndrome Lin-Gettig Syndrome Lip and Oral Cavity Cancer Lipase Deficiency, Combined Lipedema Lipedematous Scalp Lipe-Related Familial Partial Lipodystrophy Lipidosis with Triglycerid Storage Disease Lipid Pneumonia Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency Lip, Median Nodule of Upper Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy Lipoblastoma Lipodermatosclerosis Lipodystrophy Lipodystrophy, Congenital Generalized, Type 1 Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Congenital Generalized, Type 3 Lipodystrophy, Congenital Generalized, Type 4 Lipodystrophy Due to Peptidic Growth Factors Deficiency Lipodystrophy, Familial Partial, Type 1 Lipodystrophy, Familial Partial, Type 2 Lipodystrophy, Familial Partial, Type 3 Lipodystrophy, Familial Partial, Type 4 Lipodystrophy, Familial Partial, Type 5 Lipodystrophy, Familial Partial, Type 6 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones Lipodystrophy, Partial, Acquired Lipogranulomatosis Lipoic Acid Biosynthesis Defects Lipoic Acid Synthetase Deficiency Lipoid Congenital Adrenal Hyperplasia Lipoid Nephrosis Lipoid Proteinosis of Urbach and Wiethe Lipomatosis Lipomatosis, Multiple Lipomatosis, Multiple Symmetric Lipomyelomeningocele Lipoprotein Glomerulopathy Liposarcoma Lipoyltransferase 1 Deficiency Lissencephaly Lissencephaly 1 Lissencephaly 2 Lissencephaly 3 Lissencephaly 4 Lissencephaly 5 Lissencephaly 7 with Cerebellar Hypoplasia Lissencephaly 8 Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome Lissencephaly Type Iii and Bone Dysplasia Lissencephaly with Cerebellar Hypoplasia Lissencephaly with Cerebellar Hypoplasia Type a Lissencephaly with Cerebellar Hypoplasia Type B Lissencephaly with Cerebellar Hypoplasia Type C Lissencephaly with Cerebellar Hypoplasia Type D Lissencephaly with Cerebellar Hypoplasia Type E Lissencephaly with Cerebellar Hypoplasia Type F Lissencephaly, X-Linked, 1 Lissencephaly, X-Linked, 2 Listeriosis Littoral Cell Angioma of the Spleen Livedoid Vasculopathy Liver Angiosarcoma Liver Disease Liver Failure, Infantile, Transient Lmna-Related Cardiocutaneous Progeria Syndrome Lobar Holoprosencephaly Localized Chondrosarcoma Localized Hypertrophic Neuropathy Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type Localized Lichen Myxedematosus with Mixed Features of Different Subtypes Localized Lichen Myxedematosus with Monoclonal Gammopathy or Systemic Symptoms Localized Lipodystrophy Localized Pagetoid Reticulosis Localized Scleroderma Locked-in Syndrome Lockwood Feingold Syndrome Loeffler Endocarditis Loeys-Dietz Syndrome Loeys-Dietz Syndrome 1 Loeys-Dietz Syndrome 2 Loeys-Dietz Syndrome 3 Loeys-Dietz Syndrome 4 Loeys-Dietz Syndrome 5 Logopenic Progressive Aphasia Loiasis Loin Pain Hematuria Syndrome Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency Longitudinal Vaginal Septum Long Qt Syndrome Long Qt Syndrome 1 Long Qt Syndrome 10 Long Qt Syndrome 11 Long Qt Syndrome 12 Long Qt Syndrome 13 Long Qt Syndrome 14 Long Qt Syndrome 15 Long Qt Syndrome 2 Long Qt Syndrome 3 Long Qt Syndrome 5 Long Qt Syndrome 6 Long Qt Syndrome 9 Long-Thumb Brachydactyly Syndrome Loose Anagen Hair Syndrome Lopes Gorlin Syndrome Low Anorectal Malformation Lowe Oculocerebrorenal Syndrome Lower Limb Deficiency-Hypospadias Syndrome Lower Limb Hypertrophy Lower Lip Fistula Lower Mesodermal Defects Sequence Low-Flow Priapism Low Grade Ependymoma Low-Grade Neuroendocrine Tumor of the Corpus Uteri Lowry-Maclean Syndrome Lrp5-Related Primary Osteoporosis Lubani-Al Saleh-Teebi Syndrome Lubinsky Syndrome Lubs X-Linked Mental Retardation Syndrome Lujan Syndrome Lujo Hemorrhagic Fever Lumbar Malsegmentation Short Stature Lumbosacral Spina Bifida Aperta Lumbosacral Spina Bifida Cystica Lung Agenesis Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome Lung Cancer Susceptibility 1 Lung Cancer Susceptibility 3 Lung Cancer Susceptibility 4 Lung Cancer Susceptibility 5 Lung Clear Cell Carcinoma Lung Large Cell Carcinoma Lupus Erythematosus Lupus Erythematosus Panniculitis Lupus Erythematosus Tumidus Lyme Disease Lymphangiectasia, Intestinal Lymphangiectasia, Pulmonary, Congenital Lymphangiectasis Lymphangioleiomyomatosis Lymphangiomatosis Lymphangiosarcoma Lymphatic Malformations Lymphedema Lymphedema and Cerebral Arteriovenous Anomaly Lymphedema, Cardiac Septal Defects, and Characteristic Facies Lymphedema, Congenital Recessive Lymphedema-Distichiasis Syndrome Lymphedema, Hereditary, Ia Lymphedema, Hereditary, Ib Lymphedema, Hereditary, Ic Lymphedema, Hereditary, Id Lymphedema, Hereditary, Ii Lymphedema, Hereditary, Iii Lymphedema-Hypoparathyroidism Syndrome Lymphedema, Primary, with Myelodysplasia Lymph Node Cancer Lymphoadenopathic Mastocytosis with Eosinophilia Lymphoblastic Leukemia Lymphoblastic Lymphoma Lymphocytes Absent Lymphocytic Colitis Lymphocytic Hypereosinophilic Syndrome Lymphocytic Hypophysitis Lymphocytic Infiltrate of Jessner Lymphocytic Vasculitis Lymphoepithelial-Like Carcinoma Lymphogranuloma Venereum Lymphoid Interstitial Pneumonia Lymphoma Aids Related Lymphoma, Gastric Non Hodgkins Type Lymphoma, Hodgkin, Classic Lymphoma, Hodgkin, X-Linked Pseudoautosomal Lymphoma, Hodgkin, Y-Linked Pseudoautosomal Lymphoma, Large-Cell, Immunoblastic Lymphoma, Mucosa-Associated Lymphoid Type Lymphomatoid Granulomatosis Lymphomatoid Papulosis Lymphomatous Meningitis Lymphomatous Thyroiditis Lymphoplasmacytic Lymphoma Without Igm Production Lymphoproliferative Syndrome Lymphoproliferative Syndrome 1 Lymphoproliferative Syndrome 2 Lymphoproliferative Syndrome, X-Linked, 1 Lymphoproliferative Syndrome, X-Linked, 2 Lymphosarcoma Lynch Syndrome Lynch Syndrome I Lysinuric Protein Intolerance Lysosomal Acid Lipase Deficiency Macdermot-Winter Syndrome Machado-Joseph Disease Machado-Joseph Disease Type 1 Machado-Joseph Disease Type 2 Machado-Joseph Disease Type 3 Macrocephaly/autism Syndrome Macrocephaly, Benign Familial Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Macrocephaly, Macrosomia, and Facial Dysmorphism Syndrome Macrocephaly Mesodermal Hamartoma Spectrum Macrocephaly-Short Stature-Paraplegia Syndrome Macrodactyly of Fingers Macrodactyly of Fingers, Bilateral Macrodactyly of Fingers, Unilateral Macrodactyly of the Foot Macrodactyly of the Hand Macrodactyly of Toes Macrodactyly of Toes, Bilateral Macrodactyly of Toes, Unilateral Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance Macroglobulinemia, Waldenstrom 1 Macroglobulinemia, Waldenstrom 2 Macroglossia Macrophage Activation Syndrome Macrophagic Myofasciitis Macrophthalmia, Colobomatous, with Microcornea Macrosomia with Microphthalmia, Lethal Macrostomia, Isolated Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome Macrothrombocytopenia Progressive Deafness Macrothrombocytopenia with Mitral Valve Insufficiency Macrozoospermia Macs Syndrome Macular Amyloidosis Macular Degeneration, Age-Related, 1 Macular Degeneration, Age-Related, 10 Macular Degeneration, Age-Related, 11 Macular Degeneration, Age-Related, 12 Macular Degeneration, Age-Related, 13 Macular Degeneration, Age-Related, 14 Macular Degeneration, Age-Related, 15 Macular Degeneration, Age-Related, 2 Macular Degeneration, Age-Related, 4 Macular Degeneration, Age-Related, 5 Macular Degeneration, Age-Related, 6 Macular Degeneration, Age-Related, 7 Macular Degeneration, Age-Related, 8 Macular Degeneration, Age-Related, 9 Macular Degeneration, Early-Onset Macular Dystrophy, Concentric Annular Macular Dystrophy, Corneal Macular Dystrophy, Dominant Cystoid Macular Dystrophy, Patterned, 1 Macular Dystrophy, Patterned, 2 Macular Dystrophy, Patterned, 3 Macular Dystrophy, Retinal, 1, North Carolina Type Macular Dystrophy, Retinal, 2 Macular Dystrophy, Retinal, 3 Macular Dystrophy, Vitelliform, 1 Macular Dystrophy, Vitelliform, 2 Macular Dystrophy, Vitelliform, 3 Macular Dystrophy, Vitelliform, 4 Macular Dystrophy, Vitelliform, 5 Macules Hereditary Congenital Hypopigmented and Hyperpigmented Maculopapular Cutaneous Mastocytosis Madelung Deformity Madelung Deformity, Bilateral Madelung Deformity, Unilateral Madokoro Ohdo Sonoda Syndrome Madras Motor Neuron Disease Magic Syndrome Mahvash Disease Majeed Syndrome Malakoplakia Malaria Mal De Debarquement Syndrome Mal De Meleda Male Infertility with Spermatogenesis Disorder Male Infertility with Spermatogenesis Disorder Due to Single Gene Mutation Male Infertility with Teratozoospermia Due to Single Gene Mutation Male Pseudohermaphroditism Due to Defective Lh Molecule Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type Maligant Granulosa Cell Tumor of the Ovary Malignancy Diagnosed During Pregnancy Malignant Acrospiroma Malignant Adult Ependymoma Malignant Atrophic Papulosis Malignant Conjunctival Melanoma Malignant Cylindroma Malignant Dysgerminomatous Germ Cell Tumor of the Ovary Malignant Ectomesenchymoma Malignant Ependymoma Malignant Epithelial Tumor of the Salivary Glands Malignant Epithelioid Hemangioendothelioma Malignant Essential Hypertension Malignant Germ Cell Tumor Malignant Germ Cell Tumor of the Cervix Uteri Malignant Germ Cell Tumor of the Corpus Uteri Malignant Germ Cell Tumor of the Vagina Malignant Glioma Malignant Histiocytosis Malignant Hypertension Malignant Hyperthermia Malignant Hyperthermia 1 Malignant Hyperthermia 2 Malignant Hyperthermia 3 Malignant Hyperthermia 4 Malignant Hyperthermia 5 Malignant Hyperthermia 6 Malignant Hyperthermia Arthrogryposis Torticollis Malignant Hyperthermia of Anesthesia Malignant Melanoma, Childhood Malignant Melanoma of the Mucosa Malignant Mesenchymoma Malignant Migrating Partial Seizures of Infancy Malignant Mixed Mullerian Tumor Malignant Non-Dysgerminomatous Germ Cell Tumor of Ovary Malignant Peripheral Nerve Sheath Tumor Malignant Peripheral Nerve Sheath Tumor with Perineurial Differentiation Malignant Peritoneal Mesothelioma Malignant Pineal Area Germ Cell Neoplasm Malignant Secondary Hypertension Malignant Sertoli-Leydig Cell Tumor Malignant Sertoli-Leydig Cell Tumor of the Ovary Malignant Spiradenoma Malignant Syringoma Malignant Teratocarcinosarcoma Malignant Triton Tumor Malignant Type Ab Thymoma Malignant Type a Thymoma Mallory-Weiss Syndrome Malonyl-Coa Decarboxylase Deficiency Malposition of the Coronary Ostium Mammary-Digital-Nail Syndrome Mammary Paget's Disease Man1b1-Cdg Mandibular Arteriovenous Malformation Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome Mandibuloacral Dysplasia with Type a Lipodystrophy Mandibuloacral Dysplasia with Type B Lipodystrophy Mandibulofacial Dysostosis, Guion-Almeida Type Mandibulofacial Dysostosis with Alopecia Mandibulofacial Dysostosis with Macroblepharon and Macrostomia Manganese Poisoning Manitoba Oculotrichoanal Syndrome Mannose-Binding Lectin Deficiency Mannose-Binding Lectin Protein Deficiency Mannosidosis Mannosidosis, Alpha B, Lysosomal Mannosidosis, Beta a, Lysosomal Manouvrier Syndrome Mansonelliasis Mantle Cell Lymphoma Maple Syrup Urine Disease Marburg Acute Multiple Sclerosis Marburg Hemorrhagic Fever Marchiafava Bignami Disease Marcus Gunn Phenomenon Marden Walker Like Syndrome Marden-Walker Syndrome Marek Disease Marfan Lipodystrophy Syndrome Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome Marfanoid Habitus with Microcephaly and Glomerulonephritis Marfanoid Hypermobility Syndrome Marfanoid Mental Retardation Syndrome, Autosomal Marfan Syndrome Marginal Glioneuronal Heterotopia Marginal Zone B-Cell Lymphoma Marie Unna Congenital Hypotrichosis Marin-Amat Syndrome Marinesco-Sjogren-Like Syndrome Marinesco-Sjogren Syndrome Markel Vikkula Mulliken Syndrome Maroteaux Fonfria Syndrome Maroteaux Stanescu Cousin Syndrome Marphanoid Syndrome Type De Silva Marsden Nyhan Sakati Syndrome Marshall-Smith Syndrome Marshall Syndrome Martinez Monasterio Pinheiro Syndrome Martsolf Syndrome Masa Syndrome Masp2 Deficiency Massa Casaer Ceulemans Syndrome Mass Syndrome Mast Cell Activation Syndrome Mast Cell Disease Mast-Cell Sarcoma Mastocytic Enterocolitis Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia Mastroiacovo De Rosa Satta Syndrome Mastroiacovo Gambi Segni Syndrome Mast Syndrome Maternal Hyperphenylalaninemia Maternal Hyperthermia Induced Birth Defects Maternally-Inherited Cardiomyopathy and Hearing Loss Maternally-Inherited Mitochondrial Dystonia Maternally-Inherited Progressive External Ophthalmoplegia Maternally-Inherited Spastic Paraplegia Maternal Uniparental Disomy of Chromosome 1 Maternal Uniparental Disomy of Chromosome 13 Maternal Uniparental Disomy of Chromosome 16 Maternal Uniparental Disomy of Chromosome 2 Maternal Uniparental Disomy of Chromosome 21 Maternal Uniparental Disomy of Chromosome 22 Maternal Uniparental Disomy of Chromosome 4 Maternal Uniparental Disomy of Chromosome 6 Maternal Uniparental Disomy of Chromosome 9 Maternal Uniparental Disomy of Chromosome X Matsoukas Liarikos Giannika Syndrome Maturity-Onset Diabetes of the Young Maturity-Onset Diabetes of the Young, Type 1 Maturity-Onset Diabetes of the Young, Type 10 Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type 13 Maturity-Onset Diabetes of the Young, Type 14 Maturity-Onset Diabetes of the Young, Type 2 Maturity-Onset Diabetes of the Young, Type 3 Maturity-Onset Diabetes of the Young, Type 4 Maturity-Onset Diabetes of the Young, Type 6 Maturity-Onset Diabetes of the Young, Type 7 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction Maturity-Onset Diabetes of the Young, Type 9 Maumenee Syndrome Maxillary Arteriovenous Malformation Maxillary Double Lip Maxillofacial Dysostosis Maxillonasal Dysplasia, Binder Type Mayer-Rokitansky-Kuster-Hauser Syndrome May-Thurner Syndrome Mazabraud Syndrome Mbd25-Related Intellectual Disability Mbd5 Haploinsufficiency Mccallum Macadam Johnston Syndrome Mccune-Albright Syndrome Mcdonough Syndrome Mcdowall Syndrome Mcgillivray Syndrome Mckusick-Kaufman Syndrome Mcleod Syndrome Mcpherson Clemens Syndrome Mcpherson Robertson Cammarano Syndrome Mdp Syndrome Meacham Syndrome Meacham Winn Culler Syndrome Measles Meckel Syndrome 12 Meckel Syndrome 13 Meckel Syndrome, Type 1 Meckel Syndrome, Type 10 Meckel Syndrome, Type 11 Meckel Syndrome, Type 2 Meckel Syndrome, Type 3 Meckel Syndrome, Type 4 Meckel Syndrome, Type 5 Meckel Syndrome, Type 6 Meckel Syndrome, Type 7 Meckel Syndrome, Type 8 Meckel Syndrome, Type 9 Meconium Aspiration Syndrome Meconium Ileus Med13l Haploinsufficiency Syndrome Med23 Medeira-Dennis-Donnai Syndrome Medial Medullary Syndrome Median Arcuate Ligament Syndrome Median Cleft Lip/mandibule Median Cleft of the Upper Lip and Maxilla Mediastinal Endodermal Sinus Tumors Medich Giant Platelet Syndrome Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency Medrano Roldan Syndrome Medullary Cystic Kidney Disease 1 Medullary Cystic Kidney Disease 2 Medullary Sponge Kidney Medulloblastoma Medulloepithelioma Megacystis-Megaureter Syndrome Megaepiphyseal Dwarfism Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13) Megakaryocytic Leukemia Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a Megalencephaly Megalencephaly, Autosomal Dominant Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 Megaloblastic Anemia Megaloblastic Anemia 1 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency Megalocornea-Intellectual Disability Syndrome Megalocornea-Mental Retardation Syndrome Megalocornea - Spherophakia - Secondary Glaucoma Megalocytic Interstitial Nephritis Megarbane-Jalkh Syndrome Megarbane Syndrome Mehes Syndrome Mehmo Syndrome Mehta Lewis Patton Syndrome Meier-Gorlin Syndrome 1 Meier-Gorlin Syndrome 2 Meier-Gorlin Syndrome 3 Meier-Gorlin Syndrome 4 Meier-Gorlin Syndrome 5 Meier-Gorlin Syndrome 6 Meier-Gorlin Syndrome 7 Meier-Gorlin Syndrome 8 Meinecke Syndrome Melanocytic Lesions of Cns Melanocytic Nevus Syndrome, Congenital Melanoma-Associated Retinopathy Melanoma-Astrocytoma Syndrome Melanoma, Cutaneous Malignant 1 Melanoma, Cutaneous Malignant 10 Melanoma, Cutaneous Malignant 2 Melanoma, Cutaneous Malignant 3 Melanoma, Cutaneous Malignant 4 Melanoma, Cutaneous Malignant 5 Melanoma, Cutaneous Malignant 6 Melanoma, Cutaneous Malignant 7 Melanoma, Cutaneous Malignant 8 Melanoma, Cutaneous Malignant 9 Melanoma, Malignant Familial Intraocular Melanoma of Soft Tissue Melanoma, Uveal Melanoma, Uveal 1 Melanoma, Uveal 2 Melanosis, Neurocutaneous Melhem Fahl Syndrome Melioidosis Melkersson-Rosenthal Syndrome Melnick-Needles Syndrome Melorheostosis Melorheostosis, Isolated Melorheostosis with Osteopoikilosis Membranoproliferative Glomerulonephritis Membranous Cranial Ossification, Delayed Membranous Nephropathy Mend Syndrome Meniere Disease Meningeal Melanocytoma Meningioma, Familial Meningioma, Radiation-Induced Meningitis Meningocele Meningococcal Infection Meningococcal Meningitis Meningococcemia Meningoencephalocele Menkes Disease Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia Mental Retardation and Psoriasis Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18 Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Dominant 20 Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Dominant 27 Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Dominant 44 Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48 Mental Retardation, Autosomal Dominant 49 Mental Retardation, Autosomal Dominant 50 Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52 Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54 Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 15 Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48 Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Recessive 56 Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58 Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Recessive 61 Mental Retardation, Buenos Aires Type Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block Mental Retardation Macrocephaly Coarse Facies Hypotonia Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies Mental Retardation Short Stature Microcephaly Eye Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Mental Retardation Smith Fineman Myers Type Mental Retardation Syndrome, Belgian Type Mental Retardation Syndrome, Mietens-Weber Type Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome Mental Retardation with Language Impairment and with or Without Autistic Features Mental Retardation with Optic Atrophy, Deafness, and Seizures Mental Retardation with Spastic Paraplegia Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis Mental Retardation, X-Linked 100 Mental Retardation, X-Linked 101 Mental Retardation, X-Linked 102 Mental Retardation, X-Linked 103 Mental Retardation, X-Linked 104 Mental Retardation, X-Linked 105 Mental Retardation, X-Linked 106 Mental Retardation, X-Linked 12 Mental Retardation, X-Linked 21 Mental Retardation, X-Linked 23 Mental Retardation, X-Linked 42 Mental Retardation, X-Linked 49 Mental Retardation, X-Linked 50 Mental Retardation, X-Linked 53 Mental Retardation, X-Linked 61 Mental Retardation, X-Linked 73 Mental Retardation, X-Linked 92 Mental Retardation, X-Linked 96 Mental Retardation, X-Linked 97 Mental Retardation, X-Linked 98 Mental Retardation, X-Linked 99 Mental Retardation, X-Linked 99, Syndromic, Female-Restricted Mental Retardation, X-Linked, Associated with Fragile Site Fraxe Mental Retardation, X-Linked, Syndromic 13 Mental Retardation, X-Linked, Syndromic 17 Mental Retardation, X-Linked, Syndromic 32 Mental Retardation, X-Linked, Syndromic 33 Mental Retardation, X-Linked, Syndromic 34 Mental Retardation, X-Linked, Syndromic, 35 Mental Retardation, X-Linked, Syndromic 9 Mental Retardation, X-Linked, Syndromic, Cabezas Type Mental Retardation, X-Linked, Syndromic, Christianson Type Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type Mental Retardation, X-Linked, Syndromic, Hedera Type Mental Retardation, X-Linked, Syndromic, Martin-Probst Type Mental Retardation, X-Linked, Syndromic, Nascimento Type Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type Mental Retardation, X-Linked, Syndromic, Turner Type Mental Retardation, X-Linked, Syndromic, Wu Type Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance Mental Retardation, X-Linked, with Craniofacial Dysmorphism Mental Retardation, X-Linked, with Panhypopituitarism Meralgia Paraesthetica, Familial Meralgia Paresthetica Mercaptolactate-Cysteine Disulfiduria Mercury Poisoning Merkel Cell Carcinoma Merlob Grunebaum Reisner Syndrome Mesangial Proliferative Glomerulonephritis Mesangioproliferative Glomerulopathy Mesenchymoma Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis Mesocardia Mesomelia Mesomelia-Synostoses Syndrome Mesomelic Dwarfism Cleft Palate Camptodactyly Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type Mesomelic Dysplasia, Kantaputra Type Mesomelic Dysplasia, Savarirayan Type Mesomelic Dysplasia Skin Dimples Mesomelic Limb Shortening and Bowing Mesothelioma, Malignant Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration Metacarpal 4-5 Fusion Metachondromatosis Metachromatic Leukodystrophy Metachromatic Leukodystrophy, Adult Form Metachromatic Leukodystrophy Due to Saposin B Deficiency Metachromatic Leukodystrophy, Juvenile Form Metachromatic Leukodystrophy, Late Infantile Form Metagonimiasis Metaphyseal Acroscyphodysplasia Metaphyseal Anadysplasia Metaphyseal Anadysplasia 2 Metaphyseal Chondrodysplasia, Jansen Type Metaphyseal Chondrodysplasia, Kaitila Type Metaphyseal Chondrodysplasia, Others Metaphyseal Chondrodysplasia, Schmid Type Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness Metaphyseal Dysplasia, Braun-Tinschert Type Metaphyseal Dysplasia Maxillary Hypoplasia Brachydactyly Metaphyseal Dysplasia, Spahr Type Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly