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| Boli A-Z | | 12q14 Microdeletion Syndrome
2q37 Deletion Syndrome
3mc Syndrome
3mc Syndrome 2
9q33.3q34.11 Microdeletion Syndrome
Aapoai Amyloidosis
Aapoaii Amyloidosis
Aapoaiv Amyloidosis
Acheiria
Acheiria, Bilateral
Acheiria, Unilateral
Acheiropody
Achilles Bursitis
Achondrogenesis
Achondrogenesis, Type Ia
Achondrogenesis, Type Ib
Achondrogenesis, Type Ii
Achondroplasia
Achondroplasia and Severe Combined Immunodeficiency
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans
Acquired Angioedema
Acquired Angioedema Type 1
Acquired Angioedema Type 2
Acquired Cutis Laxa
Acrocallosal Syndrome
Acrocapitofemoral Dysplasia
Acrocephalopolydactylous Dysplasia
Acrocephalopolysyndactyly Type Iii
Acrocephalopolysyndactyly Type Iv
Acrocraniofacial Dysostosis
Acrodysostosis
Acrodysostosis with Multiple Hormone Resistance
Acrodysplasia Scoliosis
Acrofacial Dysostosis
Acrofacial Dysostosis 1, Nager Type
Acrofacial Dysostosis, Catania Type
Acrofacial Dysostosis, Cincinnati Type
Acrofacial Dysostosis, Kennedy-Teebi Type
Acrofacial Dysostosis, Palagonia Type
Acrofacial Dysostosis, Patagonia Type
Acrofacial Dysostosis Syndrome of Rodriguez
Acrofrontofacionasal Dysostosis
Acrofrontofacionasal Dysostosis 1
Acrofrontofacionasal Dysostosis 2
Acromelic Frontonasal Dysostosis
Acromesomelic Dysplasia
Acromesomelic Dysplasia, Hunter-Thompson Type
Acromesomelic Dysplasia, Maroteaux Type
Acromicric Dysplasia
Acroosteolysis
Acroosteolysis Dominant Type
Acropectoral Syndrome
Acropectorovertebral Dysplasia
Acropectorovertebral Dysplasia F Form
Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22)
Acute Pancreatitis
Adactylia, 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
Adult Dermatomyositis
Adult Extraosseous Osteosarcoma
Adult Fibrosarcoma
Adult-Onset Still's Disease
Adult Pulmonary Langerhans Cell Histiocytosis
Adult Syndrome
Adult Xanthogranuloma
Afib Amyloidosis
Ah Amyloidosis
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
Al Amyloidosis
Albinism, Ocular, Type I
Albright's Hereditary Osteodystrophy
Alect2 Amyloidosis
Al-Gazali-Bakalinova Syndrome
Al Gazali Sabrinathan Nair Syndrome
Aloi Tomasini Isaia Syndrome
Alpha-Mannosidosis, Adult Form
Alpha-Mannosidosis, Infantile Form
Alsing Syndrome
Amelia, Autosomal Recessive
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
Aminopterin Syndrome Sine Aminopterin
Amyloidosis
Amyloidosis Aa
Amyloidosis, Familial Visceral
Amyloidosis, Finnish Type
Amyloidosis, Hereditary, Transthyretin-Related
Anaplastic Plasmacytoma
Anauxetic Dysplasia 1
Anauxetic Dysplasia 2
Aneurysmal Bone Cysts
Angel-Shaped Phalangoepiphyseal Dysplasia
Angioedema
Angioedema, Hereditary, Type I
Angioedema, Hereditary, Type Iii
Angioedema Induced by Ace Inhibitors
Angioosteohypertrophic Syndrome
Angioosteohypotrophic Syndrome
Ankylosing Vertebral Hyperostosis with Tylosis
Ankylosis
Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies
Antisynthetase Syndrome
Antithrombin Iii Deficiency
Antley-Bixler Syndrome
Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis
Apert Syndrome
Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv
Aphalangy with Hemivertebrae
Aplastic Anemia
Apodia
Apodia, Bilateral
Apodia, Unilateral
Arthritis
Arthrochalasia Ehlers-Danlos Syndrome
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
Arthropathy
Arthropathy, Progressive Pseudorheumatoid, of Childhood
Aspartylglucosaminuria
Astley-Kendall Syndrome
Asynchronous Multifocal Osteogenic Sarcoma
Atelosteogenesis
Atelosteogenesis, Type I
Atelosteogenesis, Type Ii
Atelosteogenesis, Type Iii
Atp6v0a2-Related Cutis Laxa
Au-Kline Syndrome
Auriculo-Condylar Syndrome
Auriculoosteodysplasia
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmune Disease, Multisystem, with Facial Dysmorphism
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune Interstitial Lung, Joint, and Kidney Disease
Autoimmune Pancreatitis
Autoimmune Pancreatitis Type 1
Autoimmune Pancreatitis Type 2
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome
Autoinflammation with Infantile Enterocolitis
Autoinflammatory Syndrome, Familial, Behcet-Like
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome
Autosomal Dominant Robinow Syndrome
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Autosomal Recessive Hypophosphatemic Rickets
Autosomal Recessive Malignant Osteopetrosis
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
Avascular Necrosis of Femoral Head, Primary, 1
Avascular Necrosis of Femoral Head, Primary, 2
Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities
Axial Osteomalacia
Baastrup's Syndrome
Baller-Gerold Syndrome
Banki Syndrome
Basal Cell Nevus Syndrome
Battaglia-Neri Syndrome
Beare-Stevenson Cutis Gyrata Syndrome
Beemer Ertbruggen Syndrome
Beemer Lethal Malformation Syndrome
Behcet's Syndrome Arthropathy
Behcet Syndrome
Benallegue Lacete Syndrome
Benign Angiitis of the Central Nervous System
Benign Cephalic Histiocytosis
Bent Bone Dysplasia Syndrome
Beukes Hip Dysplasia
Bicipital Tenosynovitis
Bipartite Talus
Bizzare Parosteal Osteochondromatous Proliferation
Blount's Disease
Blount Disease, Adolescent
Blount Disease, Infantile
Bone Ameloblastoma
Bone Angioendothelial Sarcoma
Bone Benign Neoplasm
Bone Cancer
Bone Chondrosarcoma
Bone Deterioration Disease
Bone Development Disease
Bone Dysplasia Azouz Type
Bone Dysplasia Corpus Callosum Agenesis
Bone Dysplasia, Lethal, Holmgren Type
Bone Dysplasia Moore Type
Bone Epithelioid Hemangioma
Bone Ewing's Sarcoma
Bone Fracture
Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Giant Cell Sarcoma
Bone Giant Cell Tumor
Bone Inflammation Disease
Bone Leiomyosarcoma
Bone Lymphoma
Bone Marrow Cancer
Bone Marrow Failure Syndrome 1
Bone Marrow Failure Syndrome 2
Bone Marrow Failure Syndrome 3
Bone Marrow Necrosis
