Mandibuloacral Dysplasia with Type A Lipodystrophy

Preferred Label : Mandibuloacral Dysplasia with Type A Lipodystrophy;

NCIt synonyms : MADA;

NCIt 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.;

Details

Origin ID

C123417;

UMLS CUI

C5399785;

Automatic exact mappings (from CISMeF team)
- lamin A/C [ORDO Gene]
Currated CISMeF NLP mapping
- Mandibuloacral dysostosis co-occurrent with type A lipodystrophy (disorder) [SNOMED CT concept]
- Mandibuloacral dysplasia with type A lipodystrophy [ORDO Disease]
- Mandibuloacral dysplasia with type A lipodystrophy [MeSH concept]
- Mandibuloacral dysplasia with type A lipodystrophy [ICD-11 More detail]
- Mandibuloacral dysplasia with type a lipodystrophy [OMIM Phenotype]
- mandibuloacral dysplasia with type A lipodystrophy [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Mandibuloacral dysplasia [ORDO Disease]
- adenosine monophosphate deaminase 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mandibuloacral dysostosis (disorder) [SNOMED CT concept]
- Mandibuloacral dysostosis co-occurrent with type A lipodystrophy (disorder) [SNOMED CT concept]
- Mandibuloacral dysplasia [ORDO Disease]
- Mandibuloacral dysplasia with type A lipodystrophy [ORDO Disease]
- Mandibuloacral dysplasia with type A lipodystrophy [MeSH concept]
- Mandibuloacral dysplasia with type A lipodystrophy [ICD-11 More detail]
- Mandibuloacral dysplasia with type a lipodystrophy [OMIM Phenotype]
- mandibuloacral dysplasia with type A lipodystrophy [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Mandibuloacral dysostosis (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- LMNA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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