Autosomal Recessive Cutis Laxa Type Iic
Disease ID: disease_node_17136
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| Dbxref | ICD10CM:Q82.8, MIM:617402 |
|---|---|
| Subclassof | DOID_0070141 |
| Data Source | DOID |
| Doid Label | autosomal recessive cutis laxa type IIC |
| Doid Description | An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. |
| Disease Node Id | disease_node_17136 |
| Doid Id | DOID_0070140 |
| Label | Autosomal Recessive Cutis Laxa Type Iic |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cutis Laxa Type Ii Classic Type(ID:disease_node_17135) (Disease)