Computer Retrieval of Information on Scientific Projects Thesaurus - autosomal dominant trait - Classes | NCBO BioPortal

Computer Retrieval of Information on Scientific Projects Thesaurus

Last uploaded: August 28, 2024

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Preferred Name	autosomal dominant trait
Synonyms	Saethre Chotzen syndrome
Definitions	full phenotypic expression of a gene carried on the paired autosomes, in both heterozygotes and homozygotes.
ID	http://purl.bioontology.org/ontology/CSP/1254-7792
altLabel	Saethre Chotzen syndrome
cui	C0178491 C0175699
definition	full phenotypic expression of a gene carried on the paired autosomes, in both heterozygotes and homozygotes.
DID	1254-7792
Inverse of RB	http://purl.bioontology.org/ontology/CSP/4000-0286
Inverse of RO	http://purl.bioontology.org/ontology/CSP/0427-1524 http://purl.bioontology.org/ontology/CSP/2012-7338 http://purl.bioontology.org/ontology/CSP/5000-0055 http://purl.bioontology.org/ontology/CSP/1849-7175 http://purl.bioontology.org/ontology/CSP/1849-7560 http://purl.bioontology.org/ontology/CSP/0427-1870 http://purl.bioontology.org/ontology/CSP/1849-4738 http://purl.bioontology.org/ontology/CSP/4006-0098 http://purl.bioontology.org/ontology/CSP/1849-6719 http://purl.bioontology.org/ontology/CSP/0725-9662 http://purl.bioontology.org/ontology/CSP/0727-2535 http://purl.bioontology.org/ontology/CSP/5004-0080 http://purl.bioontology.org/ontology/CSP/1849-5992 http://purl.bioontology.org/ontology/CSP/0726-9627 http://purl.bioontology.org/ontology/CSP/1849-0171 http://purl.bioontology.org/ontology/CSP/5005-0002 http://purl.bioontology.org/ontology/CSP/2057-3283 http://purl.bioontology.org/ontology/CSP/4006-0058
notation	1254-7792
prefLabel	autosomal dominant trait
tui	T032 T047
subClassOf	http://purl.bioontology.org/ontology/CSP/4000-0286

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/SNMI/D4-00C01	SNMI	CUI
	http://purl.bioontology.org/ontology/SCTSPA/83015004	SCTSPA	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/83015004	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/OMIM/134934	OMIM	CUI
	http://purl.bioontology.org/ontology/OMIM/101400	OMIM	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D000168	MSHFRE	CUI
	http://purl.bioontology.org/ontology/OMIM/601622	OMIM	CUI
	http://purl.bioontology.org/ontology/OMIM/176943	OMIM	CUI
	http://purl.bioontology.org/ontology/MESH/D000168	MESH	CUI
	http://www.projecthalo.com/aura#Autosomal-Dominant-Trait	AURA	LOOM
	http://sbmi.uth.tmc.edu/ontology/ochv#C0178491	OCHV	LOOM
	http://sbmi.uth.tmc.edu/ontology/ochv#18302	OCHV	LOOM