Ichthyosis, hystrix-like, with deafness

Preferred Label : Ichthyosis, hystrix-like, with deafness;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hid syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the connexin 26 gene (GJB2, 121011.0020);

Neoplasia : Squamous cell carcinoma;

Prefixed ID : #602540;

Détails

Origin ID

602540;

UMLS CUI

C1865234;

Automatic exact mappings (from CISMeF team)
- Keratitis – ichthyosis – deafness syndrome [ICD-11 More detail]
- keratitis, ichthyosis, and deafness (KID) syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- HID syndrome [MeSH concept]
- HID syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Gap junction protein, beta-2 [OMIM gene]
HPO term(s)
- Absent eyelashes [HPO term]
- Autosomal dominant inheritance [HPO term]
- Erythroderma [HPO term]
- Hyperkeratosis [HPO term]
- Ichthyosis [HPO term]
- Infantile onset [HPO term]
- Palmoplantar keratoderma [HPO term]
- Pes cavus [HPO term]
- Punctate keratitis [HPO term]
- Scarring alopecia of scalp [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Squamous cell carcinoma [HPO term]
ORDO concept(s)
- KID syndrome [ORDO Disease]
See also inter- (CISMeF)
- KID syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HID syndrome [MeSH Supplementary Concept]
- HID syndrome [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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