Obesity, hyperphagia, and developmental delay

Preferred Label : Obesity, hyperphagia, and developmental delay;

Symbol : OBHD;

CISMeF acronym : OBHD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the neurotrophic tyrosine kinase receptor type 2 gene (NTRK2, 600456.0001);

Prefixed ID : #613886;

Details

Origin ID

613886;

UMLS CUI

C3151303;

Automatic exact mappings (from CISMeF team)
- Early-onset obesity-hyperphagia-severe developmental delay syndrome [ORDO Disease]
- NTRK2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- obesity, hyperphagia, and developmental delay [MeSH concept]
- obesity, hyperphagia, and developmental delay [MeSH Supplementary Concept]
Genes related to phenotype
- Neurotrophic tyrosine kinase, receptor, type 2 [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed myelination [HPO term]
- Facial asymmetry [HPO term]
- Intellectual disability [HPO term]
- Obesity [HPO term]
- Polyphagia [HPO term]
- Poor eye contact [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- obesity, hyperphagia, and developmental delay [MeSH Supplementary Concept]
- obesity, hyperphagia, and developmental delay [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients