WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060971 interstitial lung disease 2 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22.

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:0050161 lower respiratory tract disease A respiratory system disease which involves the lower respiratory tract.
DOID:1579 respiratory system disease A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.
DOID:850 lung disease A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.
DOID:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
DOID:65 connective tissue disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
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:3082 interstitial lung disease A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.
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:0060971 interstitial lung disease 2 An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:3082 DOID:0060971
is_a DOID:0050736 DOID:0060971
is_a DOID:4 DOID:0060971
is_a DOID:17 DOID:0060971
is_a DOID:65 DOID:0060971
is_a DOID:0050177 DOID:0060971
is_a DOID:1579 DOID:0060971
is_a DOID:850 DOID:0060971
is_a DOID:630 DOID:0060971
is_a DOID:0050739 DOID:0060971
is_a DOID:0050161 DOID:0060971
is_a DOID:7 DOID:0060971

0 Synonyms