Coffin-siris syndrome 2

Preferred Label : Coffin-siris syndrome 2;

Symbol : CSS2;

CISMeF acronym : CSS2; MRD14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRD14; Mental retardation, autosomal dominant 14;

Included titles and symbols : Chromosome 1p36.11 duplication syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the AT-rich interaction domain-containing protein 1A gene (ARID1A, 603024.0001);

Prefixed ID : #614607;

Details

Origin ID

614607;

UMLS CUI

C3553247;

Currated CISMeF NLP mapping
- Coffin-Siris syndrome 2 [DO Concept]
DO Cross reference
- Coffin-Siris syndrome 2 [DO Concept]
Genes related to phenotype
- At-rich interaction domain-containing protein 1a [OMIM gene]
HPO term(s)
- Abnormal corpus callosum morphology [HPO term]
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Absent fifth fingernail [HPO term]
- Absent fifth toenail [HPO term]
- Anteverted nares [HPO term]
- Aplasia/Hypoplasia of the distal phalanges of the hand [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Coarse facial features [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertrichosis [HPO term]
- Intellectual disability [HPO term]
- Long eyelashes [HPO term]
- Low anterior hairline [HPO term]
- Macroglossia [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Small nail [HPO term]
- Sparse scalp hair [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
- Visual impairment [HPO term]
- Wide mouth [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Coffin-Siris syndrome [ORDO Disease]
See also inter- (CISMeF)
- ARID1A wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Coffin-Siris syndrome [ORDO Disease]

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