Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	CARBAMOYL PHOSPHATE SYNTHETASE I
Synonyms	CPS1
ID	http://purl.bioontology.org/ontology/OMIM/608307
altLabel	CPS1 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM
cui	C0751753 C5193210 C3714958 C1413683
Gene Locus	2q35
Gene Symbol	CPS1 PHN
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/608307.0002 http://purl.bioontology.org/ontology/OMIM/608307.0006 http://purl.bioontology.org/ontology/OMIM/608307.0003 http://purl.bioontology.org/ontology/OMIM/608307.0007 http://purl.bioontology.org/ontology/OMIM/608307.0008 http://purl.bioontology.org/ontology/OMIM/608307.0009 http://purl.bioontology.org/ontology/OMIM/608307.0001 http://purl.bioontology.org/ontology/OMIM/608307.0005 http://purl.bioontology.org/ontology/OMIM/608307.0004 http://purl.bioontology.org/ontology/OMIM/608307.0012 http://purl.bioontology.org/ontology/OMIM/608307.0013 http://purl.bioontology.org/ontology/OMIM/608307.0011 http://purl.bioontology.org/ontology/OMIM/608307.0010
MIMTYPEMEANING	Gene with known sequence
notation	608307
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	CARBAMOYL PHOSPHATE SYNTHETASE I
tui	T047 T033 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/NDFRT/N0000004015	NDFRT	CUI
http://purl.bioontology.org/ontology/LNC/LP71417-7	LOINC	CUI
http://purl.bioontology.org/ontology/CSP/1849-9548	CRISP	CUI
http://purl.bioontology.org/ontology/MDRGER/10058297	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D020165	MESH	CUI
http://purl.bioontology.org/ontology/MDRFRE/10071106	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/765329008	SCTSPA	CUI
http://purl.bioontology.org/ontology/LNC/LA12484-4	LOINC	CUI
http://purl.bioontology.org/ontology/MDRGER/10071106	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10058297	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/765329008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10058297	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10071106	MEDDRA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020165	MSHFRE	CUI