Hydroxyprolinemia

Symptom Information:

Symptom ID: HPO:0003260
Synonyms:
Hydroxyprolinaemia [HPO:0003260]
Hydroxyprolinemia [OMIM:Hydroxyprolinemia]
Hydroxyprolinaemia [MedDRA:10053148]
Quality:
Cross references:
OMIM: "Hydroxyprolinemia" [OMIM:Hydroxyprolinemia]
UMLS:C0268531 "Hydroxyprolinaemia" [HPO:0003260]
Is a (Direct Parents):
MedDRA Abnormality of amino acid metabolism
HPO         Abnormality of proline metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of amino acid metabolism(HPO:0004337)
                Abnormality of glutamine family amino acid metabolism(HPO:0010902)
                   Abnormality of proline metabolism(HPO:0010907)
                      Hydroxyprolinemia(HPO:0003260)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of amino acid metabolism(HPO:0004337)
          Hydroxyprolinemia(HPO:0003260)
Metabolism and nutrition disorders(MedDRA:10027433)
    Protein and amino acid metabolism disorders NEC(MedDRA:10037008)
       Amino acid metabolism disorders NEC(MedDRA:10036999)
          Abnormality of amino acid metabolism(HPO:0004337)
             Hydroxyprolinemia(HPO:0003260)
Investigations(MedDRA:10022891)
    Protein and chemistry analyses NEC(MedDRA:10037000)
       Protein analyses NEC(MedDRA:10036998)
          Abnormality of amino acid metabolism(HPO:0004337)
             Hydroxyprolinemia(HPO:0003260)
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

HYDROXYPROLINEMIA (OMIM:237000)
Juvenile Paget disease (Orphanet:2801)