Metaphyseal Dysplasia Without Hypotrichosis Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth Metastatic Insulinoma Metastatic Squamous Neck Cancer with Occult Primary Metatarsus Adductus Metatropic Dysplasia Methanol Poisoning Methemoglobinemia Methemoglobinemia, Beta-Globin Type Methemoglobinemia Due to Deficiency of Methemoglobin Reductase Methemoglobinemia Type Iv Methimazole Antenatal Exposure Methionine Adenosyltransferase Deficiency Methionine Adenosyltransferase I/iii Deficiency Methotrexate-Associated Lymphoproliferative Disorders Methotrexate Toxicity or Dose Selection Methylcobalamin Deficiency, Cbl E Complementation Type Methylmalonate Semialdehyde Dehydrogenase Deficiency Methylmalonic Acidemia and Homocysteinemia, Cblx Type Methylmalonic Acidemia with Homocystinuria Methylmalonic Acidemia with Homocystinuria Type Cblj Methylmalonic Aciduria and Homocystinuria, Cblc Type Methylmalonic Aciduria and Homocystinuria, Cbld Type Methylmalonic Aciduria and Homocystinuria, Cblf Type Methylmalonic Aciduria and Homocystinuria, Cblj Type Methylmalonic Aciduria, Cbla Type Methylmalonic Aciduria, Cblb Type Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency Methylmalonic Aciduria Microcephaly Cataract Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect Methylmalonyl-Coa Epimerase Deficiency Methylmalonyl-Coenzyme a Mutase Deficiency Mevalonic Aciduria Michels Caskey Syndrome Microbrachycephaly Ptosis Cleft Lip Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type Microcephalic Osteodysplastic Primordial Dwarfism, Type I Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome Microcephalic Primordial Dwarfism, Montreal Type Microcephalic Primordial Dwarfism, Toriello Type Microcephaly Microcephaly 10, Primary, Autosomal Recessive Microcephaly 11, Primary, Autosomal Recessive Microcephaly 12, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive Microcephaly 15, Primary, Autosomal Recessive Microcephaly 16, Primary, Autosomal Recessive Microcephaly 17, Primary, Autosomal Recessive Microcephaly 18, Primary, Autosomal Dominant Microcephaly 19, Primary, Autosomal Recessive Microcephaly 1, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive Microcephaly 4, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive Microcephaly 6, Primary, Autosomal Recessive Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive Microcephaly 9, Primary, Autosomal Recessive Microcephaly, Amish Type Microcephaly and Chorioretinopathy 1 Microcephaly and Chorioretinopathy 2 Microcephaly and Chorioretinopathy 3 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 Microcephaly, Autosomal Dominant Microcephaly Brain Defect Spasticity Hypernatremia Microcephaly-Capillary Malformation Syndrome Microcephaly-Cardiomyopathy Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome Microcephaly Chorioretinopathy Recessive Form Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate Microcephaly-Deafness Syndrome Microcephaly-Digital Anomalies-Intellectual Disability Syndrome Microcephaly, Epilepsy, and Diabetes Syndrome Microcephaly Hypergonadotropic Hypogonadism Short Stature Microcephaly-Intellectual Disability-Phalangeal and Neurological Anomalies Syndrome Microcephaly Microcornea Syndrome Seemanova Type Microcephaly Micropenis Convulsions Microcephaly Microphthalmos Blindness Microcephaly Nonsyndromal Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome Microcephaly Pontocerebellar Hypoplasia Dyskinesia Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy Microcephaly, Seizures, and Developmental Delay Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome Microcephaly with Cervical Spine Fusion Anomalies Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia Microcephaly with Chorioretinopathy, Autosomal Dominant Form Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation Microcephaly with Spastic Quadriplegia Microcoria, Congenital Microcornea Corectopia Macular Hypoplasia Microcornea, Glaucoma, and Absent Frontal Sinuses Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus Microcornea Posterior Megalolenticonus Persistent Fetal Vasculature Coloboma Microcystic Lymphatic Malformation Microdontia Hypodontia Short Stature Microform Holoprosencephaly Microgastria Limb Reduction Defect Microgastria-Limb Reduction Defects Association Microhydranencephaly Microlissencephaly Microlissencephaly-Micromelia Syndrome Microphthalmia Microphthalmia Associated with Colobomatous Cyst Microphthalmia/coloboma and Skeletal Dysplasia Syndrome Microphthalmia, Isolated 1 Microphthalmia, Isolated 2 Microphthalmia, Isolated 3 Microphthalmia, Isolated 4 Microphthalmia, Isolated 5 Microphthalmia, Isolated 6 Microphthalmia, Isolated 7 Microphthalmia, Isolated 8 Microphthalmia, Isolated, with Cataract 1 Microphthalmia Microtia Fetal Akinesia Microphthalmia, Syndromic 1 Microphthalmia, Syndromic 10 Microphthalmia, Syndromic 11 Microphthalmia, Syndromic 12 Microphthalmia, Syndromic 13 Microphthalmia, Syndromic 2 Microphthalmia, Syndromic 3 Microphthalmia, Syndromic 4 Microphthalmia, Syndromic 5 Microphthalmia, Syndromic 6 Microphthalmia, Syndromic 8 Microphthalmia, Syndromic 9 Microphthalmia with Limb Anomalies Microscopic Polyangiitis Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma Microspherophakia-Metaphyseal Dysplasia Microspherophakia with Hernia Microsporidiosis Microtia Microtia-Anotia Microtia, Hearing Impairment, and Cleft Palate Microtia with Meatal Atresia and Conductive Deafness Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma Microtriplication 11q24.1 Micturation-Induced Seizures Mid-Dermal Elastolysis Middle Ear Neuroendocrine Tumor Midline Cervical Cleft Midline Cleft of Lower Lip Midline Interhemispheric Variant of Holoprosencephaly Midphalangeal Hair Migraine, Familial Hemiplegic, 1 Migraine, Familial Hemiplegic, 2 Migraine, Familial Hemiplegic, 3 Migraine with Brainstem Aura Mild Canavan Disease Mild Hemophilia a Mild Hemophilia B Mild Hyperphenylalaninemia Mild Phenylketonuria Miller-Dieker Lissencephaly Syndrome Miller Fisher Syndrome Mills Syndrome Milner Khallouf Gibson Syndrome Minicore Myopathy, Antenatal Onset, with Arthrogryposis Minicore Myopathy with External Ophthalmoplegia Minimal Pigment Oculocutaneous Albinism Type 1 Mirage Syndrome Mirizzi Syndrome Mirror Movements 1 Mirror Movements 2 Mirror Movements 3 Mirror Polydactyly Segmentation and Limbs Defects Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome Mismatch Repair Cancer Syndrome Misophonia Mitochondrial Complex I Deficiency Mitochondrial Complex I Deficiency Due to Acad9 Deficiency Mitochondrial Complex Ii Deficiency Mitochondrial Complex Iii Deficiency Mitochondrial Complex Iii Deficiency, Nuclear Type 1 Mitochondrial Complex Iv Deficiency Mitochondrial Complex V Deficiency Mitochondrial Complex V Deficiency, Nuclear Type 2 Mitochondrial Disease with Severe Hypotonia, Lactic Acidaemia and Hyperammonemia Mitochondrial Dna-Associated Leigh Syndrome Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 5 Mitochondrial Dna Depletion Syndrome 6 Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 9 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form Mitochondrial Genetic Disorders Mitochondrial Membrane Protein-Associated Neurodegeneration Mitochondrial Myopathy Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes Mitochondrial Myopathy, Infantile, Transient Mitochondrial Myopathy, Lethal, Infantile Mitochondrial Myopathy with Diabetes Mitochondrial Myopathy with Lactic Acidosis Mitochondrial Neurogastrointestinal Encephalomyopathy Mitochondrial Neurogastrointestinal Encephalopathy Disease Mitochondrial Non-Syndromic Sensorineural Deafness Mitochondrial Phosphate Carrier Deficiency Mitochondrial Pyruvate Carrier Deficiency Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency Mitochondrial Trifunctional Protein Deficiency Mitral Atresia Mitral Valve Agenesis Mitral Valve Prolapse 1 Mitral Valve Prolapse 2 Mitral Valve Prolapse 3 Mitral Valve Prolapse, Familial, Autosomal Dominant Mitral Valve Prolapse, Familial, X-Linked Miura Syndrome Mixed Connective Tissue Disease Mixed Cryoglobulinemia Type Iii Mixed Cystic Lymphatic Malformation Mixed Germ Cell Tumor Mixed Germ Cell Tumor of Central Nervous System Mixed Gonadal Dysgenesis Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations Mixed-Type Autoimmune Hemolytic Anemia Miyoshi Muscular Dystrophy 1 Miyoshi Muscular Dystrophy 2 Miyoshi Muscular Dystrophy 3 Mn1 Moderate and Severe Traumatic Brain Injury Moderately-Differentiated Thymic Neuroendocrine Carcinoma Moderately Severe Hemophilia a Moderately Severe Hemophilia B Moebius Axonal Neuropathy Hypogonadism Moebius Syndrome Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome Mohr Syndrome Mohr-Tranebjaerg Syndrome Mollaret Meningitis Moloney Syndrome Molybdenum Cofactor Deficiency Molybdenum Cofactor Deficiency, Complementation Group a Molybdenum Cofactor Deficiency, Complementation Group B Molybdenum Cofactor Deficiency, Complementation Group C Momo Syndrome Mondini Dysplasia Mondor Disease Monilethrix Monkeypox Monocarboxylate Transporter 1 Deficiency Monoclonal Gammopathy of Uncertain Significance Monoclonal Mast Cell Activation Syndrome Monogenic Diabetes Mononeuritis Multiplex Monosomy 13q34 Monosomy 21 Monosomy 22 Monosomy 7 of Bone Marrow Monosomy 9q22.3 Monostotic Fibrous Dysplasia Montefiore Syndrome Morbid Obesity and Spermatogenic Failure Morel's Ear Morgellons Morning Glory Syndrome Morse-Rawnsley-Sargent Syndrome Morvan's Fibrillary Chorea Mosaic Genome-Wide Paternal Uniparental Disomy Mosaic Monosomy 18 Mosaic Monosomy 22 Mosaic Monosomy X Mosaic Trisomy 1 Mosaic Trisomy 12 Mosaic Trisomy 13 Mosaic Trisomy 14 Mosaic Trisomy 15 Mosaic Trisomy 17 Mosaic Trisomy 22 Mosaic Trisomy 3 Mosaic Trisomy 4 Mosaic Trisomy 5 Mosaic Trisomy 6 Mosaic Trisomy 7 Mosaic Trisomy 8 Mosaic Trisomy 9 Mosaic Variegated Aneuploidy Syndrome Mosaic Variegated Aneuploidy Syndrome 1 Mosaic Variegated Aneuploidy Syndrome 2 Mosaic Variegated Aneuploidy Syndrome 3 Motor Neuro-Ophthalmic Disorders Motor Neuropathy, Peripheral, with Dysautonomia Motor Sensory Neuropathy Type 1 Aplasia Cutis Congenita Mounier-Kuhn Syndrome Mousa Al Din Al Nassar Syndrome Mowat-Wilson Syndrome Mowat-Wilson Syndrome Due to a Zeb2 Point Mutation Mowat-Wilson Syndrome Due to Monosomy 2q22 Moyamoya Disease 1 Moyamoya Disease 2 Moyamoya Disease 3 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism Moyamoya Disease 5 Moyamoya Disease 6 with Achalasia Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome Mseleni Joint Disease Mthfr Gene Variant Mucinous Adenocarcinoma of Ovary Mucinous Adenocarcinoma of the Appendix Mucinous Cystadenocarcinoma of the Pancreas Mucinous Tubular and Spindle Renal Cell Carcinoma Muckle-Wells Syndrome Mucoepidermoid Carcinoma Mucoepithelial Dysplasia, Hereditary Mucolipidosis Ii Alpha/beta Mucolipidosis Iii Alpha/beta Mucolipidosis Iii Gamma Mucolipidosis Iv Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv Mucopolysaccharidosis-Plus Syndrome Mucopolysaccharidosis Type 2, Attenuated Form Mucopolysaccharidosis Type 2, Severe Form Mucopolysaccharidosis Type 6, Rapidly Progressing Mucopolysaccharidosis Type 6, Slowly Progressing Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb Mucopolysaccharidosis, Type Ix Mucopolysaccharidosis Type Vi Mucopolysaccharidosis, Type Vii Muenke Syndrome Muir-Torre Syndrome Mulchandani-Bhoj-Conlin Syndrome Mulibrey Nanism Muller Barth Menger Syndrome Mullerian Aplasia Mullerian Aplasia and Hyperandrogenism Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies Multicentric Carpotarsal Osteolysis Syndrome Multicentric Castleman Disease Multicentric Osteolysis Nephropathy Multicentric Osteolysis, Nodulosis, and Arthropathy Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum Multicentric Reticulohistiocytosis Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism Multicystic Dysplastic Kidney Multifocal Atrial Tachycardia Multifocal Choroiditis Multifocal Lymphangioendotheliomatosis with Thrombocytopenia Multifocal Motor Neuropathy Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus Multilocular Cystic Renal Neoplasm of Low Malignant Potential Multiloculated Renal Cyst Multiminicore Disease Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly Multiple Acyl-Coa Dehydrogenase Deficiency Multiple Benign Circumferential Skin Creases on Limbs Multiple Carboxylase Deficiency Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull Multiple Enchondromatosis, Maffucci Type Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia Type 1 and Type 2 Multiple Endocrine Neoplasia, Type I Multiple Endocrine Neoplasia, Type Iia Multiple Endocrine Neoplasia, Type Iib Multiple Endocrine Neoplasia, Type Iv Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly Multiple Epiphyseal Dysplasia, Recessive Multiple Epiphyseal Dysplasia with Robin Phenotype Multiple Familial Trichoepithelioma Multiple Fibroadenomas of the Breast Multiple Fibrofolliculoma Familial Multiple Joint Dislocations Metaphyseal Dysplasia Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects Multiple Mitochondrial Dysfunctions Syndrome Multiple Mitochondrial Dysfunctions Syndrome 1 Multiple Mitochondrial Dysfunctions Syndrome 2 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia Multiple Mitochondrial Dysfunctions Syndrome 3 Multiple Mitochondrial Dysfunctions Syndrome 4 Multiple Mitochondrial Dysfunctions Syndrome 5 Multiple Paragangliomas Associated with Polycythemia Multiple Pterygium Syndrome, Escobar Variant Multiple Pterygium Syndrome, Lethal Type Multiple Pterygium Syndrome, X-Linked Multiple Respiratory Chain Enzyme Deficiencies Multiple Sclerosis Multiple Sclerosis 2 Multiple Sclerosis 3 Multiple Sclerosis 4 Multiple Sclerosis 5 Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome Multiple Self-Healing Squamous Epithelioma Multiple Sulfatase Deficiency Multiple Synostoses Syndrome Multiple Synostoses Syndrome 1 Multiple Synostoses Syndrome 2 Multiple Synostoses Syndrome 3 Multiple System Atrophy 1 Multiple System Atrophy, Cerebellar Type Multiple System Atrophy, Parkinsonian Type Multisystemic Smooth Muscle Dysfunction Syndrome Mumps Munchausen by Proxy Mungan Syndrome Murcs Association Muscle Eye Brain Disease Muscle Hypertrophy Muscular Atrophy Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus Muscular Dystrophy Muscular Dystrophy, Becker Type Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Davignon-Chauveau Type Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency Muscular Dystrophy, Congenital, Lmna-Related Muscular Dystrophy, Congenital, Megaconial Type Muscular Dystrophy, Congenital Merosin-Deficient, 1a Muscular Dystrophy, Congenital, Merosin-Positive Muscular Dystrophy, Congenital, Producing Arthrogryposis Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism Muscular Dystrophy, Duchenne Type Muscular Dystrophy-Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 1c Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 1h Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy Limb Girdle Type 2a, Erb Type Muscular Dystrophy, Limb-Girdle, Type 2b Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g Muscular Dystrophy, Limb-Girdle, Type 2h Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r Muscular Dystrophy, Limb-Girdle, Type 2w Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2z Muscular Dystrophy White Matter Spongiosis Muscular Fibrosis Multifocal Obstructed Vessels Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome Muscular Phosphorylase Kinase Deficiency Muscular Pseudohypertrophy-Hypothyroidism Syndrome Musculocontractural Ehlers-Danlos Syndrome Mutagen Sensitivity Mutyh-Associated Polyposis Myalgia-Eosinophilia Syndrome Associated with Tryptophan Myasthenia Gravis Myasthenia Gravis Congenital Myasthenia, Limb-Girdle, Autoimmune Myasthenic Syndrome, Congenital, 10 Myasthenic Syndrome, Congenital, 12 Myasthenic Syndrome, Congenital, 13 Myasthenic Syndrome, Congenital, 14 Myasthenic Syndrome, Congenital, 15 Myasthenic Syndrome, Congenital, 16 Myasthenic Syndrome, Congenital, 17 Myasthenic Syndrome, Congenital, 18 Myasthenic Syndrome, Congenital, 19 Myasthenic Syndrome, Congenital, 1a, Slow-Channel Myasthenic Syndrome, Congenital, 20, Presynaptic Myasthenic Syndrome, Congenital, 21, Presynaptic Myasthenic Syndrome, Congenital, 22 Myasthenic Syndrome, Congenital, 2a, Slow-Channel Myasthenic Syndrome, Congenital, 3a, Slow-Channel Myasthenic Syndrome, Congenital, 4a, Slow-Channel Myasthenic Syndrome, Congenital, 5 Myasthenic Syndrome, Congenital, 6, Presynaptic Myasthenic Syndrome, Congenital, 7, Presynaptic Myasthenic Syndrome, Congenital, 8 Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome Mycetoma Mycobacterium Abscessus Mycobacterium Chelonae Mycobacterium Fortuitum Mycobacterium Gordonae Mycobacterium Kansasii Mycobacterium Malmoense Mycobacterium Marinum Mycobacterium Tuberculosis 1 Mycobacterium Tuberculosis 2 Mycobacterium Tuberculosis 3 Mycobacterium Tuberculosis, Susceptibility to Infection by Mycobacterium Xenopi Mycophenolate Mofetil Embryopathy Mycoplasma Encephalitis Mycoplasmal Pneumonia Mycosis Fungoides Myd88 Deficiency Myelitis Myelocystocele Myelocytic Leukemia-Like Syndrome, Familial, Chronic Myelodysplastic Myeloproliferative Cancer Myelodysplastic Syndrome Myelofibrosis Myeloid Leukemia Myeloid/lymphoid Neoplasm Associated with Pdgfra Rearrangement Myeloid/lymphoid Neoplasm Associated with Pdgfrb Rearrangement Myeloid Proliferations Related to Down Syndrome Myeloid Sarcoma Myeloid Splenomegaly Myeloma, Multiple Myelomeningocele Myelopathy, Htlv-1-Associated Myeloperoxidase Deficiency Myeloproliferative Disease, Autosomal Recessive Myeloproliferative Disorder, Chronic, with Eosinophilia Myeloproliferative/lymphoproliferative Neoplasms, Familial Myeloproliferative Neoplasm Myeloproliferative Syndrome, Transient Myh9 Related Thrombocytopenia Myhre Syndrome Myo5b-Related Progressive Familial Intrahepatic Cholestasis Myocarditis Myoclonic-Astastic Epilepsy Myoclonic Astatic Epilepsy Myoclonic Cerebellar Dyssynergia Myoclonic Epilepsy Associated with Ragged-Red Fibers Myoclonic Epilepsy, Familial Infantile Myoclonic Epilepsy in Non-Progressive Encephalopathies Myoclonic Epilepsy, Juvenile 3 Myoclonic Epilepsy, Juvenile 4 Myoclonic Epilepsy of Infancy Myoclonic Epilepsy of Lafora Myoclonic Epilepsy of Unverricht and Lundborg Myoclonus and Ataxia Myoclonus, Cerebellar Ataxia, and Deafness Myoclonus Epilepsy Myoclonus Epilepsy Partial Seizure Myoclonus, Familial Cortical Myoepithelioma Myofibrillar Lysis Myofibrillar Myopathy Myofibromatosis, Infantile, 1 Myofibromatosis, Infantile, 2 Myoglobinuria Myoglobinuria, Acute Recurrent, Autosomal Recessive Myoglobinuria, Autosomal Dominant Myoglobinuria Dominant Form Myoglobinuria, Recurrent Myokymia with Neonatal Epilepsy Myopathic Intestinal Pseudoobstruction Myopathy Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset Myopathy, Centronuclear, 1 Myopathy, Centronuclear, 2 Myopathy, Centronuclear, 3 Myopathy, Centronuclear, 4 Myopathy, Centronuclear, 5 Myopathy, Centronuclear, X-Linked Myopathy, Congenital Myopathy, Congenital, Compton-North Myopathy, Distal, 1 Myopathy, Distal, 3 Myopathy, Distal, 4 Myopathy, Distal, 5 Myopathy, Distal, Infantile-Onset Myopathy, Distal, Tateyama Type Myopathy, Distal, with Anterior Tibial Onset Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant Myopathy Due to Malate-Aspartate Shuttle Defect Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome Myopathy, Isolated Mitochondrial, Autosomal Dominant Myopathy, Lactic Acidosis, and Sideroblastic Anemia Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 Myopathy Mitochondrial Cataract Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay Myopathy, Myofibrillar, 1 Myopathy, Myofibrillar, 2 Myopathy, Myofibrillar, 3 Myopathy, Myofibrillar, 4 Myopathy, Myofibrillar, 5 Myopathy, Myofibrillar, 6 Myopathy, Myofibrillar, 7 Myopathy, Myofibrillar, 8 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related Myopathy, Myosin Storage, Autosomal Dominant Myopathy, Myosin Storage, Autosomal Recessive Myopathy, Proximal, and Ophthalmoplegia Myopathy, Scapulohumeroperoneal Myopathy, Spheroid Body Myopathy, Tubular Aggregate, 1 Myopathy, Tubular Aggregate, 2 Myopathy, Vacuolar, with Casq1 Aggregates Myopathy with Extrapyramidal Signs Myopathy with Hexagonally Cross-Linked Tubular Arrays Myopathy with Lactic Acidosis, Hereditary Myopathy, X-Linked, with Excessive Autophagy Myopathy, X-Linked, with Postural Muscle Atrophy Myopericytoma Myopia Myopia 10 Myopia 11, Autosomal Dominant Myopia 12, Autosomal Dominant Myopia 14 Myopia 15, Autosomal Dominant Myopia 16, Autosomal Dominant Myopia 17, Autosomal Dominant Myopia 18, Autosomal Recessive Myopia 19, Autosomal Dominant Myopia 20, Autosomal Dominant Myopia 21, Autosomal Dominant Myopia 22, Autosomal Dominant Myopia 23, Autosomal Recessive Myopia 24, Autosomal Dominant Myopia 25, Autosomal Dominant Myopia 2, Autosomal Dominant Myopia 3, Autosomal Dominant Myopia 5, Autosomal Dominant Myopia 6 Myopia 7 Myopia 8 Myopia 9 Myopic Macular Degeneration Myosclerosis, Autosomal Recessive Myosinopathies Myosin Storage Myopathy Myositis Myospherulosis Myostatin-Related Muscle Hypertrophy Myotonia Atrophica Myotonia Congenita Myotonia Congenita, Autosomal Dominant Myotonia Congenita, Autosomal Recessive Myotonia, Potassium-Aggravated Myotonia with Skeletal Abnormalities and Mental Retardation Myotonic Dystrophy Myotonic Dystrophy 1 Myotonic Dystrophy 2 Myotubular Myopathy with Abnormal Genital Development Myxofibrosarcoma Myxoid Liposarcoma Myxoma, Intracardiac Myxopapillary Ependymoma Myxozoa Nablus Mask-Like Facial Syndrome N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii N-Acetylglutamate Synthase Deficiency N Acetyltransferase Deficiency Naegeli-Franceschetti-Jadassohn Syndrome Nail Disease Nail Disorder, Nonsyndromic Congenital, 1 Nail Disorder, Nonsyndromic Congenital, 10 Nail Disorder, Nonsyndromic Congenital, 2 Nail Disorder, Nonsyndromic Congenital, 3 Nail Disorder, Nonsyndromic Congenital, 4 Nail Disorder, Nonsyndromic Congenital, 5 Nail Disorder, Nonsyndromic Congenital, 6 Nail Disorder, Nonsyndromic Congenital, 7 Nail Disorder, Nonsyndromic Congenital, 8 Nail Disorder, Nonsyndromic Congenital, 9 Nail Dysplasia, Isolated Congenital Nail-Patella-Like Renal Disease Nail-Patella Syndrome Nakajo Syndrome Nance-Horan Syndrome Narcolepsy Narcolepsy 1 Narcolepsy 2 Narcolepsy 3 Narcolepsy 4 Narcolepsy 5 Narcolepsy 6 Narcolepsy 7 Narrow Oral Fissure Short Stature Cone Shaped Epiphyses Nasal Cavity Cancer, Childhood Nasal Dorsum Fistula/cyst Nasal Encephalocele Nasal Ganglioglioma Nasal Glial Heterotopia Nasal Polyposis, Familial Nasodigitoacoustic Syndrome Nasolacrimal Duct Cyst Nasopalpebral Lipoma-Coloboma Syndrome Nasopharyngeal Cancer, Childhood Nasopharyngeal Carcinoma Nasopharyngeal Carcinoma 2 Nasopharyngeal Carcinoma 3 Nasopharyngeal Teratoma Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus Nathalie Syndrome Native American Myopathy Natural Killer Cell Leukemia Navicular Bone, Accessory Naxos Disease Nebulin-Related Early-Onset Distal Myopathy Necrobiosis Lipoidica Necrobiotic Xanthogranuloma Necrotizing Autoimmune Myopathy Necrotizing Fasciitis Necrotizing Soft Tissue Infection Necrotizing Ulcerative Gingivitis Negative Rheumatoid Factor Polyarthritis Neisseria Meningitidis Infection Nelson Syndrome Nemaline Myopathy Nemaline Myopathy 1 Nemaline Myopathy 10 Nemaline Myopathy 11, Autosomal Recessive Nemaline Myopathy 2 Nemaline Myopathy 3 Nemaline Myopathy 4 Nemaline Myopathy 5 Nemaline Myopathy 6 Nemaline Myopathy 7 Nemaline Myopathy 8 Nemaline Myopathy 9 Neonatal Adrenoleukodystrophy Neonatal Alloimmune Neutropenia Neonatal Antiphospholipid Syndrome Neonatal Autoimmune Hemolytic Anemia Neonatal Brainstem Dysfunction Neonatal Dermatomyositis Neonatal Diabetes Mellitus Neonatal Glycine Encephalopathy Neonatal Herpes Neonatal Hypothyroidism Neonatal Hypoxic and Ischemic Brain Injury Neonatal Inflammatory Skin and Bowel Disease Neonatal Lupus Erythematosus Neonatal Marfan Syndrome Neonatal Meningitis Neonatal Myasthenia Gravis Neonatal Ovarian Cyst Neonatal Scleroderma Neonatal Stroke Neonatal Systemic Lupus Erythematosus Neovascular Glaucoma Nephrocalcinosis Nephrogenic Syndrome of Inappropriate Antidiuresis Nephrogenic Systemic Fibrosis Nephronophthisis Nephronophthisis 1 Nephronophthisis 11 Nephronophthisis 12 Nephronophthisis 13 Nephronophthisis 14 Nephronophthisis 15 Nephronophthisis 16 Nephronophthisis 18 Nephronophthisis 19 Nephronophthisis 2 Nephronophthisis 20 Nephronophthisis 3 Nephronophthisis 4 Nephronophthisis 7 Nephronophthisis 9 Nephronophthisis Familial Adult Spastic Quadriparesis Nephropathy, Deafness, and Hyperparathyroidism Nephropathy Familial with Hyperuricemia Nephropathy with Pretibial Epidermolysis Bullosa and Deafness Nephrosclerosis Nephrosis with Deafness and Urinary Tract and Digital Malformations Nephrotic Syndrome Nephrotic Syndrome 14 Nephrotic Syndrome 15 Nephrotic Syndrome 16 Nephrotic Syndrome, Idiopathic, Steroid-Resistant Nephrotic Syndrome Ocular Anomalies Nephrotic Syndrome, Type 1 Nephrotic Syndrome, Type 10 Nephrotic Syndrome, Type 11 Nephrotic Syndrome, Type 12 Nephrotic Syndrome, Type 13 Nephrotic Syndrome, Type 2 Nephrotic Syndrome, Type 3 Nephrotic Syndrome, Type 4 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities Nephrotic Syndrome, Type 6 Nephrotic Syndrome, Type 7 Nephrotic Syndrome, Type 8 Nephrotic Syndrome, Type 9 Nestor-Guillermo Progeria Syndrome Netherton Syndrome Neuhauser Daly Magnelli Syndrome Neuhauser Eichner Opitz Syndrome Neu-Laxova Syndrome 1 Neural Crest Tumor Neural Tube Defects Neuraminidase Deficiency Neurenteric Cyst Neurilemmoma Neurilemmomatosis Neuroaxonal Dystrophy Renal Tubular Acidosis Neuroblastoma Neuroblastoma 2 Neuroblastoma 3 Neuroblastoma 4 Neuroblastoma 5 Neuroblastoma 6 Neuroblastoma 7 Neurodegeneration Due to Cerebral Folate Transport Deficiency Neurodegeneration with Brain Iron Accumulation Neurodegeneration with Brain Iron Accumulation 1 Neurodegeneration with Brain Iron Accumulation 2a Neurodegeneration with Brain Iron Accumulation 2b Neurodegeneration with Brain Iron Accumulation 3 Neurodegeneration with Brain Iron Accumulation 4 Neurodegeneration with Brain Iron Accumulation 5 Neurodegeneration with Brain Iron Accumulation 6 Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion Neurodevelopmental Disorder with or Without Anomalies of the Brain, Eye, or Heart Neuroectodermal Endocrine Syndrome Neuroendocrine Carcinoma of the Cervix Neuroendocrine Cell Hyperplasia of Infancy Neuroendocrine Tumor Neuroendocrine Tumor of the Anal Canal Neuroendocrine Tumor of the Appendix Neuroendocrine Tumor of the Colon Neurofaciodigitorenal Syndrome Neurofibroma Neurofibromatosis-Noonan Syndrome Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome Neurofibromatosis, Type I Neurofibromatosis, Type Ii Neurofibromatosis, Type Iv, of Riccardi Neurofibrosarcoma Neurogenic Hypertension Neurogenic Palpebral Tumor Neurogenic Thoracic Outlet Syndrome Neuroleptic Malignant Syndrome Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset Neuroma Biliary Tract Neuromyelitis Optica Neuromyelitis Optica Spectrum Disorder Neuromyotonia and Axonal Neuropathy, Autosomal Recessive Neuronal Ceroid Lipofuscinosis Neuronal Interstitial Dysplasia Neuronal Intranuclear Inclusion Disease Neuronopathy, Distal Hereditary Motor, Type I Neuronopathy, Distal Hereditary Motor, Type Iia Neuronopathy, Distal Hereditary Motor, Type Iib Neuronopathy, Distal Hereditary Motor, Type Iic Neuronopathy, Distal Hereditary Motor, Type Iid Neuronopathy, Distal Hereditary Motor, Type Ix Neuronopathy, Distal Hereditary Motor, Type Va Neuronopathy, Distal Hereditary Motor, Type Vb Neuronopathy, Distal Hereditary Motor, Type Viia Neuronopathy, Distal Hereditary Motor, Type Viib Neuronopathy, Distal Hereditary Motor, Type Viii Neuropathy Neuropathy, Ataxia, and Retinitis Pigmentosa Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive Neuropathy, Congenital, with Arthrogryposis Multiplex Neuropathy, Hereditary Motor and Sensory, Okinawa Type Neuropathy, Hereditary Motor and Sensory, Russe Type Neuropathy, Hereditary Motor and Sensory, Type Via Neuropathy, Hereditary Motor and Sensory, Type Vib Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers Neuropathy, Hereditary Sensory and Autonomic, Type Ia Neuropathy, Hereditary Sensory and Autonomic, Type Ic Neuropathy, Hereditary Sensory and Autonomic, Type Iia Neuropathy, Hereditary Sensory and Autonomic, Type Iib Neuropathy, Hereditary Sensory and Autonomic, Type Iii Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux Neuropathy, Hereditary Sensory and Autonomic, Type V Neuropathy, Hereditary Sensory and Autonomic, Type Vi Neuropathy, Hereditary Sensory and Autonomic, Type Vii Neuropathy, Hereditary Sensory and Autonomic, Type Viii Neuropathy, Hereditary Sensory, Type Id Neuropathy, Hereditary Sensory, Type Ie Neuropathy, Hereditary Sensory, Type if Neuropathy, Hereditary Sensory, Type Iic Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive Neuropathy, Hereditary Thermosensitive Neuropathy, Hereditary, with Liability to Pressure Palsies Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration Neuropathy Sensory Spastic Paraplegia Neuropathy with Hearing Impairment Neurosyphilis Neurotrophic Keratopathy Neutral Lipid Storage Disease with Myopathy Neutropenia Neutropenia, Chronic Familial Neutropenia, Lethal Congenital, with Eosinophilia Neutropenia Monocytopenia Deafness Neutropenia, Nonimmune Chronic Idiopathic, of Adults Neutropenia, Severe Congenital, 1, Autosomal Dominant Neutropenia, Severe Congenital, 2, Autosomal Dominant Neutropenia, Severe Congenital, 3, Autosomal Recessive Neutropenia, Severe Congenital, 4, Autosomal Recessive Neutropenia, Severe Congenital, 5, Autosomal Recessive Neutropenia, Severe Congenital, 6, Autosomal Recessive Neutropenia, Severe Congenital, 7, Autosomal Recessive Neutropenia, Severe Congenital, X-Linked Neutrophilia, Hereditary Neutrophilic Dermatosis, Acute Febrile Neutrophil Immunodeficiency Syndrome Neutrophil-Specific Granule Deficiency Nevada Syndrome Nevoid Hypermelanosis, Linear and Whorled Nevus Comedonicus Nevus, Epidermal Nevus Mucinosis Nevus of Ota New Daily-Persistent Headache Nf-Kappa B Essential Modulator Deficiency Nguyen Syndrome Nicolaides-Baraitser Syndrome Niemann-Pick Disease Niemann-Pick Disease, Type a Niemann-Pick Disease, Type B Niemann-Pick Disease, Type C1 Niemann-Pick Disease, Type C2 Niemann-Pick Disease Type C, Adult Neurologic Onset Niemann-Pick Disease Type C, Juvenile Neurologic Onset Niemann-Pick Disease Type C, Late Infantile Neurologic Onset Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset Niemann-Pick Disease Type C, Severe Perinatal Form Nievergelt Syndrome Night Blindness Night Blindness, Congenital Stationary, Autosomal Dominant 1 Night Blindness, Congenital Stationary, Autosomal Dominant 2 Night Blindness, Congenital Stationary, Autosomal Dominant 3 Night Blindness, Congenital Stationary, Type 1a Night Blindness, Congenital Stationary, Type 1b Night Blindness, Congenital Stationary, Type 1c Night Blindness, Congenital Stationary, Type 1d Night Blindness, Congenital Stationary, Type 1e Night Blindness, Congenital Stationary, Type 1f Night Blindness, Congenital Stationary, Type 1g Night Blindness, Congenital Stationary, Type 1h Night Blindness, Congenital Stationary, Type 2a Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome Nijmegen Breakage Syndrome Nijmegen Breakage Syndrome-Like Disorder Nik Deficiency Nipah Virus Disease Nipah Virus Encephalitis Nipples, Supernumerary Nk-Cell Enteropathy Noble Bass Sherman Syndrome Nocardiosis Nodal Marginal Zone B-Cell Lymphoma Nodding Syndrome Nodular Cutaneous Amyloidosis Nodular Lichen Myxedematosus Nodular Lymphocyte Predominant Hodgkin Lymphoma Nodular Malignant Melanoma Nodular Neuronal Heterotopia Nodular Nonsuppurative Panniculitis Nodular Regenerative Hyperplasia Nodular Urticaria Pigmentosa Noma Non 24 Hour Sleep Wake Disorder Non-a-E Hepatitis Nonaka Myopathy Nonalcoholic Steatohepatitis Non-Amyloid Monoclonal Immunoglobulin Deposition Disease Nonarteritic Anterior Ischemic Optic Neuropathy Non-Central Nervous System-Localized Embryonal Carcinoma Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency Non-Distal Monosomy 10q Non-Distal Monosomy 12q Non-Distal Monosomy 20q Non-Distal Monosomy 7p Non-Distal Trisomy 10q Non-Distal Trisomy 13q Non-Distal Trisomy 9q Nondystrophic Myotonia Non-Dystrophic Myotonic Disorders Non-Functioning Pancreatic Endocrine Tumor Non-Functioning Paraganglioma Non-Functioning Pituitary Adenoma Non-Hereditary Retinoblastoma Non-Herpetic Acute Limbic Encephalitis Non-Hodgkin Lymphoma, Childhood Non-Hodgkin Lymphoma, During Pregnancy Non-Hypoproteinemic Hypertrophic Gastropathy Non-Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis Non-Involuting Congenital Hemangioma Non-Langerhans-Cell Histiocytosis Non-Lissencephalic Cortical Dysplasia Non-Papillary Transitional Cell Carcinoma of the Bladder Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy with Peripheral Neuropathy Non-Recovering Obstetric Brachial Plexus Lesion Non-Secreting Chemodectoma Nonseminomatous Germ Cell Tumor Non-Small Cell Lung Cancer, Childhood Nonspecific Interstitial Pneumonia Nonsyndromic Deafness Non-Syndromic Genetic Deafness Nonsyndromic Hereditary Sensorineural Hearing Loss Nonsyndromic Holoprosencephaly Non-Syndromic Male Infertility Due to Sperm Motility Disorder Nonsyndromic Paraganglioma Nonsyndromic Retinitis Pigmentosa Nontuberculous Mycobacterial Lung Disease Noonan-Like/multiple Giant Cell Lesion Syndrome Noonan Syndrome 1 Noonan Syndrome 10 Noonan Syndrome 2 Noonan Syndrome 3 Noonan Syndrome 4 Noonan Syndrome 5 Noonan Syndrome 6 Noonan Syndrome 7 Noonan Syndrome 8 Noonan Syndrome 9 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia Noonan Syndrome with Multiple Lentigines Normokalemic Periodic Paralysis Normosmic Congenital Hypogonadotropic Hypogonadism Norrie Disease Norse North American Indian Childhood Cirrhosis Norwegian Scabies Nose, Anomalous Shape of Notalgia Paresthetica Not Otherwise Specified 3-Mga-Uria Type Novak Syndrome Nova Syndrome Nuchal Bleb, Familial Nuclear Gene-Encoded Leigh Syndrome Null Pituitary Adenoma Numeric Sex Chromosome Variations Nut Midline Carcinoma Nystagmus 1, Congenital, X-Linked Nystagmus 2, Congenital, Autosomal Dominant Nystagmus 3, Congenital, Autosomal Dominant Nystagmus 4, Congenital, Autosomal Dominant Nystagmus 5, Congenital, X-Linked Nystagmus 6, Congenital, X-Linked Nystagmus 7, Congenital, Autosomal Dominant Nystagmus, Congenital, Autosomal Recessive Nystagmus, Congenital Motor, Autosomal Recessive Nystagmus, Hereditary Vertical Nystagmus, Myoclonic O'sullivan-Mcleod Syndrome Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome Obesity Due to Congenital Leptin Deficiency Obesity Due to Sim1 Deficiency Occipital Encephalocele Occipital Horn Syndrome Occult Macular Dystrophy Ochronosis Ocular Albinism Ocular Albinism, X-Linked Ocular Cicatricial Pemphigoid Ocular Melanoma Ocular Motility Disease Ocular Motor Apraxia Ocular Muscular Dystrophy Ocular Neuromyotonia Ocular Toxoplasmosis Oculoauricular Syndrome Oculoauriculofrontonasal Syndrome Oculo-Cerebral Dysplasia Oculocerebral Hypopigmentation Syndrome of Preus Oculocerebral Syndrome with Hypopigmentation Oculocerebrocutaneous Syndrome Oculocutaneous Albinism Oculodentodigital Dysplasia Oculodentodigital Dysplasia, Autosomal Recessive Oculodentodigital Dysplasia Dominant Oculodentoosseous Dysplasia Recessive Oculo Digital Syndrome Oculoectodermal Syndrome Oculomaxillofacial Dysostosis Oculopalatocerebral Syndrome Oculopharyngeal Muscular Dystrophy Oculopharyngodistal Myopathy Oculorenocerebellar Syndrome Oculo Skeletal Renal Syndrome Oculotrichodysplasia O Donnell Pappas Syndrome Odontogenic Myxoma Odontoma Odontoma-Dysphagia Syndrome Odontomicronychial Dysplasia Odontoonychodermal Dysplasia Odonto Onycho Dysplasia with Alopecia Odontotrichoungual-Digital-Palmar Syndrome Oeis Complex Ogden Syndrome Ogilvie Syndrome Ohdo Syndrome Ohdo Syndrome, Sbbys Variant Ohdo Syndrome, X-Linked Okihiro Syndrome Due to 20q13 Microdeletion Okihiro Syndrome Due to a Point Mutation Olfactory Neuroblastoma Oligoarticular Juvenile Idiopathic Arthritis Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies Oligoastrocytoma Oligocone Trichromacy Oligodendroglioma Oligodontia-Colorectal Cancer Syndrome Oligomeganephronic Renal Hypoplasia Oliver-Mcfarlane Syndrome Oliver Syndrome Olivopontocerebellar Atrophy Olivopontocerebellar Atrophy Deafness Olivopontocerebellar Atrophy Ii, Autosomal Recessive Olivopontocerebellar Atrophy V Omenn Syndrome Omodysplasia Omodysplasia 1 Omodysplasia 2 Omphalocele Omphalocele, Autosomal Omphalocele-Cleft Palate Syndrome, Lethal Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects Omphalocele-Diaphragmatic Hernia-Cardiovascular Anomalies-Radial Ray Defect Syndrome Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects Complex Omphalomesenteric Cyst Omsk Hemorrhagic Fever Onchocerciasis Oncogenic Osteomalacia Onychocytic Matricoma Onychodystrophy-Anonychia Onychomatricoma Onychotrichodysplasia and Neutropenia Open-Angle Glaucoma Open Iniencephaly Ophn1 Syndrome Ophthalmia Neonatorum Ophthalmomandibulomelic Dysplasia Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency Ophthalmoplegic Muscular Dystrophy Opisthorchiasis Opitz-Gbbb Syndrome Opitz Gbbb Syndrome, Type I Opitz Gbbb Syndrome, Type Ii Opitz-Kaveggia Syndrome Opsismodysplasia Opsoclonus-Myoclonus Syndrome Opthalmic Icthyosis Opthalmomandibulomelic Dysplasia Opthalmoplegia Myalgia Tubular Aggregates Opthalmoplegia Progressive External Scoliosis Optic Atrophy 1 Optic Atrophy 11 Optic Atrophy 1 and Deafness Optic Atrophy 2 Optic Atrophy 3, Autosomal Dominant Optic Atrophy 4 Optic Atrophy 5 Optic Atrophy 6 Optic Atrophy 7 with or Without Auditory Neuropathy Optic Atrophy 8 Optic Atrophy 9 Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia Optic Atrophy-Peripheral Neuropathy-Developmental Delay Syndrome Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy Optic Disc Anomalies with Retinal and/or Macular Dystrophy Optic Nerve Hypoplasia, Bilateral Optic Nerve Hypoplasia, Familial Bilateral Optic Neuritis Optic Pathway Glioma Optic Perineuritis Oral and Digital Anomalies with Ichthyosis Oral Antidiabetic Drugs Toxicity or Dose Selection Oral Cancer Oral Erosive Lichen Oral Leukoplakia Oral Lichen Planus Oral Pharyngeal Disorders Oral Squamous Cell Carcinoma Oral Submucous Fibrosis Orbital Leiomyoma Orbital Lymphangioma Orbital Lymphoma Orbital Margin, Hypoplasia of Orbital Melanoma Orbital Varix Organic Acidemia Organic Mood Syndrome Orgasm-Induced Seizures Ornithinemia Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to Ornithosis Orofacial Cleft Orofacial Cleft 1 Orofacial Cleft 10 Orofacial Cleft 11 Orofacial Cleft 12 Orofacial Cleft 13 Orofacial Cleft 14 Orofacial Cleft 15 Orofacial Cleft 2 Orofacial Cleft 3 Orofacial Cleft 4 Orofacial Cleft 5 Orofacial Cleft 6 Orofacial Cleft 9 Orofacial Granulomatosis Orofaciodigital Syndrome Orofaciodigital Syndrome 12 Orofaciodigital Syndrome 13 Orofaciodigital Syndrome I Orofaciodigital Syndrome Iii Orofaciodigital Syndrome Iv Orofaciodigital Syndrome Ix Orofaciodigital Syndrome V Orofaciodigital Syndrome Vi Orofaciodigital Syndrome Vii Orofaciodigital Syndrome Viii Orofaciodigital Syndrome X Orofaciodigital Syndrome Xi Orofaciodigital Syndrome Xiv Orofaciodigital Syndrome Xv Orofaciodigital Syndrome Xvi Oromandibular Dystonia Oro-Mandibular-Limb Hypogenesis Syndrome Oropharyngeal Cancer, Adult Oropharyngeal Cancer, Childhood Orotic Aciduria Orstavik Lindemann Solberg Syndrome Orthostatic Intolerance Osebold-Remondini Syndrome Osgood-Schlatter's Disease Oslam Syndrome Osseous Heteroplasia, Progressive Ossicular Malformations, Familial Ossification Anomalies-Psychomotor Developmental Delay Syndrome Ossification of the Posterior Longitudinal Ligament of Spine Ossifying Fibroma Osteoarthritis with Mild Chondrodysplasia Osteoblastoma Osteochondritis Dissecans Osteochondrodysplasia Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome Osteochondroma Osteochondrosis Osteoclastic Giant Cell Tumor of Pancreas Osteodysplasia, Familial, Anderson Type Osteodysplasty, Precocious, of Danks, Mayne, and Kozlowski Osteofibrous Dysplasia Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts Osteogenesis Imperfecta Levin Type Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type Ii Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Iv Osteogenesis Imperfecta, Type Ix Osteogenesis Imperfecta, Type V Osteogenesis Imperfecta, Type Vi Osteogenesis Imperfecta, Type Vii Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type X Osteogenesis Imperfecta, Type Xi Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv Osteogenesis Imperfecta, Type Xv Osteogenesis Imperfecta, Type Xvi Osteogenesis Imperfecta, Type Xvii Osteogenic Sarcoma Osteoglophonic Dysplasia Osteolysis Syndrome, Recessive Osteomalacia Osteomesopyknosis Osteomyelitis Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis Osteonecrosis of the Jaw Osteopathia Striata with Cranial Sclerosis Osteopathia Striata with Pigmentary Dermopathy Including White Forelock Osteopenia and Sparse Hair Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome Osteopetrosis Osteopetrosis and Infantile Neuroaxonal Dystrophy Osteopetrosis, Autosomal Dominant 1 Osteopetrosis, Autosomal Dominant 2 Osteopetrosis, Autosomal Recessive 1 Osteopetrosis, Autosomal Recessive 2 Osteopetrosis, Autosomal Recessive 3 Osteopetrosis, Autosomal Recessive 4 Osteopetrosis, Autosomal Recessive 5 Osteopetrosis, Autosomal Recessive 6 Osteopetrosis, Autosomal Recessive 7 Osteopetrosis, Autosomal Recessive 8 Osteopoikilosis Osteopoikilosis and Dacryocystitis Osteoporosis Osteoporosis and Oculocutaneous Hypopigmentation Syndrome Osteoporosis, Juvenile Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome Osteoporosis-Pseudoglioma Syndrome Osteosclerosis Abnormalities of Nervous System and Meninges Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome Osteosclerosis with Ichthyosis and Premature Ovarian Failure Osteosclerotic Metaphyseal Dysplasia Otodental Dysplasia Otofaciocervical Syndrome 1 Otofaciocervical Syndrome 2 Otoonychoperoneal Syndrome Oto-Palatal-Digital Syndrome Otopalatodigital Spectrum Disorders Otopalatodigital Syndrome Otopalatodigital Syndrome, Type I Otopalatodigital Syndrome, Type Ii Otosclerosis Otosclerosis 1 Otosclerosis 10 Otosclerosis 2 Otosclerosis 3 Otosclerosis 4 Otosclerosis 5 Otosclerosis 7 Otosclerosis 8 Otosclerosis, Familial Otospondylomegaepiphyseal Dysplasia Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive Ouvrier Billson Syndrome Ovalocytosis, Southeast Asian Ovarian Benign Neoplasm Ovarian Cancer Ovarian Cancer 1 Ovarian Carcinosarcoma Ovarian Clear Cell Carcinoma Ovarian Disease Ovarian Dysgenesis 1 Ovarian Dysgenesis 2 Ovarian Dysgenesis 3 Ovarian Dysgenesis 4 Ovarian Dysgenesis 5 Ovarian Epithelial Cancer Ovarian