Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4

Synonyms

DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL

ID

http://purl.bioontology.org/ontology/OMIM/605427

altLabel

DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL

PARASTREMMATIC DWARFISM

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1

TRANSIENT RECEPTOR POTENTIAL, DROSOPHILA, HOMOLOG OF, 12

OTRPC4

BRACHYOLMIA TYPE 3

SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY

VANILLOID RECEPTOR-RELATED OSMOTICALLY ACTIVATED CHANNEL

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC

TRANSIENT RECEPTOR POTENTIAL CHANNEL 12

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

TRP12

AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (1 family)

VROAC

TRPV4

OSM9-LIKE TRANSIENT RECEPTOR POTENTIAL CHANNEL 4

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII

METATROPIC DYSPLASIA

cui

C0265281

C3150755

C3159322

C1847406

C0751335

C1425291

C0265280

C1853710

C0432227

C1838492

C1868616

C4479687

Gene Locus

12q24.1

Gene Symbol

SSQTL1

SMAL

BCYM3

HMSN2C

TRPV4

SPSMA

VROAC

CMT2C

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/605427.0027

http://purl.bioontology.org/ontology/OMIM/605427.0007

http://purl.bioontology.org/ontology/OMIM/605427.0034

http://purl.bioontology.org/ontology/OMIM/605427.0010

http://purl.bioontology.org/ontology/OMIM/605427.0030

http://purl.bioontology.org/ontology/OMIM/605427.0021

http://purl.bioontology.org/ontology/OMIM/605427.0028

http://purl.bioontology.org/ontology/OMIM/605427.0008

http://purl.bioontology.org/ontology/OMIM/605427.0022

http://purl.bioontology.org/ontology/OMIM/605427.0002

http://purl.bioontology.org/ontology/OMIM/605427.0004

http://purl.bioontology.org/ontology/OMIM/605427.0023

http://purl.bioontology.org/ontology/OMIM/605427.0003

http://purl.bioontology.org/ontology/OMIM/605427.0016

http://purl.bioontology.org/ontology/OMIM/605427.0015

http://purl.bioontology.org/ontology/OMIM/605427.0017

http://purl.bioontology.org/ontology/OMIM/605427.0029

http://purl.bioontology.org/ontology/OMIM/605427.0009

http://purl.bioontology.org/ontology/OMIM/605427.0031

http://purl.bioontology.org/ontology/OMIM/605427.0020

http://purl.bioontology.org/ontology/OMIM/605427.0001

http://purl.bioontology.org/ontology/OMIM/605427.0012

http://purl.bioontology.org/ontology/OMIM/605427.0011

http://purl.bioontology.org/ontology/OMIM/605427.0024

http://purl.bioontology.org/ontology/OMIM/605427.0032

http://purl.bioontology.org/ontology/OMIM/605427.0014

http://purl.bioontology.org/ontology/OMIM/605427.0033

http://purl.bioontology.org/ontology/OMIM/605427.0025

http://purl.bioontology.org/ontology/OMIM/605427.0005

http://purl.bioontology.org/ontology/OMIM/605427.0006

http://purl.bioontology.org/ontology/OMIM/605427.0018

http://purl.bioontology.org/ontology/OMIM/605427.0013

http://purl.bioontology.org/ontology/OMIM/605427.0019

http://purl.bioontology.org/ontology/OMIM/605427.0026

MIMTYPEMEANING

Gene with known sequence

notation

605427

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4

tui

T028

T019

T033

T047

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