Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

FILAMIN A
Synonyms

ABP280

TERMINAL OSSEOUS DYSPLASIA

FILAMIN 1

CARDIAC VALVULAR DYSPLASIA, X-LINKED

MELNICK-NEEDLES SYNDROME

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

FLN

HETEROTOPIA, PERIVENTRICULAR NODULAR, 1

FLNA

OTOPALATODIGITAL SYNDROME, TYPE I

HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED, WITH FRONTOMETAPHYSEAL DYSPLASIA

ACTIN-BINDING PROTEIN 280

CONGENITAL SHORT BOWEL SYNDROME, X-LINKED

HETEROTOPIA, PERIVENTRICULAR, 1

FRONTOMETAPHYSEAL DYSPLASIA 1

FILAMIN, ALPHA

OTOPALATODIGITAL SYNDROME, TYPE II

FG SYNDROME 2

OTOPALATODIGITAL SPECTRUM DISORDER

FLN1

HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/300017

altLabel

ABP280

TERMINAL OSSEOUS DYSPLASIA

FILAMIN 1

CARDIAC VALVULAR DYSPLASIA, X-LINKED

MELNICK-NEEDLES SYNDROME

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

FLN

HETEROTOPIA, PERIVENTRICULAR NODULAR, 1

FLNA

OTOPALATODIGITAL SYNDROME, TYPE I

HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED, WITH FRONTOMETAPHYSEAL DYSPLASIA

ACTIN-BINDING PROTEIN 280

CONGENITAL SHORT BOWEL SYNDROME, X-LINKED

HETEROTOPIA, PERIVENTRICULAR, 1

FRONTOMETAPHYSEAL DYSPLASIA 1

FILAMIN, ALPHA

OTOPALATODIGITAL SYNDROME, TYPE II

FG SYNDROME 2

OTOPALATODIGITAL SPECTRUM DISORDER

FLN1

HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME

cui

C2748918

C4225602

C0262436

C1414635

C3806579

C4225601

C1844696

C1845902

C2746068

C0025237

C4281559

C1846129

C1848213

C0265251

C4016451

Gene Locus

Xq28

Gene Symbol

CSBS

FLNA

OPD1

NHBP

CVD1

FLN1

FGS2

FMD

OPD2

MNS

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/300017.0016

http://purl.bioontology.org/ontology/OMIM/300017.0012

http://purl.bioontology.org/ontology/OMIM/300017.0015

http://purl.bioontology.org/ontology/OMIM/300017.0014

http://purl.bioontology.org/ontology/OMIM/300017.0017

http://purl.bioontology.org/ontology/OMIM/300017.0018

http://purl.bioontology.org/ontology/OMIM/300017.0019

http://purl.bioontology.org/ontology/OMIM/300017.0011

http://purl.bioontology.org/ontology/OMIM/300017.0010

http://purl.bioontology.org/ontology/OMIM/300017.0013

http://purl.bioontology.org/ontology/OMIM/300017.0002

http://purl.bioontology.org/ontology/OMIM/300017.0001

http://purl.bioontology.org/ontology/OMIM/300017.0008

http://purl.bioontology.org/ontology/OMIM/300017.0009

http://purl.bioontology.org/ontology/OMIM/300017.0007

http://purl.bioontology.org/ontology/OMIM/300017.0004

http://purl.bioontology.org/ontology/OMIM/300017.0005

http://purl.bioontology.org/ontology/OMIM/300017.0003

http://purl.bioontology.org/ontology/OMIM/300017.0006

http://purl.bioontology.org/ontology/OMIM/300017.0022

http://purl.bioontology.org/ontology/OMIM/300017.0025

http://purl.bioontology.org/ontology/OMIM/300017.0029

http://purl.bioontology.org/ontology/OMIM/300017.0021

http://purl.bioontology.org/ontology/OMIM/300017.0027

http://purl.bioontology.org/ontology/OMIM/300017.0020

http://purl.bioontology.org/ontology/OMIM/300017.0024

http://purl.bioontology.org/ontology/OMIM/300017.0026

http://purl.bioontology.org/ontology/OMIM/300017.0028

http://purl.bioontology.org/ontology/OMIM/300017.0038

http://purl.bioontology.org/ontology/OMIM/300017.0036

http://purl.bioontology.org/ontology/OMIM/300017.0031

http://purl.bioontology.org/ontology/OMIM/300017.0030

http://purl.bioontology.org/ontology/OMIM/300017.0032

http://purl.bioontology.org/ontology/OMIM/300017.0037

http://purl.bioontology.org/ontology/OMIM/300017.0033

http://purl.bioontology.org/ontology/OMIM/300017.0034

http://purl.bioontology.org/ontology/OMIM/300017.0035

MIMTYPEMEANING

Gene with known sequence

notation

300017

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

FILAMIN A

tui

T047

T033

T019

T028

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567577 MESH CUI
http://purl.bioontology.org/ontology/MESH/C535576 MESH CUI
http://purl.bioontology.org/ontology/LNC/LP71422-7 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10084420 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C537923 MESH CUI
http://purl.bioontology.org/ontology/MESH/C535532 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/13449007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C564554 MESH CUI
http://purl.bioontology.org/ontology/MESH/D054091 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/54036001 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10084408 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/784010006 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/784010006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10084408 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10084408 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1186709006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/1186709006 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10084420 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10084420 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/C538089 MESH CUI
http://purl.bioontology.org/ontology/RCD/PKy57 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/42432003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/42432003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-00813 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X78Au RCD CUI
http://purl.bioontology.org/ontology/SNMI/D4-01204 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D010009 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10059236 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10059236 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10060908 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/13449007 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D010009 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10060908 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10060908 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10059236 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/448227009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D054091 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/448227009 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-00809 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10084422 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10084422 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10084422 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/54036001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C536065 MESH CUI
http://www.orpha.net/ORDO/Orphanet_121853 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C113587 BERO LOOM
http://purl.jp/bio/4/id/200906015059856603 IOBC LOOM
http://purl.obolibrary.org/obo/PR_000007555 PR LOOM
http://purl.obolibrary.org/obo/PR_000007555 GO-PLUS LOOM
http://purl.obolibrary.org/obo/PR_000007555 NIFSTD LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C113587 NCIT LOOM
http://purl.org/skeletome/bonedysplasia#P000070 BDO LOOM