| Monarch Ortholog Phenotypes
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Human (48 sources):
Abnormality of the nervous system,
Abnormal thorax morphology,
Arachnodactyly,
Basilar impression,
Biconcave vertebral bodies,
Blue sclerae,
Bowing of limbs due to multiple fractures,
Broad forehead,
Cognitive impairment,
Decreased body weight,
Decreased calvarial ossification,
Delayed gross motor development,
Dentinogenesis imperfecta,
Dislocated radial head,
Disproportionate short-limb short stature,
Frontal bossing,
Generalized hypotonia,
Hearing impairment,
Hypotonia,
Increased bone mineral density,
Joint hypermobility,
Kyphoscoliosis,
Kyphosis,
Long eyelashes,
Long palpebral fissure,
Long philtrum,
Micrognathia,
Multiple prenatal fractures,
Neonatal short-limb short stature,
Osteoporosis,
Pectus carinatum,
Platybasia,
Platyspondyly,
Protruding ear,
Protrusio acetabuli,
Pulmonary arterial hypertension,
Recurrent fractures,
Scoliosis,
Severe generalized osteoporosis,
Short stature,
Skeletal muscle atrophy,
Slender long bone,
Thin vermilion border,
Tibial bowing,
Triangular face,
Umbilical hernia,
Wide anterior fontanel,
Wormian bones
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Mouse (8 sources):
abnormal amnion morphology,
abnormal embryonic tissue morphology,
embryo phenotype,
perinatal lethality, incomplete penetrance,
skeleton phenotype,
small frontal bone,
small interparietal bone,
small parietal bone
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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.