Computer Retrieval of Information on Scientific Projects Thesaurus

Last uploaded: January 31, 2024

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Preferred Name	enzyme deficiency
Synonyms	mucopolysaccharidosis type VII 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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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