Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

HYDROXYPROLINEMIA

Synonyms

4-HYDROXY-L-PROLINE OXIDASE DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/237000

altLabel

4-HYDROXY-L-PROLINE OXIDASE DEFICIENCY

cui

C0268531

MIMTYPEMEANING

Other, mainly phenotypes with suspected mendelian basis

notation

237000

OMIM Entry Type

0

OMIM MimType Value

none

prefLabel

HYDROXYPROLINEMIA

tui

T047

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http://purl.obolibrary.org/obo/HP_0003260 Human Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/LNC/LA12517-1 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LA12517-1 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/MESH/C562669 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C562669 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/E72.59 International Classification of Diseases, Version 10 - Clinical Modification CUI