CZECH DYSPLASIA
PSEUDORHEUMATOID DYSPLASIA, PROGRESSIVE, WITH HYPOPLASTIC TOES
http://purl.bioontology.org/ontology/OMIM/609162
SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
CZECH DYSPLASIA, METATARSAL TYPE
C1836683
12q13.11-q13.2
COL2A1
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
Phenotype description, molecular basis known.
609162
3
pound
T019