Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2
Synonyms	SEDL SPONDYLOEPIPHYSEAL DYSPLASIA TARDA SEDLIN TRAPPC2
ID	http://purl.bioontology.org/ontology/OMIM/300202
altLabel	SEDL SPONDYLOEPIPHYSEAL DYSPLASIA TARDA SEDLIN TRAPPC2
cui	C3541456 C1427889
Gene Locus	Xp22.2-p22.1
Gene Symbol	SEDT SEDL TRAPPC2
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/300202.0012 http://purl.bioontology.org/ontology/OMIM/300202.0010 http://purl.bioontology.org/ontology/OMIM/300202.0011 http://purl.bioontology.org/ontology/OMIM/300202.0001 http://purl.bioontology.org/ontology/OMIM/300202.0006 http://purl.bioontology.org/ontology/OMIM/300202.0007 http://purl.bioontology.org/ontology/OMIM/300202.0008 http://purl.bioontology.org/ontology/OMIM/300202.0005 http://purl.bioontology.org/ontology/OMIM/300202.0003 http://purl.bioontology.org/ontology/OMIM/300202.0004 http://purl.bioontology.org/ontology/OMIM/300202.0002 http://purl.bioontology.org/ontology/OMIM/300202.0009
MIMTYPEMEANING	Gene with known sequence
notation	300202
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2
tui	T019 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/RCD/PG461	RCD	CUI
http://purl.bioontology.org/ontology/LNC/LP71438-3	LOINC	CUI
http://purl.bioontology.org/ontology/SCTSPA/51952004	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10074798	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/51952004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A40	SNMI	CUI
http://purl.bioontology.org/ontology/MEDDRA/10074798	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10074798	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/D010009	MESH	CUI