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Preferred Name

albinism
Synonyms

Hermansky Pudlak syndrome

HPS (Hermansky Pudlak syndrome)
Definitions

general term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
ID

http://purl.bioontology.org/ontology/CSP/1849-0399
altLabel

Hermansky Pudlak syndrome

HPS (Hermansky Pudlak syndrome)
cui

C0079504

C0001916
definition

general term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
DID

1849-0399
Inverse of RB

http://purl.bioontology.org/ontology/CSP/1849-0342

http://purl.bioontology.org/ontology/CSP/2328-1390
notation

1849-0399
prefLabel

albinism
tui

T047
subClassOf

http://purl.bioontology.org/ontology/CSP/1849-0342

http://purl.bioontology.org/ontology/CSP/2328-1390
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http://purl.bioontology.org/ontology/ICD10CM/E70.331 ICD10CM CUI
http://purl.bioontology.org/ontology/MESH/D022861 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/9311003 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D022861 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/X20Ex RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10071775 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004251 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10071775 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D6-A2420 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/9311003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10071775 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10/E70.3 ICD10 CUI
http://purl.bioontology.org/ontology/SNMI/D6-A2400 SNMI CUI
http://purl.bioontology.org/ontology/ICPC2P/A90014 ICPC2P CUI
http://purl.bioontology.org/ontology/MEDDRA/10001557 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/15890002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D000417 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/MTHU037234 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10001557 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D000417 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/15890002 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.3 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.30 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/XE117 RCD CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000348 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10001557 MDRFRE CUI
http://purl.obolibrary.org/obo/MONDO_0043209 MONDO LOOM
http://purl.bioontology.org/ontology/RCTV2/C302700 RCTV2 LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Albinism PEDTERM LOOM
http://purl.bioontology.org/ontology/ICD10/E70.3 ICD10 LOOM
http://id.nlm.nih.gov/mesh/D000417 MDM LOOM
http://localhost/plosthes.2017-1#9565 PLOSTHES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.102 RH-MESH LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:2074 IFAR LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15314 DERMLEX LOOM
http://purl.bioontology.org/ontology/MEDDRA/10001557 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIT_0001842 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.080 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000417 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.102 RH-MESH LOOM
http://purl.obolibrary.org/obo/creno.owl#Albinism CRENO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#858 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C84543 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.040 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/15890002 SNOMEDCT LOOM
rgo:29483 GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085497 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.080 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Albinism CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.040 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.440.102 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84543 NCIT LOOM
http://purl.obolibrary.org/obo/HP_0001022 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0001022 EFO LOOM
http://purl.obolibrary.org/obo/HP_0001022 DOID LOOM
http://purl.obolibrary.org/obo/HP_0001022 SCDO LOOM
http://purl.obolibrary.org/obo/HP_0001022 EFO LOOM
http://purl.obolibrary.org/obo/HP_0001022 HP LOOM
http://purl.obolibrary.org/obo/HP_0001022 HHEAR LOOM
http://purl.obolibrary.org/obo/HP_0001022 DDSS LOOM
http://purl.obolibrary.org/obo/HP_0001022 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0001022 NIFSTD LOOM
https://github.com/mariambasajja/vocablary1/Albinism VODANAUGANDA LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037234 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/D000417 MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.3 ICD10CM LOOM
http://www.vodan-totafrica.info/vocs/vgt/Albinism VODANA-GENERAL LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Albinism RPO LOOM
http://www.co-ode.org/ontologies/galen#Albinism GALEN LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Albinism APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Albinism APAONTO LOOM
http://www.fairdatacollective.com/template-vocabulary/Albinism HMISLAB0115 LOOM
http://www.fairdatacollective.com/template-vocabulary/Albinism EO1 LOOM
http://purl.bioontology.org/ontology/RCD/XE117 RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0043209 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0043209 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0043209 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0043209 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0043209 DOVES LOOM