Entry Search - 108720 108721 112310 150250 272460 603381 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '108720 108721 112310 150250 272460 603381 (Search in: MIM number)'
Results: 6 entries.

1:
* 603381. FILAMIN B; FLNB
TRUNCATED ACTIN-BINDING PROTEIN, INCLUDED; TABP, INCLUDED
Cytogenetic location: 3p14.3, Genomic coordinates (GRCh38): 3:58,008,422-58,172,251
Matching terms: 603381
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
3p14.3 Atelosteogenesis, type I 108720 AD 3
Atelosteogenesis, type III 108721 AD 3
Boomerang dysplasia 112310 AD 3
Larsen syndrome 150250 AD 3
Spondylocarpotarsal synostosis syndrome 272460 AR 3
▲ Close
ICD+
SNOMEDCT: 254054000, 63387002, 702351004, 725141006, 725142004
▲ Close

2:
# 108720. ATELOSTEOGENESIS, TYPE I; AO1
Cytogenetic location: 3p14.3
Matching terms: 108720
► 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
3p14.3 Atelosteogenesis, type I 108720 AD 3 FLNB 603381
▲ Close
ICD+
SNOMEDCT: 725141006
ORPHA: 1190
DO: 0050648
▲ Close

3:
# 108721. ATELOSTEOGENESIS, TYPE III; AO3
Cytogenetic location: 3p14.3
Matching terms: 108721
► 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
3p14.3 Atelosteogenesis, type III 108721 AD 3 FLNB 603381
▲ Close
ICD+
SNOMEDCT: 725142004
ORPHA: 56305
DO: 0050648
▲ Close

4:
# 112310. BOOMERANG DYSPLASIA; BOOMD
Cytogenetic location: 3p14.3
Matching terms: 112310
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3p14.3 Boomerang dysplasia 112310 AD 3 FLNB 603381
▲ Close
ICD+
SNOMEDCT: 254054000
ORPHA: 1263
DO: 0050680
▲ Close

5:
# 150250. LARSEN SYNDROME; LRS
Cytogenetic location: 3p14.3
Matching terms: 150250
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3p14.3 Larsen syndrome 150250 AD 3 FLNB 603381
▲ Close
ICD+
SNOMEDCT: 63387002
ORPHA: 503
DO: 14764
▲ Close

6:
# 272460. SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT
Cytogenetic location: 3p14.3
Matching terms: 272460
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
3p14.3 Spondylocarpotarsal synostosis syndrome 272460 AR 3 FLNB 603381
▲ Close
ICD+
SNOMEDCT: 702351004
ORPHA: 3275
DO: 0090116
▲ Close
Search: 108720 108721 112310 150250 272460 603381 (Search in: MIM number)
Results: 6 entries.

1:
* 603381. FILAMIN B; FLNB
TRUNCATED ACTIN-BINDING PROTEIN, INCLUDED; TABP, INCLUDED
Cytogenetic location: 3p14.3, Genomic coordinates (GRCh38): 3:58,008,422-58,172,251
Matching terms: 603381

2:
# 108720. ATELOSTEOGENESIS, TYPE I; AO1
Cytogenetic location: 3p14.3
Matching terms: 108720

3:
# 108721. ATELOSTEOGENESIS, TYPE III; AO3
Cytogenetic location: 3p14.3
Matching terms: 108721

4:
# 112310. BOOMERANG DYSPLASIA; BOOMD
Cytogenetic location: 3p14.3
Matching terms: 112310

5:
# 150250. LARSEN SYNDROME; LRS
Cytogenetic location: 3p14.3
Matching terms: 150250

6:
# 272460. SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT
Cytogenetic location: 3p14.3
Matching terms: 272460


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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