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/4006-0058

http://purl.bioontology.org/ontology/CSP/1849-5992

http://purl.bioontology.org/ontology/CSP/1849-7560

http://purl.bioontology.org/ontology/CSP/1849-7175

http://purl.bioontology.org/ontology/CSP/1849-4738

http://purl.bioontology.org/ontology/CSP/5005-0002

http://purl.bioontology.org/ontology/CSP/2012-7338

http://purl.bioontology.org/ontology/CSP/0726-9627

http://purl.bioontology.org/ontology/CSP/1849-6719

http://purl.bioontology.org/ontology/CSP/0427-1524

http://purl.bioontology.org/ontology/CSP/2057-3283

http://purl.bioontology.org/ontology/CSP/0727-2535

http://purl.bioontology.org/ontology/CSP/4006-0098

http://purl.bioontology.org/ontology/CSP/0725-9662

http://purl.bioontology.org/ontology/CSP/5000-0055

http://purl.bioontology.org/ontology/CSP/0427-1870

http://purl.bioontology.org/ontology/CSP/5004-0080

http://purl.bioontology.org/ontology/CSP/1849-0171

Inverse of SIB

http://purl.bioontology.org/ontology/CSP/1254-8426

http://purl.bioontology.org/ontology/CSP/1254-7856

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