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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | mandibuloacral dysplasia | |
| Synonyms |
mandibuloacral dysplasia with lipodystrophy MAD |
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| Definitions |
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0016584 |
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| altLabel |
mandibuloacral dysplasia with lipodystrophy MAD
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|
| definition |
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
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| has_exact_synonym |
mandibuloacral dysplasia with lipodystrophy MAD
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| label |
mandibuloacral dysplasia
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| prefixIRI |
MONDO:0016584
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| prefLabel |
mandibuloacral dysplasia
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| textual definition |
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020087 http://purl.obolibrary.org/obo/MONDO_0015333 http://purl.obolibrary.org/obo/MONDO_0015161 |
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