Autosomal Recessive Cutis Laxa Type Iid
Disease ID: disease_node_17138
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| Dbxref | ICD10CM:Q82.8, MIM:617403 |
|---|---|
| Subclassof | DOID_0070141 |
| Data Source | DOID |
| Synonyms | ARCL2D |
| Doid Label | autosomal recessive cutis laxa type IID |
| Doid Description | An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. |
| Disease Node Id | disease_node_17138 |
| Doid Id | DOID_0070129 |
| Label | Autosomal Recessive Cutis Laxa Type Iid |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cutis Laxa Type Ii Classic Type(ID:disease_node_17135) (Disease)