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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/603381
http://purl.bioontology.org/ontology/OMIM/603381
|
|---|---|
| Preferred Name | FILAMIN B |
| Synonyms |
ATELOSTEOGENESIS, TYPE I
FH1
BOOMERANG DYSPLASIA
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
FILAMIN, BETA
FILAMIN HOMOLOG 1
LARSEN SYNDROME
ACTIN-BINDING PROTEIN, TRUNCATED
ATELOSTEOGENESIS, TYPE III
TRUNCATED ACTIN-BINDING PROTEIN
ABP276/278
ACTIN-BINDING PROTEIN 276/278
TABP
FLNB
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|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ATELOSTEOGENESIS, TYPE I
FH1
BOOMERANG DYSPLASIA
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
FILAMIN, BETA
FILAMIN HOMOLOG 1
LARSEN SYNDROME
ACTIN-BINDING PROTEIN, TRUNCATED
ATELOSTEOGENESIS, TYPE III
TRUNCATED ACTIN-BINDING PROTEIN
ABP276/278
ACTIN-BINDING PROTEIN 276/278
TABP
FLNB
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|
|---|---|
| prefLabel |
FILAMIN B
|
| Gene Symbol |
AOI
SCT
LRS1
FLNB
|
| notation |
603381
|
| Has allelic variant |
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|
| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
|
| Gene Locus |
3p14.3
|
| Phenotype of |
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|
| tui |
T047
T019
T028
|
| cui |
C0432201
C3668942
C0265283
C1414636
C0175778
C1848934
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|
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