Chromosome 16p12.1 deletion syndrome, 520-kb

Preferred Label : Chromosome 16p12.1 deletion syndrome, 520-kb;

CISMeF acronym : FRA16E;

Type : Phenotype, molecular basis known;

Included titles and symbols : Fragile site, distamycin a type, rare, fra(16)(p12.1); Fragile site 16p12; FRA16E;

Description : There are several phenotypes associated with variation in pericentric region of chromosome 16: see the 16p12.2-p11.2 deletion syndrome (613604); see 611913 for a deletion or duplication at 16p11.2 associated with autism (AUTS14); and see 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay.;

Prefixed ID : #136570;

Details

Origin ID

136570;

UMLS CUI

C3149276;

Automatic exact mappings (from CISMeF team)
- fragile site 16p12 [MeSH concept]
- fragile site 16p12 [MeSH Supplementary Concept]
- fragile site, distamycin A type, rare, fra(16)(p12.1) [HGNC gene]
CISMeF manual mappings
- Chromosome 16p12.1 Deletion Syndrome [NCIt concept]
DO Cross reference
- chromosome 16p12.1 deletion syndrome [DO Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Behavioral abnormality [HPO term]
- Delayed speech and language development [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 16p12.1 Deletion Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

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