OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7

OSTEOPETROSIS, OSTEOCLAST-POOR, WITH HYPOGAMMAGLOBULINEMIA

http://purl.bioontology.org/ontology/OMIM/612301

OSTEOPETROSIS, OSTEOCLAST-POOR, WITH HYPOGAMMAGLOBULINEMIA

OPTB7

C2676766

18q22.1

PDB2

ODFR

OPTB7

FEO

TNFRSF11A

RANK

http://purl.bioontology.org/ontology/OMIM/MTHU061815

http://purl.bioontology.org/ontology/OMIM/MTHU061809

http://purl.bioontology.org/ontology/OMIM/MTHU008800

http://purl.bioontology.org/ontology/OMIM/MTHU061813

http://purl.bioontology.org/ontology/OMIM/MTHU061807

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU061825

http://purl.bioontology.org/ontology/OMIM/MTHU061823

http://purl.bioontology.org/ontology/OMIM/MTHU061819

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU061817

http://purl.bioontology.org/ontology/OMIM/MTHU001684

http://purl.bioontology.org/ontology/OMIM/MTHU061811

http://purl.bioontology.org/ontology/OMIM/MTHU009238

http://purl.bioontology.org/ontology/OMIM/MTHU068904

http://purl.bioontology.org/ontology/OMIM/MTHU007930

http://purl.bioontology.org/ontology/OMIM/MTHU000196

http://purl.bioontology.org/ontology/OMIM/MTHU061806

http://purl.bioontology.org/ontology/OMIM/MTHU061804

http://purl.bioontology.org/ontology/OMIM/MTHU061808

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU026118

http://purl.bioontology.org/ontology/OMIM/MTHU020268

http://purl.bioontology.org/ontology/OMIM/MTHU061824

http://purl.bioontology.org/ontology/OMIM/MTHU061818

http://purl.bioontology.org/ontology/OMIM/MTHU061816

http://purl.bioontology.org/ontology/OMIM/MTHU000068

http://purl.bioontology.org/ontology/OMIM/MTHU061814

http://purl.bioontology.org/ontology/OMIM/MTHU036379

http://purl.bioontology.org/ontology/OMIM/MTHU033403

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU061822

http://purl.bioontology.org/ontology/OMIM/MTHU061820

http://purl.bioontology.org/ontology/OMIM/MTHU068905

http://purl.bioontology.org/ontology/OMIM/MTHU036648

http://purl.bioontology.org/ontology/OMIM/MTHU008639

http://purl.bioontology.org/ontology/OMIM/MTHU032019

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU005786

http://purl.bioontology.org/ontology/OMIM/MTHU019968

http://purl.bioontology.org/ontology/OMIM/MTHU004435

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

http://purl.bioontology.org/ontology/OMIM/MTHU061805

Phenotype description, molecular basis known.

612301

3

pound

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7

Caused by mutation in the tumor necrosis factor receptor superfamily, member 11A gene (TNFRSF11A, 603499.0003) [MOLECULAR BASIS]

Hematopoietic stem cell transplantation can result in marked amelioration [MISCELLANEOUS]

Death in first years of life (in some patients) [MISCELLANEOUS]

T047