Ichthyosis, congenital, autosomal recessive 11

Preferred Label : Ichthyosis, congenital, autosomal recessive 11;

Symbol : ARCI11;

CISMeF acronym : ARCI11; ARIH; IFAH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis; IFAH; ARIH; Ichthyosis with hypotrichosis, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the suppression of tumorigenicity 14 gene (ST14, 606797.0001);

Prefixed ID : #602400;

Détails

Origin ID

602400;

UMLS CUI

C1835851;

Automatic exact mappings (from CISMeF team)
- Ichthyosis with hypotrichosis, autosomal recessive [MeSH concept]
- ST14 wt Allele [NCIt concept]
- autosomal recessive congenital ichthyosis 11 [DO Concept]
- ichthyosis with hypotrichosis, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive congenital ichthyosis 11 [DO Concept]
Genes related to phenotype
- St14 transmembrane serine protease matriptase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blepharitis [HPO term]
- Brittle hair [HPO term]
- Congenital ichthyosiform erythroderma [HPO term]
- Corneal opacity [HPO term]
- Curly hair [HPO term]
- Hyperkeratosis [HPO term]
- Hypohidrosis [HPO term]
- Hypotrichosis [HPO term]
- Photophobia [HPO term]
- Pili torti [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse hair [HPO term]
Not associated HPO term(s)
- Abnormality of the nail [HPO term]
ORDO concept(s)
- Ichthyosis-hypotrichosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis with hypotrichosis, autosomal recessive [MeSH concept]
- Ichthyosis-hypotrichosis syndrome [ORDO Disease]
- ichthyosis with hypotrichosis, autosomal recessive [MeSH Supplementary Concept]

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

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