Link to this page
Experimental Factor Ontology
| Preferred Name | mandibuloacral dysplasia with type A lipodystrophy | |
| Synonyms |
Mandibuloacral dysplasia with type a lipodystrophy, atypical craniomandibular Dermatodysostosis lipodystrophy, type A, associated with Mandibuloacral dysplasia MANDIBULOACRAL dysplasia with type A lipodystrophy MADA mandibuloacral dysplasia mandibuloacral dysplasia with type A lipodystrophy |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009557 |
|
| database_cross_reference |
SCTID:109419009 OMIM:248370 NCIT:C123417 UMLS:C5399785 icd11.foundation:1756335062 Orphanet:90153 DOID:0081128 MEDGEN:1757618 MESH:C535705 GARD:3374
|
|
| 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.
|
|
| 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 |
|
| has_broad_synonym |
mandibuloacral dysplasia
|
|
| has_exact_synonym |
mandibuloacral dysplasia with type A lipodystrophy
|
|
| has_related_synonym |
Mandibuloacral dysplasia with type a lipodystrophy, atypical craniomandibular Dermatodysostosis lipodystrophy, type A, associated with Mandibuloacral dysplasia MANDIBULOACRAL dysplasia with type A lipodystrophy MADA
|
|
| IAO_0000233 | ||
| id |
MONDO:0009557
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder |
|
| label |
mandibuloacral dysplasia with type A lipodystrophy
|
|
| notation |
MONDO:0009557
|
|
| preferred label |
mandibuloacral dysplasia with type A lipodystrophy
|
|
| prefLabel |
mandibuloacral dysplasia with type A lipodystrophy
|
|
| see also |
https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy |
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |