Entry Search - 607273 607642 610883 - OMIM
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Search: '607273 607642 610883 (Search in: MIM number)'
Results: 3 entries.

1:
# 610883. POTOCKI-LUPSKI SYNDROME; PTLS
Cytogenetic location: 17p11.2, Genomic coordinates (GRCh38): 17:16,100,001-22,700,000
Matching terms: 610883
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17p11.2 Potocki-Lupski syndrome 610883 IC 4
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ICD+
SNOMEDCT: 734016004
ORPHA: 1713
DO: 0060853
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2:
* 607273. FOLLICULIN; FLCN
Cytogenetic location: 17p11.2, Genomic coordinates (GRCh38): 17:17,212,212-17,237,330
Matching terms: 607273
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17p11.2 Birt-Hogg-Dube syndrome 135150 AD 3
Colorectal cancer, somatic 114500 3
Pneumothorax, primary spontaneous 173600 AD 3
Renal carcinoma, chromophobe, somatic 144700 3
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ICD+
SNOMEDCT: 1263460007, 328561000119107
ICD10CM: J93.11
ICD9CM: 512.81
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3:
* 607642. RETINOIC ACID-INDUCED GENE 1; RAI1
Cytogenetic location: 17p11.2, Genomic coordinates (GRCh38): 17:17,681,458-17,811,453
Matching terms: 607642
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17p11.2 Smith-Magenis syndrome 182290 AD, IC 3
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ICD+
SNOMEDCT: 401315004
ICD10CM: Q93.88
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Search: 607273 607642 610883 (Search in: MIM number)
Results: 3 entries.

1:
# 610883. POTOCKI-LUPSKI SYNDROME; PTLS
Cytogenetic location: 17p11.2, Genomic coordinates (GRCh38): 17:16,100,001-22,700,000
Matching terms: 610883

2:
* 607273. FOLLICULIN; FLCN
Cytogenetic location: 17p11.2, Genomic coordinates (GRCh38): 17:17,212,212-17,237,330
Matching terms: 607273

3:
* 607642. RETINOIC ACID-INDUCED GENE 1; RAI1
Cytogenetic location: 17p11.2, Genomic coordinates (GRCh38): 17:17,681,458-17,811,453
Matching terms: 607642


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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