WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111132 focal segmental glomerulosclerosis 7 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31.

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:18 urinary system disease A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra.
DOID:557 kidney disease A urinary system disease that is located_in the kidney.
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:2921 glomerulonephritis A nephritis that causes inflammation of the glomeruli located_in kidney.
DOID:0050851 glomerulosclerosis A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
DOID:10952 nephritis A kidney disease that is characterized by an inflammation of the kidneys.
DOID:1312 focal segmental glomerulosclerosis  
DOID:0111132 focal segmental glomerulosclerosis 7 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:1312 DOID:0111132
is_a DOID:0050736 DOID:0111132
is_a DOID:2921 DOID:0111132
is_a DOID:0050739 DOID:0111132
is_a DOID:630 DOID:0111132
is_a DOID:0050177 DOID:0111132
is_a DOID:557 DOID:0111132
is_a DOID:7 DOID:0111132
is_a DOID:0050851 DOID:0111132
is_a DOID:18 DOID:0111132
is_a DOID:10952 DOID:0111132
is_a DOID:4 DOID:0111132

1 Synonyms

Name Type
FSGS7 synonym