Bone Mineral Density Quantitative Trait Locus 1
Bone Mineral Density Quantitative Trait Locus 10
Bone Mineral Density Quantitative Trait Locus 11
Bone Mineral Density Quantitative Trait Locus 12
Bone Mineral Density Quantitative Trait Locus 13
Bone Mineral Density Quantitative Trait Locus 14
Bone Mineral Density Quantitative Trait Locus 15
Bone Mineral Density Quantitative Trait Locus 16
Bone Mineral Density Quantitative Trait Locus 17
Bone Mineral Density Quantitative Trait Locus 18
Bone Mineral Density Quantitative Trait Locus 2
Bone Mineral Density Quantitative Trait Locus 3
Bone Mineral Density Quantitative Trait Locus 4
Bone Mineral Density Quantitative Trait Locus 5
Bone Mineral Density Quantitative Trait Locus 6
Bone Mineral Density Quantitative Trait Locus 7
Bone Mineral Density Quantitative Trait Locus 8
Bone Mineral Density Quantitative Trait Locus 9
Bone Osteosarcoma
Bone Pain, Periodic
Bone Peripheral Neuroepithelioma
Bone Remodeling Disease
Bone Resorption Disease
Bone Size Quantitative Trait Locus 1
Bone Size Quantitative Trait Locus 2
Bone Squamous Cell Carcinoma
Bone Structure Disease
Boomerang Dysplasia
Bowing of Long Bones, Asymmetric and Symmetric
Bowing of Long Bones Congenital
Brachioskeletogenital Syndrome
Brachydactyly
Brachydactyly, Combined B and E Types
Brachydactyly-Distal Symphalangism Syndrome
Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia
Brachydactyly, Mononen Type
Brachydactyly of Toes
Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction
Brachydactyly-Syndactyly Syndrome
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
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachyolmia
Brachyolmia Type 2
Brachyolmia Type 3
Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes
Brachytelephalangy with Characteristic Facies and Kallmann Syndrome
Branchial Arch Syndrome, X-Linked
Breast Osteosarcoma
Brittle Bone Disorder
Brittle Bone Syndrome Lethal Type
Brittle Cornea Syndrome 1
Brittle Cornea Syndrome 2
Bruck Syndrome
Bruck Syndrome 1
Bruck Syndrome 2
Buerger Disease
Bursitis
Buschke-Ollendorff Syndrome
Caffey Disease
Calciphylaxis
Calciphylaxis Cutis
Calvarial Hyperostosis
Campomelia, Cumming Type
Campomelic Dysplasia
Camptobrachydactyly
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis 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 with Fibrous Tissue Hyperplasia and Skeletal Dysplasia
Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases
Camurati-Engelmann Disease
Camurati-Engelmann Disease, Type 2
Cantú Syndrome and Related Disorders
Cantu Syndrome
Capillary Leak Syndrome
Caplan's Syndrome
Cardiospondylocarpofacial Syndrome
Carney Complex, Type 1
Carney Complex, Type 2
Carney Complex Variant
Carpenter Syndrome 1
Carpenter Syndrome 2
Carpotarsal Osteochondromatosis
Carpo Tarsal Osteolysis Recessive
Cartilage Cancer
Cartilage Disease
Cartilage-Hair Hypoplasia
Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders
Cartilaginous Cancer
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia
Cataract Skeletal Anomalies
Catel-Manzke Syndrome
Cat Eye Syndrome
Cenani-Lenz Syndactyly Syndrome
Central Nervous System Osteosarcoma
Central Polydactyly of Fingers
Central Polydactyly of Fingers, Bilateral
Central Polydactyly of Fingers, Unilateral
Central Serous Chorioretinopathy
Cerebellar Hypoplasia with Endosteal Sclerosis
Cerebral Amyloid Angiopathy, App-Related
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral Amyloid Angiopathy, Itm2b-Related, 1
Cerebral Amyloid Angiopathy, Itm2b-Related, 2
Cerebrocostomandibular-Like Syndrome
Cerebrocostomandibular Syndrome
Cerebro-Oculo-Facio-Skeletal Syndrome
Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 3
Cerebrooculofacioskeletal Syndrome 4
Charlie M Syndrome
Cheirospondyloenchondromatosis
Cherubism
Chest Wall Bone Cancer
Chilblain Lupus 1
Chilblain Lupus 2
Childhood Extraosseous Osteosarcoma
Childhood Intracortical Osteosarcoma
Childhood Parosteal Osteogenic Sarcoma
Childhood Type Dermatomyositis
Chitty Hall Webb Syndrome
Chondroblastic Osteosarcoma
Chondroblastoma
Chondrocalcinosis
Chondrocalcinosis 1
Chondrocalcinosis 2
Chondrocalcinosis Due to Apatite Crystal Deposition
Chondrodysplasia, Blomstrand Type
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 Syndrome
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Chondrodysplasia with Joint Dislocations, Gpapp Type
Chondroectodermal Dysplasia with Night Blindness
Chondromalacia
Chondromyxoid Fibroma
Chondrosarcoma
Chops Syndrome
Choroidal Osteoma, Bilateral
Chromosome 16p13.3 Deletion Syndrome, Proximal
Chromosome 17p13.3, Telomeric, Duplication Syndrome
Chromosome 17q23.1-Q23.2 Duplication Syndrome
Chromosome 2q35 Duplication Syndrome
Chromosome 2q37 Deletion Syndrome
Chromosome 8q22.1 Duplication Syndrome
Chronic Recurrent Multifocal Osteomyelitis
Cinca Syndrome
Clavicle, Pseudarthrosis of, Congenital
Clcn7-Related Osteopetrosis
Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa
Cleidocranial Dysplasia
Cleidocranial Dysplasia, Recessive Form
Cleidocranial Dysplasia Spectrum Disorder
Cleidorhizomelic Syndrome
Clubfoot
Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly
Codas Syndrome
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
Cogan Syndrome
Cohen-Gibson Syndrome
Col1a1/2-Related Osteogenesis Imperfecta
Cole-Carpenter Syndrome
Cole-Carpenter Syndrome 1
Collagenopathy Type 2 Alpha 1
Collagenopathy, Types Ii and Xi
Coloboma of Macula and Skeletal Anomalies
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
Condensing Osteitis of the Clavicle
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 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 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 Fibrosarcoma
Congenital Heart Defects and Skeletal Malformations Syndrome
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
