Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Endocrine System Diseases (D004700)
Parent Node: Genetic Diseases, Inborn (D030342)
..Starting node ..Dwarfism (D004392)
Child Nodes:
........Aarskog Syndrome (C535331) 1
........Abuse dwarfism syndrome (C535569)
........Achondroplasia (D000130) 21
........Acromesomelic dysplasia (C535658) 1
........Acromesomelic dysplasia Campailla-Martinelli type (C535659)
........Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
........Alopecia contractures dwarfism mental retardation (C537051)
........Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
........Anauxetic dysplasia (C538256)
........Astley-Kendall syndrome (C535392)
........Asymmetric Short Stature Syndrome (C566248)
........ATELOSTEOGENESIS, TYPE III (OMIM:108721)
........Bangstad syndrome (C537902)
........Bird headed dwarfism Montreal type (C535448)
........Boomerang dysplasia (C536573)
........Brachydactylous dwarfism Mseleni type (C537086)
........Brachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
........Brunoni syndrome (C537408)
........Bullous Dystrophy, Hereditary Macular Type (C563065)
........Cantu Sanchez-Corona Fragoso syndrome (C535571)
........Chondrodysplasia Calcificans Metaphysealis (C565855)
........Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
........Cockayne Syndrome (D003057) 6
........Congenital Hypothyroidism (D003409) 17
........De Sanctis-Cacchione syndrome (C535992)
........Desbuquois syndrome (C535943)
........Diastrophic dysplasia (C536170)
........Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant (C565626)
........Disproportionate Short Stature with Ptosis and Valvular Heart Lesions (C565094)
........Dwarfism stiff joint ocular abnormalities (C535724)
........Dwarfism tall vertebrae (C535725)
........Dwarfism, Familial, With Muscle Spasms (C563447)
........Dwarfism, Levi Type (C565081)
........Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone (C565615)
........Dwarfism, Pituitary (D004393) 11
........Dwarfism, Proportionate, with Hip Dislocation (C565614)
........Dyggve-Melchior-Clausen syndrome (C535726)
........Dyssegmental dysplasia (C537998)
........Dyssegmental Dysplasia with Glaucoma (C563290)
........Fibrochondrogenesis (C562524)
........Gerodermia osteodysplastica (C537799)
........Growth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
........Hadziselimovic Syndrome (C567850)
........Hypochondroplasia (C562937)
........Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
........Isolated Growth Hormone Deficiency, Type IB (C567564)
........Kenny Caffey syndrome (C537020)
........Keratosis follicularis dwarfism cerebral atrophy (C536158)
........Kniest dysplasia (C537207)
........Laplane Fontaine Lagardere syndrome (C537869)
........Laron Syndrome (D046150) 1
........Megaepiphyseal dwarfism (C536140) 1
........Mental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
........Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations (C565248)
........Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
........Mesomelic dwarfism Reinhardt Pfeiffer type (C537349)
........Metatropic dwarfism (C537356)
........Metatropic Dwarfism, Type II (C581628)
........Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
........Microcephalic osteodysplastic primordial dwarfism, type 3 (C537320)
........Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
........Microcephalic primordial dwarfism Toriello type (C537321)
........Miller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
........Mollica Pavone Antener syndrome (C535809)
........Mulibrey Nanism (D050336) 1
........Nievergelt syndrome (C536120)
........Oculopalatocerebral Syndrome (C564935)
........Oliver-McFarlane syndrome (C536554)
........Parastremmatic dwarfism (C537172)
........Pseudodiastrophic dysplasia (C535826)
........Rapadilino syndrome (C535288)
........Robinow Syndrome, Autosomal Dominant (C562492)
........Rommen Mueller Sybert syndrome (C535871)
........Ruvalcaba Syndrome (C579395)
........Seckel like syndrome type Buebel (C537532)
........Seckel syndrome 1 (C537533)
........Seckel syndrome 2 (C537534)
