SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

SMDK

http://purl.bioontology.org/ontology/OMIM/184252

SMDK

SMD, KOZLOWSKI TYPE

C0265280

12q24.1

SSQTL1

SMAL

BCYM3

HMSN2C

TRPV4

SPSMA

VROAC

CMT2C

http://purl.bioontology.org/ontology/OMIM/MTHU037159

http://purl.bioontology.org/ontology/OMIM/MTHU015519

http://purl.bioontology.org/ontology/OMIM/MTHU003644

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

http://purl.bioontology.org/ontology/OMIM/MTHU015525

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU015517

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

http://purl.bioontology.org/ontology/OMIM/MTHU015527

http://purl.bioontology.org/ontology/OMIM/MTHU037160

http://purl.bioontology.org/ontology/OMIM/MTHU015522

http://purl.bioontology.org/ontology/OMIM/MTHU015520

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU031132

http://purl.bioontology.org/ontology/OMIM/MTHU031482

http://purl.bioontology.org/ontology/OMIM/MTHU011166

http://purl.bioontology.org/ontology/OMIM/MTHU015518

http://purl.bioontology.org/ontology/OMIM/MTHU015516

http://purl.bioontology.org/ontology/OMIM/MTHU011405

http://purl.bioontology.org/ontology/OMIM/MTHU003440

http://purl.bioontology.org/ontology/OMIM/MTHU010294

http://purl.bioontology.org/ontology/OMIM/MTHU015523

http://purl.bioontology.org/ontology/OMIM/MTHU015528

http://purl.bioontology.org/ontology/OMIM/MTHU001506

http://purl.bioontology.org/ontology/OMIM/MTHU015526

http://purl.bioontology.org/ontology/OMIM/MTHU015524

http://purl.bioontology.org/ontology/OMIM/MTHU015521

http://purl.bioontology.org/ontology/OMIM/MTHU011289

http://purl.bioontology.org/ontology/OMIM/MTHU031483

Phenotype description, molecular basis known.

184252

3

pound

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

T019