Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	twist family bHLH transcription factor 1
Synonyms	BPES2 SCS bHLHa38 H-twist Saethre-Chotzen syndrome CRS1
ID	http://www.orpha.net/ORDO/Orphanet_120345
alternative_term	BPES2 SCS bHLHa38 H-twist Saethre-Chotzen syndrome CRS1
hasDbXref	ClinVar:TWIST1 SwissProt:Q15672 Reactome:Q15672 OMIM:601622 Genatlas:TWIST1 Ensembl:ENSG00000122691 HGNC:12428
label	twist family bHLH transcription factor 1
prefixIRI	ORDO:Orphanet_120345
prefLabel	twist family bHLH transcription factor 1
symbol	TWIST1
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/601622	OMIM	LOOM