11 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| DOID:4 | disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
| DOID:37 | skin disease | An integumentary system disease that is located_in skin. |
| DOID:16 | integumentary system disease | A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. |
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
| DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| DOID:0070141 | autosomal recessive cutis laxa type II classic type | A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. |
| 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. |
| DOID:3144 | cutis laxa | A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0070141 | DOID:0070129 |
| is_a | DOID:0050739 | DOID:0070129 |
| is_a | DOID:0050177 | DOID:0070129 |
| is_a | DOID:37 | DOID:0070129 |
| is_a | DOID:3144 | DOID:0070129 |
| is_a | DOID:7 | DOID:0070129 |
| is_a | DOID:0050737 | DOID:0070129 |
| is_a | DOID:630 | DOID:0070129 |
| is_a | DOID:16 | DOID:0070129 |
| is_a | DOID:4 | DOID:0070129 |
