Preferred Name

SRY-BOX 9

Synonyms

ACAMPOMELIC CAMPOMELIC DYSPLASIA

ID

http://purl.bioontology.org/ontology/OMIM/608160

altLabel

ACAMPOMELIC CAMPOMELIC DYSPLASIA

TESTIS-SPECIFIC ENHANCER OF SOX9 CORE

TESCO

SOX9

XYSR

XXSR

CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL

TESTIS-SPECIFIC ENHANCER OF SOX9

46,XY SEX REVERSAL 10

TES

46,XX SEX REVERSAL 2

CAMPOMELIC DYSPLASIA

REGULATORY ELEMENT, ENHANCER, 13

ENH13

SRY-RELATED HMG-BOX GENE 9

ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL

cui

C4225331

C1420331

C1861922

C4723824

C2749215

C3549544

C4747387

C1861923

C4747386

C1842462

Gene Locus

17q24.3-q25.1

Gene Symbol

SOX9

SRA1

CMD1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/608160.0021

http://purl.bioontology.org/ontology/OMIM/608160.0016

http://purl.bioontology.org/ontology/OMIM/608160.0002

http://purl.bioontology.org/ontology/OMIM/608160.0010

http://purl.bioontology.org/ontology/OMIM/608160.0003

http://purl.bioontology.org/ontology/OMIM/608160.0017

http://purl.bioontology.org/ontology/OMIM/608160.0015

http://purl.bioontology.org/ontology/OMIM/608160.0008

http://purl.bioontology.org/ontology/OMIM/608160.0004

http://purl.bioontology.org/ontology/OMIM/608160.0009

http://purl.bioontology.org/ontology/OMIM/608160.0012

http://purl.bioontology.org/ontology/OMIM/608160.0011

http://purl.bioontology.org/ontology/OMIM/608160.0001

http://purl.bioontology.org/ontology/OMIM/608160.0020

http://purl.bioontology.org/ontology/OMIM/608160.0013

http://purl.bioontology.org/ontology/OMIM/608160.0014

http://purl.bioontology.org/ontology/OMIM/608160.0018

http://purl.bioontology.org/ontology/OMIM/608160.0019

http://purl.bioontology.org/ontology/OMIM/608160.0007

http://purl.bioontology.org/ontology/OMIM/608160.0005

http://purl.bioontology.org/ontology/OMIM/608160.0006

MIMTYPEMEANING

Gene with known sequence

notation

608160

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

SRY-BOX 9

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D055036 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D055036 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C564282 Medical Subject Headings / 医学主题词表 CUI