8 Parents
Identifier | Name | Description |
---|---|---|
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:225 | syndrome | A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. |
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:0060330 | Rapp-Hodgkin syndrome | An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. |
DOID:2121 | ectodermal dysplasia | A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. |
7 Relations
Relationship |
Parent Term . Identifier |
Child Term . Identifier |
---|---|---|
is_a | DOID:0050736 | DOID:0060330 |
is_a | DOID:2121 | DOID:0060330 |
is_a | DOID:4 | DOID:0060330 |
is_a | DOID:630 | DOID:0060330 |
is_a | DOID:0050177 | DOID:0060330 |
is_a | DOID:225 | DOID:0060330 |
is_a | DOID:0050739 | DOID:0060330 |