Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

ERYTHERMALGIA, PRIMARY

Synonyms

NEUROPATHY, SMALL FIBER

ID

http://purl.bioontology.org/ontology/OMIM/133020

altLabel

NEUROPATHY, SMALL FIBER

SFNP

ERYTHROMELALGIA, FAMILIAL

ERYTHROMELALGIA, PRIMARY

cui

C3276706

C0014805

Gene Locus

2q24

Gene Symbol

HSAN2D

PN1

GEFSP7

NENA

SFNP

SCN9A

FEB3B

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU027037

http://purl.bioontology.org/ontology/OMIM/MTHU036747

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU018255

http://purl.bioontology.org/ontology/OMIM/MTHU005259

http://purl.bioontology.org/ontology/OMIM/MTHU018257

http://purl.bioontology.org/ontology/OMIM/MTHU030848

http://purl.bioontology.org/ontology/OMIM/MTHU036335

http://purl.bioontology.org/ontology/OMIM/MTHU005271

http://purl.bioontology.org/ontology/OMIM/MTHU030852

http://purl.bioontology.org/ontology/OMIM/MTHU045080

http://purl.bioontology.org/ontology/OMIM/MTHU030850

http://purl.bioontology.org/ontology/OMIM/MTHU000682

http://purl.bioontology.org/ontology/OMIM/MTHU008106

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU018258

http://purl.bioontology.org/ontology/OMIM/MTHU000785

http://purl.bioontology.org/ontology/OMIM/MTHU041455

http://purl.bioontology.org/ontology/OMIM/MTHU018310

http://purl.bioontology.org/ontology/OMIM/MTHU018254

http://purl.bioontology.org/ontology/OMIM/MTHU030849

http://purl.bioontology.org/ontology/OMIM/MTHU030847

http://purl.bioontology.org/ontology/OMIM/MTHU045081

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

133020

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ERYTHERMALGIA, PRIMARY

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D004916 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D000071075 Medical Subject Headings CUI