PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Multiple Carboxylase Deficiency
Synonyms
Definitions

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

ID

http://www.phoc.org.cn/pmo/class/PMO_00036670

Database_Cross_Reference

MDR:10028176

MTH:NOCODE

LNC:LP172597-9

MEDCIN:312772

LNC:MTHU046392

NDFRT:N0000002049

SNOMEDCT_US:62151000119109

ICD10CM:D81.819

ICD10CM:D81.81

DO:DOID:857

MSH:D009100

Definition

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

label

Multiple Carboxylase Deficiency

MCID

MC00008467

PMOID

PMO:00036670

prefixIRI

pmo:PMO_00036670

prefLabel

Multiple Carboxylase Deficiency

Synonym

Multiple Carboxylase Deficiency [Disease/Finding]

Carboxylase Deficiency, Multiple

COMBINED CARBOXYLASE DEFIC

multiple carboxylase deficiency

multiple carboxylase deficiency (diagnosis)

Multiple carboxylase deficiency, unspecified

Combined Carboxylase Deficiency

Multiple carboxylase deficiency (disorder)

CARBOXYLASE DEFIC COMBINED

Carboxylase Deficiencies, Multiple

Deficiencies, Combined Carboxylase

MULTIPLE CARBOXYLASE DEFIC

Carboxylase Deficiencies, Combined

DEFIC MULTIPLE CARBOXYLASE

CARBOXYLASE DEFIC MULTIPLE

Deficiencies, Multiple Carboxylase

Combined Carboxylase Deficiencies

Deficiency, Multiple Carboxylase

Multiple carboxylase deficiency

DEFIC COMBINED CARBOXYLASE

Carboxylase Deficiency, Combined

Deficiency, Combined Carboxylase

Multiple Carboxylase Deficiencies

Tree Number

T9.8.4.14.6.4

T9.8.4.14.15.3

T9.11.1.12.6.4

T9.11.1.12.15.3

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036652

http://www.phoc.org.cn/pmo/class/PMO_00036640

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0015454 EFO 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 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0015454 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0015454 DOVES 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 DOID 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 NIFSTD 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.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