Details of Disease | DrugMAP

General Information of Disease (ID: DISE8BAQ)

Disease Name	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Synonyms	DIDOD; developmental delay, intellectual disability, obesity, and dysmorphic features; Chung-Jansen syndrome
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISD715V: Hereditary neurological disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISE8BAQ: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Disease Identifiers	MONDO ID MONDO_0035133 UMLS CUI C4693860 OMIM ID 617991 MedGen ID 1641154 Orphanet ID 589905 SNOMED CT ID 1208987006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHIP	OTZY806Z	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.