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Mondo Disease Ontology
| Preferred Name | mandibuloacral dysplasia | |
| Synonyms |
mandibuloacral dysplasia with lipodystrophy MAD |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016584 |
|
| database_cross_reference |
OMIMPS:248370 Orphanet:2457 MEDGEN:98485 GARD:11893 UMLS:C0432291 DOID:0081127 NORD:1398 icd11.foundation:1687046570
|
|
| 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.
|
|
| has_exact_synonym |
mandibuloacral dysplasia with lipodystrophy MAD
|
|
| IAO_0000233 | ||
| id |
MONDO:0016584
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
|
| label |
mandibuloacral dysplasia
|
|
| notation |
MONDO:0016584
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|
| prefLabel |
mandibuloacral dysplasia
|
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_0081127 https://omim.org/phenotypicSeries/PS248370 http://identifiers.org/medgen/98485 http://linkedlifedata.com/resource/umls/id/C0432291 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1687046570 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0020087 http://purl.obolibrary.org/obo/MONDO_0015161 |
|
| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020087 http://purl.obolibrary.org/obo/MONDO_0015161 |
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