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 Radioulnar Synostosis
Congenital Sialidosis Type 2
Congenital Syphilis
Cono-Spondylar Dysplasia
Constricting Bands, Congenital
Conventional Central Osteosarcoma
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
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
Cote Katsantoni Syndrome
Cousin Syndrome
Coxoauricular Syndrome
Craniodiaphyseal Dysplasia
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cranioectodermal Dysplasia 1
Cranioectodermal Dysplasia 2
Cranioectodermal Dysplasia 3
Cranioectodermal Dysplasia 4
Craniofacial and Skeletal Defects
Craniofacial Conodysplasia
Craniofacial Dysostosis with Diaphyseal Hyperplasia
Craniofacial Dyssynostosis with Short Stature
Craniofaciofrontodigital Syndrome
Craniofrontonasal Syndrome
Craniometadiaphyseal Dysplasia
Craniometaphyseal Dysplasia, Autosomal Dominant
Craniometaphyseal Dysplasia, Autosomal Recessive
Craniomicromelic Syndrome
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 and Dental Anomalies
Craniosynostosis Autosomal Dominant
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
Craniosynostosis-Cataract Syndrome
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis Syndrome, Autosomal Recessive
Craniosynostosis with Fibular Aplasia
Craniotelencephalic Dysplasia
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age
Crouzon Syndrome
Crouzon Syndrome with Acanthosis Nigricans
Cryoglobulinemia, Familial Mixed
Culler-Jones Syndrome
Currarino Syndrome
Curry-Jones Syndrome
Cutaneous Polyarteritis Nodosa
Cutaneous Pseudolymphoma
Cutaneous-Skeletal Hypophosphatemia Syndrome
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 Osteoporosis
Cyprus Facial Neuromusculoskeletal Syndrome
Cystic Angiomatosis of Bone, Diffuse
Czech Dysplasia
Dandy-Walker Malformation with Postaxial Polydactyly
Deafness, Conductive, with Ptosis and Skeletal Anomalies
Degenerative Disc Disease
Dental Anomalies and Short Stature
Dent Disease 1
Dent Disease 2
Dentin Dysplasia with Sclerotic Bones
Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 1
Dentinogenesis Imperfecta Type 2
Dentinogenesis Imperfecta Type 3
De Quervain Disease
Dermato-Cardio-Skeletal Syndrome, Borrone Type
Dermatomyositis
Desbuquois Dysplasia
Desbuquois Dysplasia 1
Desbuquois Dysplasia 2
Desmosterolosis
Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair
Diaphanospondylodysostosis
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma
Diastrophic Dysplasia
Diffuse Cutaneous Systemic Sclerosis
Diffuse Idiopathic Skeletal Hyperostosis
Digital Anomalies-Intellectual Disability-Short Stature Syndrome
Digital Arthropathy-Brachydactyly, Familial
Digital Clubbing, Isolated Congenital
Dihydropyrimidine Dehydrogenase Deficiency
Discitis
Distal Arthrogryposis
Distal Osteosclerosis
Dobrow Syndrome
Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis
Doughnut Lesions of Skull, Familial
Drug-Induced Lupus Erythematosus
Drug-Induced Vasculitis
Duane-Radial Ray Syndrome
Dwarfism Lethal Type Advanced Bone Age
Dwarfism Thin Bones Multiple Fractures
Dyggve-Melchior-Clausen Disease
Dysbaric Osteonecrosis
Dyschondrosteosis and Nephritis
Dysosteosclerosis
Dysostosis
Dysplasia Epiphysealis Hemimelica
Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas
Dysplasia of Head of Femur, Meyer Type
Dysplastic Cortical Hyperostosis
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Dyssegmental Dysplasia, Silverman-Handmaker Type
Dysspondyloenchondromatosis
Eaf
Early Congenital Syphilis
Early Yaws
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectrodactyly-Polydactyly
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
Eiken Syndrome
Elastoma
Ellis-Van Creveld Syndrome
Enchondromatosis, Multiple, Ollier Type
Endocrine-Cerebroosteodysplasia
Endosteal Hyperostosis, Autosomal Dominant
Enthesitis-Related Juvenile Idiopathic Arthritis
Eosinophilic Fasciitis
Eosinophilic Granuloma
Eosinophilic Granulomatosis with Polyangiitis
Epicondylitis
Epimetaphyseal Skeletal Dysplasia
Epiphyseal Chondrodysplasia, Miura Type
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
Erdheim-Chester Disease
Erythema Elevatum Diutinum
Ewing's Family of Tumors
Ewing Sarcoma
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
Exostoses, Multiple, Type I
Exostoses, Multiple, Type Ii
Exostoses, Multiple, Type Iii
Exostoses with Anetodermia and Brachydactyly, Type E
Exostosis
Expansile Bone Lesions
External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus
Extraosseous Osteosarcoma
Eyebrows, Duplication of, with Stretchable Skin and Syndactyly
Faciocardiomelic Dysplasia, Lethal
Facio Skeletal Genital Syndrome Rippberger Type
Familial Adenomatous Polyposis
Familial Adenomatous Polyposis 1
Familial Adenomatous Polyposis 2
Familial Adenomatous Polyposis 3
Familial Adenomatous Polyposis 4
Familial Amyloidosis, Finnish Type
Familial Avascular Necrosis of the Femoral Head
Familial Calcium Pyrophosphate Deposition
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 Expansile Osteolysis
Familial Hypocalciuric Hypercalcemia
Familial Mediterranean Fever
Familial Mediterranean Fever, Autosomal Dominant
Familial Myelofibrosis
Familial Osteochondritis Dissecans
Familial Tumoral Calcinosis
Fanconi Anemia, Complementation Group a
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
Faye-Petersen-Ward-Carey Syndrome
Feingold Syndrome 1
Feingold Syndrome 2
Felty Syndrome
Femoral Agenesis/hypoplasia
Femoral Agenesis/hypoplasia, Bilateral
Femoral Agenesis/hypoplasia, Unilateral
Femoral-Facial Syndrome
Femur-Fibula-Ulna Syndrome
Femur, Unilateral Bifid, with Monodactylous Ectrodactyly
Fetal Thalidomide Syndrome
Fibroblastic Rheumatism
Fibrochondrogenesis
Fibrochondrogenesis 1
Fibrochondrogenesis 2
Fibrodysplasia Ossificans Progressiva
Fibrosarcoma
