Hypocholesterolemia

Symptom Information:

Symptom ID: HPO:0003146
Synonyms:
HYPOCHOLESTEROLAEMIA [HPO:0003146]
Hypocholesterolemia [OMIM:Hypocholesterolemia]
Hypocholesterolaemia [MedDRA:10020961]
Quality:
Cross references:
OMIM: "Hypocholesterolemia" [OMIM:Hypocholesterolemia]
UMLS:C0151718 "HYPOCHOLESTEROLAEMIA" [HPO:0003146]
Is a (Direct Parents):
MedDRA Lipid metabolism and deposit disorders NEC
HPO         Abnormality of cholesterol metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of lipid metabolism(HPO:0003119)
             Abnormality of cholesterol metabolism(HPO:0003107)
                Hypocholesterolemia(HPO:0003146)
MedDRA:
Metabolism and nutrition disorders(MedDRA:10027433)
    Abnormality of lipid metabolism(HPO:0003119)
       Lipid metabolism and deposit disorders NEC(MedDRA:10024581)
          Hypocholesterolemia(HPO:0003146)
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of lipid metabolism(HPO:0003119)
          Lipid metabolism and deposit disorders NEC(MedDRA:10024581)
             Hypocholesterolemia(HPO:0003146)
Database Frequency: 9 / 7739
Resource:

All diseases associated with this symptom:

17p11.2 microduplication syndrome (Orphanet:1713)
Barth syndrome (Orphanet:111)
Chylomicron retention disease (Orphanet:71)
Congenital bile acid synthesis defect type 1 (Orphanet:79301)
Hereditary sensory and autonomic neuropathy with spastic paraplegia (Orphanet:139578)
Leprechaunism (Orphanet:508)
PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
PMM2-CDG (Orphanet:79318)
Smith-Lemli-Opitz syndrome (Orphanet:818)