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Preferred Name

enzyme deficiency
Synonyms

mucopolysaccharidosis type VII

cystathioninuria

homoserine deaminase deficiency

cystathionase deficiency

N acetyl glutamate synthethase deficiency
Definitions

abnormal and/or pathologic state usually due to mutations in structural genes for enzyme polypeptides, manifesting as metabolic abnormalities.
ID

http://purl.bioontology.org/ontology/CSP/4001-0049
altLabel

mucopolysaccharidosis type VII

cystathioninuria

homoserine deaminase deficiency

cystathionase deficiency

N acetyl glutamate synthethase deficiency
cui

C0149676

C0268616

C0220993

C0085132

C0598385

C3495552
definition

abnormal and/or pathologic state usually due to mutations in structural genes for enzyme polypeptides, manifesting as metabolic abnormalities.
DID

4001-0049
Inverse of RB

http://purl.bioontology.org/ontology/CSP/0944-4756
Inverse of RN

http://purl.bioontology.org/ontology/CSP/1849-5422

http://purl.bioontology.org/ontology/CSP/1849-8747

http://purl.bioontology.org/ontology/CSP/1849-8130

http://purl.bioontology.org/ontology/CSP/1849-9178

http://purl.bioontology.org/ontology/CSP/1849-9435

http://purl.bioontology.org/ontology/CSP/1849-4577

http://purl.bioontology.org/ontology/CSP/1849-9378

http://purl.bioontology.org/ontology/CSP/1849-9548

http://purl.bioontology.org/ontology/CSP/1849-6334

http://purl.bioontology.org/ontology/CSP/1849-9492

http://purl.bioontology.org/ontology/CSP/1849-7346

http://purl.bioontology.org/ontology/CSP/1849-0835

http://purl.bioontology.org/ontology/CSP/1849-0949

http://purl.bioontology.org/ontology/CSP/1849-8113

http://purl.bioontology.org/ontology/CSP/1849-0721

http://purl.bioontology.org/ontology/CSP/1849-6512

http://purl.bioontology.org/ontology/CSP/1849-8690

http://purl.bioontology.org/ontology/CSP/1849-3494

http://purl.bioontology.org/ontology/CSP/1849-5593

http://purl.bioontology.org/ontology/CSP/1849-9151

http://purl.bioontology.org/ontology/CSP/1849-1120

http://purl.bioontology.org/ontology/CSP/1849-8519

http://purl.bioontology.org/ontology/CSP/1849-8920

http://purl.bioontology.org/ontology/CSP/1849-9034

http://purl.bioontology.org/ontology/CSP/4000-0193

http://purl.bioontology.org/ontology/CSP/1849-3722

http://purl.bioontology.org/ontology/CSP/1849-5536

http://purl.bioontology.org/ontology/CSP/1849-9719

http://purl.bioontology.org/ontology/CSP/1849-9662

http://purl.bioontology.org/ontology/CSP/1849-3608

http://purl.bioontology.org/ontology/CSP/1849-6504

http://purl.bioontology.org/ontology/CSP/1849-1576

http://purl.bioontology.org/ontology/CSP/1849-8105

http://purl.bioontology.org/ontology/CSP/1849-8633
notation

4001-0049
prefLabel

enzyme deficiency
tui

T046

T047
subClassOf

http://purl.bioontology.org/ontology/CSP/0944-4756
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICPC2P/T99081 ICPC2P CUI
http://purl.bioontology.org/ontology/SNMI/D6-B4130 SNMI CUI
http://purl.bioontology.org/ontology/OMIM/607657 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/611499 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/219500 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/129456006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/129456006 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C535408 MESH CUI
http://purl.bioontology.org/ontology/RCD/C3041 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/6885006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/6885006 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D6-B4182 SNMI CUI
http://purl.bioontology.org/ontology/OMIM/219500 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/13003007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/13003007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/C3041 RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/E72.19 ICD10CM CUI
http://purl.bioontology.org/ontology/OMIM/253220 OMIM CUI
http://purl.bioontology.org/ontology/MESH/D016538 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/43916004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D6-70260 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10056893 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/43916004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10056921 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D016538 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E76.29 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10056893 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/C3757 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/124470009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/124470009 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003433 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10056921 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10056893 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10056921 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/C562680 MESH CUI
http://sbmi.uth.tmc.edu/ontology/ochv#16648 OCHV LOOM
http://purl.jp/bio/4/id/200906089721920523 IOBC LOOM
http://purl.obolibrary.org/obo/NCIT_C3492 BERO LOOM
http://purl.obolibrary.org/obo/NCIT_C3492 GSSO LOOM
http://purl.bioontology.org/ontology/ICPC2P/T99081 ICPC2P LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0149676 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3492 NCIT LOOM