Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
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Preferred Name

Cystathioninuria
Synonyms

CSTNU
Definitions

(CSTNU) - Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion.
ID

http://identifiers.org/omim/219500
altLabel

CSTNU
definition

(CSTNU) - Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion.
id

OMIM:219500
notation

OMIM:219500
prefLabel

Cystathioninuria
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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http://identifiers.org/omim/219500 GEXO SAME_URI
http://identifiers.org/omim/219500 RETO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009058 MONDO LOOM
http://www.orpha.net/ORDO/Orphanet_212 ORDO LOOM
http://identifiers.org/omim/219500 GEXO LOOM
http://identifiers.org/omim/219500 RETO LOOM
http://purl.bioontology.org/ontology/OMIM/219500 OMIM LOOM
http://purl.obolibrary.org/obo/OMIM_219500 CCO LOOM
http://purl.obolibrary.org/obo/HP_0003153 HP LOOM
http://purl.obolibrary.org/obo/HP_0003153 UPHENO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129070 NCIT LOOM
http://purl.obolibrary.org/obo/MP_0030689 MP LOOM
http://purl.obolibrary.org/obo/MP_0030689 UPHENO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00003875 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DOID_0090142 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0090142 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0090142 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0090142 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0090142 FNS-H LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/13003007 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU008841 OMIM LOOM
http://purl.bioontology.org/ontology/RCTV2/C304100 RCTV2 LOOM
http://purl.obolibrary.org/obo/NCIT_C129070 BERO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3365 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009058 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009058 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009058 DOVES LOOM