CZECH DYSPLASIA

PSEUDORHEUMATOID DYSPLASIA, PROGRESSIVE, WITH HYPOPLASTIC TOES

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

PSEUDORHEUMATOID DYSPLASIA, PROGRESSIVE, WITH HYPOPLASTIC TOES

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/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/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

Phenotype description, molecular basis known.

609162

3

pound

CZECH DYSPLASIA

Hip replacement in early adulthood [MISCELLANEOUS]

Onset of joint pain in childhood [MISCELLANEOUS]

Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0018) [MOLECULAR BASIS]

Waddling gait [MISCELLANEOUS]

T019