|
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:863
|
nervous system disease
|
A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
|
DOID:5614
|
eye disease
|
An eye and adnexa disease that is located_in the eye. |
|
DOID:0050155
|
sensory system disease
|
A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). |
|
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:0080009
|
X-linked dominant disease
|
A X-linked monogenic disease that has_material_basis_in dominant inheritance. |
|
DOID:0050735
|
X-linked monogenic disease
|
A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
|
DOID:10629
|
microphthalmia
|
An eye disease where one or both eyeballs are abnormally small. |
|
DOID:0080636
|
syndromic microphthalmia
|
A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body. |
|
DOID:0111809
|
syndromic microphthalmia 2
|
A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4. |
