Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
familial hypercholesterolemia (DOID:13810)
Annotations: Rat: (51) Mouse: (47) Human: (51) Chinchilla: (45) Bonobo: (46) Dog: (47) Squirrel: (45) Pig: (47)
Parent Terms Term With Siblings Child Terms
familial chylomicronemia syndrome +   
familial combined hyperlipidemia +   
Familial Hyperbeta- and Prebetalipoproteinemia  
familial hypercholesterolemia +   
A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (DO)
glycogen storage disease IX +   
High Serum Cholesterol, Familial 
Hyperapobetalipoproteinemia  
Hypercholesterolemia +   
Hyperlipoproteinemia Type II, and Deafness 
hyperlipoproteinemia type V  
Hyperlipoproteinemias +   
Hypertriglyceridemia +   
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial  
sitosterolemia +   

Synonyms
Exact Synonyms: FH ;   FHC ;   FHCL1 ;   Fredrickson type IIa hyperlipoproteinemia ;   Fredrickson type IIa lipidaemia ;   HYPERCHOLESTEROLEMIA, FAMILIAL, 1 ;   HYPERCHOLESTEROLEMIC XANTHOMATOSES, FAMILIAL ;   HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL ;   familial hyperbetalipoproteinaemia ;   familial hypercholesteremia ;   familial hypercholesterolemias ;   hyperbetalipoproteinemia ;   type II hyperlipidemia
Narrow Synonyms: LDL RECEPTOR DISORDER
Primary IDs: OMIM:143890
Alternate IDs: OMIA:000499
Xrefs: GARD:10416 ;   ICD10CM:E78.01 ;   NCI:C34704 ;   OMIM:PS143890 ;   ORDO:406
Definition Sources: http://en.wikipedia.org/wiki/Familial_hypercholesterolemia "DO" "DO"

paths to the root