WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110255 cataract 5 multiple types Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22.

1 Ontology

Name
Disease Ontology

12 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: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: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:83 cataract A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
DOID:110 lens disease An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye.
DOID:0110255 cataract 5 multiple types A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:83 DOID:0110255
is_a DOID:0050736 DOID:0110255
is_a DOID:5614 DOID:0110255
is_a DOID:7 DOID:0110255
is_a DOID:0050739 DOID:0110255
is_a DOID:863 DOID:0110255
is_a DOID:630 DOID:0110255
is_a DOID:0050177 DOID:0110255
is_a DOID:0050155 DOID:0110255
is_a DOID:4 DOID:0110255
is_a DOID:110 DOID:0110255

1 Synonyms

Name Type
CTRCT5 synonym