Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

GOLDBERG-SHPRINTZEN SYNDROME
Synonyms

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/609460
altLabel

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

GOSHS
cui

C1836123
Gene Locus

10q22.1
Gene Symbol

KIAA1279
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000691

http://purl.bioontology.org/ontology/OMIM/MTHU009481

http://purl.bioontology.org/ontology/OMIM/MTHU002015

http://purl.bioontology.org/ontology/OMIM/MTHU004601

http://purl.bioontology.org/ontology/OMIM/MTHU001753

http://purl.bioontology.org/ontology/OMIM/MTHU022067

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU034782

http://purl.bioontology.org/ontology/OMIM/MTHU029912

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU024825

http://purl.bioontology.org/ontology/OMIM/MTHU046189

http://purl.bioontology.org/ontology/OMIM/MTHU002108

http://purl.bioontology.org/ontology/OMIM/MTHU004041

http://purl.bioontology.org/ontology/OMIM/MTHU000324

http://purl.bioontology.org/ontology/OMIM/MTHU000253

http://purl.bioontology.org/ontology/OMIM/MTHU002047

http://purl.bioontology.org/ontology/OMIM/MTHU000267

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU012111

http://purl.bioontology.org/ontology/OMIM/MTHU038973

http://purl.bioontology.org/ontology/OMIM/MTHU022066

http://purl.bioontology.org/ontology/OMIM/MTHU005105

http://purl.bioontology.org/ontology/OMIM/MTHU036699

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU000564

http://purl.bioontology.org/ontology/OMIM/MTHU036336

http://purl.bioontology.org/ontology/OMIM/MTHU002113

http://purl.bioontology.org/ontology/OMIM/MTHU003098

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU036356

http://purl.bioontology.org/ontology/OMIM/MTHU046190

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU001605

http://purl.bioontology.org/ontology/OMIM/MTHU003768
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

609460
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

GOLDBERG-SHPRINTZEN SYNDROME
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0060481 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C537279 Medical Subject Headings CUI