Intellectual developmental disorder, autosomal recessive 45

Preferred Label : Intellectual developmental disorder, autosomal recessive 45;

Symbol : MRT45;

CISMeF acronym : MRT45;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the F-box only protein 31 gene (FBXO31, 609102.0001);

Prefixed ID : #615979;

Détails

Origin ID

615979;

UMLS CUI

C4014864;

Automatic exact mappings (from CISMeF team)
- FBXO31 wt Allele [NCIt concept]
Genes related to phenotype
- F-box only protein 31 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Coarse facial features [HPO term]
- Deeply set eye [HPO term]
- Intellectual disability [HPO term]
- Prominent supraorbital ridges [HPO term]
- Thick eyebrow [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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

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