WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060450 Lisch epithelial corneal dystrophy Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19.

1 Ontology

Name
Disease Ontology

13 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:10124 corneal disease An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction.
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:2566 corneal dystrophy  
DOID:0060440 epithelial and subepithelial dystrophy A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane.
DOID:0060450 Lisch epithelial corneal dystrophy An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080009 DOID:0060450
is_a DOID:0060440 DOID:0060450
is_a DOID:10124 DOID:0060450
is_a DOID:7 DOID:0060450
is_a DOID:0050735 DOID:0060450
is_a DOID:4 DOID:0060450
is_a DOID:630 DOID:0060450
is_a DOID:863 DOID:0060450
is_a DOID:2566 DOID:0060450
is_a DOID:0050177 DOID:0060450
is_a DOID:0050155 DOID:0060450
is_a DOID:5614 DOID:0060450

2 Synonyms

Name Type
band-shaped and whorled microcystic synonym
LECD synonym