Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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expandFacies (D019066)
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expandGrowth Disorders (D006130)
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expandIntellectual Disability (D008607)
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expandRetinitis Pigmentosa (D012174)
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expandSynostosis (D013580)
..Starting node
..expandRadioulnar synostosis retinal pigment abnormalities (C536270)

       Child Nodes:



 Sister Nodes: 
..expandAntley-Bixler Syndrome Phenotype (D054882) Child2
..expandBanki Syndrome (C566228)
..expandCoronal synostosis, syndactyly and jejunal atresia (C536445)
..expandCraniosynostoses (D003398) Child64
..expandDer Kaloustian Mcintosh Silver syndrome (C538217)
..expandHumeroradial Multiple Synostosis Syndrome (C565509)
..expandHumeroradial Synostosis with Craniofacial Anomalies (C566888)
..expandJorgenson Lenz syndrome (C536292)
..expandMesomelia-synostoses syndrome (C537348)
..expandMULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..expandMultiple synostoses syndrome 2 (C537380)
..expandMultiple Synostoses Syndrome 3 (C567839)
..expandNOG-Related-Symphalangism Spectrum Disorder (C536943)
..expandPatella aplasia, coxa vara, tarsal synostosis (C536307)
..expandPrata Libéral Gonçalves syndrome (C538277)
..expandRadioulnar Synostosis (C562408)
..expandRadioulnar synostosis retinal pigment abnormalities (C536270)
..expandRadioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..expandRadioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
..expandRadioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..expandRamer Ladda syndrome (C535284)
..expandSpondylocarpotarsal synostosis (C535780)
..expandSymphalangism of Toes (C566101)
..expandSymphalangism with Multiple Anomalies of Hands and Feet (C566098)
..expandSyndactyly (D013576) Child69
..expandSynostoses, tarsal, carpal, and digital (C538156)
..expandSynostosis of Talus and Calcaneus with Short Stature (C566089)
..expandSynostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
..expandTsukahara Syndrome (C566376)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9582
Name:Radioulnar synostosis retinal pigment abnormalities
Definition:
Alternative IDs:
ParentIDs:MESH:D006130|MESH:D008607|MESH:D012174|MESH:D013580|MESH:D019066
TreeNumbers:C05.116.099.370.894/C536270 |C05.660.906/C536270 |C10.597.606.643/C536270 |C11.270.684/C536270 |C11.768.585.658.500/C536270 |C16.131.621.906/C536270 |C16.320.290.684/C536270 |C23.550.291.812/C536270 |C23.550.393/C536270 |C23.888.592.604.646/C536270 |F03.550.600/C5
Synonyms:
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C536270
MeSH: C536270
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants