WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0080717 infantile liver failure syndrome 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32.

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:77 gastrointestinal system disease A disease of anatomical entity that is located_in the gastrointestinal tract.
DOID:225 syndrome A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
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:3118 hepatobiliary disease A gastrointestinal system disease that is located_in the liver and/or biliary tract.
DOID:409 liver disease  
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:0080716 infantile liver failure syndrome A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate.
DOID:0080717 infantile liver failure syndrome 1 An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050737 DOID:0080717
is_a DOID:0080716 DOID:0080717
is_a DOID:4 DOID:0080717
is_a DOID:630 DOID:0080717
is_a DOID:0050739 DOID:0080717
is_a DOID:225 DOID:0080717
is_a DOID:7 DOID:0080717
is_a DOID:3118 DOID:0080717
is_a DOID:0050177 DOID:0080717
is_a DOID:77 DOID:0080717
is_a DOID:409 DOID:0080717

0 Synonyms