1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070129 | autosomal recessive cutis laxa type IID | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:37 | skin disease | An integumentary system disease that is located_in skin. |
