Intellectual developmental disorder, X-linked, syndromic 12

Preferred Label : Intellectual developmental disorder, X-linked, syndromic 12;

Symbol : MRXS12;

CISMeF acronym : MRXS12;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mental retardation, X-linked, syndromic 12; MRXS12;

Inheritance : X-linked;

Prefixed ID : %309545;

Details

Origin ID

309545;

UMLS CUI

C1839792;

Automatic exact mappings (from CISMeF team)
- X-linked intellectual disability, Wilson type [ORDO Disease]
- syndromic X-linked intellectual disability 12 [DO Concept]
Currated CISMeF NLP mapping
- mental retardation, X-Linked, syndromic 12 [MeSH concept]
- mental retardation, X-Linked, syndromic 12 [MeSH Supplementary Concept]
DO Cross reference
- syndromic X-linked intellectual disability 12 [DO Concept]
HPO term(s)
- Aphasia [HPO term]
- Brachycephaly [HPO term]
- Delayed speech and language development [HPO term]
- Full lips [HPO term]
- Growth failure [HPO term]
- Intellectual disability [HPO term]
- Mandibular prognathia [HPO term]
- Postnatal growth retardation [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Square face [HPO term]
- Thick lower lip vermilion [HPO term]
- Thick upper lip vermilion [HPO term]
- Wide mouth [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Wilson type [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked, syndromic 12 [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic 12 [MeSH concept]

Keyword's position in hierarchy(ies) :

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