Autosomal Recessive Cutis Laxa Type Iia
Disease ID: disease_node_17137
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| Dbxref | ICD10CM:Q82.8, MIM:219200 |
|---|---|
| Subclassof | DOID_0070141 |
| Data Source | DOID |
| Synonyms | ARCL2A |
| Doid Label | autosomal recessive cutis laxa type IIA |
| Doid Description | An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. |
| Disease Node Id | disease_node_17137 |
| Doid Id | DOID_0070134 |
| Label | Autosomal Recessive Cutis Laxa Type Iia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cutis Laxa Type Ii Classic Type(ID:disease_node_17135) (Disease)