loading...| Preferred Name |
Waardenburg syndrome, type 4 |
| Synonyms |
Waardenburg Syndrome, Type Iva |
| ID |
http://purl.bioontology.org/ontology/MESH/C536467 |
| altLabel |
Waardenburg Syndrome, Type Iva Waardenburg-Hirschsprung disease Hirschsprung disease with pigmentary anomaly Shah-Waardenburg syndrome Waardenburg Syndrome With Hirschsprung Disease, Type 4a Waardenburg-Shah syndrome Waardenburg Syndrome, Type 4a |
| cui |
C1848519 |
| HM |
D014849 D006627 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
28 |
| MMR |
20150927 |
| notation |
C536467 |
| prefLabel |
Waardenburg syndrome, type 4 |
| SC |
3 |
| Scope Statement |
An autosomal dominant or recessive form of Waardenburg Syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital SENSORINEURAL HEARING LOSS, and Hirschsprung disease. Mutations in the EDNRB gene have been identified. OMIM: 277580 |
| TERMUI |
T739436 T805520 T739438 T739437 T739433 T805524 T805521 T739434 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |