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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:PCWH syndrome
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Accession:DOID:0090111 term browser browse the term
Definition:A syndrome 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: 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;   neurologic Waardenburg-Shah syndrome
 primary_id: MESH:C563789
 alt_id: OMIM:609136
 xref: ICD10CM:E75.2;   ORDO:163746
For additional species annotation, visit the Alliance of Genome Resources.


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PCWH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISS OMIM:609136 MouseDO NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
ClinVar Annotator: match by term: PCWH Syndrome
ClinVar PMID:1636383, PMID:9462749, PMID:10482261, PMID:10762540, PMID:11026454, PMID:12447940, PMID:15004559, PMID:17855451, PMID:17999358, PMID:19764030, PMID:20127975, PMID:22008330, PMID:24033266, PMID:25741868, PMID:25991456, PMID:26467025, PMID:27240497, PMID:28492532 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Sox10 SRY-box transcription factor 10 severity ISO ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
ClinVar Annotator: match by term: PCWH Syndrome
ClinVar Annotator: match by OMIM:609136
OMIM
ClinVar
PMID:1636383, PMID:9462749, PMID:10482261, PMID:10762540, PMID:11026454, PMID:12447940, PMID:15004559, PMID:17855451, PMID:17999358, PMID:19764030, PMID:20127975, PMID:22008330, PMID:24033266, PMID:25741868, PMID:25991456, PMID:26467025, PMID:27240497, PMID:28492532, PMID:25959061 RGD:12802339 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Waardenburg's syndrome 12
        PCWH syndrome 3
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      gastrointestinal system disease 4623
        Gastrointestinal Diseases 2542
          intestinal disease 1504
            colonic disease 1019
              megacolon 183
                Hirschsprung's disease 182
                  PCWH syndrome 3
paths to the root

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