Intellectual developmental disorder, X-linked 99

Preferred Label : Intellectual developmental disorder, X-linked 99;

Symbol : XLID99;

CISMeF acronym : MRX99;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRX99; Mental retardation, X-linked 99;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ubiquitin-specific protease 9, X chromosome gene (USP9X, 300072.0001);

Prefixed ID : #300919;

Details

Origin ID

300919;

UMLS CUI

C3806746;

Automatic exact mappings (from CISMeF team)
- USP9X wt Allele [NCIt concept]
- non-syndromic X-linked intellectual disability 99 [DO Concept]
- ubiquitin specific peptidase 9 X-linked [ORDO Gene]
- ubiquitin specific peptidase 9 X-linked [HGNC gene]
DO Cross reference
- non-syndromic X-linked intellectual disability 99 [DO Concept]
Genes related to phenotype
- Ubiquitin-specific protease 9, X-linked [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autistic behavior [HPO term]
- Broad hallux [HPO term]
- Broad thumb [HPO term]
- Chronic constipation [HPO term]
- Ectopic kidney [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint hyperflexibility [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Prominent forehead [HPO term]
- Relative macrocephaly [HPO term]
- Tracheomalacia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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