Mandibuloacral Dysplasia Type B Lipodystrophy
Disease ID: disease_node_15712
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| Dbxref | MIM:608612 |
|---|---|
| Subclassof | DOID_0081127, DOID_0050737 |
| Data Source | DOID |
| Doid Label | mandibuloacral dysplasia type B lipodystrophy |
| Doid Description | A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15712 |
| Doid Id | DOID_0081129 |
| Label | Mandibuloacral Dysplasia Type B Lipodystrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Mandibuloacral Dysplasia(ID:disease_node_15711) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)