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loading...| Preferred Name |
GRACILE SYNDROME |
| Synonyms |
FINNISH LETHAL NEONATAL METABOLIC SYNDROME |
| ID |
http://purl.bioontology.org/ontology/OMIM/603358 |
| altLabel |
FINNISH LETHAL NEONATAL METABOLIC SYNDROME FLNMS LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS FELLMAN SYNDROME GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH |
| cui |
C1864002 |
| Gene Locus |
2q33 |
| Gene Symbol |
GRACILE BCS1L BJS PTD FLNMS MC3DN1 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
603358 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
GRACILE SYNDROME |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0111455 | Human Disease Ontology 123 | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C537934 | Medical Subject Headings | CUI |