Fibrosarcoma of Bone
Fibrosarcomatous Osteosarcoma
Fibrosclerosis, Multifocal
Fibrosing Mediastinitis
Fibrous Dysplasia
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
Filippi Syndrome
Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome
Floating-Harbor Syndrome
Focal Myositis
Foix-Alajouanine Syndrome
Frank-Ter Haar Syndrome
Freiberg's Disease
Frontofacionasal Dysplasia
Frontometaphyseal Dysplasia
Frontometaphyseal Dysplasia 1
Frontometaphyseal Dysplasia 2
Frontonasal Dysplasia 1
Frontonasal Dysplasia 2
Frontonasal Dysplasia 3
Frontonasal Dysplasia with Alar Clefts
Fucosidosis
Fucosidosis Type 1
Galactosialidosis
Ganglion or Cyst of Synovium/tendon/bursa
Gangliosidosis Gm1
Gangliosidosis Gm2
Gaucher's Disease
Gaucher Disease, Type I
Gaucher Disease, Type Ii
Gaucher Disease, Type Iii
Gaucher Disease, Type Iiic
Geleophysic Dysplasia
Geleophysic Dysplasia 1
Geleophysic Dysplasia 2
Geleophysic Dysplasia 3
Generalized Eruptive Histiocytosis
Genitopatellar Syndrome
Genochondromatosis
Geroderma Osteodysplastica
Geroderma Osteodysplasticum
Ghosal Hematodiaphyseal Dysplasia
Giant Cell Reparative Granuloma
Gigantiform Cementoma, Familial
Gigantism Advanced Bone Age Hoarse Cry
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Glossopalatine Ankylosis
Glucocorticoid-Induced Osteoporosis
Glycosylphosphatidylinositol Biosynthesis Defect 15
Glycosylphosphatidylinositol Biosynthesis Defect 16
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
Gnathodiaphyseal Dysplasia
Gonococcal Bursitis
Gonococcal Spondylitis
Goodpasture Syndrome
Gorham's Disease
Gout
Gracile Bone Dysplasia
Grange Syndrome
Grant Syndrome
Greenberg Dysplasia
Greig Cephalopolysyndactyly Syndrome
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
Gurrieri Syndrome
Hadziselimovic Syndrome
Hajdu-Cheney Syndrome
Hallermann-Streiff-Like Syndrome
Hallermann-Streiff Syndrome
Hallux Varus and Preaxial Polysyndactyly
Hamamy Syndrome
Hand-Foot-Genital Syndrome
Handigodu Joint Disease
Hartsfield Syndrome
Hashimoto-Pritzker Syndrome
Heart-Hand Syndrome, Slovenian Type
Heart-Hand Syndrome, Spanish Type
Heel Spur
Hemarthrosis
Hemifacial Microsomia
Hemifacial Microsomia with Radial Defects
Hepatic Osteogenic Sarcoma
Hereditary Amyloidosis
Hereditary Angioedema
Hereditary Hemorrhagic Telangiectasia
Hereditary Hypophosphatemic Rickets
Hereditary Multiple Exostoses
Hereditary Multiple Osteochondromas
Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72
Herrmann Opitz Craniosynostosis
High Bone Mass Osteogenesis Imperfecta
Hirsutism, Skeletal Dysplasia, and Mental Retardation
Histiocytosis
Histiocytosis, Progressive Mucinous
Ho Kaufman Mcalister Syndrome
Holoprosencephaly, Semilobar, with Craniosynostosis
Hughes-Stovin Syndrome
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-Mcalpine Craniosynostosis Syndrome
Hunter-Mcalpine Syndrome
Hurler-Scheie Syndrome
Hurler Syndrome
Hutchinson-Gilford Progeria Syndrome
Hyaline Fibromatosis Syndrome
Hydrarthrosis
Hydrocephalus
Hydrocephalus, Autosomal Dominant
Hydrocephalus Autosomal Recessive
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius
Hydrocephalus Growth Retardation Skeletal Anomalies
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
Hydrocephalus Skeletal Anomalies
Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia
Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphic Features
Hyper-Igd Syndrome
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive
Hypermobility of Coccyx
Hypermobility Syndrome
Hyperostosis
Hyperostosis Cranialis Interna
Hyperparathyroidism, Neonatal Severe
Hyperphalangy
Hyperphalangy, Bilateral
Hyperphalangy, Unilateral
Hyperphosphatasia-Intellectual Disability Syndrome
Hypersensitivity Vasculitis
Hypertelorism, Teebi Type
Hypertension and Brachydactyly Syndrome
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalciuric Hypercalcemia, Familial, Type I
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypochondrogenesis
Hypochondroplasia
Hypocomplementemic Urticarial Vasculitis
Hypoglossia-Hypodactylia
Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies
Hypophosphatasia
Hypophosphatasia, Adult
Hypophosphatasia, Childhood
Hypophosphatasia, Infantile
Hypophosphatemic Bone Disease
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
Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
Hypouricemia, Hypercalcinuria, and Decreased Bone Density
Idiopathic Avascular Necrosis
Idiopathic Eosinophilic Myositis
Idiopathic Phalangeal Acro-Osteolysis
Idiopathic Recurrent Pericarditis
Idiopathic Scoliosis
Ifap Syndrome with or Without Bresheck Syndrome
Igg4-Related Aortitis
Igg4-Related Dacryoadenitis and Sialadenitis
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
Immunodeficiency 38 with Basal Ganglia Calcification
Immunoglobulin a Vasculitis
Imperforate Oropharynx-Costo Vertebral Anomalies Syndrome
Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia
Inclusion Body Myositis
Indeterminate Cell Histiocytosis
Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis
Infantile Osteopetrosis with Neuroaxonal Dysplasia
Infantile Recurrent Chronic Multifocal Osteomyolitis
Infantile Scoliosis
Infantile Sialic Acid Storage Disease
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 Myopathy with Abundant Macrophages
Inflammatory Skin and Bowel Disease, Neonatal, 1
Inflammatory Skin and Bowel Disease, Neonatal, 2
Inflammatory Spondylopathy
Inherited Bone Marrow Failure Syndromes
Intermittent Hydrarthrosis
Interstitial Granulomatous Dermatitis with Arthritis
Intracortical Osteogenic Sarcoma
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
Inverse Klippel-Trénaunay Syndrome
Iridogoniodysgenesis and Skeletal Anomalies
Ischemic Bone Disease
Ischio-Vertebral Syndrome
Isolated Bone Marrow Mastocytosis
Isolated Brachycephaly
Isolated Ectopia Lentis
