Intellectual developmental disorder, autosomal dominant 1

Preferred Label : Intellectual developmental disorder, autosomal dominant 1;

Symbol : MRD1;

CISMeF acronym : MRD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 1;

Included titles and symbols : Chromosome 2q23.1 deletion syndrome; Chromosome 2q23.1 duplication syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the methyl-CpG-binding domain protein 5 gene (MBD5, 611472.0001);

Prefixed ID : #156200;

Details

Origin ID

156200;

UMLS CUI

C1969562;

Broader ORDO disease(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Currated CISMeF NLP mapping
- Mental Retardation, Autosomal Dominant 1 [NCIt concept]
- autosomal dominant non-syndromic intellectual disability 1 [DO Concept]
- mental retardation, autosomal dominant 1 [MeSH concept]
- mental retardation, autosomal dominant 1 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 1 [DO Concept]
Genes related to phenotype
- Methyl-cpg-binding domain protein 5 [OMIM gene]
HPO term(s)
- Abnormality of lower lip [HPO term]
- Abnormality of the outer ear [HPO term]
- Abnormality of the pinna [HPO term]
- Aggressive behavior [HPO term]
- Astigmatism [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Bulbous nose [HPO term]
- Cupped ear [HPO term]
- Downturned corners of mouth [HPO term]
- Esotropia [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Feeding difficulties in infancy [HPO term]
- Frontal bossing [HPO term]
- Highly arched eyebrow [HPO term]
- Hypermetropia [HPO term]
- Intellectual disability [HPO term]
- Language impairment [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Open mouth [HPO term]
- Polyphagia [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent nose [HPO term]
- Protruding ear [HPO term]
- Retrognathia [HPO term]
- Sandal gap [HPO term]
- Self-injurious behavior [HPO term]
- Short attention span [HPO term]
- Short chin [HPO term]
- Short foot [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Small hand [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Visual impairment [HPO term]
- Wide mouth [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- 2q23.1 microdeletion syndrome [ORDO Disease]
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
See also inter- (CISMeF)
- MBD5 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Mental Retardation, Autosomal Dominant 1 [NCIt concept]
- autosomal dominant non-syndromic intellectual disability 1 [DO Concept]
- mental retardation, autosomal dominant 1 [MeSH Supplementary Concept]
- mental retardation, autosomal dominant 1 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]

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