DYGGVE-MELCHIOR-CLAUSEN DISEASE

DMC

http://purl.bioontology.org/ontology/OMIM/223800

DMC

C0265286

18q12-q21.1

DYM

SMC

DMC

FLJ90130

http://purl.bioontology.org/ontology/OMIM/MTHU003433

http://purl.bioontology.org/ontology/OMIM/MTHU013383

http://purl.bioontology.org/ontology/OMIM/MTHU005796

http://purl.bioontology.org/ontology/OMIM/MTHU013381

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

http://purl.bioontology.org/ontology/OMIM/MTHU011548

http://purl.bioontology.org/ontology/OMIM/MTHU003437

http://purl.bioontology.org/ontology/OMIM/MTHU003441

http://purl.bioontology.org/ontology/OMIM/MTHU011540

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

http://purl.bioontology.org/ontology/OMIM/MTHU000589

http://purl.bioontology.org/ontology/OMIM/MTHU000587

http://purl.bioontology.org/ontology/OMIM/MTHU000601

http://purl.bioontology.org/ontology/OMIM/MTHU013378

http://purl.bioontology.org/ontology/OMIM/MTHU013376

http://purl.bioontology.org/ontology/OMIM/MTHU013370

http://purl.bioontology.org/ontology/OMIM/MTHU009268

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

http://purl.bioontology.org/ontology/OMIM/MTHU000260

http://purl.bioontology.org/ontology/OMIM/MTHU013382

http://purl.bioontology.org/ontology/OMIM/MTHU013380

http://purl.bioontology.org/ontology/OMIM/MTHU013386

http://purl.bioontology.org/ontology/OMIM/MTHU013374

http://purl.bioontology.org/ontology/OMIM/MTHU013372

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

http://purl.bioontology.org/ontology/OMIM/MTHU013384

http://purl.bioontology.org/ontology/OMIM/MTHU000290

http://purl.bioontology.org/ontology/OMIM/MTHU000566

http://purl.bioontology.org/ontology/OMIM/MTHU003438

http://purl.bioontology.org/ontology/OMIM/MTHU011330

http://purl.bioontology.org/ontology/OMIM/MTHU000258

http://purl.bioontology.org/ontology/OMIM/MTHU002335

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU001504

http://purl.bioontology.org/ontology/OMIM/MTHU000606

http://purl.bioontology.org/ontology/OMIM/MTHU013385

http://purl.bioontology.org/ontology/OMIM/MTHU013375

http://purl.bioontology.org/ontology/OMIM/MTHU013373

http://purl.bioontology.org/ontology/OMIM/MTHU013379

http://purl.bioontology.org/ontology/OMIM/MTHU001798

http://purl.bioontology.org/ontology/OMIM/MTHU013377

http://purl.bioontology.org/ontology/OMIM/MTHU013371

http://purl.bioontology.org/ontology/OMIM/MTHU036368

http://purl.bioontology.org/ontology/OMIM/MTHU006836

Phenotype description, molecular basis known.

223800

3

pound

DYGGVE-MELCHIOR-CLAUSEN DISEASE

Caused by mutations in the FLJ90130 gene (FLJ90130, 607461.0001) [MOLECULAR BASIS]

Waddling gait [MISCELLANEOUS]

Allelic with Smith-McCort dysplasia (607326) [MISCELLANEOUS]

T047