Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:9587
Name:Radius absent anogenital anomalies
Definition:
Alternative IDs:
ParentIDs:MESH:D001848|MESH:D006849|MESH:D007021|MESH:D040181
TreeNumbers:C05.116.099/C535281 |C10.228.140.602/C535281 |C10.228.140.631.450/C535281 |C12.294.494.400/C535281 |C12.706.516/C535281 |C13.351.875.466/C535281 |C16.131.939.516/C535281 |C16.320.322/C535281
Synonyms:Radial Aplasia And Anogenital Anomalies |Radial aplasia, X-linked
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C535281
MeSH: C535281
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants