| Monarch Ortholog Phenotypes
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Human (50 sources):
Bone pain,
Bowing of the legs,
Bulging epiphyses,
Bulging of the costochondral junction,
Deformed rib cage,
Delayed epiphyseal ossification,
Delayed eruption of teeth,
Difficulty standing,
Difficulty walking,
Elevated alkaline phosphatase of bone origin,
Elevated circulating alkaline phosphatase concentration,
Elevated circulating parathyroid hormone level,
Enamel hypoplasia,
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 aminoaciduria,
Generalized hypotonia,
Genu varum,
Growth delay,
Hypocalcemia,
Hypocalcemic seizures,
Hypophosphatemia,
Hypotonia,
Increased susceptibility to fractures,
Irregular, rachitic-like metaphyses,
Irritability,
Low serum calcitriol,
Metaphyseal irregularity,
Motor delay,
Muscle weakness,
Osteomalacia,
Protuberant abdomen,
Rachitic rosary,
Recurrent fractures,
Rickets,
Secondary hyperparathyroidism,
Short stature,
Sparse bone trabeculae,
Subperiosteal bone resorption,
Tetany,
Thin bony cortex,
Tibial bowing,
Wide cranial sutures,
Widely patent fontanelles and sutures
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Mouse (2 sources):
abnormal vitamin D level,
skeleton phenotype
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View all ortholog results at Monarch
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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.