Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
integumentary system
skeletal system |
| gptkbp:firstDescribed |
1971
|
| gptkbp:hasGeneticCause |
mutation in LMNA gene
mutation in ZMPSTE24 gene |
| gptkbp:hasType |
type A
type B |
| https://www.w3.org/2000/01/rdf-schema#label |
mandibuloacral dysplasia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
248370
|
| gptkbp:symptom |
lipodystrophy
skin atrophy mandibular hypoplasia acroosteolysis delayed closure of cranial sutures |
| gptkbp:synonym |
gptkb:MAD
|
| gptkbp:bfsParent |
gptkb:MNDT
|
| gptkbp:bfsLayer |
7
|