| Monarch Ortholog Phenotypes
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Human (35 sources):
Abnormal thorax morphology,
Abnormality of the nervous system,
Basilar impression,
Biconcave vertebral bodies,
Blue sclerae,
Bowing of limbs due to multiple fractures,
Conductive hearing impairment,
Decreased calvarial ossification,
Dentinogenesis imperfecta,
Disproportionate short-limb short stature,
Frontal bossing,
Hearing impairment,
Joint hypermobility,
Kyphosis,
Mesomelia,
Micrognathia,
Multiple prenatal fractures,
Neonatal short-limb short stature,
Osteopenia,
Platybasia,
Protrusio acetabuli,
Pulmonary arterial hypertension,
Recurrent fractures,
Rhizomelia,
Scoliosis,
Severe generalized osteoporosis,
Slender long bone,
Small for gestational age,
Tibial bowing,
Tooth agenesis,
Triangular face,
Vertebral compression fracture,
Wide anterior fontanel,
Wormian bones,
obsolete Beaded ribs
[+]
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Mouse (9 sources):
abnormal bone marrow cell morphology/development,
abnormal circulating alkaline phosphatase level,
abnormal osteoblast differentiation,
abnormal osteoblast morphology,
decreased bone mineralization,
decreased bone ossification,
decreased trabecular bone thickness,
increased circulating alkaline phosphatase level,
increased total body fat amount
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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.