Intellectual developmental disorder, X-linked, with panhypopituitarism

Preferred Label : Intellectual developmental disorder, X-linked, with panhypopituitarism;

CISMeF acronym : MRGH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, with panhypopituitarism;

Included titles and symbols : Mental retardation, X-linked, with isolated growth hormone deficiency; MRGH; Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency;

Prefixed ID : #300123;

Détails

Origin ID

300123;

UMLS CUI

C2678223;

Automatic exact mappings (from CISMeF team)
- Isolated growth hormone deficiency type III [ORDO Disease]
- mental retardation, X-Linked, with isolated growth hormone deficiency [MeSH Supplementary Concept]
- mental retardation, X-Linked, with isolated growth hormone deficiency [MeSH concept]
- mental retardation, X-Linked, with panhypopituitarism [MeSH concept]
- mental retardation, X-Linked, with panhypopituitarism [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- X-linked intellectual disability with isolated growth hormone deficiency [ORDO Disease]
Genes related to phenotype
- Sry-box 3 [OMIM gene]
HPO term(s)
- Decreased response to growth hormone stimulation test [HPO term]
- Global developmental delay [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability, mild [HPO term]
- Panhypopituitarism [HPO term]
- Short stature [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Isolated growth hormone deficiency type III [ORDO Disease]
- Non-acquired isolated growth hormone deficiency [ORDO Disease]
- X-linked intellectual disability with isolated growth hormone deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked, with panhypopituitarism [MeSH Supplementary Concept]
- mental retardation, X-Linked, with panhypopituitarism [MeSH concept]

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

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