10 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:16 | integumentary system disease | A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. |
| DOID:421 | hair disease | An integumentary system disease that is located_in hair. |
| 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:0111572 | familial woolly hair syndrome | A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends. |
| DOID:0111574 | autosomal recessive woolly hair 3 | A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0111572 | DOID:0111574 |
| is_a | DOID:0050737 | DOID:0111574 |
| is_a | DOID:0050177 | DOID:0111574 |
| is_a | DOID:421 | DOID:0111574 |
| is_a | DOID:630 | DOID:0111574 |
| is_a | DOID:7 | DOID:0111574 |
| is_a | DOID:0050739 | DOID:0111574 |
| is_a | DOID:4 | DOID:0111574 |
| is_a | DOID:16 | DOID:0111574 |
