KNIEST DYSPLASIA

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

C0265279

12q13.11-q13.2

COL2A1

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/MTHU036928

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

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

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

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/MTHU036427

Phenotype description, molecular basis known.

156550

3

pound

KNIEST DYSPLASIA

Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0012) [MOLECULAR BASIS]

Abnormal gait [MISCELLANEOUS]

Delayed motor milestones [MISCELLANEOUS]

Parental somatic mosaicism in 2 cases produced mild phenotype in the patients [MISCELLANEOUS]

T047