| Preferred Name |
Finnish lethal neonatal metabolic syndrome |
| Synonyms |
Lactic Acidosis, Finnish, With Hepatic Hemosiderosis |
| ID |
http://purl.bioontology.org/ontology/MESH/C537934 |
| altLabel |
Lactic Acidosis, Finnish, With Hepatic Hemosiderosis Finnish, lactic acidosis with hepatic hemosiderosis GRACILE syndrome Fellman syndrome |
| cui |
C1864002 |
| Has mapping qualifier | |
| HM |
D000608 D000140 D008661 D002779 D006486 D028361/Q000151 D005317 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D002779 http://purl.bioontology.org/ontology/MESH/D006486 http://purl.bioontology.org/ontology/MESH/D005317 http://purl.bioontology.org/ontology/MESH/D028361 http://purl.bioontology.org/ontology/MESH/D008661 |
| MDA |
20100825 |
| MeSH Frequency |
8 |
| MMR |
20131106 |
| notation |
C537934 |
| prefLabel |
Finnish lethal neonatal metabolic syndrome |
| SC |
3 |
| Scope Statement |
Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death |
| TERMUI |
T808387 T744208 T744210 T755918 T744205 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/603647 | Online Mendelian Inheritance in Man | CUI | |
| http://purl.bioontology.org/ontology/OMIM/603358 | Online Mendelian Inheritance in Man | CUI |