Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

KNIEST DYSPLASIA
ID

http://purl.bioontology.org/ontology/OMIM/156550
cui

C0265279
Gene Locus

12q13.11-q13.2
Gene Symbol

COL2A1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU005669

http://purl.bioontology.org/ontology/OMIM/MTHU017179

http://purl.bioontology.org/ontology/OMIM/MTHU017177

http://purl.bioontology.org/ontology/OMIM/MTHU012428

http://purl.bioontology.org/ontology/OMIM/MTHU003435

http://purl.bioontology.org/ontology/OMIM/MTHU017183

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

http://purl.bioontology.org/ontology/OMIM/MTHU002029

http://purl.bioontology.org/ontology/OMIM/MTHU017187

http://purl.bioontology.org/ontology/OMIM/MTHU017185

http://purl.bioontology.org/ontology/OMIM/MTHU017175

http://purl.bioontology.org/ontology/OMIM/MTHU006862

http://purl.bioontology.org/ontology/OMIM/MTHU011590

http://purl.bioontology.org/ontology/OMIM/MTHU012591

http://purl.bioontology.org/ontology/OMIM/MTHU001649

http://purl.bioontology.org/ontology/OMIM/MTHU004635

http://purl.bioontology.org/ontology/OMIM/MTHU017180

http://purl.bioontology.org/ontology/OMIM/MTHU000585

http://purl.bioontology.org/ontology/OMIM/MTHU006299

http://purl.bioontology.org/ontology/OMIM/MTHU036928

http://purl.bioontology.org/ontology/OMIM/MTHU000607

http://purl.bioontology.org/ontology/OMIM/MTHU036345

http://purl.bioontology.org/ontology/OMIM/MTHU017190

http://purl.bioontology.org/ontology/OMIM/MTHU000038

http://purl.bioontology.org/ontology/OMIM/MTHU027229

http://purl.bioontology.org/ontology/OMIM/MTHU002014

http://purl.bioontology.org/ontology/OMIM/MTHU036440

http://purl.bioontology.org/ontology/OMIM/MTHU017186

http://purl.bioontology.org/ontology/OMIM/MTHU017174

http://purl.bioontology.org/ontology/OMIM/MTHU017172

http://purl.bioontology.org/ontology/OMIM/MTHU017178

http://purl.bioontology.org/ontology/OMIM/MTHU017176

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU017188

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU017181

http://purl.bioontology.org/ontology/OMIM/MTHU017184

http://purl.bioontology.org/ontology/OMIM/MTHU017182

http://purl.bioontology.org/ontology/OMIM/MTHU003954

http://purl.bioontology.org/ontology/OMIM/MTHU036427
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

156550
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

KNIEST DYSPLASIA
tui

T019
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0080045 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125594 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/C537207 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537207 Medical Subject Headings LOOM