EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1

EDS VI

http://purl.bioontology.org/ontology/OMIM/225400

EDS VI

EDS6A, FORMERLY

EHLERS-DANLOS SYNDROME, TYPE VI

NEVO SYNDROME

EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE

EDSKSCL1

EHLERS-DANLOS SYNDROME, TYPE VIA, FORMERLY

EDS6

C0268342

C2936777

1p36.3-p36.2

PLOD1

LH1

LLH

EDSKCL1

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU007720

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

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU004831

http://purl.bioontology.org/ontology/OMIM/MTHU013214

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU013202

http://purl.bioontology.org/ontology/OMIM/MTHU000449

http://purl.bioontology.org/ontology/OMIM/MTHU013208

http://purl.bioontology.org/ontology/OMIM/MTHU001370

http://purl.bioontology.org/ontology/OMIM/MTHU001061

http://purl.bioontology.org/ontology/OMIM/MTHU007724

http://purl.bioontology.org/ontology/OMIM/MTHU036699

http://purl.bioontology.org/ontology/OMIM/MTHU001148

http://purl.bioontology.org/ontology/OMIM/MTHU001151

http://purl.bioontology.org/ontology/OMIM/MTHU013204

http://purl.bioontology.org/ontology/OMIM/MTHU013207

http://purl.bioontology.org/ontology/OMIM/MTHU001153

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU013205

http://purl.bioontology.org/ontology/OMIM/MTHU013209

http://purl.bioontology.org/ontology/OMIM/MTHU013203

http://purl.bioontology.org/ontology/OMIM/MTHU013210

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU037411

http://purl.bioontology.org/ontology/OMIM/MTHU036426

http://purl.bioontology.org/ontology/OMIM/MTHU037097

http://purl.bioontology.org/ontology/OMIM/MTHU013206

http://purl.bioontology.org/ontology/OMIM/MTHU013213

http://purl.bioontology.org/ontology/OMIM/MTHU000604

http://purl.bioontology.org/ontology/OMIM/MTHU036449

http://purl.bioontology.org/ontology/OMIM/MTHU013211

http://purl.bioontology.org/ontology/OMIM/MTHU012423

http://purl.bioontology.org/ontology/OMIM/MTHU007296

http://purl.bioontology.org/ontology/OMIM/MTHU037032

http://purl.bioontology.org/ontology/OMIM/MTHU013212

http://purl.bioontology.org/ontology/OMIM/MTHU012986

http://purl.bioontology.org/ontology/OMIM/MTHU000094

Phenotype description, molecular basis known.

601451

225400

3

pound

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1

Caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase gene (PLOD, 153454.0001) [MOLECULAR BASIS]

T047