Intellectual developmental disorder, X-linked 93

Preferred Label : Intellectual developmental disorder, X-linked 93;

Symbol : XLID93;

CISMeF acronym : MRX93;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, with macrocephaly; Mental retardation, X-linked 93; MRX93;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the bromodomain-and WD repeat domain-containing protein 3 gene (BRWD3, 300553.0001);

Prefixed ID : #300659;

Details

Origin ID

300659;

UMLS CUI

C1970841;

Automatic exact mappings (from CISMeF team)
- bromodomain and WD repeat domain containing 3 [HGNC gene]
- non-syndromic X-linked intellectual disability 93 [DO Concept]
Currated CISMeF NLP mapping
- mental retardation X linked 93 [Disease (Nov.)]
- mental retardation, X-Linked 93 [MeSH concept]
- mental retardation, X-Linked 93 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 93 [DO Concept]
Genes related to phenotype
- Bromodomain- and wd repeat-containing protein 3 [OMIM gene]
HPO term(s)
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Delayed speech and language development [HPO term]
- Frontal bossing [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Long face [HPO term]
- Macrocephaly [HPO term]
- Macrotia [HPO term]
- Pes planus [HPO term]
- Prominent forehead [HPO term]
- Speech delay [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- FG syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation X linked 93 [Disease (Nov.)]
- mental retardation, X-Linked 93 [MeSH Supplementary Concept]
- mental retardation, X-Linked 93 [MeSH concept]

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