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:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
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:4535 | hypotrichosis | A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. |
DOID:0110710 | hypotrichosis 13 | A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13. |
9 Relations
Relationship |
Parent Term . Identifier |
Child Term . Identifier |
---|---|---|
is_a | DOID:4535 | DOID:0110710 |
is_a | DOID:0050736 | DOID:0110710 |
is_a | DOID:16 | DOID:0110710 |
is_a | DOID:7 | DOID:0110710 |
is_a | DOID:421 | DOID:0110710 |
is_a | DOID:630 | DOID:0110710 |
is_a | DOID:4 | DOID:0110710 |
is_a | DOID:0050739 | DOID:0110710 |
is_a | DOID:0050177 | DOID:0110710 |