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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615381
http://purl.bioontology.org/ontology/OMIM/615381
|
|---|---|
| Preferred Name | MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME |
| Synonyms |
MDPL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MDPL
|
|---|---|
| prefLabel | MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
|
| Gene Symbol |
POLD1
CRCS10
MDPL
IMD120
|
| Scope Statement | Onset of hearing loss in first or second decade [MISCELLANEOUS]
Onset of lipodystrophy in early childhood [MISCELLANEOUS]
Caused by mutation in the polymerase (DNA-directed), delta 1, catalytic subunit gene (POLD1, 174761.0003) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19q13.3-q13.4
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615381
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3715192
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |