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Query
Disease
Symptom
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):
HPO
Abnormality of proline metabolism
MedDRA
Abnormality of amino acid 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)