Mandibuloacral Dysplasia Type A Lipodystrophy
Disease ID: disease_node_15713
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:3374, MIM:248370, ORDO:90153 |
|---|---|
| Subclassof | DOID_0081127 |
| Data Source | DOID |
| Doid Label | mandibuloacral dysplasia type A lipodystrophy |
| Doid Description | A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. |
| Disease Node Id | disease_node_15713 |
| Doid Id | DOID_0081128 |
| Label | Mandibuloacral Dysplasia Type A Lipodystrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Mandibuloacral Dysplasia(ID:disease_node_15711) (Disease)