Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SITOSTEROLEMIA
Synonyms

MACROTHROMBOCYTOPENIA/STOMATOCYTOSIS, MEDITERRANEAN
ID

http://purl.bioontology.org/ontology/OMIM/210250
altLabel

MACROTHROMBOCYTOPENIA/STOMATOCYTOSIS, MEDITERRANEAN

PHYTOSTEROLEMIA

STSL
cui

C2749759

C0342907
Gene Locus

2p21
Gene Symbol

ABCG8

GBD4
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU037270

http://purl.bioontology.org/ontology/OMIM/MTHU027720

http://purl.bioontology.org/ontology/OMIM/MTHU001688

http://purl.bioontology.org/ontology/OMIM/MTHU036909

http://purl.bioontology.org/ontology/OMIM/MTHU026262

http://purl.bioontology.org/ontology/OMIM/MTHU014199

http://purl.bioontology.org/ontology/OMIM/MTHU014197

http://purl.bioontology.org/ontology/OMIM/MTHU014203

http://purl.bioontology.org/ontology/OMIM/MTHU027719

http://purl.bioontology.org/ontology/OMIM/MTHU014207

http://purl.bioontology.org/ontology/OMIM/MTHU014201

http://purl.bioontology.org/ontology/OMIM/MTHU014205

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU009073

http://purl.bioontology.org/ontology/OMIM/MTHU002227

http://purl.bioontology.org/ontology/OMIM/MTHU014196

http://purl.bioontology.org/ontology/OMIM/MTHU014206

http://purl.bioontology.org/ontology/OMIM/MTHU014200

http://purl.bioontology.org/ontology/OMIM/MTHU014204

http://purl.bioontology.org/ontology/OMIM/MTHU036407

http://purl.bioontology.org/ontology/OMIM/MTHU026263

http://purl.bioontology.org/ontology/OMIM/MTHU014198

http://purl.bioontology.org/ontology/OMIM/MTHU014208

http://purl.bioontology.org/ontology/OMIM/MTHU014202
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

210250
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SITOSTEROLEMIA
tui

T019

T047
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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125694 National Cancer Institute Thesaurus LOOM
http://purl.obolibrary.org/obo/DOID_0090019 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C537345 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537345 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537345 Medical Subject Headings LOOM