loading...| Preferred Name |
Waardenburg syndrome type 4B |
| Synonyms |
Waardenburg syndrome with Hirschsprung disease type 4B |
| Definitions |
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110954 |
| database_cross_reference |
OMIM:613265 |
| definition |
A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. |
| has exact synonym |
Waardenburg syndrome with Hirschsprung disease type 4B WS4B Waardenburg syndrome type IVB |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110954 |
| label |
Waardenburg syndrome type 4B |
| notation |
DOID:0110954 |
| prefLabel |
Waardenburg syndrome type 4B |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/613265 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C567680 | Medical Subject Headings | LOOM |