Details of Disease | DrugMAP

General Information of Disease (ID: DIS37KZJ)

Disease Name	B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
Synonyms	Hoffman syndrome; Bilu syndrome; B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
Disease Hierarchy	DISYKSRF: Genetic disease DIS37KZJ: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
Disease Identifiers	MONDO ID MONDO_0012243 MESH ID C563745 UMLS CUI C1836437 OMIM ID 609296 MedGen ID 332208 SNOMED CT ID 1230295000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TOP2B	TT4NVEM	Moderate	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TOP2B	OTDHKQZ8	Moderate	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.