Entry Search - 121050 612570 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '121050 612570 (Search in: MIM number)'
Results: 2 entries.

1:
* 612570. FIBRILLIN 2; FBN2
Cytogenetic location: 5q23.3, Genomic coordinates (GRCh38): 5:128,257,909-128,538,245
Matching terms: 612570
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
5q23.3 Contractural arachnodactyly, congenital 121050 AD 3
Macular degeneration, early-onset 616118 AD 3
▲ Close
ICD+
SNOMEDCT: 205821003
▲ Close

2:
# 121050. CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
Cytogenetic location: 5q23.3
Matching terms: 121050
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
5q23.3 Contractural arachnodactyly, congenital 121050 AD 3 FBN2 612570
▲ Close
ICD+
SNOMEDCT: 205821003
ORPHA: 115
DO: 0111595
▲ Close
Search: 121050 612570 (Search in: MIM number)
Results: 2 entries.

1:
* 612570. FIBRILLIN 2; FBN2
Cytogenetic location: 5q23.3, Genomic coordinates (GRCh38): 5:128,257,909-128,538,245
Matching terms: 612570

2:
# 121050. CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
Cytogenetic location: 5q23.3
Matching terms: 121050


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.

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: April 25, 2024