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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

AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2

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

VROAC

TRPV4

OSM9-LIKE TRANSIENT RECEPTOR POTENTIAL CHANNEL 4

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII

METATROPIC DYSPLASIA
cui

C4479260

C0265281

C3150755

C3159322

C1847406

C0751335

C1425291

C0265280

C1853710

C0432227

C1838492

C1868616
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/605427.0035

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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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D009134 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C537356 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C565261 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C535797 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C537172 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138115 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/C564656 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C563218 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C563981 Medical Subject Headings / 医学主题词表 CUI
http://www.orpha.net/ORDO/Orphanet_171081 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/G12.1 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/C562963 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/LP418797-9 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI