Entry Search - 164780 182212 - OMIM
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Search: '164780 182212 (Search in: MIM number)'
Results: 2 entries.

1:
* 164780. SKI PROTOONCOGENE; SKI
Cytogenetic location: 1p36.33-p36.32, Genomic coordinates (GRCh38): 1:2,228,319-2,310,213
Matching terms: 164780
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1p36.33-p36.32 Shprintzen-Goldberg syndrome 182212 AD 3
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ICD+
SNOMEDCT: 719069008
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2:
# 182212. SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS
Cytogenetic location: 1p36.33-p36.32
Matching terms: 182212
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
1p36.33-p36.32 Shprintzen-Goldberg syndrome 182212 AD 3 SKI 164780
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ICD+
SNOMEDCT: 719069008
ORPHA: 2462
DO: 2340
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Search: 164780 182212 (Search in: MIM number)
Results: 2 entries.

1:
* 164780. SKI PROTOONCOGENE; SKI
Cytogenetic location: 1p36.33-p36.32, Genomic coordinates (GRCh38): 1:2,228,319-2,310,213
Matching terms: 164780

2:
# 182212. SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; SGS
Cytogenetic location: 1p36.33-p36.32
Matching terms: 182212


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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