Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A
Synonyms	SMC1-ALPHA
ID	http://purl.bioontology.org/ontology/OMIM/300040
altLabel	SMC1-ALPHA SMC1 SMC1L1 SMC1A STRUCTURAL MAINTENANCE OF CHROMOSOMES 1-LIKE 1 KIAA0178 DXS423E CORNELIA DE LANGE SYNDROME 2
cui	C1822777 C1802395
Gene Locus	Xp11.22-p11.21
Gene Symbol	SMC1L1 CDLS2 SMC1A SMC1 KIAA0178 DXS423E
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/300040.0001 http://purl.bioontology.org/ontology/OMIM/300040.0005 http://purl.bioontology.org/ontology/OMIM/300040.0006 http://purl.bioontology.org/ontology/OMIM/300040.0002 http://purl.bioontology.org/ontology/OMIM/300040.0003 http://purl.bioontology.org/ontology/OMIM/300040.0004
MIMTYPEMEANING	Gene with known sequence
Moved from	600476
notation	300040
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A
tui	T028 T047

Delete	Subject	Author	Type	Created
No notes to display

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/LNC/LP71440-9	Logical Observation Identifier Names and Codes	CUI
	http://purl.bioontology.org/ontology/MESH/D003635	Medical Subject Headings	CUI