ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT

HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS

http://purl.bioontology.org/ontology/OMIM/144750

HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS

OSTEOSCLEROSIS, AUTOSOMAL DOMINANT

C0432273

11q13.4

PCLD4

OPTA1

BMND1

EVR4

OPPG

LR3

VBCH2

LRP5

LRP7

http://purl.bioontology.org/ontology/OMIM/MTHU017788

http://purl.bioontology.org/ontology/OMIM/MTHU017786

http://purl.bioontology.org/ontology/OMIM/MTHU017796

http://purl.bioontology.org/ontology/OMIM/MTHU017794

http://purl.bioontology.org/ontology/OMIM/MTHU017784

http://purl.bioontology.org/ontology/OMIM/MTHU001511

http://purl.bioontology.org/ontology/OMIM/MTHU017792

http://purl.bioontology.org/ontology/OMIM/MTHU036867

http://purl.bioontology.org/ontology/OMIM/MTHU017791

http://purl.bioontology.org/ontology/OMIM/MTHU004634

http://purl.bioontology.org/ontology/OMIM/MTHU017785

http://purl.bioontology.org/ontology/OMIM/MTHU017779

http://purl.bioontology.org/ontology/OMIM/MTHU017789

http://purl.bioontology.org/ontology/OMIM/MTHU017787

http://purl.bioontology.org/ontology/OMIM/MTHU017795

http://purl.bioontology.org/ontology/OMIM/MTHU017780

http://purl.bioontology.org/ontology/OMIM/MTHU017783

http://purl.bioontology.org/ontology/OMIM/MTHU017781

http://purl.bioontology.org/ontology/OMIM/MTHU000195

http://purl.bioontology.org/ontology/OMIM/MTHU017790

http://purl.bioontology.org/ontology/OMIM/MTHU017793

Phenotype description, molecular basis known.

607636

144750

3

pound

ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT

Onset of disease in late childhood [MISCELLANEOUS]

Caused by mutation in the low density lipoprotein receptor-related protein 5 gene (LRP5, 603506.0015) [MOLECULAR BASIS]

Allelic to type I osteopetrosis (607634), osteoporosis-pseudoglioma (259770), type II van Buchem disease (607636), and high bone mass (601884) [MISCELLANEOUS]

T047