Elevated 8-dehydrocholesterol

Symptom Information:

Symptom ID: HPO:0003462
Synonyms:
Elevated 8-dehydrocholesterol [OMIM:Elevated 8-dehydrocholesterol]
Quality:
Cross references:
OMIM: "Elevated 8-dehydrocholesterol" [OMIM:Elevated 8-dehydrocholesterol]
Is a (Direct Parents):
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)
                Elevated 8-dehydrocholesterol(HPO:0003462)
MedDRA:
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

CHILD syndrome (Orphanet:139)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)