Fibroma Ovarian Fibrothecoma Ovarian Germ Cell Cancer Ovarian Hyperstimulation Syndrome Ovarian Insufficiency Due to Fsh Resistance Ovarian Insufficiency, Familial Ovarian Low Malignant Potential Tumor Ovarian Remnant Syndrome Ovarian Sex Cord Tumor with Annular Tubules Ovarian Small Cell Carcinoma Ovary Adenocarcinoma Overgrowth Radial Ray Defect Arthrogryposis Overgrowth Syndrome with 2q37 Translocations Overhydrated Hereditary Stomatocytosis Overlap Myositis Pachygyria Pachygyria, Frontotemporal Pachygyria-Intellectual Disability-Epilepsy Syndrome Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts Pachyonychia Congenita 1 Pachyonychia Congenita 2 Pachyonychia Congenita 3 Pachyonychia Congenita 4 Pachyonychia Congenita, Autosomal Recessive Pacman Dysplasia Pacs1-Related Syndrome Paget's Disease of Bone Paget Disease, Extramammary Paget Disease of Bone 5, Juvenile-Onset Pagod Syndrome Pagon Stephan Syndrome Paine Syndrome Painful Legs and Moving Toes Syndrome Painful Orbital and Systemic Neurofibromas-Marfanoid Habitus Syndrome Palant Cleft Palate Syndrome Palatopharyngeal Incompetence Palindromic Rheumatism Pallister-Hall Syndrome Pallister-Killian Mosaic Syndrome Pallister-Killian Syndrome Pallister W Syndrome Palmer Pagon Syndrome Palmoplantar Carcinoma, Multiple Self-Healing Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal Palmoplantar Keratoderma and Congenital Alopecia 1 Palmoplantar Keratoderma and Congenital Alopecia 2 Palmoplantar Keratoderma and Woolly Hair Palmoplantar Keratoderma, Bothnian Type Palmoplantar Keratoderma, Epidermolytic Palmoplantar Keratoderma I, Striate, Focal, or Diffuse Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques Palmoplantar Keratoderma, Nagashima Type Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse Palmoplantar Keratoderma, Norrbotten Recessive Type Palmoplantar Keratoderma of Sybert Palmoplantar Keratoderma, Punctate Type Ia Palmoplantar Keratoderma, Punctate Type Ib Palmoplantar Keratoderma, Punctate Type Ii Palmoplantar Keratoderma, Punctate Type Iii Palmoplantar Keratoderma-Sclerodactyly Syndrome Palmoplantar Keratosis Panbronchiolitis, Diffuse Pancreas, Annular Pancreas, Dorsal, Agenesis of Pancreatic Adenoma Pancreatic Agenesis Pancreatic Agenesis 1 Pancreatic Agenesis 2 Pancreatic and Cerebellar Agenesis Pancreatic Cancer Pancreatic Cancer 1 Pancreatic Cancer 2 Pancreatic Cancer 3 Pancreatic Cancer 4 Pancreatic Cancer, Childhood Pancreatic Intraductal Papillary-Colloid Carcinoma Pancreatic Islet Cell Tumors Pancreatic Lipase Deficiency Pancreatic Lipomatosis Duodenal Stenosis Pancreatic Neuroendocrine Tumor Pancreatic Serous Cystadenocarcinoma Pancreatitis Pancreatitis, Hereditary Pancreatitis, Pediatric Pancreatoblastoma Pandas Panencephalitis, Subacute Sclerosing Panhypophysitis Panhypopituitarism, X-Linked Panner Disease Panostotic Fibrous Dysplasia Panuveitis Papillary Carcinoma of the Cervix Uteri Papillary Carcinoma of the Corpus Uteri Papillary Cystadenocarcinoma Papillary Glioneuronal Tumors Papillary Tumor of the Pineal Region Papilledema Papilloma of Choroid Plexus Papillomatosis, Florid, of Nipple Papillon-Lefevre Syndrome Papillorenal Syndrome Papular Elastorrhexis Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome Papular Mucinosis Papular Mucinosis of Infancy Papular Urticaria Papular Xanthoma Paracetamol Poisoning Parachute Tricuspid Valve Paracoccidioidomycosis Paraganglioma Paraganglioma and Gastric Stromal Sarcoma Paragangliomas 1 Paragangliomas 2 Paragangliomas 3 Paragangliomas 4 Paragangliomas 5 Paragonimiasis Parainfluenza Virus Type 3 Paralysis Agitans, Juvenile, of Hunt Paramedian Nasal Cleft Paramyotonia Congenita of Von Eulenburg Parana Hard-Skin Syndrome Paranasal Sinus Cancer Paranasal Sinus Cancer, Adult Paranasal Sinus Cancer, Childhood Paraneoplastic Cerebellar Degeneration Paraneoplastic Neurologic Disorders Paraneoplastic Pemphigus Paraneoplastic Uveitis Paraomphalocele Paraparetic Variant of Guillain-Barré Syndrome Paraplegia Paraplegia-Brachydactyly-Cone-Shaped Epiphysis Syndrome Parapsoriasis Paraquat Lung Paraquat Poisoning Parasitic Helminthiasis Infectious Disease Parasomnia, Sleep Bruxism Type Parastremmatic Dwarfism Paratesticular Adenocarcinoma Parathyroid Cancer, Childhood Parathyroid Carcinoma Paratyphoid Fever Parc Syndrome Parietal Encephalocele Parietal Foramina Parietal Foramina 1 Parietal Foramina 2 Parietal Foramina 3 Parietal Foramina with Cleidocranial Dysplasia Parkes Weber Syndrome Parkinson-Dementia Syndrome Parkinson Disease 10 Parkinson Disease 11, Autosomal Dominant Parkinson Disease 12 Parkinson Disease 13, Autosomal Dominant Parkinson Disease 14, Autosomal Recessive Parkinson Disease 15, Autosomal Recessive Early-Onset Parkinson Disease 16 Parkinson Disease 17 Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset Parkinson Disease 1, Autosomal Dominant Parkinson Disease 20, Early-Onset Parkinson Disease 21 Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset Parkinson Disease 2, Autosomal Recessive Juvenile Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant Parkinson Disease 5, Autosomal Dominant Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset Parkinson Disease 8, Autosomal Dominant Parkinson Disease, Late-Onset Parkinson Disease Type 9 Parkinsonism-Dystonia, Infantile Parkinsonism with Dementia of Guadeloupe Parkinsonism with Spasticity, X-Linked Paroxysmal Cold Hemoglobinuria Paroxysmal Exertion-Induced Dyskinesia Paroxysmal Extreme Pain Disorder Paroxysmal Hemicrania Paroxysmal Nocturnal Hemoglobinuria Paroxysmal Nocturnal Hemoglobinuria 1 Paroxysmal Nocturnal Hemoglobinuria 2 Paroxysmal Nonkinesigenic Dyskinesia 1 Paroxysmal Nonkinesigenic Dyskinesia 2 Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia Paroxysmal Ventricular Fibrillation Paroxysomal Nonkinesigenic Dyskinesia Parsonage Turner Syndrome Pars Planitis Partial Atrioventricular Canal Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome Partial Cryptophthalmia Partial Deep Dermal and Full Thickness Burns Partial Deletion of Y Partial Duplication of the Short Arm of Chromosome X Partial Hydatidiform Mole Partially Involuting Congenital Hemangioma Partial Septate Uterus Partington X-Linked Mental Retardation Syndrome Parvovirus Antenatal Infection Passos-Bueno Syndrome Pasteurella Multocida Infection Patau Syndrome Patel Bixler Syndrome Patella Aplasia-Hypoplasia Patella Aplasia/hypoplasia, Bilateral Patella Aplasia/hypoplasia, Unilateral Patella, Chondromalacia of Patella, Familial Recurrent Dislocation of Patent Ductus Arteriosus 1 Patent Ductus Arteriosus 2 Patent Ductus Arteriosus 3 Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies Patent Ductus Venosus Patent Foramen Ovale Patent Urachus Paternal 20q13.2q13.3 Microdeletion Syndrome Paternal Uniparental Disomy of Chromosome 1 Paternal Uniparental Disomy of Chromosome 13 Paternal Uniparental Disomy of Chromosome 20 Paternal Uniparental Disomy of Chromosome 21 Paternal Uniparental Disomy of Chromosome 5 Paternal Uniparental Disomy of Chromosome 6 Paternal Uniparental Disomy of Chromosome 7 Paternal Uniparental Disomy of Chromosome X Patterned Macular Dystrophy Patterson Pseudoleprechaunism Syndrome Patulous Eustachian Tube Pauciarticular Chronic Arthritis Pauciarticular Onset Juvenile Idiopathic Arthritis Pauci-Immune Glomerulonephritis Pauci-Immune Glomerulonephritis with Anca Pauci-Immune Glomerulonephritis Without Anca Pcdh19-Related Female-Limited Epilepsy Pdgfrb-Associated Chronic Eosinophilic Leukemia Pearson Marrow-Pancreas Syndrome Pectus Carinatum Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails Pediatric Acute-Onset Neuropsychiatric Syndrome Pediatric Arterial Ischemic Stroke Pediatric Castleman Disease Pediatric Collagenous Gastritis Pediatric Hypertension Pediatric Multiple Sclerosis Pediatric Systemic Lupus Erythematosus Pediatric T-Cell Leukemia Pediatric Ulcerative Colitis Peeling Skin Syndrome Peeling Skin Syndrome 1 Peeling Skin Syndrome 2 Peeling Skin Syndrome 3 Peeling Skin Syndrome 4 Peeling Skin Syndrome 5 Peeling Skin Syndrome Type C Peeling Skin with Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads Peho-Like Syndrome Peho Syndrome Pelger-Huet Anomaly Pelizaeus-Merzbacher Disease Pelizaeus-Merzbacher Disease, Classic Form Pelizaeus-Merzbacher Disease in Female Carriers Pelizaeus-Merzbacher Disease, Transitional Form Pelizaeus-Merzbacher-Like Disease Pellagra Pellagra-Like Syndrome Pellucid Marginal Degeneration Pelvic Dysplasia Arthrogryposis of Lower Limbs Pelvic Hypoplasia with Lower-Limb Arthrogryposis Pelvic Lipomatosis Pelvis-Shoulder Dysplasia Pemphigoid Gestationis Pemphigus Pemphigus and Fogo Selvagem Pemphigus Erythematosus Pemphigus Foliaceus Pemphigus Vegetans Pemphigus Vulgaris Pemphigus Vulgaris, Familial Pendred Syndrome Penile Agenesis Penile Cancer Penile Cancer, Adult Penile Cancer, Childhood Penis Agenesis Penis Squamous Cell Carcinoma Penoscrotal Transposition Pentalogy of Cantrell Pentosuria Penttinen-Aula Syndrome Pepck 1 Deficiency Peptidic Growth Factors Deficiency Pericardial and Diaphragmatic Defect Perifolliculitis Capitis Abscedens Et Suffodiens, Familial Perilymphatic Fistula Perimyositis Perinatal Necrotizing Enterocolitis Perineurioma Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Periodic Fever, Familial, Autosomal Dominant Periodic Fever, Menstrual Cycle-Dependent Periodic Paralysis with Later-Onset Distal Motor Neuropathy Periodic Paralysis with Transient Compartment-Like Syndrome Periodontal Ehlers-Danlos Syndrome Periodontitis Periodontitis, Chronic Perioral Myoclonia with Absences Peripartum Cardiomyopathy Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Peripheral Dysostosis Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss Peripheral Resistance to Thyroid Hormones Peripheral T-Cell Lymphoma Peritoneal Benign Neoplasm Peritoneal Cystic Mesothelioma Peritoneal Mesothelioma Peritonitis Periventricular Leukomalacia Periventricular Nodular Heterotopia Periventricular Nodular Heterotopia 1 Periventricular Nodular Heterotopia 6 Periventricular Nodular Heterotopia 7 Perlman Syndrome Permanent Molars, Secondary Retention of Pernicious Anemia Perniosis Peroneal Nerve, Accessory Deep Peroxisomal Acyl-Coa Oxidase Deficiency Peroxisomal Beta-Oxidation Disorder Peroxisomal Biogenesis Disorders Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder Peroxisome Biogenesis Disorder 10a Peroxisome Biogenesis Disorder 10b Peroxisome Biogenesis Disorder 11a Peroxisome Biogenesis Disorder 11b Peroxisome Biogenesis Disorder 12a Peroxisome Biogenesis Disorder 13a Peroxisome Biogenesis Disorder 14b Peroxisome Biogenesis Disorder 1a Peroxisome Biogenesis Disorder 1b Peroxisome Biogenesis Disorder 2a Peroxisome Biogenesis Disorder 2b Peroxisome Biogenesis Disorder 3a Peroxisome Biogenesis Disorder 3b Peroxisome Biogenesis Disorder 4a Peroxisome Biogenesis Disorder 4b Peroxisome Biogenesis Disorder 5a Peroxisome Biogenesis Disorder 5b Peroxisome Biogenesis Disorder 6a Peroxisome Biogenesis Disorder 6b Peroxisome Biogenesis Disorder 7a Peroxisome Biogenesis Disorder 7b Peroxisome Biogenesis Disorder 8a Peroxisome Biogenesis Disorder 8b Peroxisome Biogenesis Disorder 9b Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Peroxisome Disorders Perrault Syndrome Perrault Syndrome 1 Perrault Syndrome 2 Perrault Syndrome 3 Perrault Syndrome 4 Perrault Syndrome 5 Perrault Syndrome 6 Perry Syndrome Persistent Eustachian Valve Persistent Fifth Aortic Arch Persistent Genital Arousal Disorder Persistent Hyperplastic Primary Vitreous Persistent Hyperplastic Primary Vitreous, Autosomal Dominant Persistent Hyperplastic Primary Vitreous, Autosomal Recessive Persistent Idiopathic Facial Pain Persistent Left Superior Vena Cava Connecting to the Left-Sided Atrium Persistent Mullerian Duct Syndrome Persistent Mullerian Duct Syndrome, Types I and Ii Persistent Placoid Maculopathy Persistent Polyclonal B-Cell Lymphocytosis Pertussis Peters Anomaly-Cataract Syndrome Peters-Plus Syndrome Petit-Fryns Syndrome Pettigrew Syndrome Peutz-Jeghers Syndrome Peyronie's Disease Peyronie Disease Pfeiffer Kapferer Syndrome Pfeiffer Mayer Syndrome Pfeiffer-Palm-Teller Syndrome Pfeiffer Rockelein Syndrome Pfeiffer Syndrome Pfeiffer Tietze Welte Syndrome Pgm3-Cdg Phace Syndrome Phacoanaphylactic Uveitis Phacomatosis Pigmentokeratotica Phacomatosis Pigmentovascularis Phaeohyphomycosis Phakomatosis Cesioflammea Phakomatosis Cesiomarmorata Phakomatosis Pigmentokeratotica Phakomatosis Spilorosea Phalangeal Microgeodic Syndrome Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome Phaver Syndrome Phelan-Mcdermid Syndrome Phenobarbital Antenatal Exposure Phenylketonuria Phenytoin or Carbamazepine Toxicity Pheochromocytoma Pheochromocytoma, Childhood Pheochromocytoma--Islet Cell Tumor Syndrome Philadelphia-Negative Chronic Myeloid Leukemia Phocomelia Phocomelia Ectrodactyly Deafness Sinus Arrhythmia Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial Phosphoglycerate Dehydrogenase Deficiency Phosphoglycerate Kinase 1 Deficiency Phosphoglycerate Kinase Deficiency Phosphoglycerate Mutase Deficiency Phosphomannoisomerase Deficiency Phosphoribosylpyrophosphate Synthetase Deficiency Phosphoribosylpyrophosphate Synthetase Superactivity Phosphoserine Aminotransferase Deficiency Phosphoserine Phosphatase Deficiency Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction Photosensitive Epilepsy Pick Disease of Brain Piebald Trait Piebald Trait with Neurologic Defects Piepkorn Karp Hickok Syndrome Pierpont Syndrome Pierre Robin Sequence with Facial and Digital Anomalies Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies Pierre Robin Syndrome Pierre Robin Syndrome and Oligodactyly Pierre Robin Syndrome Skeletal Dysplasia Polydactyly Pierson Syndrome Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome Pigmented Nodular Adrenocortical Disease, Primary, 1 Pigmented Nodular Adrenocortical Disease, Primary, 2 Pigmented Nodular Adrenocortical Disease, Primary, 3 Pigmented Nodular Adrenocortical Disease, Primary, 4 Pigmented Paravenous Chorioretinal Atrophy Pigmented Purpuric Dermatosis Pigmented Villonodular Synovitis Pik3ca-Related Overgrowth Spectrum Pili Bifurcati Pili Gemini Pili Torti Pili Torti and Developmental Delay Pili Torti Developmental Delay Neurological Abnormalities Pili Torti, Early-Onset Pili Torti Onychodysplasia Pillay Syndrome Pilocytic Astrocytoma Pilodental Dysplasia with Refractive Errors Pilo Dento Ungular Dysplasia Microcephaly Pilomatrix Carcinoma Pilomatrixoma Pilomyxoid Astrocytoma Pilotto Syndrome Pineal Cyst Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities Pineal Parenchymal Tumor of Intermediate Differenciation Pineal Parenchymal Tumor of Intermediate Differentiation Pineoblastoma Pineoblastoma, Childhood Pineocytoma Pinheiro Freire-Maia Miranda Syndrome Pinnae Fistula or Cyst Pinta Disease Piriformis Syndrome Pitt-Hopkins-Like Syndrome Pitt-Hopkins-Like Syndrome 1 Pitt-Hopkins-Like Syndrome 2 Pitt-Hopkins Syndrome Pituicytoma Pituitary Adenoma Pituitary Adenoma 1, Multiple Types Pituitary Adenoma 3, Multiple Types Pituitary Adenoma 4, Acth-Secreting Pituitary Adenoma 5, Multiple Types Pituitary Adenoma, Prolactin-Secreting Pituitary Apoplexy Pituitary Carcinoma Pituitary Deficiency Due to Empty Sella Turcica Syndrome Pituitary Deficiency Due to Rathke's Cleft Cysts Pituitary Dermoid and Epidermoid Cysts Pituitary Dwarfism with Large Sella Turcica Pituitary Hormone Deficiency, Combined, 1 Pituitary Hormone Deficiency, Combined, 2 Pituitary Hormone Deficiency, Combined, 3 Pituitary Hormone Deficiency, Combined, 4 Pituitary Stalk Interruption Syndrome Pityriasis Lichenoides Pityriasis Lichenoides Chronica Pityriasis Lichenoides Et Varioliformis Acuta Pityriasis Rotunda Pityriasis Rubra Pilaris Piussan Lenaerts Mathieu Syndrome Placenta Disease Placental Insufficiency Placental Site Trophoblastic Tumor Plagiocephaly Plague Plaque-Form Urticaria Pigmentosa Plasmablastic Lymphoma Plasma Cell Leukemia Plasmacytoma Plasmalogens Synthesis Deficiency Isolated Plasminogen Activator Inhibitor-1 Deficiency Plasminogen Deficiency, Type I Plastic Bronchitis Platelet Disorder, Familial, with Associated Myeloid Malignancy Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Pleoconial Myopathy with Salt Craving Pleomorphic Liposarcoma Pleomorphic Rhabdomyosarcoma Pleomorphic Xanthoastrocytoma Pleural Empyema Pleuro-Pericardial Cyst Pleuropulmonary Blastoma Pleuropulmonary Blastoma Type 1 Pleuropulmonary Blastoma Type 2 Pleuropulmonary Blastoma Type 3 Plexosarcoma Plummer Vinson Syndrome Pmp2-Related Charcot-Marie-Tooth Disease Type 1 Pneumocistoză Pneumococcal Meningitis Pneumocystic Carinii Pneumonia Pneumonia Caused by Pseudomonas Aeruginosa Infection Pneumothorax, Primary Spontaneous Podder-Tolmie Syndrome Poems Syndrome Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Poikiloderma, Hereditary Sclerosing Poikiloderma with Neutropenia Pointer Syndrome Poland Syndrome Pol Iii-Related Leukodystrophies Poliomyelitis Poliomyelitis in Patients with Immunodeficiencies Deemed at Risk Polyarteritis Nodosa Polyarteritis Nodosa, Childhood-Onset Polyarticular Onset Juvenile Idiopathic Arthritis Polyclonal Hyperviscosity Syndrome Polycystic Bone Disease Polycystic Kidney Disease Polycystic Kidney Disease 1 Polycystic Kidney Disease 2 Polycystic Kidney Disease 3 Polycystic Kidney Disease 4 with or Without Hepatic Disease Polycystic Kidney Disease 5 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy Polycystic Liver Disease Polycystic Liver Disease 1 Polycystic Liver Disease 2 Polycystic Ovary Syndrome Polycystic Ovary Syndrome 1 Polycythemia Polycythemia Due to Hypoxia Polycythemia Vera Polydactyly Polydactyly Cleft Lip Palate Psychomotor Retardation Polydactyly of a Biphalangeal Thumb, Bilateral Polydactyly of a Biphalangeal Thumb, Unilateral Polydactyly of an Index Finger, Bilateral Polydactyly of an Index Finger, Unilateral Polydactyly of a Triphalangeal Thumb, Bilateral Polydactyly of a Triphalangeal Thumb, Unilateral Polydactyly, Postaxial, Type A1 Polydactyly, Postaxial, Type A2 Polydactyly, Postaxial, Type A3 Polydactyly, Postaxial, Type A4 Polydactyly, Postaxial, Type A5 Polydactyly, Postaxial, Type A6 Polydactyly, Postaxial, Type A7 Polydactyly, Postaxial, with Dental and Vertebral Anomalies Polydactyly, Postaxial, with Progressive Myopia Polydactyly, Preaxial I Polydactyly, Preaxial Ii Polydactyly, Preaxial Iii Polydactyly, Preaxial Iv Polydactyly Syndrome Middle Ray Duplication Polyembryoma Polyendocrine-Polyneuropathy Syndrome Polyglucosan Body Myopathy 1 with or Without Immunodeficiency Polyglucosan Body Myopathy 2 Polyglucosan Body Neuropathy, Adult Form Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Polymerase Proofreading-Related Adenomatous Polyposis Polymicrogyria Polymicrogyria, Bilateral Frontoparietal Polymicrogyria, Bilateral Perisylvian, X-Linked Polymicrogyria, Bilateral Temporooccipital Polymicrogyria Turricephaly Hypogenitalism Polymorphic Reticulosis Polymorphous Low-Grade Adenocarcinoma Polymyositis Polyneuropathy Associated with Igm Monoclonal Gammapathy with Anti-Mag Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome Polyomavirus Allograft Nephropathy Polyosteolysis-Hyperostosis Syndrome Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes Polyposis Syndrome, Hereditary Mixed, 1 Polyposis Syndrome, Hereditary Mixed, 2 Polyradiculoneuropathy Associated with Igg/iga/igm Monoclonal Gammopathy Without Known Antibodies Polyrrhinia Polysyndactyly, Bilateral Polysyndactyly, Crossed Polysyndactyly Trigonocephaly Agenesis of Corpus Callosum Polysyndactyly, Unilateral Polysyndactyly with Cardiac Malformation Polyvalvular Heart Disease Syndrome Poncet-Spiegler's Cylindroma Pontiac Fever Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy Pontine Hemorrhage Pontine Tegmental Cap Dysplasia Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia Type 1 Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 11 Pontocerebellar Hypoplasia, Type 1a Pontocerebellar Hypoplasia, Type 1b Pontocerebellar Hypoplasia, Type 1c Pontocerebellar Hypoplasia, Type 2a Pontocerebellar Hypoplasia, Type 2b Pontocerebellar Hypoplasia, Type 2c Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia, Type 2f Pontocerebellar Hypoplasia, Type 3 Pontocerebellar Hypoplasia, Type 4 Pontocerebellar Hypoplasia, Type 5 Pontocerebellar Hypoplasia, Type 6 Pontocerebellar Hypoplasia, Type 7 Pontocerebellar Hypoplasia, Type 8 Pontocerebellar Hypoplasia, Type 9 Pontoneocerebellar Hypoplasia Poorly Differentiated Thymic Neuroendocrine Carcinoma Popliteal Pterygium Syndrome Popliteal Pterygium Syndrome, Lethal Type Porencephaly Porencephaly 1 Porencephaly 2 Porencephaly, Cerebellar Hypoplasia, and Internal Malformations Poretti-Boltshauser Syndrome Porokeratosis Porokeratosis 1, Multiple Types Porokeratosis 2, Palmar, Plantar, and Disseminated Type Porokeratosis 3, Multiple Types Porokeratosis 4, Disseminated Superficial Actinic Type Porokeratosis 5, Disseminated Superficial Actinic Type Porokeratosis 6, Multiple Types Porokeratosis 7, Multiple Types Porokeratosis 8, Disseminated Superficial Actinic Type Porokeratosis 9, Multiple Types Porokeratotic Eccrine Ostial and Dermal Duct Nevus Porphyria Porphyria, Acute Hepatic Porphyria, Acute Intermittent Porphyria, Congenital Erythropoietic Porphyria Cutanea Tarda Porphyria Cutanea Tarda, Type I Porphyria Variegata Portal Hypertension Portal Hypertension Due to Infrahepatic Block Portal Hypertension, Noncirrhotic Positive Rheumatoid Factor Polyarthritis Posner-Schlossman Syndrome Postaxial