........Seckel Syndrome 3 (C563881)
........SECKEL SYNDROME 4 (OMIM:613676)
........Short limb dwarfism Al Gazali type (C537598)
........Short Stature And Facioauriculothoracic Malformations (C566457)
........Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
........Short Stature-Obesity Syndrome (C564821)
........Silver-Russell Syndrome (D056730) 1
........Singh Chhaparwal Dhanda syndrome (C537341)
........Spondyloepiphyseal dysplasia tarda, Toledo type (C535787)
........Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
........Synovial Chondromatosis, Familial, with Dwarfism (C566087)
........Thoraco limb dysplasia Rivera type (C536516)
........Thoracomelic Dysplasia (C564773)
........Three M Syndrome 2 (C567862)
........Tryptophanuria With Dwarfism (C562658)
........Weill-Marchesani Syndrome (D056846)
........Weill-Marchesani-Like Syndrome (C567710)
Sister Nodes:
..ACTH Deficiency, Isolated (C562707)
..Adrenal Hyperplasia, Congenital (D000312) 12
..Adrenocortical Hypofunction, Chronic Primary Congenital (C562711)
..Alagille Syndrome (D016738)
..alpha 1-Antitrypsin Deficiency (D019896) 1
..Alpha-2-Deficient Collagen Disease (C565963)
..Anemia, Hemolytic, Congenital (D000745) 68
..Anemia, Hypoplastic, Congenital (D029502) 27
..Angioedemas, Hereditary (D054179) 2
..Ataxia Telangiectasia (D001260) 6
..Atrial Standstill (C563984)
..Autoimmune Lymphoproliferative Syndrome (D056735) 5
..Blood Coagulation Disorders, Inherited (D025861) 70
..Brugada Syndrome (D053840) 9
..CADASIL (D046589) 1
..Camurati-Engelmann Syndrome (D003966) 4
..Cardiomyopathy, Hypertrophic, Familial (D024741) 15
..Cerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..CHARGE Syndrome (D058747)
..Cherubism (D002636) 2
..Chromosome Disorders (D025063) 160
..Cirrhosis, Familial (C566123)
..Complement Factor I Deficiency (C572568)
..Corticosteroid-Binding Globulin Deficiency (C565152)
..Costello Syndrome (D056685)
..Cryoglobulinemia, Familial Mixed (C565141)
..Cystic Fibrosis (D003550) 4
..Donohue Syndrome (D056731) 1
..Dwarfism (D004392) 155
..Epistaxis, Hereditary (C562751)
..Eye Diseases, Hereditary (D015785) 373
..Frasier Syndrome (D052159)
..Genetic Diseases, X-Linked (D040181) 412
..Genetic Diseases, Y-Linked (D050174) 5
..Hajdu-Cheney Syndrome (D031845) 1
..Hemoglobinopathies (D006453) 23
..Hepatic Fibrosis, Congenital (C562378)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Heredodegenerative Disorders, Nervous System (D020271) 543
..Histiocytosis, Familial Lipochrome (C562738)
..Hyper-IgM Immunodeficiency Syndrome (D053306) 3
..Hyperthyroxinemia, Familial Dysalbuminemic (D050010) 1
..Interstitial Pneumonitis, Desquamative, Familial (C562470)
..Kallmann Syndrome (D017436) 9
..Kartagener Syndrome (D007619) 6
..Lennox Gastaut Syndrome (D065768) 1
..Loeys-Dietz Syndrome (D055947) 5
..Marfan Syndrome (D008382) 9
..Metabolism, Inborn Errors (D008661) 886
..Muscular Dystrophies (D009136) 117
..Myasthenic Syndromes, Congenital (D020294) 15
..Nail-Patella Syndrome (D009261) 1
..Neoplastic Syndromes, Hereditary (D009386) 111
..Neutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteogenesis Imperfecta (D010013) 27
..Pain Insensitivity, Congenital (D000699) 2
..Parotidomegaly, Hereditary Bilateral (C566821)
..Pelger-Huet Anomaly (D010381)
..Platelet Glycoprotein IV Deficiency (C564245)
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Prolactin Deficiency, Isolated (C562708)
..Pulmonary Alveolar Microlithiasis (C562405)
..Pycnodysostosis (D058631)
..Rh Deficiency Syndrome (C562717)
..Skin Diseases, Genetic (D012873) 462
..Weill-Marchesani Syndrome (D056846)
..Werner Syndrome (D014898) 1
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3489
Name:	Dwarfism
Definition:	A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Alternative IDs:
ParentIDs:	MESH:D001848\|MESH:D004700\|MESH:D030342
TreeNumbers:	C05.116.099.343 \|C16.320.240 \|C19.297
Synonyms:	Nanism
Slim Mappings:	Endocrine system disease\|Genetic disease (inborn)\|Musculoskeletal disease
Reference:	MedGen: D004392 MeSH: D004392 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants