Preferred Name

TWIST FAMILY bHLH TRANSCRIPTION FACTOR 1

Synonyms

CRANIOSYNOSTOSIS 1

ID

http://purl.bioontology.org/ontology/OMIM/601622

altLabel

CRANIOSYNOSTOSIS 1

ROBINOW-SORAUF SYNDROME

TWIST1

TWIST, DROSOPHILA, HOMOLOG OF, 1

SAETHRE-CHOTZEN SYNDROME

SWEENEY-COX SYNDROME

TRANSCRIPTION FACTOR TWIST

TWIST

SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES

cui

C1867146

C4551902

C4540299

C1863370

C0175699

C1421244

Gene Locus

7p21

Gene Symbol

SWCOS

TWIST1

SCS

CRS1

ACS3

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601622.0008

http://purl.bioontology.org/ontology/OMIM/601622.0015

http://purl.bioontology.org/ontology/OMIM/601622.0003

http://purl.bioontology.org/ontology/OMIM/601622.0016

http://purl.bioontology.org/ontology/OMIM/601622.0011

http://purl.bioontology.org/ontology/OMIM/601622.0010

http://purl.bioontology.org/ontology/OMIM/601622.0012

http://purl.bioontology.org/ontology/OMIM/601622.0004

http://purl.bioontology.org/ontology/OMIM/601622.0005

http://purl.bioontology.org/ontology/OMIM/601622.0009

http://purl.bioontology.org/ontology/OMIM/601622.0002

http://purl.bioontology.org/ontology/OMIM/601622.0001

http://purl.bioontology.org/ontology/OMIM/601622.0013

http://purl.bioontology.org/ontology/OMIM/601622.0014

http://purl.bioontology.org/ontology/OMIM/601622.0007

http://purl.bioontology.org/ontology/OMIM/601622.0006

MIMTYPEMEANING

Gene with known sequence

notation

601622

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TWIST FAMILY bHLH TRANSCRIPTION FACTOR 1

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D000168 Medical Subject Headings / 医学主题词表 CUI
http://www.orpha.net/ORDO/Orphanet_120345 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D003398 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LP33176-6 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/C537183 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C566325 Medical Subject Headings / 医学主题词表 CUI