| Monarch Ortholog Phenotypes
|
Human (38 sources):
Abnormal abdomen morphology,
Bone pain,
Bowing of the legs,
Bulging epiphyses,
Bulging of the costochondral junction,
Calcium nephrolithiasis,
Deformed rib cage,
Delayed epiphyseal ossification,
Difficulty standing,
Difficulty walking,
Elevated circulating alkaline phosphatase concentration,
Enlargement of the ankles,
Enlargement of the costochondral junction,
Enlargement of the wrists,
Failure to thrive,
Femoral bowing,
Fibular bowing,
Flat occiput,
Frontal bossing,
Generalized hypotonia,
Growth delay,
Hypercalciuria,
Hypophosphatemia,
Hypophosphatemic rickets,
Hypotonia,
Metaphyseal irregularity,
Muscle weakness,
Osteomalacia,
Recurrent fractures,
Renal phosphate wasting,
Renal tubular dysfunction,
Rickets,
Short stature,
Sparse bone trabeculae,
Thin bony cortex,
Tibial bowing,
Widely patent fontanelles and sutures,
obsolete Increased serum 1,25-dihydroxyvitamin D3
[+]
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Mouse (4 sources):
abnormal intestinal absorption,
abnormal vitamin D level,
homeostasis/metabolism phenotype,
skeleton phenotype
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View all ortholog results at Monarch
|
Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.