Isolated Klippel-Feil Syndrome
Isolated Oxycephaly
Isolated Plagiocephaly
Isolated Scaphocephaly
Isolated Sternocostoclavicular Hyperostosis
Isolated Trigonocephaly
Ivic Syndrome
Jackson-Weiss Syndrome
Joint Laxity, Familial
Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy
Juvenile Ossifying Fibroma
Juvenile Overlap Myositis
Juvenile Polymyositis
Juvenile Primary Osteoporosis
Juvenile Rheumatoid Arthritis
Juvenile Sialidosis Type 2
Juvenile Spondyloarthropathy
Juvenile Temporal Arteritis
Juvenile Xanthogranuloma
Juxtacortical Osteosarcoma
Kawasaki Disease
Kbg Syndrome
Kennerknecht Syndrome
Kenny-Caffey Syndrome
Kenny-Caffey Syndrome, Type 1
Kenny-Caffey Syndrome, Type 2
Keutel Syndrome
Kidney Osteogenic Sarcoma
Kienbock's Disease
Kikuchi Disease
Kimura Disease
Kleeblattschaedel
Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism
Klippel-Trenaunay-Weber Syndrome
Kniest Dysplasia
Kniest-Like Dysplasia, Lethal
Kohler's Disease
Kosaki Overgrowth Syndrome
Kozlowski Warren Fisher Syndrome
Kummell's Disease
Kyphomelic Dysplasia
Kyphoscoliotic Ehlers-Danlos Syndrome
Lacrimoauriculodentodigital Syndrome
Langer Mesomelic Dysplasia
Larsen-Like Syndrome
Larsen-Like Syndrome, Lethal Type
Larsen Syndrome
Laryngeal Cartilage Cancer
Late Congenital Syphilis
Laurin-Sandrow Syndrome
Leg, Absence Deformity of, with Congenital Cataract
Legg-Calve-Perthes Disease
Lenz-Majewski Hyperostotic Dwarfism
Leri-Weill Dyschondrosteosis
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 Short-Limb Skeletal Dysplasia, Al Gazali Type
Letterer-Siwe Disease
Leukocyte Adhesion Deficiency, Type Iii
Liebenberg Syndrome
Limb Defects, Distal Transverse, with Mental Retardation and Spasticity
Limb-Mammary Syndrome
Limited Scleroderma
Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones
Liposarcoma of Bone
Lissencephaly Type Iii and Bone Dysplasia
Localized Chondrosarcoma
Localized Osteosarcoma
Localized Scleroderma
Lockwood Feingold Syndrome
Loeys-Dietz Syndrome 2
Loeys-Dietz Syndrome 3
Loeys-Dietz Syndrome 4
Long Bones of Lower Limb Cancer
Long-Thumb Brachydactyly Syndrome
Lowry-Maclean Syndrome
Lrp5-Related Primary Osteoporosis
Lupus Erythematosus
Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance
Macrophage Activation Syndrome
Madelung Deformity, Bilateral
Madelung Deformity, Unilateral
Magic Syndrome
Majeed Syndrome
Malignant Atrophic Papulosis
Malignant Fibrous Histiocytoma of Bone
Malignant Histiocytosis
Malignant Neoplasm of Short Bones of Lower Limb
Mammary-Digital-Nail Syndrome
Mandibular Cancer
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
Mannosidosis
Mannosidosis, Alpha B, Lysosomal
Mannosidosis, Beta a, Lysosomal
Marfan Lipodystrophy Syndrome
Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome
Marfan Syndrome
Marshall-Smith Syndrome
Marshall Syndrome
Mastoiditis
Maxillary Neoplasm
Mazabraud Syndrome
Mccune-Albright Syndrome
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
Mediastinal Osteogenic Sarcoma
Megarbane 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
Melhem Fahl Syndrome
Melnick-Needles Syndrome
Melorheostosis
Melorheostosis, Isolated
Melorheostosis with Osteopoikilosis
Membranous Cranial Ossification, Delayed
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, Microcephaly, Epilepsy, and Coarse Face
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
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, Wu Type
Mental Retardation, X-Linked, with Craniofacial Dysmorphism
Mesomelia-Synostoses Syndrome
Mesomelic Dysplasia, Kantaputra Type
Mesomelic Dysplasia, Savarirayan Type
Mesomelic Limb Shortening and Bowing
Metacarpal 4-5 Fusion
Metachondromatosis
Metachronous Osteosarcoma of the Bone
Metaphyseal Acroscyphodysplasia
Metaphyseal Anadysplasia
Metaphyseal Anadysplasia 2
Metaphyseal Chondrodysplasia, Jansen Type
Metaphyseal Chondrodysplasia, Kaitila Type
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
Metaphyseal Dysplasia, Braun-Tinschert Type
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
Metatropic Dysplasia
Mevalonic Aciduria
Michels Caskey Syndrome
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, Toriello Type
Microcephaly, Severe, with Skeletal Anomalies Including Posterior Rib-Gap Defects
Microcephaly with Cervical Spine Fusion Anomalies
Micromelic Bone Dysplasia with Cloverleaf Skull
Microphthalmia/coloboma and Skeletal Dysplasia Syndrome
Microscopic Polyangiitis
Midface Dysplasia
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Mixed Connective Tissue Disease
Mixed Cryoglobulinemia Type Iii
Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations
Mohr Syndrome
Monosomy 7 of Bone Marrow
Monostotic Fibrous Dysplasia
Mseleni Joint Disease
Muckle-Wells Syndrome
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
Multicentric Carpotarsal Osteolysis Syndrome
Multicentric Osteolysis Nephropathy
Multicentric Osteolysis, Nodulosis, and Arthropathy
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Multicentric Reticulohistiocytosis
Multifocal Osteogenic Sarcoma
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 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 Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects
Multiple Sulfatase Deficiency
Multiple Synostoses Syndrome
Multiple Synostoses Syndrome 1
Multiple Synostoses Syndrome 2
Multiple Synostoses Syndrome 3
Muscular Atrophy
Musculocontractural Ehlers-Danlos Syndrome
Myalgia-Eosinophilia Syndrome Associated with Tryptophan
Myelofibrosis
Myeloma, Multiple
Myhre Syndrome
Myosin, Heavy Chain 16, Skeletal Muscle, Pseudogene
Myotonia with Skeletal Abnormalities and Mental Retardation
Nail-Patella Syndrome
Nasal Bones, Absence of
Navicular Bone, Accessory
Necrobiotic Xanthogranuloma
Necrotizing Autoimmune Myopathy
Negative Rheumatoid Factor Polyarthritis
Neonatal Antiphospholipid Syndrome
