Gand syndrome - CISMeF

Preferred Label : Gand syndrome;

Symbol : GAND;

CISMeF acronym : MRD18;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 18; MRD18;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the GATA zinc finger domain-containing protein 2B gene (GATAD2B, 614998.0001);

Prefixed ID : #615074;

Details

Origin ID

615074;

UMLS CUI

C3554448;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
- Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 18 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 18 [DO Concept]
Genes related to phenotype
- Gata zinc finger domain-containing protein 2b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Broad forehead [HPO term]
- Broad nasal tip [HPO term]
- Deeply set eye [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Inappropriate laughter [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, severe [HPO term]
- Language impairment [HPO term]
- Long fingers [HPO term]
- Long toe [HPO term]
- Narrow palpebral fissure [HPO term]
- Neonatal hypotonia [HPO term]
- Poor speech [HPO term]
- Short philtrum [HPO term]
- Sparse hair [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Tics [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mental Retardation, Autosomal Dominant 18 [NCIt concept]

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