Pachyonychia congenita 4

Preferred Label : Pachyonychia congenita 4;

Symbol : PC4;

CISMeF acronym : PC4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 6B gene (KRT6B, 148042.0001);

Prefixed ID : #615728;

Details

Origin ID

615728;

UMLS CUI

C3714949;

Automatic exact mappings (from CISMeF team)
- Activated RNA Polymerase II Transcriptional Coactivator p15 [NCIt concept]
- KRT6B wt Allele [NCIt concept]
- PC4 (body structure) [SNOMED CT concept]
- SUB1 regulator of transcription [HGNC gene]
- SUB1 wt Allele [NCIt concept]
- Silicon Phthalocyanine 4 [NCIt concept]
- interferon related developmental regulator 1 [ORDO Gene]
- interferon related developmental regulator 1 [HGNC gene]
- proprotein convertase subtilisin/kexin type 4 [HGNC gene]
Genes related to phenotype
- Keratin 6b, type II [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Nail dystrophy [HPO term]
- Palmoplantar keratoderma [HPO term]
- Steatocystoma multiplex [HPO term]
ORDO concept(s)
- Pachyonychia congenita [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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