Entry Search - 114290 608160 - OMIM
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Search: '114290 608160 (Search in: MIM number)'
Results: 2 entries.

1:
* 608160. SRY-BOX 9; SOX9
XXSR, INCLUDED
Cytogenetic location: 17q24.3, Genomic coordinates (GRCh38): 17:72,121,020-72,126,416
Matching terms: 608160
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17q24.3 46XX sex reversal 2 278850 AD 3
46XY sex reversal 10 616425 AD 3
Acampomelic campomelic dysplasia 114290 AD 3
Campomelic dysplasia 114290 AD 3
Campomelic dysplasia with autosomal sex reversal 114290 AD 3
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ICD+
SNOMEDCT: 74928006
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2:
# 114290. CAMPOMELIC DYSPLASIA; CMPD
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED
Cytogenetic locations: 17q24.3,
Matching terms: 114290
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
17q24.3 Campomelic dysplasia 114290 AD 3 SOX9 608160
17q24.3 Acampomelic campomelic dysplasia 114290 AD 3 SOX9 608160
17q24.3 Campomelic dysplasia with autosomal sex reversal 114290 AD 3 SOX9 608160
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ICD+
ORPHA: 140
DO: 0050463
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Search: 114290 608160 (Search in: MIM number)
Results: 2 entries.

1:
* 608160. SRY-BOX 9; SOX9
XXSR, INCLUDED
Cytogenetic location: 17q24.3, Genomic coordinates (GRCh38): 17:72,121,020-72,126,416
Matching terms: 608160

2:
# 114290. CAMPOMELIC DYSPLASIA; CMPD
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, INCLUDED
Cytogenetic locations: 17q24.3,
Matching terms: 114290


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025