Acrofacial Dysostosis Postaxial Oligodactyly, Tetramelic Postaxial Polydactyly of Toes Postaxial Polydactyly of Toes, Bilateral Postaxial Polydactyly of Toes, Unilateral Postaxial Polydactyly Type a, Bilateral Postaxial Polydactyly Type a, Unilateral Postaxial Polydactyly Type B, Bilateral Postaxial Polydactyly Type B, Unilateral Postcardiotomy Right Ventricular Failure Postencephalitic Parkinson Disease Posterior Column Ataxia Posterior Column Ataxia with Retinitis Pigmentosa Posterior Cortical Atrophy Posterior Hypospadias Posterior Meningocele Posterior Polar Cataract Posterior Scleritis Posterior Urethral Valves Posterior Uveal Melanoma Posterior Uveitis Posterior Valve Urethra Post-Infectious Myocarditis Postinfectious Vasculitis Postlingual Non-Syndromic Genetic Deafness Postorgasmic Illness Syndrome Postpartum Psychosis Postpoliomyelitis Syndrome Post-Streptococcal Neurologic Disorders Postsynaptic Congenital Myasthenic Syndromes Posttransplant Acute Limbic Encephalitis Post-Transplant Lymphoproliferative Disease Post-Traumatic Epilepsy Postural Orthostatic Tachycardia Syndrome Potocki-Lupski Syndrome Potocki-Shaffer Syndrome Potter's Syndrome Pouchitis Ppoma Prader-Willi Habitus, Osteopenia, and Camptodactyly Prader-Willi-Like Syndrome Due to a Point Mutation Prader-Willi Syndrome Prader-Willi Syndrome Due to Imprinting Mutation Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 Prader-Willi Syndrome Due to Translocation Preauricular Sinus Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias Preaxial Hallucal Polydactyly Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome Preaxial Polydactyly of Fingers Preaxial Polydactyly of Toes Preaxial Polydactyly of Toes, Bilateral Preaxial Polydactyly of Toes, Unilateral Precocious Epileptic Encephalopathy Precocious Myoclonic Encephalopathy Precocious Puberty Precocious Puberty, Central, 1 Precocious Puberty, Central, 2 Precocious Puberty, Gonadotropin-Dependent Precocious Puberty, Male-Limited Precursor T-Cell Acute Lymphoblastic Leukemia Pre-Descemet Corneal Dystrophy Pre-Eclampsia Prekallikrein Deficiency Prekallikrein Deficiency, Congenital Prelingual Non-Syndromic Genetic Deafness Premature Aging Syndrome, Okamoto Type Premature Aging Syndrome, Penttinen Type Premature Closure of the Arterial Duct Prenatal Benign Hypophosphatasia Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures Presenile Dementia, Kraepelin Type Presynaptic Congenital Myasthenic Syndromes Priapism Prieto X-Linked Mental Retardation Syndrome Primary Adult Heart Tumor Primary Agammaglobulinemia Primary Aldosteronism, Seizures, and Neurologic Abnormalities Primary Amebic Meningoencephalitis Primary Anetoderma Primary Angiitis of the Central Nervous System Primary Biliary Cholangitis Primary Bone Cancer Primary Bone Lymphoma Primary Central Nervous System Lymphoma Primary Cerebellar Degeneration Primary Ciliary Dyskinesia Primary Condylar Hyperplasia Primary Congenital Glaucoma Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma Primary Cutaneous Amyloidosis Primary Cutaneous Anaplastic Large Cell Lymphoma Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type Primary Cutaneous Follicle Center Lymphoma Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma Primary Cutaneous Marginal Zone B-Cell Lymphoma Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified Primary Cutaneous Plasmacytosis Primary Effusion Lymphoma Primary Essential Cutis Verticis Gyrata Primary Familial Brain Calcification Primary Fanconi Syndrome Primary Hepatic Neuroendocrine Carcinoma Primary Hypereosinophilic Syndrome Primary Hyperoxaluria Primary Hyperparathyroidism Primary Hypertrophic Osteoarthropathy Primary Hypomagnesemia Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection Primary Intestinal Lymphangiectasia Primary Intrahepatic Lithiasis Primary Intralymphatic Angioendothelioma Primary Laryngeal Lymphangioma Primary Lateral Sclerosis, Adult, 1 Primary Lateral Sclerosis, Juvenile Primary Localized Amyloidosis Primary Lymphoma of the Conjunctiva Primary Malignant Melanoma of the Cervix Primary Malignant Melanoma of the Conjunctiva Primary Mediastinal Large B-Cell Lymphoma Primary Megaureter, Adult-Onset Form Primary Melanoma of the Central Nervous System Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome Primary Non-Gestational Choriocarcinoma of Ovary Primary Oculocerebral Lymphoma Primary Optic Atrophy Primary Orthostatic Hypotension Primary Orthostatic Tremor Primary Pediatric Heart Tumor Primary Peritoneal Carcinoma Primary Peritoneal Serous/papillary Carcinoma Primary Pigmented Nodular Adrenocortical Disease Primary Plasmacytoma of the Bone Primary Polyarteritis Nodosa Primary Polycythemia Primary Progressive Apraxia of Speech Primary Progressive Freezing Gait Primary Progressive Multiple Sclerosis Primary Pulmonary Lymphoma Primary Release Disorder of Platelets Primary Syphilis Primary Syringomyelia Primary Tethered Cord Syndrome Primary Thrombocytopenia Primary Trimethylaminuria Primary Tubular Proximal Acidosis Primary Unilateral Adrenal Hyperplasia Primitive Neuroectodermal Tumor of the Cervix Uteri Primitive Neuroectodermal Tumor of the Corpus Uteri Primitive Portal Vein Thrombosis Primrose Syndrome Prinzmetal's Variant Angina Prkar1b-Related Neurodegenerative Dementia with Intermediate Filaments Proboscis Lateralis Progeria-Associated Arthropathy Progeria Variant Syndrome Ruvalcaba Type Progeroid Short Stature with Pigmented Nevi Progeroid Syndrome, Neonatal Progeroid Syndrome, Penttinen Type Progeroid Syndrome Petty Type Prognathism, Mandibular Progressive Black Carbon Hyperpigmentation of Infancy Progressive Bulbar Palsy Progressive Cavitating Leukoencephalopathy Progressive Encephalomyelitis with Rigidity and Myoclonus Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 Progressive Familial Heart Block Progressive Familial Heart Block, Type Ia Progressive Familial Heart Block, Type Ib Progressive Familial Heart Block, Type Ii Progressive Kinking of the Hair, Acquired Progressive Multifocal Leukoencephalopathy Progressive Muscular Atrophy Progressive Myoclonic Epilepsy Type 5 Progressive Myoclonus Epilepsy Progressive Nodular Histiocytosis Progressive Non-Fluent Aphasia Progressive Non-Infectious Anterior Vertebral Fusion Progressive Supranuclear Palsy-Corticobasal Syndrome Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome Progressive Transformation of Germinal Centers Prolidase Deficiency Proliferating Trichilemmal Cyst Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome Proliferative Verrucous Leukoplakia Prolonged Electroretinal Response Suppression Proopiomelanocortin Deficiency Properdin Deficiency Properdin Deficiency, X-Linked Propionic Acidemia Propriospinal Myoclonus Proprotein Convertase 1/3 Deficiency Propylthiouracil Embryofetopathy Prosencephaly Cerebellar Dysgenesis Prosopagnosia Prosopagnosia, Hereditary Prostaglandin-Endoperoxide Synthase Deficiency Prostate Cancer Prostate Cancer, Hereditary, 1 Prostate Cancer, Hereditary, 10 Prostate Cancer, Hereditary, 11 Prostate Cancer, Hereditary, 12 Prostate Cancer, Hereditary, 13 Prostate Cancer, Hereditary, 14 Prostate Cancer, Hereditary, 15 Prostate Cancer, Hereditary, 2 Prostate Cancer, Hereditary, 3 Prostate Cancer, Hereditary, 4 Prostate Cancer, Hereditary, 5 Prostate Cancer, Hereditary, 6 Prostate Cancer, Hereditary, 7 Prostate Cancer, Hereditary, 8 Prostate Cancer, Hereditary, 9 Prostate Carcinoma in Situ Prostate Malignant Phyllodes Tumor Prostatic Malacoplakia Associated with Prostatic Abscess Prostatic Stromal Proliferation of Uncertain Malignant Potential Prosthetic Joint Infection Protein C Deficiency Protein R Deficiency Protein S Acquired Deficiency Protein S Deficiency Proteus-Like Syndrome Proteus Like Syndrome Mental Retardation Eye Defect Proteus Syndrome Prothrombin Deficiency Prothrombin Deficiency, Congenital Prothrombin-Related Thrombophilia Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia Protoplasmic Astrocytoma Protoporphyria, Erythropoietic Protoporphyria, Erythropoietic, X-Linked Proximal Chromosome 18q Deletion Syndrome Proximal Spinal Muscular Atrophy Proximal Symphalangism Prp Systemic Amyloidosis Prune Belly Syndrome Prurigo Nodularis Pruritic Urticarial Papules and Plaques of Pregnancy Pseudoachondroplasia Pseudoachondroplastic Dysplasia 2 Pseudoainhum Pseudoangiomatous Stromal Hyperplasia Pseudoarthrosis Pseudoarylsulfatase a Deficiency Pseudobulbar Affect Pseudocholinesterase Deficiency Pseudodiastrophic Dysplasia Pseudo-Gaucher Disease Pseudohermaphrodism Anorectal Anomalies Pseudohermaphroditism, Female, with Skeletal Anomalies Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak Pseudohypoaldosteronism Pseudohypoaldosteronism, Type I, Autosomal Dominant Pseudohypoaldosteronism, Type I, Autosomal Recessive Pseudohypoaldosteronism, Type Iia Pseudohypoaldosteronism, Type Iib Pseudohypoaldosteronism, Type Iic Pseudohypoaldosteronism, Type Iid Pseudohypoaldosteronism, Type Iie Pseudohypoparathyroidism Pseudohypoparathyroidism, Type Ia Pseudohypoparathyroidism, Type Ib Pseudohypoparathyroidism, Type Ic Pseudohypoparathyroidism, Type Ii Pseudoinflammatory Fundus Dystrophy Pseudomarfanism Pseudo-Meigs Syndrome Pseudomonas Stutzeri Infections Pseudomongolism Pseudomyotonia Pseudomyxoma Peritonei Pseudopapilledema Blepharophimosis Hand Anomalies Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies Pseudopelade of Brocq Pseudo Pelger-Huet Anomaly Pseudopolycythaemia Pseudopseudohypoparathyroidism Pseudosarcomatous Fibromatosis Pseudo-Torch Syndrome 1 Pseudo-Torch Syndrome 2 Pseudotrisomy 13 Syndrome Pseudo-Turner Syndrome Pseudotyphus of California Pseudounicornuate Uterus Pseudovaginal Perineoscrotal Hypospadias Pseudo-Von Willebrand Disease Pseudoxanthoma Elasticum Pseudoxanthoma Elasticum, Forme Fruste Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Pseudoxanthoma Elasticum-Like Papillary Dermal Elastolysis Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa Pseudoxanthomatous Diffuse Cutaneous Mastocytosis Psoriasis Psoriasis 1 Psoriasis 10 Psoriasis 11 Psoriasis 12 Psoriasis 13 Psoriasis 14, Pustular Psoriasis 15, Pustular Psoriasis 2 Psoriasis 3 Psoriasis 4 Psoriasis 5 Psoriasis 6 Psoriasis 7 Psoriasis 8 Psoriasis 9 Psoriatic Juvenile Idiopathic Arthritis Psychogenic Movement Psychosocial Short Stature Pten Hamartoma Tumor Syndrome Pterigium Colli Pterygia, Mental Retardation, and Distinctive Craniofacial Features Pterygium, Antecubital Pterygium Colli and Mental Retardation with Facial and Digital Anomalies Pterygium Colli Mental Retardation Digital Anomalies Pterygium of Conjunctiva and Cornea Ptosis Ptosis, Hereditary Congenital 1 Ptosis, Hereditary Congenital 2 Ptosis, Strabismus, and Ectopic Pupils Ptosis Strabismus Diastasis Ptosis-Syndactyly-Learning Difficulties Syndrome Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome Pudendal Neuralgia Puerto Rican Infant Hypotonia Syndrome Pulmonary Alveolar Microlithiasis Pulmonary Alveolar Proteinosis Pulmonary Alveolar Proteinosis, Acquired Pulmonary Arterio-Veinous Fistula Pulmonary Arteriovenous Fistulas Pulmonary Arteriovenous Malformation Pulmonary Artery Agenesis Pulmonary Artery Coming from Patent Ductus Arteriosus Pulmonary Artery Coming from the Aorta Pulmonary Artery Familial Dilatation Pulmonary Artery Hypoplasia Pulmonary Atresia with Intact Ventricular Septum Pulmonary Atresia with Ventricular Septal Defect Pulmonary Blastoma Pulmonary Branches Stenosis Pulmonary Edema of Mountaineers Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome Pulmonary Fibrosis, Idiopathic Pulmonary Fungal Infections in Patients Deemed at Risk Pulmonary Hemosiderosis Pulmonary Hyalinizing Granuloma Pulmonary Hypertension Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis Pulmonary Hypertension, Primary, 1 Pulmonary Hypertension, Primary, 2 Pulmonary Hypertension, Primary, 3 Pulmonary Hypertension, Primary, 4 Pulmonary Hypertension, Primary, Autosomal Recessive Pulmonary Hypoplasia Familial Primary Pulmonary Interstitial Glycogenosis Pulmonary Nodular Lymphoid Hyperplasia, Familial Pulmonary Sequestration Pulmonary Supravalvular Stenosis Pulmonary Surfactant Protein B, Deficiency of Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome Pulmonary Valve Agenesis-Ventricular Septal Defect-Persistent Ductus Arteriosus Syndrome Pulmonary Valves Agenesis Pulmonary Valve Stenosis Pulmonary Vein Stenosis Pulmonary Venoocclusive Disease Pulmonary Venoocclusive Disease 1, Autosomal Dominant Pulmonary Venoocclusive Disease 2, Autosomal Recessive Pulmonary Venous Return Anomaly Pulmonic Stenosis Punctate Acrokeratoderma Freckle Like Pigmentation Punctate Inner Choroidopathy Punctate Palmoplantar Keratoderma Punctate Porokeratosis Pupil, Egg-Shaped Pura Syndrome Pure Autonomic Failure Pure Mitochondrial Myopathy Pure Red-Cell Aplasia Purine Nucleoside Phosphorylase Deficiency Purpura Fulminans Purpura Simplex Pustular Psoriasis Pustulosis Palmaris Et Plantaris Pycnodysostosis Pyknoachondrogenesis Pyle Disease Pyoderma Gangrenosum Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome Pyogenic Arthritis, Pyoderma Gangrenosum and Acne Pyogenic Granuloma Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Pyomyositis Pyridoxal 5'-Phosphate-Dependent Epilepsy Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Pyridoxine Deficiency Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia Pyridoxine-Responsive Sideroblastic Anemia Pyropoikilocytosis, Hereditary Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase E1-Alpha Deficiency Pyruvate Dehydrogenase E1-Beta Deficiency Pyruvate Dehydrogenase E2 Deficiency Pyruvate Dehydrogenase E3-Binding Protein Deficiency Pyruvate Dehydrogenase Phosphatase Deficiency Pyruvate Kinase Deficiency, Liver Type Pyruvate Kinase Deficiency, Muscle Type Pyruvate Kinase Deficiency of Red Cells Pythiosis Qazi Markouizos Syndrome Q Fever Quebec Platelet Disorder Quinquaud's Decalvans Folliculitis Rabies Radial Aplasia, X-Linked Radial Defect Robin Sequence Radial Deficiency-Tibial Hypoplasia Syndrome Radial Hemimelia Radial Hemimelia, Bilateral Radial Hemimelia, Unilateral Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema Radial Ray Agenesis Radial Ray Hypoplasia with Choanal Atresia Radial-Renal Syndrome Radiation Induced Angiosarcoma of the Breast Radiation Induced Brachial Plexopathy Radiation Induced Cancer Radiation Myelitis Radiation Proctitis Radio-Digito-Facial Dysplasia Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies Radio Renal Syndrome Radioulnar Synostosis Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome Radio-Ulnar Synostosis, Bilateral Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome Radio-Ulnar Synostosis Type 1 Radio-Ulnar Synostosis Type 2 Radio-Ulnar Synostosis, Unilateral Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation Radius Absent Anogenital Anomalies Rahman Syndrome Raine Syndrome Rajab Syndrome Raltegravir Toxicity Ramer Ladda Syndrome Ramon Syndrome Ramos Arroyo Clark Syndrome Rapadilino Syndrome Rapidly Involuting Congenital Hemangioma Rapidly Progressive Glomerulonephritis Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome Rapp-Hodgkin Syndrome Rare Adenocarcinoma of the Breast Rare Endometriosis Rare Idiopathic Male Infertility Rare Intellectual Disability Without Developmental Anomaly Rare Isolated Myopia Rare Lichen Planus Rare Variants of Adenocarcinoma of the Corpus Uteri Ras-Associated Autoimmune Leukoproliferative Disorder Rasmussen Encephalitis Rasmussen Johnsen Thomsen Syndrome Rasmussen Subacute Encephalitis Rat Bite Fever Ravine Syndrome Reactive Angioendotheliomatosis Reactive Arthritis Reardon Wilson Cavanagh Syndrome Recessive Dystrophic Epidermolysis Bullosa Recessive Dystrophic Epidermolysis Bullosa-Generalized Other Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome Recombinant Chromosome 8 Syndrome Rectal Cancer, Childhood Rectal Duplication Rectum Neuroendocrine Neoplasm Rectum Squamous Cell Carcinoma Recurrent Acute Pancreatitis Recurrent Hepatitis C Virus Induced Liver Disease in Liver Transplant Recipients Recurrent Hydatidiform Mole Recurrent Idiopathic Neuroretinitis Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome Recurrent Peripheral Facial Palsy Recurrent Respiratory Papillomatosis Red Cell Phospholipid Defect with Hemolysis Red Skin Pigment Anomaly of New Guinea Reducing Body Myopathy Reductional Transverse Limb Defects Reese Retinal Dysplasia Reflex Sympathetic Dystrophy Refractory Anemia Refractory Anemia with Excess Blasts Refractory Anemia with Excess Blasts in Transformation Refractory Anemia with Excess Blasts Type 1 Refractory Anemia with Excess Blasts Type 2 Refractory Celiac Disease Refractory Cytopenia with Unilineage Dysplasia Refsum Disease, Classic Refsum Disease, Infantile Form Refsum Disease with Increased Pipecolic Acidemia Reginato Shiapachasse Syndrome Regional Odontodysplasia Regressive Spondylometaphyseal Dysplasia Relapsing Epidemic Typhus Relapsing Fever Relapsing Polychondritis Renal Adysplasia Dominant Type Renal Agenesis, Bilateral Renal Agenesis Meningomyelocele Mullerian Defect Renal Agenesis, Unilateral Renal Caliceal Diverticuli Deafness Renal Carcinoma, Familial Renal Cell Carcinoma 4 Renal Cell Carcinoma Associated with Neuroblastoma Renal Cell Carcinoma, Nonpapillary Renal Cell Carcinoma, Papillary, 1 Renal Cell Carcinoma, Xp11-Associated Renal Clear Cell Carcinoma Renal Cysts and Diabetes Syndrome Renal Dysplasia Renal Dysplasia, Bilateral Renal Dysplasia Diffuse Autosomal Recessive Renal Dysplasia Diffuse Cystic Renal Dysplasia-Limb Defects Syndrome Renal Dysplasia, Unilateral Renal Failure, Progressive, with Hypertension Renal, Genital, and Middle Ear Anomalies Renal Glucosuria Renal-Hepatic-Pancreatic Dysplasia Renal-Hepatic-Pancreatic Dysplasia 1 Renal-Hepatic-Pancreatic Dysplasia 2 Renal Hypertension Renal Hypodysplasia/aplasia 1 Renal Hypodysplasia/aplasia 2 Renal Hypodysplasia/aplasia 3 Renal Hypoplasia Renal Hypoplasia, Bilateral Renal Hypoplasia, Unilateral Renal Nutcracker Syndrome Renal Oncocytoma Renal Osteodystrophy Renal Tubular Acidosis Renal Tubular Acidosis, Distal Renal Tubular Acidosis, Distal, Autosomal Dominant Renal Tubular Acidosis, Distal, Autosomal Recessive Renal Tubular Acidosis, Distal, Type 3 Renal Tubular Acidosis, Distal, Type 4 Renal Tubular Acidosis, Distal, with Hemolytic Anemia Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness Renal Tubular Acidosis Iii Renal Tubular Acidosis, Proximal Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation Renal Tubular Dysgenesis Renal Tubular Dysgenesis Due to Twin-Twin Transfusion Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia Due to Duplication of Mitochondrial Dna Renier Gabreels Jasper Syndrome Renoanogenital Syndrome Renoprival Hypertension Renpenning Syndrome 1 Resistance to Bleomycine in the Treatment of Testicular Cancer Resistance to Lh Resistance to Tamoxifene Resistance to Thyrotropin-Releasing Hormone Syndrome Resistance to Vitamin K Antagonists Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome Respiratory Distress Syndrome, Infant Respiratory Distress Syndrome in Premature Infants Respiratory Failure Restless Legs Syndrome Restless Legs Syndrome 1 Restless Legs Syndrome 2 Restless Legs Syndrome 3 Restless Legs Syndrome 4 Restless Legs Syndrome 5 Restless Legs Syndrome 6 Restrictive Dermopathy, Lethal Reticular Dysgenesis Reticular Dystrophy of Retinal Pigment Epithelium Reticular Perineurioma Reticulate Acropigmentation of Kitamura Reticuloendotheliosis Reticulohistiocytic Granuloma Reticulosarcoma Reticulum Cell Sarcoma Retiform Hemangioendothelioma Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis Retinal Arteries, Tortuosity of Retinal Capillary Malformation Retinal Cone Dystrophy 1 Retinal Cone Dystrophy 3a Retinal Cone Dystrophy 3b Retinal Cone Dystrophy 4 Retinal Degeneration Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma Retinal Dysplasia, Primary Retinal Dysplasia X-Linked Retinal Dystrophy and Iris Coloboma with or Without Congenital Cataract Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities Retinal Telangiectasia and Hypogammaglobulinemia Retinal Vein Occlusion Retinis Pigmentosa Deafness Hypogenitalism Retinitis Pigmentosa Retinitis Pigmentosa 1 Retinitis Pigmentosa 10 Retinitis Pigmentosa 11 Retinitis Pigmentosa 12 Retinitis Pigmentosa 13 Retinitis Pigmentosa 14 Retinitis Pigmentosa 17 Retinitis Pigmentosa 18 Retinitis Pigmentosa 19 Retinitis Pigmentosa 2 Retinitis Pigmentosa 20 Retinitis Pigmentosa 22 Retinitis Pigmentosa 23 Retinitis Pigmentosa 24 Retinitis Pigmentosa 25 Retinitis Pigmentosa 26 Retinitis Pigmentosa 27 Retinitis Pigmentosa 28 Retinitis Pigmentosa 29 Retinitis Pigmentosa 2, X-Linked Retinitis Pigmentosa 3 Retinitis Pigmentosa 30 Retinitis Pigmentosa 31 Retinitis Pigmentosa 32 Retinitis Pigmentosa 33 Retinitis Pigmentosa 34 Retinitis Pigmentosa 35 Retinitis Pigmentosa 36 Retinitis Pigmentosa 37 Retinitis Pigmentosa 38 Retinitis Pigmentosa 39 Retinitis Pigmentosa 4 Retinitis Pigmentosa 40 Retinitis Pigmentosa 41 Retinitis Pigmentosa 42 Retinitis Pigmentosa 43 Retinitis Pigmentosa 44 Retinitis Pigmentosa 45 Retinitis Pigmentosa 46 Retinitis Pigmentosa 47 Retinitis Pigmentosa 48 Retinitis Pigmentosa 49 Retinitis Pigmentosa 50 Retinitis Pigmentosa 51 Retinitis Pigmentosa 54 Retinitis Pigmentosa 55 Retinitis Pigmentosa 56 Retinitis Pigmentosa 57 Retinitis Pigmentosa 58 Retinitis Pigmentosa 59 Retinitis Pigmentosa 6 Retinitis Pigmentosa 60 Retinitis Pigmentosa 61 Retinitis Pigmentosa 62 Retinitis Pigmentosa 63 Retinitis