Homozygous 11p15-p14 deletion syndrome

Preferred Label : Homozygous 11p15-p14 deletion syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperinsulinism, infantile, with enteropathy and deafness;

Inheritance : Autosomal recessive;

Molecular basis : Contiguous gene syndrome caused by homozygous deletion of approximately 122Kb on chromosome 11p15-p14;

Laboratory abnormalities : Hypoglycemia; Generalized aminoaciduria; Homozygous 122Kb deletion 11p15-p14;

Prefixed ID : #606528;

Details

Origin ID

606528;

UMLS CUI

C1847866;

Currated CISMeF NLP mapping
- homozygous 11p15-p14 deletion syndrome [MeSH concept]
- homozygous 11p15-p14 deletion syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal intestine morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital sensorineural deafness [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Diarrhea [HPO term]
- Enteropathy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized aminoaciduria [HPO term]
- Hyperinsulinemia [HPO term]
- Hypoglycemia [HPO term]
- Renal tubular dysfunction [HPO term]
- Vomiting [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- homozygous 11p15-p14 deletion syndrome [MeSH Supplementary Concept]
- homozygous 11p15-p14 deletion syndrome [MeSH concept]

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