ACHONDROGENESIS, TYPE II

ACHONDROGENESIS, TYPE IB, FORMERLY

http://purl.bioontology.org/ontology/OMIM/200610

ACHONDROGENESIS, TYPE IB, FORMERLY

ACHONDROGENESIS, LANGER-SALDINO TYPE

ACG2

CHONDROGENESIS IMPERFECTA

HYPOCHONDROGENESIS

C0220685

C0542428

12q13.11-q13.2

COL2A1

http://purl.bioontology.org/ontology/OMIM/MTHU005373

http://purl.bioontology.org/ontology/OMIM/MTHU006913

http://purl.bioontology.org/ontology/OMIM/MTHU010717

http://purl.bioontology.org/ontology/OMIM/MTHU014839

http://purl.bioontology.org/ontology/OMIM/MTHU014837

http://purl.bioontology.org/ontology/OMIM/MTHU014841

http://purl.bioontology.org/ontology/OMIM/MTHU014835

http://purl.bioontology.org/ontology/OMIM/MTHU014833

http://purl.bioontology.org/ontology/OMIM/MTHU027608

http://purl.bioontology.org/ontology/OMIM/MTHU006837

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU027609

http://purl.bioontology.org/ontology/OMIM/MTHU014838

http://purl.bioontology.org/ontology/OMIM/MTHU005319

http://purl.bioontology.org/ontology/OMIM/MTHU027607

http://purl.bioontology.org/ontology/OMIM/MTHU014842

http://purl.bioontology.org/ontology/OMIM/MTHU014836

http://purl.bioontology.org/ontology/OMIM/MTHU014844

http://purl.bioontology.org/ontology/OMIM/MTHU000596

http://purl.bioontology.org/ontology/OMIM/MTHU014340

http://purl.bioontology.org/ontology/OMIM/MTHU014840

http://purl.bioontology.org/ontology/OMIM/MTHU036439

Phenotype description, molecular basis known.

200720

200710

200610

3

pound

ACHONDROGENESIS, TYPE II

T019