WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111131 focal segmental glomerulosclerosis 6 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2.

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: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: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:0111131 focal segmental glomerulosclerosis 6 A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050737 DOID:0111131
is_a DOID:1312 DOID:0111131
is_a DOID:2921 DOID:0111131
is_a DOID:630 DOID:0111131
is_a DOID:0050739 DOID:0111131
is_a DOID:0050851 DOID:0111131
is_a DOID:557 DOID:0111131
is_a DOID:0050177 DOID:0111131
is_a DOID:7 DOID:0111131
is_a DOID:10952 DOID:0111131
is_a DOID:18 DOID:0111131
is_a DOID:4 DOID:0111131

1 Synonyms

Name Type
FSGS6 synonym