Pigmentosa 66 Retinitis Pigmentosa 67 Retinitis Pigmentosa 68 Retinitis Pigmentosa 69 Retinitis Pigmentosa 7 Retinitis Pigmentosa 70 Retinitis Pigmentosa 71 Retinitis Pigmentosa 72 Retinitis Pigmentosa 73 Retinitis Pigmentosa 74 Retinitis Pigmentosa 75 Retinitis Pigmentosa 76 Retinitis Pigmentosa 77 Retinitis Pigmentosa 78 Retinitis Pigmentosa 79 Retinitis Pigmentosa 80 Retinitis Pigmentosa 81 Retinitis Pigmentosa 9 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome Retinitis Pigmentosa, Late-Adult Onset Retinitis Pigmentosa with or Without Skeletal Anomalies Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness Retinitis Pigmentosa, Y-Linked Retinoblastoma Retinochoroidal Coloboma Retinohepatoendocrinologic Syndrome Retinopathy Anemia Cns Anomalies Retinopathy Aplastic Anemia Neurological Abnormalities Retinopathy, Arteriosclerotic Retinopathy, Pigmentary, and Mental Retardation Retinoschisis 1, X-Linked, Juvenile Retinoschisis, Autosomal Dominant Retinoschisis of Fovea Retrocerebellar Cyst Retroperitoneal Fibrosis Retroperitoneal Liposarcoma Rett Syndrome Rett Syndrome, Congenital Variant Reunion Island Larsen Syndrome Reversible Cerebral Vasoconstriction Syndrome Revesz Syndrome Reye Syndrome Reynolds Neri Hermann Syndrome Reynolds Syndrome Rhabditida Infections Rhabdoid Cancer Rhabdoid Tumor Predisposition Syndrome 1 Rhabdoid Tumor Predisposition Syndrome 2 Rhabdomyomatous Mesenchymal Hamartoma Rhabdomyosarcoma Rhabdomyosarcoma 2 Rhabdomyosarcoma, Embryonal, 1 Rhabdomyosarcoma, Embryonal, 2 Rhabdomyosarcoma of the Cervix Uteri Rhabdomyosarcoma of the Corpus Uteri Rheumatic Fever Rheumatic Fever-Related Antigen Rheumatoid Arthritis Rheumatoid Arthritis, Systemic Juvenile Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis Rheumatoid Nodulosis Rheumatoid Vasculitis Rhizomelic Chondrodysplasia Punctata Rhizomelic Chondrodysplasia Punctata, Type 1 Rhizomelic Chondrodysplasia Punctata, Type 2 Rhizomelic Chondrodysplasia Punctata, Type 3 Rhizomelic Chondrodysplasia Punctata, Type 5 Rhizomelic Dysplasia, Patterson-Lowry Type Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa Rhizomelic Pseudopolyarthritis Rhizomelic Syndrome Rh-Null, Regulator Type Rhombencephalosynapsis Rhyns Syndrome Ribbing Disease Riboflavin Deficiency Riboflavin Transporter Deficiency Ribose 5-Phosphate Isomerase Deficiency Richards-Rundle Syndrome Richieri-Costa Colletto Otto Syndrome Richieri Costa Da Silva Syndrome Richieri-Costa Guion-Almeida Cohen Syndrome Richieri-Costa/guion-Almeida Syndrome Richieri Costa Orquizas Syndrome Richter's Syndrome Rickets Rickettsialpox Riddle Syndrome Rift Valley Fever Right Aortic Arch Right Atrial Isomerism Right Atrium Familial Dilatation Right Inferior Vena Cava Connecting to Left-Sided Atrium Right Pulmonary Artery, Anomalous Origin of, Familial Right Superior Vena Cava Connecting to Left-Sided Atrium Right Ventricle Hypoplasia Right Ventricular Hypoplasia, Isolated Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal Rigid Spine Muscular Dystrophy 1 Ring Chromosome 1 Ring Chromosome 10 Ring Chromosome 11 Ring Chromosome 12 Ring Chromosome 13 Ring Chromosome 14 Syndrome Ring Chromosome 15 Ring Chromosome 16 Ring Chromosome 17 Ring Chromosome 18 Ring Chromosome 19 Ring Chromosome 2 Ring Chromosome 20 Ring Chromosome 21 Ring Chromosome 22 Ring Chromosome 3 Ring Chromosome 4 Ring Chromosome 5 Ring Chromosome 6 Ring Chromosome 7 Ring Chromosome 8 Ring Chromosome 9 Ring Chromosome Y Syndrome Ring Dermoid of Cornea Ringed Hair Rippling Muscle Disease 1 Rippling Muscle Disease 2 Rippling Muscle Disease with Myasthenia Gravis Ritscher-Schinzel Syndrome Ritscher-Schinzel Syndrome 1 Ritscher-Schinzel Syndrome 2 Ritter's Disease Rnase T2-Deficient Leukoencephalopathy Roberts Syndrome Robinow-Like Syndrome Robinow Syndrome Robinow Syndrome, Autosomal Dominant 1 Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 3 Robinow Syndrome, Autosomal Recessive Robin Sequence with Cleft Mandible and Limb Anomalies Robin Sequence with Distinctive Facial Appearance and Brachydactyly Roch-Leri Mesosomatous Lipomatosis Rocky Mountain Spotted Fever Rodini Richieri Costa Syndrome Rodrigues Blindness Rohhad Roifman-Chitayat Syndrome Roifman Syndrome Rokitansky-Aschoff Sinuses of the Gallbladder Rokitansky Sequence Rolandic Epilepsy-Speech Dyspraxia Syndrome Rombo Syndrome Rommen Mueller Sybert Syndrome Rosai-Dorfman Disease Rosette-Forming Glioneuronal Tumor of Fourth Ventricule Rothmund-Thomson Syndrome Rothmund-Thomson Syndrome Type 1 Rothmund-Thomson Syndrome Type 2 Roussy-Levy Hereditary Areflexic Dystasia Rowley-Rosenberg Syndrome Roy Maroteaux Kremp Syndrome Rozin Hertz Goodman Syndrome Rrm2b-Related Mitochondrial Dna Depletion Syndrome Rubella Rubella Panencephalitis Rubinstein Taybi Like Syndrome Rubinstein-Taybi Syndrome 1 Rubinstein-Taybi Syndrome 2 Rud Syndrome Ruijs-Aalfs Syndrome Rumination Disorder Rutherfurd Syndrome Ruvalcaba Churesigaew Myhre Syndrome Ruvalcaba Syndrome Ruzicka Goerz Anton Syndrome Saal Bulas Syndrome Sabinas Brittle Hair Syndrome Saccharopinuria Sackey Sakati Aur Syndrome Sacral Agenesis with Vertebral Anomalies Sacral Defect with Anterior Meningocele Sacral Hemangiomas Multiple Congenital Abnormalities Sacral Meningocele Conotruncal Heart Defects Sacral Plexopathy Sacrococcygeal Dysgenesis Association Sacrococcygeal Teratoma Saethre-Chotzen Syndrome Sagliker Syndrome Saito Kuba Tsuruta Syndrome Sakati Syndrome Sakoda Complex Salcedo Syndrome Salih Myopathy Salivary Gland Adenoid Cystic Carcinoma Salivary Gland Adenoma, Pleomorphic Salivary Gland Cancer Salivary Gland Cancer, Adult Salivary Gland Cancer, Childhood Salivary Gland Type Cancer of the Breast Salla Disease Salt and Pepper Developmental Regression Syndrome Sammartino Decreccio Syndrome Samson Gardner Syndrome Samson Viljoen Syndrome Sanderson Fraser Syndrome Sandhaus Ben-Ami Syndrome Sandhoff Disease Sandifer Syndrome Santos Mateus Leal Syndrome Sapho Syndrome Sarcoidosis 1 Sarcoidosis 2 Sarcoidosis 3 Sarcoma, Synovial Sarcosinemia Sarcosporidioză Satb2-Associated Syndrome Satoyoshi Syndrome Saul Wilkes Stevenson Syndrome Say Barber Miller Syndrome Say Carpenter Syndrome Say-Field-Coldwell Syndrome Say Meyer Syndrome Say Syndrome Scalp Defects and Postaxial Polydactyly Scalp-Ear-Nipple Syndrome Scalp Syndrome Scaphocephaly, Maxillary Retrusion, and Mental Retardation Scapuloperoneal Myopathy, Myh7-Related Scapuloperoneal Myopathy, X-Linked Dominant Scapuloperoneal Spinal Muscular Atrophy Scapuloperoneal Syndrome, Neurogenic, Kaeser Type Scarf Syndrome Scarring in Glaucoma Filtration Surgical Procedures Scedosporiosis Schaaf-Yang Syndrome Schaap Taylor Baraitser Syndrome Schaefer Stein Oshman Syndrome Scheie Syndrome Scheuermann Disease Schilbach-Rott Syndrome Schimke Immunoosseous Dysplasia Schimke X-Linked Mental Retardation Syndrome Schimmelpenning-Feuerstein-Mims Syndrome Schindler Disease Schindler Disease, Type I Schinzel Giedion Syndrome Schisis Association Schistosoma Mansoni Infection, Susceptibility/ Schistosomiasis Schizencephaly Schizophrenia Schizophrenia 1 Schizophrenia 10 Schizophrenia 11 Schizophrenia 12 Schizophrenia 13 Schizophrenia 14 Schizophrenia 15 Schizophrenia 16 Schizophrenia 18 Schizophrenia 19 Schizophrenia 2 Schizophrenia 3 Schizophrenia 4 Schizophrenia 5 Schizophrenia 6 Schizophrenia 7 Schizophrenia 8 Schizophrenia 9 Schlegelberger Grote Syndrome Schmitt Gillenwater Kelly Syndrome Schneckenbecken Dysplasia Schnitzler Syndrome Schnyder Corneal Dystrophy Scholte Syndrome Schopf-Schulz-Passarge Syndrome Schrander-Stumpel Theunissen Hulsmans Syndrome Schuurs-Hoeijmakers Syndrome Schwartz Cohen-Addad Lambert Syndrome Schwartz-Jampel Syndrome, Type 1 Scleredema Scleritis Sclerocornea Sclerocornea, Autosomal Dominant Sclerocornea, Syndactyly, Ambiguous Genitalia Scleroderma, Familial Progressive Scleromyxedema Scleromyxedema Without Monoclonal Gammopathy Sclerosing Cholangitis Sclerosing Mucoepidermoid Carcinoma with Eosinophilia Sclerosing Perineurioma Sclerosteosis Sclerosteosis 1 Sclerosteosis 2 Scn1a-Related Seizure Disorders Scn2a Related Disorders Scn8a Encephalopathy Scoliosis Scoliosis, Arachnodactyly, and Blindness Scoliosis, Isolated 1 Scoliosis, Isolated 2 Scoliosis, Isolated 3 Scoliosis, Isolated 4 Scoliosis, Isolated 5 Scoliosis with Unilateral Unsegmented Bar Scorpion Envenomation Scott Bryant Graham Syndrome Scott Syndrome Sc Phocomelia Syndrome Scrub Typhus Sea-Blue Histiocyte Disease Seaver Cassidy Syndrome Sebaceous Gland Hyperplasia, Familial Presenile Seborrhea-Like Dermatitis with Psoriasiform Elements Secernentea Infections Seckel Like Syndrome Majoor-Krakauer Type Seckel Syndrome Seckel Syndrome 1 Seckel Syndrome 10 Seckel Syndrome 2 Seckel Syndrome 4 Seckel Syndrome 5 Seckel Syndrome 6 Seckel Syndrome 7 Seckel Syndrome 8 Seckel Syndrome 9 Secondary Acute Transverse Myelitis Secondary Adrenal Insufficiency Secondary Central Precocious Puberty Secondary Hypereosinophilic Syndrome Secondary Hypertrophic Osteoarthropathy Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion Secondary Intestinal Lymphangiectasia Secondary Non-Traumatic Avascular Necrosis Secondary Polyarteritis Nodosa Secondary Progressive Multiple Sclerosis Secondary Pulmonary Alveolar Proteinosis Secondary Pulmonary Hemosiderosis Secondary Sclerosing Cholangitis Secondary Short Bowel Syndrome Secondary Syphilis Secondary Syringomyelia Secondary Vitreoretinal Degeneration Sedoheptulokinase Deficiency Segawa Syndrome, Autosomal Recessive Segmental Odontomaxillary Dysplasia Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia Segmentation Syndrome 1 Seizure Disorder Seizures, Benign Familial Infantile, 1 Seizures, Benign Familial Infantile, 2 Seizures, Benign Familial Infantile, 3 Seizures, Benign Familial Infantile, 4 Seizures, Benign Familial Infantile, 5 Seizures, Benign Familial Neonatal, 1 Seizures, Benign Familial Neonatal, 2 Seizures, Benign Familial Neonatal, 3 Seizures, Benign Familial Neonatal, Autosomal Recessive Seizures Benign Familial Neonatal Recessive Form Seizures, Cortical Blindness, and Microcephaly Syndrome Seizures Mental Retardation Hair Dysplasia Seizures, Scoliosis, and Macrocephaly Syndrome Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Selection of Therapeutic Option in Colorectal Cancer Selective Igm Deficiency Disease Selenium Poisoning Self-Healing Papular Mucinosis Self-Improving Collodion Baby Selig Benacerraf Greene Syndrome Semantic Dementia Semicircular Canal Dehiscence Syndrome Semilobar Holoprosencephaly Semmekrot Haraldsson Weemaes Syndrome Sener Syndrome Sengers Syndrome Senior-Boichis Syndrome Senior-Loken Syndrome 1 Senior-Loken Syndrome 3 Senior-Loken Syndrome 4 Senior-Loken Syndrome 5 Senior-Loken Syndrome 6 Senior-Loken Syndrome 7 Senior-Loken Syndrome 8 Senior-Loken Syndrome 9 Sennetsu Fever Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis Sensory Neuropathy Type 1 Seow Najjar Syndrome Sepsis in Premature Infants Septate Vagina Septic Arthritis Septo-Optic Dysplasia Spectrum Septopreoptic Holoprosencephaly Sequeiros Sack Syndrome Seres-Santamaria Arimany Muniz Syndrome Serotonin Syndrome Serous or Mucinous Cystadenoma of Childhood Serpiginous Choroiditis Sertoli-Leydig Cell Tumor Setbp1 Disorder Severe Acute Respiratory Syndrome Severe Canavan Disease Severe Combined Immunodeficiency Severe Combined Immunodeficiency, Atypical Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation Severe Combined Immunodeficiency, X-Linked Severe Congenital Nemaline Myopathy Severe Congenital Neutropenia Severe Congenital Neutropenia Autosomal Dominant Severe Cutaneous Adverse Reaction Severe Early-Childhood-Onset Retinal Dystrophy Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency Severe Hemophilia a Severe Hemophilia B Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency Severe Infantile Axonal Neuropathy Severe Intellectual Disability and Progressive Spastic Paraplegia Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome Severe Lateral Tibial Bowing with Short Stature Severe Neurodevelopmental Disorder with Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract Severe Pre-Eclampsia Severe X-Linked Intellectual Disability, Gustavson Type Sex Cord-Gonadal Stromal Tumor Sezary's Disease Shaheen Syndrome Shapiro Syndrome Shaver's Disease Sheehan Syndrome Shigellosis Shith Filkins Syndrome Shone Complex Short Bowel Syndrome Short Broad Great Toe Macrocranium Short Fifth Metacarpals-Insulin Resistance Syndrome Short Limb Dwarf Edema Iris Coloboma Short Limb Dwarf Lethal Colavita Kozlowski Type Short Limbs Abnormal Face Congenital Heart Disease Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency Short Limbs Subluxed Knees Cleft Palate Short Qt Syndrome Short Qt Syndrome 1 Short Qt Syndrome 2 Short Qt Syndrome 3 Short Ribs Craniosynostosis Polysyndactyly Short-Rib Thoracic Dysplasia 12 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures Short Stature Contractures Hypotonia Short Stature Cranial Hyperostosis Hepatomegaly Short Stature, Cranial Hyperostosis, Hepatomegaly and Diabetes Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome Short Stature Deafness Neutrophil Dysfunction Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome Short Stature, Developmental Delay, and Congenital Heart Defects Short Stature Dysmorphic Face Pelvic Scapula Dysplasia Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies Short Stature, Idiopathic, X-Linked Short Stature Microcephaly Seizures Deafness Short Stature Monodactylous Ectrodactyly Cleft Palate Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly Short Stature Prognathism Short Femoral Necks Short Stature Robin Sequence Cleft Mandible Hand Anomalies Clubfoot Short Stature Syndrome, Brussels Type Short Stature Talipes Natal Teeth Short Stature Valvular Heart Disease Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome Short Stature Wormian Bones Dextrocardia Short Syndrome Short Tarsus with Absence of Lower Eyelashes Shoulder and Thorax Deformity Congenital Heart Disease Shoulder Girdle Defect Mental Retardation Familial Shprintzen-Goldberg Craniosynostosis Syndrome Shprintzen Omphalocele Syndrome Shwachman-Diamond Syndrome Shwartzman Phenomenon Sialadenitis Sialuria Sickle Beta Thalassemia Sickle Cell Anemia Sickle Cell Disease Associated with an Other Hemoglobin Anomaly Sickle Cell - Hemoglobin D Disease Sickle Delta Beta Thalassemia Sick Sinus Syndrome Sick Sinus Syndrome 1 Sick Sinus Syndrome 2 Sick Sinus Syndrome 3 Sideroblastic Anemia Sideroblastic Anemia Acquired Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Siderosis Siderosis of Eye Siegler Brewer Carey Syndrome Silengo Lerone Pelizza Syndrome Silent Pituitary Adenoma Silent Sinus Syndrome Silicosiderosis Silicosis Sillence Syndrome Silver-Russell Syndrome Silver-Russell Syndrome Due to 11p15 Microduplication Silver-Russell Syndrome Due to 7p11.2p13 Microduplication Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 Silver-Russell Syndrome Due to a Point Mutation Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 Silvery Hair Syndrome Simian B Virus Infection Simosa Craniofacial Syndrome Simple Cryoglobulinemia Simpson-Golabi-Behmel Syndrome Simpson-Golabi-Behmel Syndrome, Type 1 Simpson-Golabi-Behmel Syndrome, Type 2 Simultanagnosia Sin3a-Related Intellectual Disability Syndrome Sin3a-Related Intellectual Disability Syndrome Due to a Point Mutation Sinding-Larsen-Johansson Disease Singh Chhaparwal Dhanda Syndrome Single-Organ Polyarteritis Nodosa Singleton-Merten Syndrome Singleton-Merten Syndrome 1 Singleton-Merten Syndrome 2 Single Ventricular Heart Sinoatrial Node Dysfunction and Deafness Sino-Auricular Heart Block Sinonasal Undifferentiated Carcinoma Sinus Cancer Sinus Node Disease and Myopia Sirenomelia Sitosterolemia Situs Inversus Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas Six2-Related Frontonasal Dysplasia Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease Sjogren-Larsson-Like Syndrome Sjogren-Larsson Syndrome Sjogren Syndrome Skeletal Dysplasia Orofacial Anomalies Skeletal Dysplasias Skeletal Dysplasia, San Diego Type Skeletal-Extraskeletal Angiomatosis Skeleto Cardiac Syndrome with Thrombocytopenia Skin Cancer, Non Melanoma, Childhood Skin Creases, Congenital Symmetric Circumferential, 1 Skin Creases, Congenital Symmetric Circumferential, 2 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome Skin Fragility-Woolly Hair Syndrome Slavotinek Pike Mills Hurst Syndrome Slc35a2-Cdg Slc4a1-Associated Distal Renal Tubular Acidosis Sleeping Sickness Slipped Capital Femoral Epiphysis Slow-Channel Congenital Myasthenic Syndrome Slowed Nerve Conduction Velocity, Autosomal Dominant Slti Salem Syndrome Small Cell Cancer of the Lung Small Cell Carcinoma Small Cell Carcinoma of the Bladder Small Cell Lung Cancer, Adult Small Cell Lung Cancer, Childhood Small Intestinal Adenocarcinoma Small Intestine Cancer Small Intestine Cancer, Childhood Small Intestine Leiomyosarcoma Smallpox Smarca4-Deficient Sarcoma of Thorax Smith-Kingsmore Syndrome Smith-Lemli-Opitz Syndrome Smith-Magenis Syndrome Smith-Mccort Dysplasia 1 Smith-Mccort Dysplasia 2 Smouldering Systemic Mastocytosis Snakebite Envenomation Sneddon Syndrome Sodium Channelopathy-Related Small Fiber Neuropathy Soft Tissue Sarcoma Soft Tissue Sarcoma Childhood Sohval Soffer Syndrome Solar Urticaria Solid Pseudopapillary Carcinoma of the Pancreas Solitary Bone Cyst Solitary Median Maxillary Central Incisor Solitary Necrotic Nodule of the Liver Solitary Rectal Ulcer Syndrome Somatomammotropinoma Somatostatinoma Sonoda Syndrome Sorsby Fundus Dystrophy Sosby Syndrome Sotos Syndrome 1 Sotos Syndrome 2 Sotos Syndrome 3 Sparse Hair-Short Stature-Skin Anomalies Syndrome Spasmodic Dysphonia Spasmus Nutans Spastic Angina with Healthy Coronary Artery Spastic Ataxia Spastic Ataxia 1 Spastic Ataxia 1, Autosomal Dominant Spastic Ataxia 2 Spastic Ataxia 2, Autosomal Recessive Spastic Ataxia 3 Spastic Ataxia 3, Autosomal Recessive Spastic Ataxia 4 Spastic Ataxia 4, Autosomal Recessive Spastic Ataxia 5 Spastic Ataxia 5, Autosomal Recessive Spastic Ataxia 7 Spastic Ataxia 7, Autosomal Dominant Spastic Ataxia, Charlevoix-Saguenay Type Spastic Diplegia and Mental Retardation Spastic Diplegia Cerebral Palsy Spastic Hemiplegia Spasticity, Childhood-Onset, with Hyperglycinemia Spasticity Multiple Exostoses Spastic Monoplegia Spastic Paralysis, Infantile-Onset Ascending Spastic Paraparesis Spastic Paraparesis and Deafness Spastic Paraplegia 1 Spastic Paraplegia 10 Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11 Spastic Paraplegia 11, Autosomal Recessive Spastic Paraplegia 12 Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 13 Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 14 Spastic Paraplegia 14, Autosomal Recessive Spastic Paraplegia 15 Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 16 Spastic Paraplegia 16, X-Linked Spastic Paraplegia 17 Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 18 Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 19 Spastic Paraplegia 19, Autosomal Dominant Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 23 Spastic Paraplegia 24 Spastic Paraplegia 24, Autosomal Recessive Spastic Paraplegia 25 Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 26 Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive Spastic Paraplegia 29 Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 2, X-Linked Spastic Paraplegia 3 Spastic Paraplegia 30, Autosomal Recessive Spastic Paraplegia 31 Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 32 Spastic Paraplegia 32, Autosomal Recessive Spastic Paraplegia 33, Autosomal Dominant Spastic Paraplegia 34, X-Linked Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 38, Autosomal Dominant Spastic Paraplegia 39 Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 3a Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4 Spastic Paraplegia 41, Autosomal Dominant Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 45, Autosomal Recessive Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive Spastic Paraplegia 4, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive Spastic Paraplegia 51 Spastic Paraplegia 51, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive Spastic Paraplegia 5a Spastic Paraplegia 5a, Autosomal Recessive Spastic Paraplegia 5b Spastic Paraplegia 6 Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 8 Spastic Paraplegia 8, Autosomal Dominant Spastic Paraplegia 9 Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation Spastic Paraplegia and Psychomotor Retardation with or Without Seizures Spastic Paraplegia, Epilepsy, and Mental Retardation Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome Spastic Paraplegia Facial Cutaneous Lesions Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome Spastic Paraplegia, Optic Atrophy, and Neuropathy Spastic Paraplegia-Paget Disease of Bone Syndrome Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy Spastic Paraplegia with Neuropathy and Poikiloderma Spastic Paraplegia with Precocious Puberty Spastic Paresis, Glaucoma, and Mental Retardation Spastic Quadriplegia Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome Specific Antibody Deficiency Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease Spermatogenic Failure 1 Spermatogenic Failure 10 Spermatogenic Failure 11 Spermatogenic Failure 12 Spermatogenic Failure 13 Spermatogenic Failure 14 Spermatogenic Failure 15 Spermatogenic Failure 16 Spermatogenic Failure 17 Spermatogenic Failure 18 Spermatogenic Failure 19 Spermatogenic Failure 2 Spermatogenic Failure 20 Spermatogenic