Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

STORMORKEN SYNDROME

Synonyms

THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS

ID

http://purl.bioontology.org/ontology/OMIM/185070

altLabel

THROMBOCYTOPATHY, ASPLENIA, AND MIOSIS

YPS

YORK PLATELET SYNDROME

STRMK

cui

C1861451

Gene Locus

11p15.5

Gene Symbol

STIM1

TAM1

IMD10

STRMK

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU002677

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

http://purl.bioontology.org/ontology/OMIM/MTHU026714

http://purl.bioontology.org/ontology/OMIM/MTHU004501

http://purl.bioontology.org/ontology/OMIM/MTHU045287

http://purl.bioontology.org/ontology/OMIM/MTHU045285

http://purl.bioontology.org/ontology/OMIM/MTHU045283

http://purl.bioontology.org/ontology/OMIM/MTHU045289

http://purl.bioontology.org/ontology/OMIM/MTHU045281

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU036809

http://purl.bioontology.org/ontology/OMIM/MTHU053541

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

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU000702

http://purl.bioontology.org/ontology/OMIM/MTHU000422

http://purl.bioontology.org/ontology/OMIM/MTHU003653

http://purl.bioontology.org/ontology/OMIM/MTHU000580

http://purl.bioontology.org/ontology/OMIM/MTHU036348

http://purl.bioontology.org/ontology/OMIM/MTHU045288

http://purl.bioontology.org/ontology/OMIM/MTHU045282

http://purl.bioontology.org/ontology/OMIM/MTHU000440

http://purl.bioontology.org/ontology/OMIM/MTHU045286

http://purl.bioontology.org/ontology/OMIM/MTHU011729

http://purl.bioontology.org/ontology/OMIM/MTHU045284

http://purl.bioontology.org/ontology/OMIM/MTHU036435

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

185070

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

STORMORKEN SYNDROME

tui

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0060354 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C566108 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566108 Medical Subject Headings LOOM