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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Mandibuloacral Dysplasia with Type A Lipodystrophy | |
| Synonyms |
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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/NCIT_C123417 |
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| code |
C123417
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| Contributing_Source |
Cellosaurus
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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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| in_subset | ||
| label |
Mandibuloacral Dysplasia with Type A Lipodystrophy
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| Preferred_Name |
Mandibuloacral Dysplasia with Type A Lipodystrophy
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| prefixIRI |
NCIT:C123417
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| prefLabel |
Mandibuloacral Dysplasia with Type A Lipodystrophy
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0432291
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| subClassOf |
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