Hypergalactosemia

Symptom Information:

Symptom ID: HPO:0012024
Synonyms:
Galactosemia [HPO:0012024]
Galactosemia [OMIM:Galactosemia]
Hypergalactosaemia [IBIS,cm]
Quality:
Cross references:
OMIM: "Galactosemia" [OMIM:Galactosemia]
Is a (Direct Parents):
HPO         Impairment of galactose metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carbohydrate metabolism/homeostasis(HPO:0011013)
             Impairment of galactose metabolism(HPO:0004915)
                Hypergalactosemia(HPO:0012024)
MedDRA:
Database Frequency: 6 / 7739
Resource:

All diseases associated with this symptom:

Classic galactosemia (Orphanet:79239)
Galactokinase deficiency (Orphanet:79237)
Galactose epimerase deficiency (Orphanet:79238)
Galactosemia (Orphanet:352)
Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598)
PATENT DUCTUS VENOSUS (OMIM:601466)