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Preferred Name

multiple carboxylase deficiency
Synonyms
Definitions

An amino acid metabolic disorder that involves failures of carboxylation enzymes.
ID

http://purl.obolibrary.org/obo/DOID_857
database_cross_reference

SNOMEDCT_US_2023_03_01:62151000119109

MESH:D009100

ICD10CM:D81.81

UMLS_CUI:C0026755

GARD:3824
definition

An amino acid metabolic disorder that involves failures of carboxylation enzymes.
has close match

MESH:D009100
has exact match

MESH:D009100
has_obo_namespace

disease_ontology
id

DOID:857
in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

multiple carboxylase deficiency
notation

DOID:857
note

An amino acid metabolic disorder that involves failures of carboxylation enzymes.
preferred label

multiple carboxylase deficiency
prefLabel

multiple carboxylase deficiency
subClassOf

http://purl.obolibrary.org/obo/DOID_2978

http://purl.obolibrary.org/obo/DOID_9252
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_857 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_857 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_857 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_857 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_857 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_857 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015454 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_857 DOID LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_857 NATPRO LOOM
http://purl.bioontology.org/ontology/MESH/D009100 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1172966001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/LNC/MTHU046392 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.202.720 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.202.720 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10028176 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0015454 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0015454 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0015454 EFO LOOM
rgo:27610 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.620 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200820 NANDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_462 HRDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15086 DERMLEX LOOM
http://purl.obolibrary.org/obo/DOID_857 CLO LOOM
http://purl.obolibrary.org/obo/DOID_857 BAO LOOM
http://purl.obolibrary.org/obo/DOID_857 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_857 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_857 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0010140 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D009100 RH-MESH LOOM
http://purl.jp/bio/4/id/200906088851058380 IOBC LOOM
http://id.nlm.nih.gov/mesh/D009100 MDM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036670 PMAPP-PMO LOOM
http://www.orpha.net/ORDO/Orphanet_148 ORDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200500 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.620 RH-MESH LOOM