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WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111807 syndromic microphthalmia 9 Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1.
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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: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: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: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:0111807 syndromic microphthalmia 9 A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1.

11 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:0080636 DOID:0111807
is_a DOID:0050737 DOID:0111807
is_a DOID:0050177 DOID:0111807
is_a DOID:0050155 DOID:0111807
is_a DOID:630 DOID:0111807
is_a DOID:863 DOID:0111807
is_a DOID:0050739 DOID:0111807
is_a DOID:10629 DOID:0111807
is_a DOID:5614 DOID:0111807
is_a DOID:7 DOID:0111807
is_a DOID:4 DOID:0111807

7 Synonyms

Name Type
DOID:0050819 alt_id
anophthalmia-pulmonary hypoplasia syndrome synonym
anophthalmia/microphthalmia and pulmonary hypoplasia synonym
clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations synonym
Matthew-Wood syndrome synonym
pulmonary agenesis microphthalmi and diaphragmatic defect synonym
spear syndrome synonym