Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:melanocytes
enteric nervous system |
| gptkbp:alsoKnownAs |
Waardenburg syndrome type IV
|
| gptkbp:category |
neurocristopathy
|
| gptkbp:firstDescribed |
gptkb:Krishna_Shah
1981 |
| https://www.w3.org/2000/01/rdf-schema#label |
Waardenburg-Shah syndrome
|
| gptkbp:ICD-10_code |
Q87.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:EDNRB_gene
SOX10 gene EDN3 gene |
| gptkbp:namedAfter |
gptkb:Krishna_Shah
gptkb:Petrus_Johannes_Waardenburg |
| gptkbp:OMIM |
277580
|
| gptkbp:prevalence |
very rare
|
| gptkbp:signature |
heterochromia iridum
dystopia canthorum white forelock congenital megacolon |
| gptkbp:symptom |
gptkb:Hirschsprung_disease
sensorineural hearing loss pigmentary abnormalities |
| gptkbp:bfsParent |
gptkb:Waardenburg_syndrome
|
| gptkbp:bfsLayer |
7
|