Failure 21 Spermatogenic Failure 22 Spermatogenic Failure 23 Spermatogenic Failure 3 Spermatogenic Failure 4 Spermatogenic Failure 5 Spermatogenic Failure 6 Spermatogenic Failure 7 Spermatogenic Failure 8 Spermatogenic Failure 9 Spermatogenic Failure, X-Linked, 1 Spermatogenic Failure, X-Linked, 2 Spermatogenic Failure, Y-Linked, 1 Spermatogenic Failure, Y-Linked, 2 Spherocytosis, Type 1 Spherocytosis, Type 2 Spherocytosis, Type 3 Spherocytosis, Type 4 Spherocytosis, Type 5 Sphingolipidosis Spigelian Hernia-Cryptorchidism Syndrome Spina Bifida Aperta Spina Bifida Hypospadias Spina Bifida Occulta Spinal and Bulbar Muscular Atrophy, X-Linked 1 Spinal Arachnoiditis Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome Spinal Bulbar Motor Neuropathy Spinal Cord Injury Spinal Dysostosis Type Anhalt Spinal Intradural Arachnoid Cysts Spinal Meningioma Spinal Muscular Atrophy Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 Spinal Muscular Atrophy, Distal, X-Linked 3 Spinal Muscular Atrophy, Jokela Type Spinal Muscular Atrophy, Late-Onset, Finkel Type Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Autosomal Dominant Spinal Muscular Atrophy, Ryukyuan Type Spinal Muscular Atrophy, Type I Spinal Muscular Atrophy, Type Ii Spinal Muscular Atrophy, Type Iii Spinal Muscular Atrophy, Type Iv Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy Spinal Muscular Atrophy with Respiratory Distress Type 2 Spinal Muscular Atrophy, X-Linked 2 Spinal Shock Spindle Cell Hemangioma Spine Rigid Cardiomyopathy Spinocerebellar Ataxia 1 Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17 Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 2 Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 29 Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 32 Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 40 Spinocerebellar Ataxia 41 Spinocerebellar Ataxia 42 Spinocerebellar Ataxia 43 Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45 Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 5 Spinocerebellar Ataxia 6 Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 8 Spinocerebellar Ataxia 9 Spinocerebellar Ataxia, Autosomal Recessive 1 Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23 Spinocerebellar Ataxia, Autosomal Recessive 24 Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26 Spinocerebellar Ataxia, Autosomal Recessive 3 Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia Autosomal Recessive 5 Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy Spinocerebellar Ataxia Type 16 Spinocerebellar Ataxia Type 19/22 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy Spinocerebellar Ataxia with Axonal Neuropathy Type 2 Spinocerebellar Ataxia with Dysmorphism Spinocerebellar Ataxia, X-Linked 1 Spinocerebellar Ataxia, X-Linked 2 Spinocerebellar Ataxia, X-Linked 3 Spinocerebellar Ataxia, X-Linked 4 Spinocerebellar Ataxia, X-Linked 5 Spinocerebellar Degeneration and Corneal Dystrophy Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia Spinocerebellar Degenerescence Book Type Spiradenoma Spirillary Rat-Bite Fever Spirochetes Disease Spirurida Infections Spitz Nevus Spleen Cancer Splenic Diffuse Red Pulp Small B-Cell Lymphoma Splenic Infarction Splenic Marginal Zone Lymphoma Splenogonadal Fusion Limb Defects Micrognatia Splenogonadal Fusion with Limb Defects and Micrognathia Splenomegaly Splenomegaly, Cytopenia, and Vision Loss Split Foot Split Foot, Bilateral Split-Foot Deformity with Mandibulofacial Dysostosis Split-Foot Malformation with Mesoaxial Polydactyly Split Foot, Unilateral Split Hand Split Hand, Bilateral Split Hand-Foot Malformation Split-Hand/foot Malformation 1 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive Split-Hand/foot Malformation 2 Split-Hand/foot Malformation 3 Split-Hand/foot Malformation 4 Split-Hand/foot Malformation 5 Split-Hand/foot Malformation 6 Split-Hand/foot Malformation with Long Bone Deficiency 1 Split Hand/foot Malformation X-Linked Split Hand-Split Foot Malformation Split Hand Split Foot Malformation Autosomal Recessive Split Hand Split Foot Nystagmus Split Hand, Unilateral Split Hand Urinary Anomalies Spina Bifida Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects Split Spinal Cord Malformation Spondylarthropathy Spondyloarthropathy Spondyloarthropathy 1 Spondyloarthropathy 2 Spondyloarthropathy 3 Spondylocamptodactyly Spondylocarpotarsal Synostosis Syndrome Spondylocostal Dysostosis 1 Spondylocostal Dysostosis 1, Autosomal Recessive Spondylocostal Dysostosis 2 Spondylocostal Dysostosis 2, Autosomal Recessive Spondylocostal Dysostosis 3 Spondylocostal Dysostosis 3, Autosomal Recessive Spondylocostal Dysostosis 4 Spondylocostal Dysostosis 4, Autosomal Recessive Spondylocostal Dysostosis 5 Spondylocostal Dysostosis 6, Autosomal Recessive Spondylocostal Dysostosis, Autosomal Recessive Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies Spondylodysplastic Ehlers-Danlos Syndrome Spondyloenchondrodysplasia Spondyloepimetaphyseal Dysplasia, Aggrecan Type Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type Spondyloepimetaphyseal Dysplasia, Genevieve Type Spondyloepimetaphyseal Dysplasia, Irapa Type Spondyloepimetaphyseal Dysplasia, Isidor Type Spondyloepimetaphyseal Dysplasia Joint Laxity Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related Spondyloepimetaphyseal Dysplasia, Micromelic Spondyloepimetaphyseal Dysplasia, Missouri Type Spondyloepimetaphyseal Dysplasia, Shohat Type Spondyloepimetaphyseal Dysplasia, Sponastrime Type Spondyloepimetaphyseal Dysplasia, Strudwick Type Spondyloepimetaphyseal Dysplasia with Abnormal Dentition Spondyloepimetaphyseal Dysplasia with Hypotrichosis Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 Spondyloepimetaphyseal Dysplasia with Multiple Dislocations Spondyloepimetaphyseal Dysplasia, X-Linked Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech Spondyloepiphyseal Dysplasia Congenita Spondyloepiphyseal Dysplasia, Kimberley Type Spondyloepiphyseal Dysplasia, Maroteaux Type Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness Spondyloepiphyseal Dysplasia, Stanescu Type Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive Spondyloepiphyseal Dysplasia Tarda with Mental Retardation Spondyloepiphyseal Dysplasia Tarda, X-Linked Spondyloepiphyseal Dysplasia with Atlantoaxial Instability Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Spondylometaphyseal Dysplasia, Algerian Type Spondylometaphyseal Dysplasia, Axial Spondylometaphyseal Dysplasia, Corner Fracture Type Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type Spondylometaphyseal Dysplasia, East African Type Spondylometaphyseal Dysplasia, Kozlowski Type Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type Spondylometaphyseal Dysplasia, Sedaghatian Type Spondylometaphyseal Dysplasia, Type A4 Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta Spondylometaphyseal Dysplasia, X-Linked Spondyloocular Syndrome Spondyloperipheral Dysplasia Spondylospinal Thoracic Dysostosis Spontaneous Intracranial Hypotension Sporadic Adult-Onset Ataxia of Unknown Etiology Sporadic Breast Cancer Sporadic Fetal Brain Disruption Sequence Sporadic Hemiplegic Migraine Sporadic Hyperekplexia Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Collapsing Glomerulopathy Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes Sporadic Infantile Bilateral Striatal Necrosis Sporadic Pheochromocytoma Sporadic Secreting Paraganglioma Sporotrichosis Spotted Fever Spranger Schinzel Myers Syndrome Sprengel Deformity Squamous Cell Carcinoma Squamous Cell Carcinoma, Head and Neck Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract Squamous Cell Carcinoma of Liver and Intrahepatic Biliary Tract Squamous Cell Carcinoma of the Corpus Uteri Squamous Cell Carcinoma of the Hypopharynx Squamous Cell Carcinoma of the Larynx Squamous Cell Carcinoma of the Nasal Cavity and Paranasal Sinuses Squamous Cell Carcinoma of the Oral Tongue Squamous Cell Carcinoma of the Oropharynx Squamous Cell Carcinoma of the Pancreas Squamous Cell Carcinoma of the Salivary Glands Squamous Cell Carcinoma of the Small Intestine Ssr4-Cdg Stachybotrys Chartarum Stalker Chitayat Syndrome Stampe Sorensen Syndrome St Anthony's Fire Stapes Ankylosis with Broad Thumbs and Toes Staphylococcal Necrotizing Pneumonia Staphylococcal Scarlet Fever Staphylococcal Toxic Shock Syndrome Staphyloenterotoxemia Stargardt Disease Stargardt Disease 1 Stargardt Disease 3 Stargardt Disease 4 Startle Epilepsy Statin Toxicity Status Epilepticus Steatocystoma Multiplex Steatocystoma Multiplex with Natal Teeth Steel Syndrome Steinfeld Syndrome Stenosis or Atresia of the Coronary Ostium Stenotrophomonas Maltophilia Infection Sterility Due to Immotile Flagella Sternal Cleft Sternal Cyst Vascular Anomalies Sternal Malformation Vascular Dysplasia Associatio Steroid Dehydrogenase Deficiency Dental Anomalies Stickler Syndrome Stickler Syndrome, Type 3 Stickler Syndrome, Type I Stickler Syndrome, Type Ii Stickler Syndrome, Type I, Nonsyndromic Ocular Stickler Syndrome, Type Iv Stickler Syndrome, Type V Sticky Platelet Syndrome Stiff-Person Syndrome Stiff Skin Syndrome Sting-Associated Vasculopathy, Infantile-Onset Sting-Associated Vasculopathy with Onset in Infancy St. Louis Encephalitis Stocco Dos Santos Syndrome Stocco Dos Santos X-Linked Mental Retardation Syndrome Stoelinga De Koomen Davis Syndrome Stoll Alembik Finck Syndrome Stomach Cancer, Childhood Stomach Carcinoma in Situ Stomatin-Deficient Cryohydrocytosis with Neurologic Defects Stomatocytosis I Stomatocytosis Ii Storage Pool Platelet Disease Stormorken Syndrome Storm Syndrome Straddling and/or Overriding Mitral Valve Straddling or Overriding Tricuspid Valve Stratton-Parker Syndrome Streptococcal Group a Invasive Disease Streptococcal Group B Invasive Disease Streptococcal Toxic-Shock Syndrome Stress Polycythemia Striatal Degeneration, Autosomal Dominant 1 Striatal Degeneration, Autosomal Dominant 2 Striate Palmoplantar Keratoderma Striatonigral Degeneration Striatonigral Degeneration, Childhood-Onset Striatonigral Degeneration, Infantile Stromal Keratitis Stromme Syndrome Strongyloidiasis Stt3a-Cdg and Stt3b-Cdg Sturge-Weber Syndrome Stuve-Wiedemann Syndrome Stxbp1 Encephalopathy with Epilepsy Subacute Cerebellar Degeneration Subacute Cutaneous Lupus Erythematosus Subacute Glomerulonephritis Subacute Inflammatory Demyelinating Polyneuropathy Subaortic Course of Innominate Vein Subaortic Stenosis, Membranous Subaortic Stenosis--Short Stature Syndrome Subcorneal Pustular Dermatosis Subcortical Band Heterotopia Sub-Cortical Nodular Heterotopia Subcutaneous Panniculitis-Like T-Cell Lymphoma Subependymal Giant Cell Astrocytoma Subependymal Nodular Heterotopia Subependymoma Subleukemic Leukemia Submucosal Cleft Palate Subpulmonary Stenosis Subvalvular Aortic Stenosis Succinic Acidemia Lactic Acidosis Congenital Succinic Semialdehyde Dehydrogenase Deficiency Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency Sucrase-Isomaltase Deficiency, Congenital Sudanophilic Cerebral Sclerosis Sudden Arrhythmia Death Syndrome Sudden Infant Death Syndrome Sudden Infant Death with Dysgenesis of the Testes Syndrome Sudden Sensorineural Hearing Loss Sugarman Brachydactyly Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Sulfite Oxidase Deficiency, Isolated Summitt Syndrome Sunct Headache Superficial Siderosis Superficial Siderosis of the Central Nervous System Superficial Spreading Melanoma Superior Limbic Keratoconjunctivitis Superior Mesenteric Artery Syndrome Superior Semicircular Canal Dehiscence Supernumerary Breasts Supernumerary Nostril Suprabulbar Paresis, Congenital Supraglottic Laryngeal Cancer Supranuclear Ocular Palsy Supranuclear Palsy, Progressive, 1 Supranuclear Palsy, Progressive, 2 Supranuclear Palsy, Progressive, 3 Supratentorial Primitive Neuroectodermal Tumor Supratentorial Primitive Neuroectodermal Tumors, Childhood Supratip Dysplasia Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas Supravalvular Aortic Stenosis Surfactant Metabolism Dysfunction, Pulmonary, 1 Surfactant Metabolism Dysfunction, Pulmonary, 2 Surfactant Metabolism Dysfunction, Pulmonary, 3 Surfactant Metabolism Dysfunction, Pulmonary, 4 Surfactant Metabolism Dysfunction, Pulmonary, 5 Susac Syndrome Susceptibility/resistance to Hiv Infection Susceptibility to Adverse Reaction Due to Mercaptopurine Susceptibility to Localized Juvenile Periodontitis Sutton Disease 2 Sveinsson Chorioretinal Atrophy Swyer-James Syndrome Sydenham Chorea Symbrachydactyly of Hand and Foot, Bilateral Symbrachydactyly of Hand and Foot, Unilateral Symbrachydactyly of Hands and Feet Symmastia Symmetrical Thalamic Calcifications Sympathetic Ophthalmia Symphalangism Brachydactyly Craniosynostosis Symphalangism, Distal Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch Symphalangism, Proximal, 1a Symphalangism, Proximal, 1b Symphalangism Short Stature Accessory Testis Symphalangism with Multiple Anomalies of Hands and Feet Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers Symptomatic Form of Hemophilia a in Female Carriers Symptomatic Form of Hemophilia B in Female Carriers Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers Syncamptodactyly Scoliosis Syncope, Familial Vasovagal Syndactyly Ectodermal Dysplasia Cleft Lip Palate Hand Foot Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction Syndactyly-Polydactyly-Earlobe Syndrome Syndactyly Type 6 Syndactyly, Type Iii Syndactyly, Type Iv Syndactyly, Type V Syndrome of Inappropriate Antidiuretic Hormone Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Defect Syndromic X-Linked Intellectual Disability Syndromic X-Linked Intellectual Disability 12 Syndromic X-Linked Intellectual Disability 14 Syndromic X-Linked Intellectual Disability 7 Syndromic X-Linked Intellectual Disability Snyder Type Syndromic X-Linked Intellectual Disability Type 10 Syngap1-Related Non-Syndromic Intellectual Disability Syngnathia Syngnathia Cleft Palate Syngnathia Multiple Anomalies Synostoses, Tarsal, Carpal, and Digital Synostosis of Talus and Calcaneus Short Stature Synovial Chondromatosis Synovial Chondromatosis, Familial, with Dwarfism Synovitis Synovium Cancer Synpolydactyly Synpolydactyly 1 Synpolydactyly 2 Synpolydactyly 3 Syphilis Syphilitic Aseptic Meningitis Syphilitic Myelopathy Syringobulbia Syringocystadenoma Papilliferum Syringoma Syringomas, Multiple Syringomas Natal Teeth Oligodontia Syringomelia Hyperkeratosis Syringomyelia Systemic Capillary Leak Syndrome Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood Systemic Lupus Erythematosus Systemic Lupus Erythematosus 1 Systemic Lupus Erythematosus 10 Systemic Lupus Erythematosus 11 Systemic Lupus Erythematosus 12 Systemic Lupus Erythematosus 13 Systemic Lupus Erythematosus 14 Systemic Lupus Erythematosus 15 Systemic Lupus Erythematosus 16 Systemic Lupus Erythematosus 2 Systemic Lupus Erythematosus 3 Systemic Lupus Erythematosus 4 Systemic Lupus Erythematosus 5 Systemic Lupus Erythematosus 6 Systemic Lupus Erythematosus 7 Systemic Lupus Erythematosus 8 Systemic Lupus Erythematosus 9 Systemic Mastocytosis Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease Systemic Monochloroacetate Poisoning Systemic Necrotizing Angitis Systemic Onset Juvenile Idiopathic Arthritis Systemic Polyarteritis Nodosa Systemic Scleroderma Tabatznik Syndrome Tacrolimus Dose Selection Tafro Syndrome Takayasu Arteritis Takenouchi-Kosaki Syndrome Talipes Equinovarus Tall Stature-Intellectual Disability-Renal Anomalies Syndrome Talonavicular Coalition Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals Tang Hsi Ryu Syndrome Tangier Disease Tapetoretinal Degeneration with Ataxia Tardive Dyskinesia Tarlov Cysts Tarp Syndrome Tarsal-Carpal Coalition Syndrome Tarsal Kink Syndrome Tarsal Tunnel Syndrome Tatton-Brown-Rahman Syndrome Taurodontism Taurodontism, Microdontia, and Dens Invaginatus Tau Syndrome Tay-Sachs Disease Tay-Sachs Disease, B1 Variant Tay-Sachs Disease, B Variant, Adult Form Tay-Sachs Disease, B Variant, Infantile Form Tay-Sachs Disease, B Variant, Juvenile Form T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta T-Cell/histiocyte Rich Large B Cell Lymphoma T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy T Cell Immunodeficiency Primary T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations T-Cell Immunodeficiency with Epidermodysplasia Verruciformis T-Cell Leukemia T-Cell Lymphoma 1a T-Cell Prolymphocytic Leukemia T-Cell Receptor-Alpha/beta Deficiency Teebi Kaurah Syndrome Teebi Naguib Al Awadi Syndrome Teebi-Shaltout Syndrome Teeth, Congenital Absence of, with Taurodontia and Sparse Hair Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum Telangiectasia, Hereditary Benign Telangiectasia, Hereditary Hemorrhagic, Type 1 Telangiectasia, Hereditary Hemorrhagic, Type 2 Telangiectasia, Hereditary Hemorrhagic, Type 3 Telangiectasia, Hereditary Hemorrhagic, Type 4 Telangiectasia, Hereditary Hemorrhagic, Type 5 Telangiectasia Macularis Eruptiva Perstans Telangiectasia Macularis Eruptive Perstans Telfer Sugar Jaeger Syndrome Tempi Syndrome Temple-Baraitser Syndrome Temple Syndrome Temporal Arteritis Temporal Epilepsy, Familial Temporomandibular Ankylosis Temtamy Preaxial Brachydactyly Syndrome Temtamy Syndrome Tendons, Extensor, of Fingers, Anomalous Insertion of Teratoma with Malignant Transformation Terminal Osseous Dysplasia Tessier Number 5 Facial Cleft Tessier Number 6 Facial Cleft Testicular Cancer Testicular Cancer, Childhood Testicular Germ Cell Tumor Testicular Germ Cell Tumor 1 Testicular Regression Syndrome Testicular Seminoma Testicular Yolk Sac Tumor Testotoxicosis Tetanus Tethered Cord Syndrome Tetraamelia Multiple Malformations X-Linked Tetraamelia Syndrome, Autosomal Recessive Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities Tetraamelia with Pulmonary Hypoplasia Tetragametic Chimerism Tetrahydrobiopterin Deficiency Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria Tetralogy of Fallot Tetralogy of Fallot and Glaucoma Tetralogy of Fallot Syndrome, Autosomal Recessive Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities Tetramelic Monodactyly Tetraploidy Tetrasomy 15q26 Tetrasomy 18p Tetrasomy 21 Tetrasomy 5p Tetrasomy 9p Tetrasomy X Thai Symphalangism Syndrome Thakker-Donnai Syndrome Thalamic Degeneration Symmetrical Infantile Thalamic Degeneration, Symmetric Infantile Thalassemia Thanatophoric Dysplasia, Type I Thanatophoric Dysplasia, Type Ii Theca Steroid-Producing Cell Malignant Tumor of Ovary, Not Further Specified Theodor Hertz Goodman Syndrome Therapy Related Acute Myeloid Leukemia and Myelodysplastic Syndrome Thiamine Metabolism Dysfunction Syndrome 2 Thiamine Metabolism Dysfunction Syndrome 4 Thiamine Metabolism Dysfunction Syndrome 5 Thiamine-Responsive Megaloblastic Anemia Syndrome Thickened Earlobes with Conductive Deafness from Incus-Stapes Abnormalities Thiemann Disease Thinking Seizures Thin Ribs-Tubular Bones-Dysmorphism Syndrome Thiopurine S Methyltranferase Deficiency Third Branchial Cleft Anomaly Third Ventricle Chordoid Glioma Thompson Baraitser Syndrome Thoracic Celosomia Thoracic Dysplasia-Hydrocephalus Syndrome Thoracic Outlet Syndrome Thoraco Abdominal Enteric Duplication Thoracoabdominal Syndrome Thoracolaryngopelvic Dysplasia Thoraco Limb Dysplasia Rivera Type Thoracolumbosacral Spina Bifida Aperta Thoracolumbosacral Spina Bifida Cystica Thoracomelic Dysplasia Thoracopelvic Dysostosis Three M Syndrome 1 Three M Syndrome 2 Three M Syndrome 3 Thrombasthenia Thrombocythemia 1 Thrombocythemia 2 Thrombocythemia 3 Thrombocythemia with Distal Limb Defects Thrombocytopenia Thrombocytopenia 1 Thrombocytopenia 2 Thrombocytopenia 3 Thrombocytopenia 4 Thrombocytopenia 5 Thrombocytopenia 6 Thrombocytopenia-Absent Radius Syndrome Thrombocytopenia Cerebellar Hypoplasia Short Stature Thrombocytopenia, Cyclic Thrombocytopenia Due to Platelet Alloimmunization Thrombocytopenia, Paris-Trousseau Type Thrombocytopenia Robin Sequence Thrombocytopenia with Beta-Thalassemia, X-Linked Thrombocytopenia with Elevated Serum Iga and Renal Disease Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia Thrombocytopenic Purpura, Autoimmune Thrombomodulin Anomalies, Familial Thrombophilia Thrombophilia Due to Activated Protein C Resistance Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency Thrombophilia Due to Protein C Deficiency, Autosomal Recessive Thrombophilia Due to Thrombin Defect Thrombophilia Due to Thrombomodulin Defect Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator Thrombotic Thrombocytopenic Purpura Thrombotic Thrombocytopenic Purpura, Acquired Thrombotic Thrombocytopenic Purpura, Congenital Thumb Absent Short Stature Immune Deficiency Thumb Agenesis, Short Stature, and Immunodeficiency Thumb Deformity Thumb Deformity, Alopecia, Pigmentation Anomaly Thumb Deformity and Alopecia Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness Thumbs, Congenital Clasped Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay Thumb Stiff Brachydactyly Mental Retardation Thunderclap Headache Thymic Epithelial Tumor Thymic Hyperplasia Thymic Neuroendocrine Carcinoma Thymic Neuroendocrine Tumor Thymic-Renal-Anal-Lung Dysplasia Thymoma Thymoma, Childhood Thymoma, Familial Thymoma Type a Thymoma Type Ab Thymoma Type B Thymus Cancer Thyrocerebral-Retinal Syndrome Thyrocerebroretinal Syndrome Thyroglossal Duct Cyst, Familial Thyroid Cancer, Anaplastic Thyroid Cancer, Childhood Thyroid Cancer, Nonmedullary, 1 Thyroid Cancer, Nonmedullary, 2 Thyroid Cancer, Nonmedullary, 3 Thyroid Cancer, Nonmedullary, 4 Thyroid Cancer, Nonmedullary, 5 Thyroid Carcinoma, Familial Medullary Thyroid Carcinoma, Hurthle