Monarch Ortholog Phenotypes
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Human (52 sources):
Abnormal electroretinogram,
Abnormality of bone mineral density,
Abnormality of retinal pigmentation,
Abnormality of speech or vocalization,
Abnormality of the kidney,
Ataxia,
Bronchiolitis,
Cataract,
Chronic kidney disease,
Cognitive impairment,
Cone-shaped epiphysis,
Congenital hepatic fibrosis,
Cryptorchidism,
Downslanted palpebral fissures,
External genital hypoplasia,
Finger syndactyly,
Generalized hirsutism,
Global developmental delay,
Hearing impairment,
Hepatic fibrosis,
Hypertension,
Hypogonadism,
Hypoplasia of penis,
Hypoplasia of the ovary,
Intellectual disability,
Low-set, posteriorly rotated ears,
Medial flaring of the eyebrow,
Multicystic kidney dysplasia,
Nephronophthisis,
Nephrotic syndrome,
Nystagmus,
Obesity,
Pigmentary retinopathy,
Postaxial hand polydactyly,
Premature ovarian insufficiency,
Progressive visual loss,
Prominent nasal bridge,
Recurrent otitis media,
Recurrent respiratory infections,
Renal agenesis,
Renal cyst,
Renal dysplasia,
Renal insufficiency,
Respiratory distress,
Retinal degeneration,
Retinal dystrophy,
Rod-cone dystrophy,
Short neck,
Short stature,
Skeletal muscle atrophy,
Stage 5 chronic kidney disease,
Visual impairment
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Mouse (18 sources):
abnormal DNA replication,
abnormal choroid plexus morphology,
abnormal electroretinogram waveform feature,
abnormal kidney corticomedullary boundary morphology,
abnormal kidney morphology,
abnormal nonmotile primary cilium morphology,
abnormal retina photoreceptor morphology,
cellular phenotype,
decreased retina cone cell number,
dilated renal tubules,
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View all ortholog results at Monarch
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