Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

CZECH DYSPLASIA

Synonyms

PSEUDORHEUMATOID DYSPLASIA, PROGRESSIVE, WITH HYPOPLASTIC TOES

ID

http://purl.bioontology.org/ontology/OMIM/609162

altLabel

PSEUDORHEUMATOID DYSPLASIA, PROGRESSIVE, WITH HYPOPLASTIC TOES

SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS

CZECH DYSPLASIA, METATARSAL TYPE

cui

C1836683

Gene Locus

12q13.11-q13.2

Gene Symbol

COL2A1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001101

http://purl.bioontology.org/ontology/OMIM/MTHU001105

http://purl.bioontology.org/ontology/OMIM/MTHU001200

http://purl.bioontology.org/ontology/OMIM/MTHU001198

http://purl.bioontology.org/ontology/OMIM/MTHU001196

http://purl.bioontology.org/ontology/OMIM/MTHU001193

http://purl.bioontology.org/ontology/OMIM/MTHU022089

http://purl.bioontology.org/ontology/OMIM/MTHU022087

http://purl.bioontology.org/ontology/OMIM/MTHU022091

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

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU000885

http://purl.bioontology.org/ontology/OMIM/MTHU003667

http://purl.bioontology.org/ontology/OMIM/MTHU001195

http://purl.bioontology.org/ontology/OMIM/MTHU022086

http://purl.bioontology.org/ontology/OMIM/MTHU046176

http://purl.bioontology.org/ontology/OMIM/MTHU000720

http://purl.bioontology.org/ontology/OMIM/MTHU001197

http://purl.bioontology.org/ontology/OMIM/MTHU001194

http://purl.bioontology.org/ontology/OMIM/MTHU022088

http://purl.bioontology.org/ontology/OMIM/MTHU001192

http://purl.bioontology.org/ontology/OMIM/MTHU022090

http://purl.bioontology.org/ontology/OMIM/MTHU011701

http://purl.bioontology.org/ontology/OMIM/MTHU009968

http://purl.bioontology.org/ontology/OMIM/MTHU022092

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

609162

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CZECH DYSPLASIA

tui

T019

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http://purl.bioontology.org/ontology/MESH/C535766 Medical Subject Headings CUI