Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
Synonyms

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

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

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

OSTEOSCLEROSIS, AUTOSOMAL DOMINANT
cui

C0432273
Gene Locus

11q13.4
Gene Symbol

OPTA1

BMND1

EVR4

OPPG

LR3

VBCH2

LRP5

LRP7
Has manifestation

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU027136

http://purl.bioontology.org/ontology/OMIM/MTHU017798

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/MTHU027137

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
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

144750
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
tui

T047
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http://purl.bioontology.org/ontology/MESH/C536748 Medical Subject Headings CUI