Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1

Synonyms

ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES

ID

http://purl.bioontology.org/ontology/OMIM/133200

altLabel

ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES

EKVP1

EKV

PSEK

GREITHER DISEASE

ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS

ERYTHROKERATODERMIA VARIABILIS

KERATOSIS PALMOPLANTARIS TRANSGREDIENS ET PROGREDIENS

EKVP

ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA

ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC

cui

C1851480

C0265961

C1851479

Gene Locus

1p35.1

Gene Symbol

EKVP1

DFNA2B

CX31

GJB3

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU038709

http://purl.bioontology.org/ontology/OMIM/MTHU058206

http://purl.bioontology.org/ontology/OMIM/MTHU058208

http://purl.bioontology.org/ontology/OMIM/MTHU058214

http://purl.bioontology.org/ontology/OMIM/MTHU058212

http://purl.bioontology.org/ontology/OMIM/MTHU058218

http://purl.bioontology.org/ontology/OMIM/MTHU058216

http://purl.bioontology.org/ontology/OMIM/MTHU058204

http://purl.bioontology.org/ontology/OMIM/MTHU021129

http://purl.bioontology.org/ontology/OMIM/MTHU058205

http://purl.bioontology.org/ontology/OMIM/MTHU027044

http://purl.bioontology.org/ontology/OMIM/MTHU027042

http://purl.bioontology.org/ontology/OMIM/MTHU058217

http://purl.bioontology.org/ontology/OMIM/MTHU058215

http://purl.bioontology.org/ontology/OMIM/MTHU058203

http://purl.bioontology.org/ontology/OMIM/MTHU058209

http://purl.bioontology.org/ontology/OMIM/MTHU004192

http://purl.bioontology.org/ontology/OMIM/MTHU058207

http://purl.bioontology.org/ontology/OMIM/MTHU058210

http://purl.bioontology.org/ontology/OMIM/MTHU058213

http://purl.bioontology.org/ontology/OMIM/MTHU058219

http://purl.bioontology.org/ontology/OMIM/MTHU058211

http://purl.bioontology.org/ontology/OMIM/MTHU058220

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

602036

notation

133200

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D056266 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D056266 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C536154 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0111195 Human Disease Ontology 123 LOOM