Neonatal Autoimmune Hemolytic Anemia
Neonatal Dermatomyositis
Neonatal Inflammatory Skin and Bowel Disease
Neonatal Lupus Erythematosus
Neonatal Marfan Syndrome
Neonatal Myasthenia Gravis
Neonatal Scleroderma
Neonatal Systemic Lupus Erythematosus
Nephrolithiasis/osteoporosis, Hypophosphatemic, 1
Nephrolithiasis/osteoporosis, Hypophosphatemic, 2
Nestor-Guillermo Progeria Syndrome
Neuraminidase Deficiency
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to 9q21 Microdeletion
Neurogenic Arthropathy
Neutropenia
Neutropenia, Chronic Familial
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
Neutrophilic Dermatosis, Acute Febrile
Nievergelt Syndrome
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Ocular Albinism
Oculoauriculofrontonasal Syndrome
Oculodentodigital Dysplasia
Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia Dominant
Oculomaxillofacial Dysostosis
Oculo Skeletal Renal Syndrome
Okihiro Syndrome Due to 20q13 Microdeletion
Okihiro Syndrome Due to a Point Mutation
Olecranon Bursitis
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies
Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies
Oliver Syndrome
Omodysplasia
Omodysplasia 1
Omodysplasia 2
Oncogenic Osteomalacia
Opsismodysplasia
Orbital Osteomyelitis
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
Osebold-Remondini Syndrome
Osebold Skeletal Dysplasia/osteolysis Syndrome
Osgood-Schlatter's Disease
Oslam Syndrome
Osseous Heteroplasia, Progressive
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Ossified Ear Cartilages
Ossifying Fibroma
Osteitis Fibrosa
Osteoarthritis
Osteoarthritis with Mild Chondrodysplasia
Osteoblastoma
Osteochondritis Dissecans
Osteochondrodysplasia
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome
Osteochondroma
Osteochondrosis
Osteoclastic Giant Cell Tumor of Pancreas
Osteoclast-Like Giant Cell Neoplasm of the 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
Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures
Osteogenic Sarcoma
Osteoglophonic Dysplasia
Osteoid Osteoma
Osteolysis Syndrome, Recessive
Osteomalacia
Osteomalacia, Sclerosing, with Cerebral Calcification
Osteoma of Cranial Vault, Familial
Osteoma of Middle Ear
Osteomas of Mandible
Osteomesopyknosis
Osteomyelitis
Osteomyelitis, Sterile Multifocal, with Periostitis and Pustulosis
Osteonecrosis
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
Osteoporotic Fracture
Osteosarcoma Arising in Bone Paget's Disease
Osteosclerosis Abnormalities of Nervous System and Meninges
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Osteosclerosis with Ichthyosis and Fractures
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
Osteosclerotic Chondrodysplasia, Lethal, with Intracellular Inclusions
Osteosclerotic Metaphyseal Dysplasia
Osteosclerotic Myeloma
Otoonychoperoneal Syndrome
Otopalatodigital Spectrum Disorders
Otopalatodigital Syndrome
Otopalatodigital Syndrome, Type I
Otopalatodigital Syndrome, Type Ii
Otospondylomegaepiphyseal Dysplasia
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Overgrowth Syndrome with 2q37 Translocations
Overlap Myositis
Pacman Dysplasia
Paget's Disease of Bone
Paget Disease of Bone 2, Early-Onset
Paget Disease of Bone 3
Paget Disease of Bone 4
Paget Disease of Bone 5, Juvenile-Onset
Paget Disease of Bone 6
Pancreatitis
Pancreatitis, Hereditary
Panner Disease
Panostotic Fibrous Dysplasia
Papular Xanthoma
Parastremmatic Dwarfism
Parietal Foramina
Parietal Foramina 1
Parietal Foramina 2
Parietal Foramina 3
Parietal Foramina with Cleidocranial Dysplasia
Parkes Weber Syndrome
Patella Aplasia-Hypoplasia
Patella Aplasia/hypoplasia, Bilateral
Patella Aplasia/hypoplasia, Unilateral
Patella, Chondromalacia of
Patellofemoral Pain Syndrome
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
Pediatric Osteosarcoma
Pediatric Systemic Lupus Erythematosus
Pelger-Huet Anomaly
Pelvic Hypoplasia with Lower-Limb Arthrogryposis
Pelvis-Shoulder Dysplasia
Penttinen-Aula Syndrome
Periarthritis
Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis
Periodic Fever, Familial, Autosomal Dominant
Periodontal Ehlers-Danlos Syndrome
Periosteal Osteogenic Sarcoma
Peripheral Dysostosis
Peripheral Osteosarcoma
Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 1
Periventricular Nodular Heterotopia 6
Periventricular Nodular Heterotopia 7
Permanent Molars, Secondary Retention of
Petit-Fryns Syndrome
Petrositis
Pfeiffer Syndrome
Phalangeal Microgeodic Syndrome
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia
Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies
Pierre Robin Syndrome Skeletal Dysplasia Polydactyly
Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked
Pigmented Villonodular Synovitis
Plasminogen Deficiency, Type I
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Plica Syndrome
Poems Syndrome
Pointer Syndrome
Poland Syndrome
Polyarteritis Nodosa
Polyarteritis Nodosa, Childhood-Onset
Polyarticular Onset Juvenile Idiopathic Arthritis
Polycystic Bone Disease
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
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 Progressive Myopia
Polydactyly, Preaxial I
Polydactyly, Preaxial Ii
Polydactyly, Preaxial Iii
Polydactyly, Preaxial Iv
Polyglucosan Body Myopathy 1 with or Without Immunodeficiency
Polymyositis
Polysyndactyly, Bilateral
Polysyndactyly, Crossed
Polysyndactyly, Unilateral
Positive Rheumatoid Factor Polyarthritis
Postaxial Acrofacial Dysostosis
Postaxial Oligodactyly, Tetramelic
Postaxial Polydactyly of Toes
Postaxial Polydactyly of Toes, Bilateral
Postaxial Polydactyly Type a, Bilateral
Postaxial Polydactyly Type a, Unilateral
Postaxial Polydactyly Type B, Bilateral
Postaxial Polydactyly Type B, Unilateral
Postinfectious Vasculitis
Prader-Willi Habitus, Osteopenia, and Camptodactyly
Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias
Preaxial Polydactyly of Toes
Premature Aging Syndrome, Okamoto Type
Prenatal Benign Hypophosphatasia
Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures
Primary Angiitis of the Central Nervous System
Primary Bone Cancer
Primary Bone Lymphoma
Primary Cutaneous Plasmacytosis
Primary Hypertrophic Osteoarthropathy
Primary Localized Amyloidosis
Primary Plasmacytoma of the Bone
Primary Polyarteritis Nodosa
Primary Syphilis
Progeria-Associated Arthropathy
Progressive Muscular Atrophy
Progressive Nodular Histiocytosis
Progressive Non-Infectious Anterior Vertebral Fusion
Proteus-Like Syndrome
Proteus Syndrome
Proximal Symphalangism
Pseudoachondroplasia
Pseudodiastrophic Dysplasia
Pseudo-Gaucher Disease
Pseudohermaphroditism, Female, with Skeletal Anomalies
Pseudohypoparathyroidism
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Type Ic
Pseudohypoparathyroidism, Type Ii
Pseudo Pelger-Huet Anomaly
Pseudopseudohypoparathyroidism
Pseudo-Torch Syndrome 1
Pseudo-Torch Syndrome 2
Psoriasis 14, Pustular
Psoriasis 15, Pustular
Psoriatic Juvenile Idiopathic Arthritis
Pubic Bone Dysplasia
Puerto Rican Infant Hypotonia Syndrome
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Pustular Psoriasis
Pycnodysostosis
Pyknoachondrogenesis
Pyle Disease
Pyoderma Gangrenosum
Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne
Pyomyositis
Qazi Markouizos Syndrome
Radial Aplasia, X-Linked
Radial Deficiency-Tibial Hypoplasia Syndrome
Radial Hemimelia
Radial Hemimelia, Bilateral
Radial Hemimelia, Unilateral
Radial-Renal Syndrome
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
Radioulnar Synostosis
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radio-Ulnar Synostosis, Bilateral
Radio-Ulnar Synostosis, Unilateral
Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia
Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation
Raine Syndrome
Ramer Ladda Syndrome
Ramon Syndrome
Rapadilino Syndrome
Reactive Arthritis
Recurrent Acute Pancreatitis
Reginato Shiapachasse Syndrome
Regressive Spondylometaphyseal Dysplasia
Relapsing Polychondritis
Renal Osteodystrophy
Retinitis Pigmentosa with or Without Skeletal Anomalies
Reunion Island Larsen Syndrome
Revesz Syndrome
Reye Syndrome
Reynolds Syndrome
Rheumatic Fever-Related Antigen
Rheumatic Myocarditis
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 Lung Disease
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 Syndrome
Rhyns Syndrome
Richieri Costa Da Silva Syndrome
Rickets
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 Distinctive Facial Appearance and Brachydactyly
Roifman Syndrome
Rosai-Dorfman Disease
Rozin Hertz Goodman Syndrome
Rubinstein Taybi Like Syndrome
Rubinstein-Taybi Syndrome 1
Rubinstein-Taybi Syndrome 2
Saethre-Chotzen Syndrome
Sagliker Syndrome
Sandhaus Ben-Ami Syndrome
Sapho Syndrome
Sarcoidosis 1
Sarcoidosis 2
Sarcoidosis 3
Sarcoma
Satoyoshi Syndrome
Say Carpenter Syndrome
Scalp Defects and Postaxial Polydactyly
Scaphocephaly, Maxillary Retrusion, and Mental Retardation
Scarf Syndrome
Scheie Syndrome
Scheuermann Disease
Schimke Immunoosseous Dysplasia
Schneckenbecken Dysplasia
Schnitzler Syndrome
Scholte Syndrome
Schwartz-Jampel Syndrome, Type 1
Scleroderma, Familial Progressive
Sclerosteosis
Sclerosteosis 1
Sclerosteosis 2
Scoliosis
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 Hypertrophic Osteoarthropathy
Secondary Non-Traumatic Avascular Necrosis
Secondary Polyarteritis Nodosa
Secondary Syphilis
Septic Arthritis
Severe Congenital Neutropenia
Severe Congenital Neutropenia Autosomal Dominant
Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency
Severe Lateral Tibial Bowing with Short Stature
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency
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, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies
Short Stature, Idiopathic, X-Linked
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
Short Stature Syndrome, Brussels Type
Short Stature with Nonspecific Skeletal Abnormalities
Short Stature Wormian Bones Dextrocardia
Shoulder Impingement Syndrome
Shwachman-Diamond Syndrome
Shwachman-Diamond Type Metaphyseal Dysplasia
Sickle Cell Anemia
Simple Cryoglobulinemia
Sinding-Larsen-Johansson Disease
Single-Organ Polyarteritis Nodosa
Singleton-Merten Syndrome
Singleton-Merten Syndrome 1
Singleton-Merten Syndrome 2
Six2-Related Frontonasal Dysplasia
Skeletal Defects, Genital Hypoplasia, and Mental Retardation
Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal
Skeletal Dysplasia Orofacial Anomalies
Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa
Skeletal Dysplasias
Skeletal Dysplasia, San Diego Type
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification
Skeletal-Extraskeletal Angiomatosis
Skeletal Muscle Cancer
Skeletal Tuberculosis
Skeleto Cardiac Syndrome with Thrombocytopenia
Slavotinek Pike Mills Hurst Syndrome
Small Cell Osteogenic Sarcoma
Smith-Lemli-Opitz Syndrome
Smith-Mccort Dysplasia 1
Smith-Mccort Dysplasia 2
Sneddon Syndrome
Solitary Bone Cyst
Solitary Osseous Plasmacytoma
Sost-Related Sclerosing Bone Dysplasias
Sotos Syndrome 1
Sotos Syndrome 2
Sotos Syndrome 3
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 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 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 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-Paget Disease of Bone Syndrome
Specific Bursitis Often of Occupational Origin
Spinal Cord Disease
Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures
Spinal Muscular Atrophy with Congenital Bone Fractures 2
Spinal Stenosis
Splenogonadal Fusion with Limb Defects and Micrognathia
Split-Foot Deformity with Mandibulofacial Dysostosis
Split-Foot Malformation with Mesoaxial Polydactyly
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 with Long Bone Deficiency 2
