WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111437 optic atrophy 7 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.

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: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:574 peripheral nervous system disease A nervous system disease that affects the peripheral nervous system.
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: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:870 neuropathy A nervous system disease that is located_in nerves or nerve cells.
DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:5656 cranial nerve disease A neuropathy that is located_in one of the twelve cranial nerves.
DOID:1891 optic nerve disease A cranial nerve disease that is located_in the optic nerve.
DOID:5723 optic atrophy An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.
DOID:0111437 optic atrophy 7 An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050737 DOID:0111437
is_a DOID:5723 DOID:0111437
is_a DOID:1891 DOID:0111437
is_a DOID:7 DOID:0111437
is_a DOID:4 DOID:0111437
is_a DOID:870 DOID:0111437
is_a DOID:574 DOID:0111437
is_a DOID:630 DOID:0111437
is_a DOID:5656 DOID:0111437
is_a DOID:863 DOID:0111437
is_a DOID:0050739 DOID:0111437
is_a DOID:0050177 DOID:0111437

2 Synonyms

Name Type
OPA7 synonym
optic atrophy 7 with or without auditory neuropathy synonym