Abetalipoproteinemia

Symptom Information:

Symptom ID: HPO:0008181
Synonyms:
Abetalipoproteinaemia [HPO:0008181]
Abetalipoproteinemia [OMIM:Abetalipoproteinemia]
Quality:
Cross references:
OMIM: "Abetalipoproteinemia" [OMIM:Abetalipoproteinemia]
UMLS:C0000744 "Abetalipoproteinaemia" [HPO:0008181]
Is a (Direct Parents):
HPO         Hypobetalipoproteinemia
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)
                Abnormality of the level of lipoprotein cholesterol(HPO:0010979)
                   Hypolipoproteinemia(HPO:0010981)
                      Hypobetalipoproteinemia(HPO:0003563)
                         Abetalipoproteinemia(HPO:0008181)
MedDRA:
Database Frequency: 1 / 7739
Resource:

All diseases associated with this symptom:

Abetalipoproteinemia (Orphanet:14)