Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:PCWH syndrome
go back to main search page
Accession:DOID:0090111 term browser browse the term
Definition:An autosomal dominant disease that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. (DO)
Synonyms:exact_synonym: Neurologic Waardenburg-Shah syndrome;   PCWH;   Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease;   Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome;   Waardenburg-Shah Syndrome, Neurologic Variant
 primary_id: MESH:C563789;   RDO:0012958
 alt_id: OMIM:609136
 xref: ORDO:163746
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
PCWH syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpz myelin protein zero JBrowse link 13 89,524,204 89,530,070 RGD:13592920
G Polr2f RNA polymerase II subunit F JBrowse link 7 120,380,543 120,392,214 RGD:8554872
G Sox10 SRY-box transcription factor 10 JBrowse link 7 120,393,238 120,403,523 RGD:7240710
RGD:8554872
RGD:12802339

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Waardenburg's syndrome 12
        PCWH syndrome 3
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      gastrointestinal system disease 4373
        Gastrointestinal Diseases 2465
          intestinal disease 1386
            colonic disease 941
              megacolon 153
                Hirschsprung's disease 152
                  PCWH syndrome 3
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.