Chromosome 15q11.2 deletion syndrome

Preferred Label : Chromosome 15q11.2 deletion syndrome;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene deletion syndrome caused by deletion of 300 to 500 kb between BP1 and BP2 on 15q11.2;

Prefixed ID : #615656;

Details

Origin ID

615656;

UMLS CUI

C3180937;

Automatic exact mappings (from CISMeF team)
- 15q11.2 microdeletion syndrome [ORDO Disease]
- chromosome 15q11.2 deletion syndrome [DO Concept]
- duplication 15q11-q13 syndrome [MeSH Supplementary Concept]
DO Cross reference
- chromosome 15q11.2 deletion syndrome [DO Concept]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Ataxia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Cleft palate [HPO term]
- Clumsiness [HPO term]
- Delayed speech and language development [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Happy demeanor [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Plagiocephaly [HPO term]
- Seizure [HPO term]
- Slender finger [HPO term]
ORDO concept(s)
- 15q11.2 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 15q11.2 microdeletion syndrome [ORDO Disease]
- chromosome 15q11.2 deletion syndrome [DO Concept]
- microdeletion 15q11.2 [MeSH concept]

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