Ifap syndrome 2

Preferred Label : Ifap syndrome 2;

Symbol : IFAP2;

CISMeF acronym : IFAP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyosis follicularis, atrichia, and photophobia syndrome 2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sterol regulatory element-binding transcription factor-1 gene (SREBF1, 184756.0001);

Prefixed ID : #619016;

Détails

Origin ID

619016;

UMLS CUI

C5436607;

Genes related to phenotype
- Sterol regulatory element-binding transcription factor 1 [OMIM gene]
HPO term(s)
- Angular cheilitis [HPO term]
- Atrichia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Ichthyosis follicularis [HPO term]
- Keratitis [HPO term]
- Keratoconjunctivitis sicca [HPO term]
- Nail dystrophy [HPO term]
- Perioral erythema [HPO term]
- Photophobia [HPO term]
- Posterior blepharitis [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Ichthyosis follicularis-alopecia-photophobia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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