Intellectual developmental disorder, X-linked, syndromic, armfield type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, armfield type;

Symbol : MRXSA;

CISMeF acronym : MRXSA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Armfield X-linked mental retardation syndrome;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the family with sequence similarity 50, member A gene (FAM50A, 300453.0001);

Prefixed ID : #300261;

Détails

Origin ID

300261;

UMLS CUI

C1846057;

Currated CISMeF NLP mapping
- Armfield syndrome [DO Concept]
- X-linked intellectual disability Armfield type (disorder) [SNOMED CT concept]
- X-linked intellectual disability, Armfield type [ORDO Disease]
- armfield X-Linked mental retardation syndrome [MeSH concept]
- armfield X-Linked mental retardation syndrome [MeSH Supplementary Concept]
DO Cross reference
- Armfield syndrome [DO Concept]
Genes related to phenotype
- Family with sequence similarity 50, member a [OMIM gene]
HPO term(s)
- Abnormal hand morphology [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Glaucoma [HPO term]
- Intellectual disability [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Prominent forehead [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Strabismus [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Armfield type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked intellectual disability, Armfield type [ORDO Disease]
- armfield X-Linked mental retardation syndrome [MeSH Supplementary Concept]
- armfield X-Linked mental retardation syndrome [MeSH concept]

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

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