Monarch Ortholog Phenotypes
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Human (35 sources):
Abnormal clavicle morphology,
Abnormality of retinal pigmentation,
Abnormality of the dentition,
Angioid streaks of the fundus,
Ankylosis,
Barrel-shaped chest,
Bowing of the long bones,
Coarse metaphyseal trabecularization,
Cranial hyperostosis,
Elevated circulating alkaline phosphatase concentration,
Elevated serum acid phosphatase,
Hearing impairment,
Hydroxyprolinemia,
Hydroxyprolinuria,
Hyperphosphatemia,
Hypertension,
Hyperuricemia,
Increased bone mineral density,
Kyphosis,
Macrocephaly,
Macular scar,
Melanocytic nevus,
Motor delay,
Muscle weakness,
Optic atrophy,
Osteoporosis,
Pectus carinatum,
Premature loss of teeth,
Recurrent fractures,
Retinal degeneration,
Retinopathy,
Sensorineural hearing impairment,
Short stature,
Subcutaneous nodule,
Thickened calvaria
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Mouse (33 sources):
abnormal bone remodeling,
abnormal dendritic cell antigen presentation,
abnormal distortion product otoacoustic emission,
abnormal incus body morphology,
abnormal kidney morphology,
abnormal long bone epiphyseal plate morphology,
abnormal malleus morphology,
abnormal mandible morphology,
abnormal middle ear ossicle morphology,
abnormal osteoblast morphology,
abnormal osteoclast differentiation,
abnormal osteoclast morphology,
abnormal osteoclast physiology,
abnormal otic capsule morphology,
abnormal pro-B cell differentiation,
abnormal skeleton development,
abnormal skeleton physiology,
abnormal stapes annular ligament morphology,
abnormal stapes footplate morphology,
absent bone trabeculae,
absent distortion product otoacoustic emissions,
deafness,
decreased body size,
decreased trabecular bone mass,
increased diameter of long bones,
increased immature B cell number,
increased or absent threshold for auditory brainstem response,
increased osteoclast cell number,
increased pro-B cell number,
increased susceptibility to age-related hearing loss,
postnatal lethality, incomplete penetrance,
short femur neck,
thin parietal bone
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View all ortholog results at Monarch
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