Entry Search - 219750 219800 219900 606272 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '219750 219800 219900 606272 (Search in: MIM number)'
Results: 4 entries.

1:
* 606272. CYSTINOSIN; CTNS
Cytogenetic location: 17p13.2, Genomic coordinates (GRCh38): 17:3,636,459-3,663,103
Matching terms: 606272
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
17p13.2 Cystinosis, atypical nephropathic 219800 AR 3
Cystinosis, late-onset juvenile or adolescent nephropathic 219900 AR 3
Cystinosis, nephropathic 219800 AR 3
Cystinosis, ocular nonnephropathic 219750 AR 3
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ICD+
SNOMEDCT: 22830006, 62332007
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2:
# 219900. CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
Cytogenetic location: 17p13.2
Matching terms: 219900
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
17p13.2 Cystinosis, late-onset juvenile or adolescent nephropathic 219900 AR 3 CTNS 606272
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ICD+
SNOMEDCT: 22830006
ORPHA: 213, 411634
DO: 1064
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3:
# 219750. CYSTINOSIS, ADULT NONNEPHROPATHIC
Cytogenetic location: 17p13.2
Matching terms: 219750
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
17p13.2 Cystinosis, ocular nonnephropathic 219750 AR 3 CTNS 606272
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ICD+
ORPHA: 411641
DO: 1064
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4:
# 219800. CYSTINOSIS, NEPHROPATHIC; CTNS
CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED
Cytogenetic locations: 17p13.2,
Matching terms: 219800
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
17p13.2 Cystinosis, nephropathic 219800 AR 3 CTNS 606272
17p13.2 Cystinosis, atypical nephropathic 219800 AR 3 CTNS 606272
▲ Close
ICD+
SNOMEDCT: 190681003, 62332007
ICD10CM: E72.04
ORPHA: 213, 411629
DO: 1064
▲ Close
Search: 219750 219800 219900 606272 (Search in: MIM number)
Results: 4 entries.

1:
* 606272. CYSTINOSIN; CTNS
Cytogenetic location: 17p13.2, Genomic coordinates (GRCh38): 17:3,636,459-3,663,103
Matching terms: 606272

2:
# 219900. CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
Cytogenetic location: 17p13.2
Matching terms: 219900

3:
# 219750. CYSTINOSIS, ADULT NONNEPHROPATHIC
Cytogenetic location: 17p13.2
Matching terms: 219750

4:
# 219800. CYSTINOSIS, NEPHROPATHIC; CTNS
CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED
Cytogenetic locations: 17p13.2,
Matching terms: 219800


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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