Cell Thyroid Carcinoma, Nonmedullary, with or Without Cell Oxyphilia Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia Thyroid Dyshormonogenesis 1 Thyroid Dyshormonogenesis 2a Thyroid Dyshormonogenesis 3 Thyroid Dyshormonogenesis 4 Thyroid Dyshormonogenesis 5 Thyroid Dyshormonogenesis 6 Thyroid Ectopia Thyroid Hormone Metabolism, Abnormal Thyroid Hormone Plasma Membrane Transport Defect Thyroid Hormone Resistance, Generalized, Autosomal Dominant Thyroid Hormone Resistance, Generalized, Autosomal Recessive Thyroid Hormone Resistance, Selective Pituitary Thyroid Lymphoma Thyrotoxic Periodic Paralysis Thyrotoxic Periodic Paralysis 1 Thyrotoxic Periodic Paralysis 2 Thyrotoxic Periodic Paralysis 3 Thyrotropin-Releasing Hormone Deficiency Tièche-Jadassohn Nevus Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies Tibia Absent Polydactyly Arachnoid Cyst Tibiae Bowed Radial Anomalies Osteopenia Fracture Tibia, Hypoplasia or Aplasia of, with Polydactyly Tibial Aplasia Ectrodactyly Hydrocephalus Tibial Aplasia-Ectrodactyly Syndrome Tibial Hemimelia Tibial Hemimelia, Bilateral Tibial Hemimelia Cleft Lip Palate Tibial Hemimelia, Unilateral Tibial Muscular Dystrophy, Tardive Tibio-Fibular Synostosis Tick-Borne Encephalitis Tick Paralysis Tietz Albinism-Deafness Syndrome Tiglic Acidemia Timothy Syndrome Tmem70 Defect Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Togaviridae Disease Tollner Horst Manzke Syndrome Tolosa-Hunt Syndrome Tongue Cancer Tonoki Syndrome Tooth Agenesis Torch Syndrome Torsade De Pointes, Short-Coupled Variant Torsion Dystonia 17 Torsion Dystonia 2 Torsion Dystonia 4 Torsion Dystonia with Onset in Infancy Torticollis Torticollis, Familial Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia Total Anomalous Pulmonary Venous Return 1 Total Internal Ophthalmoplegia Total Spina Bifida Aperta Total Spina Bifida Cystica Townes-Brocks Syndrome Townes-Brocks Syndrome 1 Townes-Brocks Syndrome 2 Toxic Encephalopathy Toxicity or Absent Response to Clozapine Toxic Maculopathy Toxic Maculopathy Due to Antimalarial Drugs Toxic Oil Syndrome Toxin-Mediated Infectious Botulism Toxocariasis Toxoplasmoză Trabecular Myopathy Tracheal Agenesis Tracheal Stenosis Tracheobronchial Stenosis, Congenital Tracheobronchomalacia Tracheobronchomegaly Tracheobronchopathia Osteoplastica Tracheoesophageal Fistula Tracheoesophageal Fistula Symphalangism Tracheoesophageal Fistula with or Without Esophageal Atresia Tracheomalacia Tracheopathia Osteoplastica Tracheophageal Fistula Hypospadias Trachoma Tranebjaerg Svejgaard Syndrome Transaldolase Deficiency Transcobalamin I Deficiency Transcobalamin Ii Deficiency Transient Bullous Dermolysis of the Newborn Transient Erythroblastopenia of Childhood Transient Global Amnesia Transient Hyperammonemia of the Newborn Transient Hypogammaglobulinemia Transient Hypogammaglobulinemia of Infancy Transient Neonatal Multiple Acyl-Coa Dehydrogenase Deficiency Transient Neonatal Myasthenia Gravis Transient Pseudohypoaldosteronism Transient Tyrosinemia of the Newborn Transitional Cell Cancer of the Renal Pelvis and Ureter Transitional Cell Carcinoma Transitional Cell Carcinoma of the Corpus Uteri Transposition of the Great Arteries Transposition of the Great Arteries, Dextro-Looped 1 Transposition of the Great Arteries, Dextro-Looped 3 Transverse Limb Deficiency Hemangioma Transverse Myelitis Transverse Vaginal Septum Traumatic Avascular Necrosis Treacher Collins Syndrome 1 Treacher Collins Syndrome 2 Treacher Collins Syndrome 3 Trehalase Deficiency Tremor Tremor, Hereditary Essential, 1 Tremor, Hereditary Essential, 2 Tremor, Hereditary Essential, 3 Tremor, Hereditary Essential, 4 Tremor, Hereditary Essential, 5 Tremor, Nystagmus, and Duodenal Ulcer Trench Fever Treponema Infection Trichinosis Trichodental Dysplasia Trichodental Syndrome Trichodentoosseous Syndrome Tricho-Dento-Osseous Syndrome 1 Trichodermal Syndrome-Intellectual Disability Syndrome Trichodysplasia-Amelogenesis Imperfecta Syndrome Trichodysplasia-Xeroderma Trichoepithelioma, Multiple Familial, 1 Trichoepithelioma, Multiple Familial, 2 Trichofolliculoma Trichohepatoenteric Syndrome 1 Trichohepatoenteric Syndrome 2 Trichomalacia Trichomegaly Trichomegaly with Intellectual Disability, Dwarfism and Pigmentary Degeneration of Retina Trichoodontoonychial Dysplasia Trichoodontoonychial Dysplasia with Bone Deficiency Tricho Odonto Onycho Dermal Syndrome Tricho Odonto Onychodysplasia Syndactyly Dominant Type Tricho Onychic Dysplasia Tricho Onycho Hypohidrotic Dysplasia Tricho Retino Dento Digital Syndrome Trichorhinophalangeal Syndrome Trichorhinophalangeal Syndrome Type 1 and 3 Trichorhinophalangeal Syndrome, Type I Trichorhinophalangeal Syndrome, Type Ii Trichorhinophalangeal Syndrome, Type Iii Trichoscyphodysplasia Trichostasis Spinulosa Trichothiodystrophy 1, Photosensitive Trichothiodystrophy 2, Photosensitive Trichothiodystrophy 3, Photosensitive Trichotillomania Trichuriasis Tricuspid Atresia Tricuspid Valve Agenesis Tricuspid Valve Prolapse Trigeminal Neuralgia Trigeminal Trophic Syndrome Trigger Thumb Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet Trigonocephaly-Broad Thumbs Syndrome Trigonocephaly with Short Stature and Developmental Delay Trigonomacrocephaly Tibial Defect Polydactyly Trihydroxycholestanoylcoa Oxidase Isolated Deficiency Trimethylaminuria Triopia Triosephosphate Isomerase Deficiency Triphalangeal Thumb, Nonopposable Triphalangeal Thumbs and Dislocation of Patella Triphalangeal Thumbs with Brachyectrodactyly Triple X Syndrome Triploidy Trisomy 11 Mosaicism Trisomy 12 Mosaicism Trisomy 17 Mosaicism Trisomy 18-Like Syndrome Trisomy 1q Trisomy 22 Trisomy 2 Mosaicism Trisomy 3 Mosaicism Tritanopia Trochlea of the Humerus, Aplasia of Trochlear Dysplasia Trochleitis Tropical Calcific Pancreatitis Tropical Endomyocardial Fibrosis Tropical Sprue Trueb Burg Bottani Syndrome True Unicornuate Uterus Trypanosomiasis, Human East-African Trypanosomiasis, Human West-African Tryptophanuria with Dwarfism Tsh Producing Pituitary Tumor Tsukahara Azuno Kajii Syndrome Tuberculous Meningitis Tuberculous Uveitis Tuberous Sclerosis Tuberous Sclerosis 1 Tuberous Sclerosis 2 Tubular Duplication of the Esophagus Tubular Renal Disease-Cardiomyopathy Syndrome Tubulinopathy-Associated Dysgyria Tubulocystic Renal Cell Carcinoma Tubulointerstitial Nephritis with Uveitis Tucker Syndrome Tufted Hair Folliculitis Tukel Syndrome Tularemia Tumefactive Multiple Sclerosis Tumoral Calcinosis, Hyperphosphatemic, Familial Tumoral Calcinosis, Normophosphatemic, Familial Tumor of Cranial and Spinal Nerves Tumor Predisposition Syndrome Tungiasis Tunglang Savage Bellman Syndrome Tunnel Subaortic Stenosis Turner Syndrome Turner Syndrome Due to Structural X Chromosome Anomalies Twin-to-Twin Transfusion Syndrome Tylosis with Esophageal Cancer Type C Thymoma Type I Ehlers-Danlos Syndrome Type Ii Mixed Cryoglobulinemia Typhoid Fever Typical Congenital Nemaline Myopathy Typical Urticaria Pigmentosa Tyrosinemia Tyrosinemia, Type I Tyrosinemia, Type Ii Tyrosinemia, Type Iii Tyrosine-Oxidase Temporary Deficiency Tyshchenko Syndrome Uhl Anomaly Ulcerative Proctitis Ulerythema Ophryogenesis Ullrich Congenital Muscular Dystrophy 1 Ullrich Congenital Muscular Dystrophy 2 Ulna and Fibula, Absence of, with Severe Limb Deficiency Ulna and Fibula, Hypoplasia of Ulna Hypoplasia-Intellectual Disability Syndrome Ulna Metaphyseal Dysplasia Syndrome Ulnar/fibular Ray Defect and Brachydactyly Ulnar Hemimelia Ulnar Hemimelia, Bilateral Ulnar Hemimelia, Unilateral Ulnar Hypoplasia Ulnar Hypoplasia with Lobster-Claw Deformity of Feet Ulnar Hypoplasia with Mental Retardation Ulnar-Mammary Syndrome Umbilical Cord Ulceration and Intestinal Atresia Umbilicus, Familial Flat Unclassified Acute Myeloid Leukemia Unclassified Intestinal Pseudoobstruction Unclassified Myelodysplastic/myeloproliferative Disease Unclassified Myelodysplastic Syndrome Unclassified Vasculitis Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly Uncombable Hair Syndrome 1 Uncombable Hair Syndrome 2 Uncombable Hair Syndrome 3 Undetermined Colitis Undetermined Early-Onset Epileptic Encephalopathy Undifferentiated Carcinoma of Esophagus Undifferentiated Carcinoma of Liver and Intrahepatic Biliary Tract Undifferentiated Carcinoma of Stomach Undifferentiated Carcinoma of the Corpus Uteri Undifferentiated Connective Tissue Disease Undifferentiated Embryonal Sarcoma of the Liver Undifferentiated Pleomorphic Sarcoma Unexplained Long-Lasting Fever/inflammatory Syndrome Unicentric Castleman Disease Unilateral Absence of a Pulmonary Artery Unilateral Congenital Megacalycosis Unilateral Focal Polymicrogyria Unilateral Hemispheric Polymicrogyria Unilateral Multicystic Dysplastic Kidney Unilateral Polymicrogyria Uniparental Disomy of 6 Uniparental Disomy of Chromosome 11 Uniparental Disomy of Chromosome 2 Univentricular Heart Univentricular Heart with Single Atrio-Ventricular Valve Unna-Thost Palmoplantar Keratoderma Unspecified Juvenile Idiopathic Arthritis Unstable Hemoglobin Disease Unverricht-Lundborg Syndrome Upington Disease Upper Limb Hypertrophy Upper Thoracic Spina Bifida Aperta Upper Thoracic Spina Bifida Cystica Urachal Adenocarcinoma Urachal Cancer Urachal Cyst Urachal Diverticulum Urachal Sinus Urea Cycle Disorder Uremic Pruritus Urethral Benign Neoplasm Urethral Cancer Urethral Obstruction Sequence Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to Urocanase Deficiency Urofacial Syndrome 1 Urofacial Syndrome 2 Urogenital Adysplasia Uropathy Distal Obstructive Polydactyly Urticaria, Aquagenic Usher Syndrome Usher Syndrome Type 2 Usher Syndrome, Type 2b Usher Syndrome, Type I Usher Syndrome, Type Ic Usher Syndrome, Type Id Usher Syndrome, Type if Usher Syndrome, Type Ig Usher Syndrome, Type Ih Usher Syndrome, Type Iia Usher Syndrome, Type Iic Usher Syndrome, Type Iid Usher Syndrome, Type Iiia Usher Syndrome, Type Iiib Usher Syndrome, Type Ij Usher Syndrome, Type Ik Uterine Carcinosarcoma Uterine Cervical Aplasia and Agenesis Uterine Hypoplasia Uterine Sarcoma Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis Uterus Leiomyosarcoma Uveal Coloboma-Cleft Lip and Palate-Intellectual Disability Uveal Diseases Uveitis Uv-Sensitive Syndrome Uv-Sensitive Syndrome 1 Uv-Sensitive Syndrome 2 Uv-Sensitive Syndrome 3 Uvula, Bifid Vacterl Association Vacterl Association with Hydrocephaly, X-Linked Vacterl Hydrocephaly Vacterl with Hydrocephalus Vagina, Absence of Vaginal Atresia Vaginal Benign Neoplasm Vaginal Cancer Vagneur Triolle Ripert Syndrome Valinemia Valproate Embryopathy Van Allen Myhre Syndrome Van Benthem-Driessen-Hanveld Syndrome Van Bogaert-Hozay Syndrome Van Buchem Disease Van Buchem Disease, Type 2 Van Den Bosch Syndrome Van Den Ende-Gupta Syndrome Van Der Woude Syndrome 1 Van Der Woude Syndrome 2 Van Maldergem Syndrome Van Maldergem Syndrome 1 Van Regemorter Pierquin Vamos Syndrome Variably Protease-Sensitive Prionopathy Variant Abeta2m Amyloidosis Varicella, Severe Recurrent Vascular Hyalinosis Vascular Malformation, Primary Intraosseous Vasculitis Vasculopathy, Retinal, with Cerebral Leukodystrophy Vas Deferens, Congenital Bilateral Aplasia of Vasoproliferative Tumor of the Retina Vasquez Hurst Sotos Syndrome Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency Vater/vacterl Association Vein of Galen Aneurysm Velocardiofacial Syndrome Velofacioskeletal Syndrome Venezuelan Equine Encephalitis Venezuelan Hemorrhagic Fever Venous Malformations, Multiple Cutaneous and Mucosal Venous Thoracic Outlet Syndrome Ventricular Extrasystoles with Syncopal Episodes - Perodactyly - Robin Sequence Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence Ventricular Fibrillation, Paroxysmal Familial, 1 Ventricular Fibrillation, Paroxysmal Familial, 2 Ventricular Septal Defect Ventricular Septal Defect 1 Ventricular Septal Defect 2 Ventricular Septal Defect 3 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 Ventricular Tachycardia, Familial Ventriculo-Arterial Discordance, Isolated Ventriculomegaly with Cystic Kidney Disease Ventruto Digirolamo Festa Syndrome Verheij Syndrome Verloes Bourguignon Syndrome Verloes Van Maldergem Marneffe Syndrome Verloove Vanhorick Brubakk Syndrome Vernal Keratitis Vernal Keratoconjunctivitis Verrucous Hemangioma Verrucous Nevus Acanthokeratolytic Vertebral Body Fusion Overgrowth Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis Vertical Talus, Congenital Vesicoureteral Reflux 1 Vesicoureteral Reflux 2 Vesicoureteral Reflux 3 Vesicoureteral Reflux 4 Vesicoureteral Reflux 5 Vesicoureteral Reflux 6 Vesicoureteral Reflux 7 Vesicoureteral Reflux 8 Vestibulocochlear Dysfunction, Progressive Vibratory Urticaria Vibrio Vulnificus Infection Vici Syndrome Viljoen Kallis Voges Syndrome Viljoen Winship Syndrome Vipoma Viral Encephalitis Viral Hemorrhagic Fever Viral Hepatitis Viral Meningitis Viral Myositis Virilizing Ovarian Tumor Virus Associated Hemophagocytic Syndrome Virus-Associated Trichodysplasia Spinulosa Visceral Calciphylaxis Visceral Heterotaxy Visceral Myopathy Visceral Myopathy, Familial, with External Ophthalmoplegia Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome Visceral Neuropathy Familial Visceral Neuropathy, Familial, Autosomal Dominant Visceral Neuropathy, Familial, Autosomal Recessive Visceral Steatosis Visceral Steatosis, Congenital Visual Pathway and Hypothalamic Glioma, Childhood Visual Snow Syndrome Vitamin a Embryopathy Vitamin B12-Responsive Methylmalonic Acidemia Vitamin D-Dependent Rickets, Type 2a Vitamin E, Familial Isolated Deficiency of Vitamin K Antagonists Toxicity or Dose Selection Vitelliform Macular Dystrophy Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 Vitreoretinal Degeneration Vitreoretinal Degeneration, Snowflake Type Vitreoretinochoroidopathy Vitreoretinochoroidopathy Dominant Vitreoretinopathy, Neovascular Inflammatory Vocal Cord Paralysis and Ptosis Vogt-Koyanagi-Harada Disease Vohwinkel Syndrome Vohwinkel Syndrome, Variant Form Volvulus of Midgut Von Economo's Disease Von Hippel-Lindau Syndrome Von Willebrand's Disease Von Willebrand Disease, Type 1 Von Willebrand Disease, Type 2 Von Willebrand Disease, Type 3 Voriconazole Toxicity Vulva Cancer Vulvar Adenocarcinoma Vulvar Basal Cell Carcinoma Vulvar Intraepithelial Neoplasia Vulvar Vestibulitis Syndrome Vulva Squamous Cell Carcinoma Vulvovaginal Gingival Syndrome Vulvovaginal Rhabdomyosarcoma Waardenburg's Syndrome Waardenburg Syndrome, Type 1 Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e Waardenburg Syndrome, Type 3 Waardenburg Syndrome Type 4 Waardenburg Syndrome, Type 4a Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c Wagner Syndrome Wagner Vitreoretinopathy Wahab Syndrome Waisman Syndrome Walbaum Titran Durieux Crepin Syndrome Waldenstrom Macroglobulinemia Walker Dyson Syndrome Walker-Warburg Syndrome Wallerian Degeneration Wandering Spleen Warburg Micro Syndrome Warburg Micro Syndrome 1 Warburg Micro Syndrome 2 Warburg Micro Syndrome 3 Warburg Micro Syndrome 4 Warfarin Syndrome Warman Mulliken Hayward Syndrome Warm Antibody Hemolytic Anemia Warsaw Breakage Syndrome Warthin Tumor Warty Dyskeratoma Waterhouse-Friderichsen Syndrome Watson Syndrome Wdha Syndrome Weaver Johnson Syndrome Weaver Syndrome Weber Syndrome Webster Deming Syndrome Wegener Granulomatosis Wegmann Jones Smith Syndrome Weill-Marchesani-Like Syndrome Weill-Marchesani Syndrome Weill-Marchesani Syndrome 1 Weill-Marchesani Syndrome 2 Weill-Marchesani Syndrome 3 Weinstein Kliman Scully Syndrome Weismann-Netter Syndrome Welander Distal Myopathy Welander Distal Myopathy, Swedish Type Weleber Hecht Bigley Syndrome Well-Differentiated Fetal Adenocarcinoma of the Lung Well-Differentiated Liposarcoma Well-Differentiated Thymic Neuroendocrine Carcinoma Wellesley Carmen French Syndrome Wells-Jankovic Syndrome Wells Syndrome Werner Syndrome Wernicke-Korsakoff Syndrome Western Equine Encephalitis West Nile Encephalitis West Nile Virus Westphal Disease West Syndrome Weyers Acrofacial Dysostosis Weyers Ulnar Ray/oligodactyly Syndrome Whim Syndrome Whipple Disease Whistling Face Syndrome, Recessive Form Whitaker Syndrome White Fibrous Papulosis of the Neck White Forelock with Malformations White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome White Platelet Syndrome White Sponge Nevus 1 White Sponge Nevus 2 White-Sutton Syndrome Wieacker-Wolff Syndrome Wiedemann Oldigs Oppermann Syndrome Wiedemann Opitz Syndrome Wiedemann-Steiner Syndrome Wildervanck Syndrome Wild Type Abeta2m Amyloidosis Wild Type Attr Amyloidosis Wilkes Stevenson Syndrome Willems De Vries Syndrome Williams-Beuren Region Duplication Syndrome Williams-Beuren Syndrome Wilms Tumor 1 Wilms Tumor 2 Wilms Tumor 3 Wilms Tumor 4 Wilms Tumor 5 Wilms Tumor 6 Wilms Tumor and Radial Bilateral Aplasia Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome Wilson Disease Wilson-Mikity Syndrome Wilson-Turner X-Linked Mental Retardation Syndrome Windblown Hand Winkelman Bethge Pfeiffer Syndrome Winter Harding Hyde Syndrome Wisconsin Syndrome Wiskott-Aldrich Syndrome Wiskott-Aldrich Syndrome 2 Wiskott-Aldrich Syndrome, Autosomal Dominant Form Witkop Syndrome Witteveen-Kolk Syndrome Wolffian Tumor Wolff Mental Retardation Syndrome Wolff-Parkinson-White Syndrome Wolf-Hirschhorn Syndrome Wolfram-Like Syndrome, Autosomal Dominant Wolfram Syndrome Wolfram Syndrome 1 Wolfram Syndrome 2 Woodhouse-Sakati Syndrome Woods Syndrome Woolly Hair, Autosomal Dominant Woolly Hair, Autosomal Recessive 3 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears Woolly Hair Syndrome Wound Botulism Wound Myiasis Wrinkly Skin Syndrome Wt Limb-Blood Syndrome Wyburn Mason's Syndrome Xanthinuria Xanthinuria, Type I Xanthinuria, Type Ii Xanthogranulomatous Cholecystitis Xanthogranulomatous Sialadenitis Xanthoma Disseminatum Xeroderma Pigmentosum, Complementation Group a Xeroderma Pigmentosum, Complementation Group B Xeroderma Pigmentosum, Complementation Group C Xeroderma Pigmentosum, Complementation Group D Xeroderma Pigmentosum, Complementation Group E Xeroderma Pigmentosum, Complementation Group F Xeroderma Pigmentosum, Complementation Group G Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 9 Xeroderma Pigmentosum, Variant Type Xeroderma Talipes Enamel Defects Xfe Progeroid Syndrome Xia-Gibbs Syndrome Xk Aprosencephaly X-Linked Acrogigantism Due to a Point Mutation X-Linked Charcot-Marie-Tooth Disease X-Linked Chondrodysplasia Punctata X-Linked Complicated Corpus Callosum Agenesis X-Linked Complicated Spastic Paraplegia Type 1 X-Linked Congenital Generalized Hypertrichosis X-Linked Congenital Stationary Night Blindness X-Linked Diffuse Leiomyomatosis-Alport Syndrome X-Linked Dominant Intellectual Disability-Epilepsy Syndrome X-Linked Dystonia-Parkinsonism/lubag X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness X-Linked Infantile Nystagmus X-Linked Intellectual Disability, Abidi Type X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome X-Linked Intellectual Disability, Cilliers Type X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome X-Linked Intellectual Disability, Golabi-Ito-Hall Type X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome X-Linked Intellectual Disability, Najm Type X-Linked Intellectual Disability, Pai Type X-Linked Intellectual Disability-Plagiocephaly Syndrome X-Linked Intellectual Disability, Porteous Type X-Linked Intellectual Disability-Precocious Puberty-Obesity Syndrome X-Linked Intellectual Disability, Schimke Type X-Linked Intellectual Disability, Seemanova Type X-Linked Intellectual Disability, Shashi Type X-Linked Intellectual Disability - Short Stature - Obesity X-Linked Intellectual Disability, Siderius Type X-Linked Intellectual Disability, Stevenson Type X-Linked Intellectual Disability, Stoll Type X-Linked Intellectual Disability, Turner Type X-Linked Intellectual Disability, Van Esch Type X-Linked Intellectual Disability with or Without Nystagmus X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome X-Linked Lissencephaly with Abnormal Genitalia X-Linked Magnesium Deficiency with Epstein-Barr Virus Infection and Neoplasia X-Linked Mendelian Susceptibility to Mycobacterial Diseases X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club X-Linked Neurodegenerative Syndrome, Bertini Type X-Linked Neurodegenerative Syndrome, Hamel Type X-Linked Non-Specific Intellectual Disability X-Linked Nonsyndromic Deafness X-Linked Non-Syndromic Sensorineural Deafness Type Dfn X-Linked Recessive Intellectual Disability-Macrocephaly-Ciliary Dysfunction Syndrome Xp22.13p22.2 Duplication Syndrome Xp22.3 Microdeletion Syndrome Xq12-Q13.3 Duplication Syndrome X Small Rings Xylt1-Cdg Yaws Y Chromosome Infertility Y Chromosome Pericentric Inversion Yellow Fever Yellow Nail Syndrome Yemenite Deaf-Blind Hypopigmentation Syndrome Yolk Sac Tumor of Central Nervous System Yorifuji Okuno Syndrome You-Hoover-Fong Syndrome Young Syndrome Yuan-Harel-Lupski Syndrome Yunis-Varon Syndrome Yusho Disease Zadik Barak Levin Syndrome Zap-70 Deficiency Zazam Sheriff Phillips Syndrome Zebra Body Myopathy Zechi-Ceide Syndrome Zellweger-Like Syndrome Without Peroxisomal Anomalies Zellweger Spectrum Disorder Zellweger Syndrome Zerres Rietschel Majewski Syndrome Zika Fever Zika Virus Congenital Syndrome Zika Virus Infection Zimmermann-Laband Syndrome Zimmermann-Laband Syndrome 1 Zimmermann-Laband Syndrome 2 Zinc, Elevated Plasma Zinc-Responsive Necrolytic Acral Erythema Zlotogora Syndrome Zollinger-Ellison Syndrome Zori Stalker Williams Syndrome Zuska's Disease Zygodactyly 1 Zygodactyly Type 2 Zygodactyly Type 3 Zygodactyly Type 4 Zygomycosis