Split Hand-Split Foot Malformation
Split Hand Split Foot Malformation Autosomal Recessive
Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts
Spondylitis
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
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, 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, 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 with Mental Retardation
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation
Spondylolisthesis
Spondylolysis
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, 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
Spondylosis
Steel Syndrome
Stickler Syndrome
Stickler Syndrome, Type 3
Stickler Syndrome, Type I
Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iv
Stickler Syndrome, Type V
Sting-Associated Vasculopathy, Infantile-Onset
Stratton-Parker Syndrome
Stuve-Wiedemann Syndrome
Sugarman Brachydactyly
Summitt Syndrome
Susac Syndrome
Symphalangism, Distal
Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch
Symphalangism, Proximal, 1a
Symphalangism, Proximal, 1b
Symphalangism with Multiple Anomalies of Hands and Feet
Synchronous Multifocal Osteogenic Sarcoma
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Syndactyly-Polydactyly-Earlobe Syndrome
Syndactyly Type 6
Syndactyly, Type Iii
Syndactyly, Type Iv
Syndactyly, Type V
Synostoses, Tarsal, Carpal, and Digital
Synostosis
Synovial Chondromatosis
Synpolydactyly
Synpolydactyly 1
Synpolydactyly 2
Synpolydactyly 3
Syphilis
Systemic Capillary Leak Syndrome
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 Onset Juvenile Idiopathic Arthritis
Systemic Polyarteritis Nodosa
Systemic Scleroderma
Tabatznik Syndrome
Tafro Syndrome
Takayasu Arteritis
Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals
Tarsal-Carpal Coalition Syndrome
Teebi-Shaltout Syndrome
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
Telangiectatic Osteogenic Sarcoma
Tempi Syndrome
Temporal Arteritis
Temtamy Preaxial Brachydactyly Syndrome
Tenosynovitis
Tenosynovitis of Foot and Ankle
Terminal Osseous Dysplasia
Tetraamelia Syndrome, Autosomal Recessive
Tetramelic Monodactyly
Thanatophoric Dysplasia, Glasgow Variant
Thanatophoric Dysplasia, Type I
Thanatophoric Dysplasia, Type Ii
Theodor Hertz Goodman Syndrome
Thiemann Disease
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Thoracic Dysplasia-Hydrocephalus Syndrome
Thoracolaryngopelvic Dysplasia
Thoracomelic Dysplasia
Three M Syndrome 1
Three M Syndrome 2
Three M Syndrome 3
Thrombocythemia with Distal Limb Defects
Thrombocytopenia-Absent Radius Syndrome
Thrombophilia Due to Histidine-Rich Glycoprotein Deficiency
Thrombophilia Due to Protein C Deficiency, Autosomal Recessive
Thumbs, Stiff, with Brachydactyly Type A1 and Developmental Delay
Thyroid Hormone Metabolism, Abnormal
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
Tibiae Bowed Radial Anomalies Osteopenia Fracture
Tibia, Hypoplasia or Aplasia of, with Polydactyly
Tibial Aplasia-Ectrodactyly Syndrome
Tibial Hemimelia
Tibial Hemimelia, Bilateral
Tibial Hemimelia, Unilateral
Tibio-Fibular Synostosis
Tietz Albinism-Deafness Syndrome
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations
Tooth Ankylosis
Torch Syndrome
Townes-Brocks Syndrome
Townes-Brocks Syndrome 1
Townes-Brocks Syndrome 2
Tracheobronchopathia Osteoplastica
Tracheopathia Osteoplastica
Transient Arthritis
Transient Arthropathy
Transient Neonatal Myasthenia Gravis
Traumatic Avascular Necrosis
Treacher Collins Syndrome 1
Treacher Collins Syndrome 2
Treacher Collins Syndrome 3
Trench Fever
Trichodentoosseous Syndrome
Tricho-Dento-Osseous Syndrome 1
Trichohepatoenteric Syndrome 1
Trichohepatoenteric Syndrome 2
Trichoodontoonychial Dysplasia with Bone Deficiency
Trichorhinophalangeal Syndrome
Trichorhinophalangeal Syndrome Type 1 and 3
Trichorhinophalangeal Syndrome, Type I
Trichorhinophalangeal Syndrome, Type Ii
Trichorhinophalangeal Syndrome, Type Iii
Trigonocephaly-Broad Thumbs Syndrome
Trigonocephaly with Short Stature and Developmental Delay
Triphalangeal Thumbs and Dislocation of Patella
Triphalangeal Thumbs with Brachyectrodactyly
Trochlea of the Humerus, Aplasia of
Tumoral Calcinosis, Hyperphosphatemic, Familial
Type I Ehlers-Danlos Syndrome
Type Ii Mixed Cryoglobulinemia
Ulna and Fibula, Absence of, with Severe Limb Deficiency
Ulna and Fibula, Hypoplasia of
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
Unclassified Vasculitis
Undifferentiated Connective Tissue Disease
Undifferentiated Pleomorphic Sarcoma
Unexplained Long-Lasting Fever/inflammatory Syndrome
Unspecified Juvenile Idiopathic Arthritis
Upington Disease
Vagneur Triolle Ripert Syndrome
Van Bogaert-Hozay Syndrome
Van Buchem Disease
Van Buchem Disease, Type 2
Van Den Bosch Syndrome
Variant Abeta2m Amyloidosis
Vascular Hyalinosis
Vascular Malformation, Primary Intraosseous
Velofacioskeletal Syndrome
Verloes Bourguignon Syndrome
Verloes Van Maldergem Marneffe Syndrome
Viljoen Kallis Voges Syndrome
Villonodular Synovitis
Visceral Calciphylaxis
Vitamin D-Dependent Rickets, Type 2a
Wahab Syndrome
Weaver Syndrome
Webster Deming Syndrome
Wegener Granulomatosis
Weill-Marchesani-Like Syndrome
Weill-Marchesani Syndrome
Weill-Marchesani Syndrome 1
Weill-Marchesani Syndrome 2
Weill-Marchesani Syndrome 3
Weismann-Netter Syndrome
Weyers Acrofacial Dysostosis
Widow's Peak
Wiedemann Oldigs Oppermann Syndrome
Wildervanck Syndrome
Wild Type Abeta2m Amyloidosis
Wild Type Attr Amyloidosis
Wrinkly Skin Syndrome
Wt Limb-Blood Syndrome
Xanthoma Disseminatum
X-Linked Chondrodysplasia Punctata
X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome
Yunis-Varon Syndrome
Zinc, Elevated Plasma
Zygodactyly 1
Zygodactyly Type 2
Zygodactyly Type 3
Zygodactyly Type 4 |
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