GIANT CELL CHONDRODYSPLASIA

AOI

SPONDYLOHUMEROFEMORAL HYPOPLASIA

AO1

http://purl.bioontology.org/ontology/OMIM/108720

GIANT CELL CHONDRODYSPLASIA

AOI

SPONDYLOHUMEROFEMORAL HYPOPLASIA

AO1

C0265283

3p14.3

AOI

SCT

LRS1

FLNB

http://purl.bioontology.org/ontology/OMIM/MTHU013044

http://purl.bioontology.org/ontology/OMIM/MTHU007225

http://purl.bioontology.org/ontology/OMIM/MTHU019389

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

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU019383

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

http://purl.bioontology.org/ontology/OMIM/MTHU015498

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU019382

http://purl.bioontology.org/ontology/OMIM/MTHU019385

http://purl.bioontology.org/ontology/OMIM/MTHU013634

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU019391

http://purl.bioontology.org/ontology/OMIM/MTHU019387

http://purl.bioontology.org/ontology/OMIM/MTHU013269

http://purl.bioontology.org/ontology/OMIM/MTHU019390

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU000041

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU019384

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

http://purl.bioontology.org/ontology/OMIM/MTHU004804

http://purl.bioontology.org/ontology/OMIM/MTHU019381

http://purl.bioontology.org/ontology/OMIM/MTHU019393

http://purl.bioontology.org/ontology/OMIM/MTHU019392

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

http://purl.bioontology.org/ontology/OMIM/MTHU003479

http://purl.bioontology.org/ontology/OMIM/MTHU019394

http://purl.bioontology.org/ontology/OMIM/MTHU019386

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

http://purl.bioontology.org/ontology/OMIM/MTHU002500

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU019395

http://purl.bioontology.org/ontology/OMIM/MTHU002786

http://purl.bioontology.org/ontology/OMIM/MTHU010694

http://purl.bioontology.org/ontology/OMIM/MTHU019388

Phenotype description, molecular basis known.

108720

3

pound

ATELOSTEOGENESIS, TYPE I

All cases have been stillborn or immediate neonatal death [MISCELLANEOUS]

De novo mutation [MISCELLANEOUS]

Caused by mutation in the filamin B gene (FLNB, 603381.0006) [MOLECULAR BASIS]

T019