You are using an outdated browser. Please upgrade your browser to improve your experience.
carnitine palmitoyl transferase II deficiency, neonatal form
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
Uniprot Description An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fatal outcome, presenting shortly after birth. It is characterized by respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. recessive.
Mondo Term and Equivalent IDs
MONDO:0012136: carnitine palmitoyl transferase II deficiency, neonatal form
Download Data for carnitine palmitoyl transferase II deficiency, neonatal form
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C563463
OMIM:608836
Orphanet:228308
UMLS:C1833518
MONDO:0012136
High level summary of knowledge for a disease, including descriptions and datasource references.