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 |