Disease: Hypocalcemic Vitamin D-Resistant Rickets

Name Hypocalcemic Vitamin D-Resistant Rickets

Synonyms -

Classification bone, developmental, endocrine, genetic

Phenotypes Abnormal adipose tissue morphology; Abnormal form of the vertebral bodies; Abnormality of the hip bone; Abnormality of the metaphysis; Abnormality of the skin; Abnormality of the thorax; Alopecia; Bone cyst; Bone pain; Dolichocephaly; Frontal bossing; Gait disturbance; Genu valgum; Genu varum; Hyperparathyroidism; Hypocalcemia; Hypophosphatemia; Joint dislocation; Nephrolithiasis; Osteolysis; Osteomalacia; Premature loss of primary teeth; Recurrent fractures; Rough bone trabeculation; Scoliosis; Short stature

Associated Genes VDR (Withdrawn symbols: NR1I1, PPP1R163 )

Mouse Orthologs Vdr

Source ORPHA:93160 (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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