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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


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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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease ClinVar PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Sox10 SRY-box transcription factor 10 severity ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:609136
ClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1636383 PMID:9462749 PMID:10482261 PMID:10762540 PMID:11026454 More... RGD:12802339 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Waardenburg syndrome 15
        PCWH syndrome 3
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                Waardenburg syndrome 15
                  PCWH syndrome 3
paths to the root