Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

IMMUNODEFICIENCY 10
Synonyms

STIM1 DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/612783
altLabel

STIM1 DEFICIENCY

IMD10

IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2
cui

C2748557
Gene Locus

11p15.5
Gene Symbol

STIM1

TAM1

IMD10

STRMK
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU041708

http://purl.bioontology.org/ontology/OMIM/MTHU024886

http://purl.bioontology.org/ontology/OMIM/MTHU039250

http://purl.bioontology.org/ontology/OMIM/MTHU024884

http://purl.bioontology.org/ontology/OMIM/MTHU057359

http://purl.bioontology.org/ontology/OMIM/MTHU024888

http://purl.bioontology.org/ontology/OMIM/MTHU024894

http://purl.bioontology.org/ontology/OMIM/MTHU001001

http://purl.bioontology.org/ontology/OMIM/MTHU024893

http://purl.bioontology.org/ontology/OMIM/MTHU057360

http://purl.bioontology.org/ontology/OMIM/MTHU002630

http://purl.bioontology.org/ontology/OMIM/MTHU000759

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU043140

http://purl.bioontology.org/ontology/OMIM/MTHU039249

http://purl.bioontology.org/ontology/OMIM/MTHU007822

http://purl.bioontology.org/ontology/OMIM/MTHU001486

http://purl.bioontology.org/ontology/OMIM/MTHU036385

http://purl.bioontology.org/ontology/OMIM/MTHU005092

http://purl.bioontology.org/ontology/OMIM/MTHU024889

http://purl.bioontology.org/ontology/OMIM/MTHU024887

http://purl.bioontology.org/ontology/OMIM/MTHU057358

http://purl.bioontology.org/ontology/OMIM/MTHU024885

http://purl.bioontology.org/ontology/OMIM/MTHU011138
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

612783
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

IMMUNODEFICIENCY 10
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C557827 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0111970 Human Disease Ontology 123 LOOM