loading...| Preferred Name |
GRACILE syndrome |
| Synonyms |
growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death |
| Definitions |
A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111455 |
| database_cross_reference |
OMIM:603358 MESH:C537934 GARD:1 ORDO:53693 SNOMEDCT_US_2022_09_01:703388005 UMLS_CUI:C1864002 |
| definition |
A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. |
| has exact synonym |
growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death Finnish lactic acidosis with hepatic hemosiderosis growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome Fellman disease Finnish lethal neonatal metabolic syndrome FLNMS |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111455 |
| in_subset | |
| label |
GRACILE syndrome |
| notation |
DOID:0111455 |
| prefLabel |
GRACILE syndrome |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/603358 | Online Mendelian Inheritance in Man | LOOM |