Details of Disease | DrugMAP

General Information of Disease (ID: DIS1DTBJ)

Disease Name	Obesity, hyperphagia, and developmental delay
Synonyms	OBHD; obesity, hyperphagia, and developmental delay
Disease Hierarchy	DISYKSRF: Genetic disease DIS1DTBJ: Obesity, hyperphagia, and developmental delay
Disease Identifiers	MONDO ID MONDO_0013483 MESH ID C563938 UMLS CUI C3151303 OMIM ID 613886 MedGen ID 462653

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NTRK2	TTKN7QR	Limited	Genetic Variation	[1]
NTRK2	TTKN7QR	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NTRK2	OTD557PU	Strong	Autosomal dominant	[2]
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References

1	Diagnostic value of exome and whole genome sequencing in craniosynostosis.J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.