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Mondo Disease Ontology
| Preferred Name | mandibuloacral dysplasia with type A lipodystrophy | |
| Synonyms |
Mandibuloacral dysplasia with type a lipodystrophy, atypical lipodystrophy, type A, associated with Mandibuloacral dysplasia craniomandibular Dermatodysostosis MADA MANDIBULOACRAL dysplasia with type A lipodystrophy mandibuloacral dysplasia mandibuloacral dysplasia with type A lipodystrophy |
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| Definitions |
A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009557 |
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| database_cross_reference |
OMIM:248370 MESH:C535705 UMLS:C5399785 NCIT:C123417 icd11.foundation:1756335062 Orphanet:90153 SCTID:109419009 MEDGEN:1757618 GARD:3374 DOID:0081128
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|
| definition |
A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.
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| has_broad_synonym |
mandibuloacral dysplasia
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| has_exact_synonym |
mandibuloacral dysplasia with type A lipodystrophy
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| has_related_synonym |
Mandibuloacral dysplasia with type a lipodystrophy, atypical lipodystrophy, type A, associated with Mandibuloacral dysplasia craniomandibular Dermatodysostosis MADA MANDIBULOACRAL dysplasia with type A lipodystrophy
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| IAO_0000233 | ||
| id |
MONDO:0009557
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_subtype_of_a_disorder |
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| label |
mandibuloacral dysplasia with type A lipodystrophy
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| notation |
MONDO:0009557
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| prefLabel |
mandibuloacral dysplasia with type A lipodystrophy
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C123417 http://purl.obolibrary.org/obo/DOID_0081128 http://identifiers.org/mesh/C535705 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1756335062 http://linkedlifedata.com/resource/umls/id/C5399785 http://purl.obolibrary.org/obo/Orphanet_90153 |
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