HSD10 disease, neonatal type
http://purl.obolibrary.org/obo/MONDO_0018323
HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life. [ Orphanet:391457 ]
Term info
- Orphanet:391457 (MONDO:equivalentTo)
- UMLS:CN204975 (MONDO:equivalentTo)
ordo_clinical_subtype
HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.
http://linkedlifedata.com/resource/umls/id/CN204975, http://purl.obolibrary.org/obo/Orphanet_391457
HSD10 deficiency, neonatal type, 2-methyl-3-hydroxybutyric aciduria, neonatal type, MHBD deficiency, neonatal type, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
MONDO:0018323