PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Aspartylglucosaminuria

Synonyms
ID

http://www.phoc.org.cn/pmo/class/PMO_00085274

Database_Cross_Reference

OMIM:208400

RCD:C31y7

MTH:NOCODE

DO:DOID:0050461

CHV:0000026275

LCH_NW:sh85008693

HPO:HP:0012068

JABL:41

ICD10CM:E77.1

MSH:D054880

SNM:D-1728

SNOMEDCT_US:54954004

MDR:10068220

NCI:C61273

NDFRT:N0000181095

OMIM:MTHU014368

SNMI:D6-72500

LCH_NW:sh94002845

OMIM:613228

label

Aspartylglucosaminuria

MCID

MC00092583

PMOID

PMO:00085274

prefixIRI

pmo:PMO_00085274

prefLabel

Aspartylglucosaminuria

Synonym

Glycoasparaginases

aspartylglycosaminuria

Deficiencies, AGA

aspartylglucosaminuria

Aspartylglycosylaminase deficiency

Deficiencies, Aspartylglucosamidase

aspartylglucosamidase deficiency

AGU

aspartylglucosamidase (AGA) deficiency

Aspartylglycosaminuria

AGA Deficiency

Deficiency, Aspartylglucosamidase

aspartylglucosaminuria (AGU)

GLYCOSYLASPARAGINASE DEFICIENCY

High urine aspartylglucosamine levels

Aspartylglucosaminurias

Aspartylglucosamidase Deficiency

AGA Deficiencies

GLYCOASPARAGINASE

Aspartylglucosamidase Deficiencies

ASPARTYLGLYCOSAMINURIA

Deficiency, AGA

Aspartylglucosaminidase deficiency

Aspartylglycosaminurias

AGA DEFICIENCY

Glycoasparaginase

Aspartylglycosylaminase defic

ASPARTYLGLUCOSAMINIDASE DEFICIENCY

Aspartylglucosaminuria (disorder)

ASPARTYLGLUCOSAMINURIA

Aspartylglucosaminuria [Disease/Finding]

Tree Number

T9.11.1.12.3.5

T9.8.4.14.3.5

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036680

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0008830 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200555 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200133 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 DOID LOOM
http://purl.obolibrary.org/obo/MP_0011516 MP LOOM
rgo:13272 GAMUTS LOOM
rgo:13272 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_0050461 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 DOID LOOM
http://purl.obolibrary.org/obo/HP_0012068 HP LOOM
http://purl.obolibrary.org/obo/MP_0011516 MP LOOM
http://purl.obolibrary.org/obo/MONDO_0008830 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_93 ORDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050461 NATPRO LOOM
http://identifiers.org/omim/208400 REXO LOOM
http://identifiers.org/omim/208400 GEXO LOOM
http://identifiers.org/omim/208400 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/54954004 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCTV2/C31y700 RCTV2 LOOM
http://purl.bioontology.org/ontology/OMIM/208400 OMIM LOOM
http://purl.bioontology.org/ontology/MESH/D054880 MESH LOOM
http://id.nlm.nih.gov/mesh/D054880 MDM LOOM
http://www.gamuts.net/entity#aspartylglucosaminuria GAMUTS LOOM
http://purl.bioontology.org/ontology/SNMI/D6-72500 SNMI LOOM
http://www.limics.org/hrdo/rdfns#pat_id_5 HRDO LOOM
http://purl.jp/bio/4/id/200906071764804008 IOBC LOOM
http://purl.org/skeletome/bonedysplasia#Aspartylglucosaminuria BDO LOOM
http://purl.obolibrary.org/obo/OMIM_208400 CCO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050461 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050461 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050461 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0026074 OMIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU014368 OMIM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D054880 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068220 MEDDRA LOOM
http://purl.bioontology.org/ontology/RCD/C31y7 RCD LOOM
http://purl.obolibrary.org/obo/HP_0012068 HP LOOM
http://purl.obolibrary.org/obo/HP_0012068 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0011516 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0011516 CHIRO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15068 DERMLEX LOOM
http://purl.obolibrary.org/obo/MONDO_0008830 DOVES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268225 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.100 RH-MESH LOOM