Entry Search - 177850 264800 603234 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '177850 264800 603234 (Search in: MIM number)'
Results: 3 entries.

1:
* 603234. ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6
Cytogenetic location: 16p13.11, Genomic coordinates (GRCh38): 16:16,149,565-16,223,494
Matching terms: 603234
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
16p13.11 Arterial calcification, generalized, of infancy, 2 614473 AR 3
Pseudoxanthoma elasticum 264800 AR 3
Pseudoxanthoma elasticum, forme fruste 177850 AD 3
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ICD+
SNOMEDCT: 252246005
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2:
# 177850. PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED
Cytogenetic location: 16p13.11
Matching terms: 177850
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
16p13.11 Pseudoxanthoma elasticum, forme fruste 177850 AD 3 ABCC6 603234
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ICD+
ORPHA: 758
DO: 2738
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3:
# 264800. PSEUDOXANTHOMA ELASTICUM; PXE
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF, INCLUDED
Cytogenetic locations: 16p13.11, 16p12.3, 17q21.33
Matching terms: 264800
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
16p13.11 Pseudoxanthoma elasticum 264800 AR 3 ABCC6 603234
16p12.3 {Pseudoxanthoma elasticum, modifier of severity of} 264800 AR 3 XYLT1 608124
17q21.33 {Pseudoxanthoma elasticum, modifier of severity of} 264800 AR 3 XYLT2 608125
▲ Close
ICD+
SNOMEDCT: 252246005, 72744008
ORPHA: 758
DO: 2738
▲ Close
Search: 177850 264800 603234 (Search in: MIM number)
Results: 3 entries.

1:
* 603234. ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6
Cytogenetic location: 16p13.11, Genomic coordinates (GRCh38): 16:16,149,565-16,223,494
Matching terms: 603234

2:
# 177850. PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED
Cytogenetic location: 16p13.11
Matching terms: 177850

3:
# 264800. PSEUDOXANTHOMA ELASTICUM; PXE
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF, INCLUDED
Cytogenetic locations: 16p13.11, 16p12.3, 17q21.33
Matching terms: 264800


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 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® 1966-2024 Johns Hopkins University.
Printed: June 1, 2024