Chromosome xp11.22 duplication syndrome

Preferred Label : Chromosome xp11.22 duplication syndrome;

CISMeF acronym : MRX17; MRX31;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 17; MRX31; Mental retardation, X-linked 31; MRX17;

Prefixed ID : #300705;

Details

Origin ID

300705;

UMLS CUI

C0796238;

Automatic exact mappings (from CISMeF team)
- X-linked non-syndromic intellectual disability [ORDO Disease]
- chromosome Xp11.22 duplication syndrome [DO Concept]
- mental retardation, X-Linked 31 [MeSH concept]
- mental retardation, X-Linked 31 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- mental retardation, X-Linked 17 [MeSH concept]
- mental retardation, X-Linked 17 [MeSH Supplementary Concept]
DO Cross reference
- chromosome Xp11.22 duplication syndrome [DO Concept]
HPO term(s)
- Childhood onset [HPO term]
- Delayed speech and language development [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked 31 [MeSH concept]
- mental retardation, X-Linked 31 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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