Disease: Van Buchem Disease

Name Van Buchem Disease

Synonyms ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL RECESSIVE , HYPEROSTOSIS CORTICALIS GENERALISATA , HYPERPHOSPHATASEMIA TARDA

Classification bone, developmental, genetic

Phenotypes Autosomal recessive inheritance; Cranial hyperostosis; Cranial nerve paralysis; Elevated alkaline phosphatase; Headache; Hearing impairment; Increased bone mineral density; Optic atrophy from cranial nerve compression; Thickened cortex of long bones

Associated Genes SOST (Withdrawn symbols: DAND6, VBCH )

Mouse Orthologs Sost (Withdrawn symbols: 5430411E23Rik )

Source OMIM:239100 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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