Details of Disease | DrugMAP

General Information of Disease (ID: DISERDZL)

Disease Name	Mandibular hypoplasia-deafness-progeroid syndrome
Synonyms	mandibular hypoplasia, deafness, progeroid features; mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; MDPL; MDP syndrome; mandibular hypoplasia-hearing loss-progeroid syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DIS51AGT: Premature aging syndrome DISERDZL: Mandibular hypoplasia-deafness-progeroid syndrome
Disease Identifiers	MONDO ID MONDO_0014157 UMLS CUI C3715192 OMIM ID 615381 MedGen ID 811623 Orphanet ID 363649

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
POLD1	OTWO4UCJ	Strong	Autosomal dominant	[1]
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References

1	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.