ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS
http://purl.bioontology.org/ontology/OMIM/144750
OSTEOSCLEROSIS, AUTOSOMAL DOMINANT
C0432273
11q13.4
OPPG
PCLD4
LR3
LRP7
BMND1
OPTA1
EVR4
LRP5
http://purl.bioontology.org/ontology/OMIM/MTHU017785
http://purl.bioontology.org/ontology/OMIM/MTHU017780
http://purl.bioontology.org/ontology/OMIM/MTHU017787
http://purl.bioontology.org/ontology/OMIM/MTHU017791
http://purl.bioontology.org/ontology/OMIM/MTHU017786
http://purl.bioontology.org/ontology/OMIM/MTHU001511
http://purl.bioontology.org/ontology/OMIM/MTHU017795
http://purl.bioontology.org/ontology/OMIM/MTHU017796
http://purl.bioontology.org/ontology/OMIM/MTHU017788
http://purl.bioontology.org/ontology/OMIM/MTHU017790
http://purl.bioontology.org/ontology/OMIM/MTHU017779
http://purl.bioontology.org/ontology/OMIM/MTHU000195
http://purl.bioontology.org/ontology/OMIM/MTHU004634
http://purl.bioontology.org/ontology/OMIM/MTHU017783
http://purl.bioontology.org/ontology/OMIM/MTHU017781
http://purl.bioontology.org/ontology/OMIM/MTHU036867
http://purl.bioontology.org/ontology/OMIM/MTHU017792
http://purl.bioontology.org/ontology/OMIM/MTHU017784
http://purl.bioontology.org/ontology/OMIM/MTHU017794
http://purl.bioontology.org/ontology/OMIM/MTHU017793
http://purl.bioontology.org/ontology/OMIM/MTHU017789
Phenotype description, molecular basis known.
607636
144750
3
pound
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]
T047