Human Phenotype Ontology

Last uploaded: February 24, 2022
Preferred Name

Albinism

Synonyms

Achromasia

Albinism

Definitions

An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).

ID

http://purl.obolibrary.org/obo/HP_0001022

database_cross_reference

SNOMEDCT_US:18064000

MSH:D000417

UMLS:C0333913

UMLS:C0001916

SNOMEDCT_US:15890002

definition

An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).

has_exact_synonym

Achromasia

Albinism

has_obo_namespace

human_phenotype

id

HP:0001022

label

Albinism

notation

HP:0001022

prefLabel

Albinism

treeView

http://purl.obolibrary.org/obo/HP_0007513

http://purl.obolibrary.org/obo/HP_0005599

subClassOf

http://purl.obolibrary.org/obo/HP_0007513

http://purl.obolibrary.org/obo/HP_0005599

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http://purl.obolibrary.org/obo/HP_0001022 Human Disease Ontology 123 LOOM
http://purl.obolibrary.org/obo/HP_0001022 Human Disease Ontology 123 SAME_URI
http://purl.bioontology.org/ontology/MESH/D000417 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10/E70.3 International Classification of Diseases, Version 10 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037234 Online Mendelian Inheritance in Man LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84543 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.3 International Classification of Diseases, Version 10 - Clinical Modification LOOM