Monarch Ortholog Phenotypes
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Human (56 sources):
Abnormal heart valve morphology,
Abnormal hip bone morphology,
Abnormal pleura morphology,
Abnormality of the dentition,
Acetabular dysplasia,
Anterior beaking of lower thoracic vertebrae,
Anterior beaking of lumbar vertebrae,
Arteriovenous malformation,
Ascites,
Cardiomyopathy,
Coarse facial features,
Corneal opacity,
Dermatan sulfate excretion in urine,
Diaphyseal undertubulation,
Dysostosis multiplex,
Enlarged thorax,
Epiphyseal stippling,
Failure to thrive,
Flat face,
Flexion contracture,
Genu valgum,
Gingival overgrowth,
Hearing impairment,
Heparan sulfate excretion in urine,
Hepatitis,
Hepatomegaly,
Hirsutism,
Hydrocephalus,
Hydrops fetalis,
Hypoplasia of the odontoid process,
Hypotonia,
Intellectual disability,
J-shaped sella turcica,
Joint stiffness,
Lymphedema,
Macrocephaly,
Metatarsus adductus,
Narrow greater sciatic notch,
Neurodegeneration,
Pectus carinatum,
Platyspondyly,
Poor speech,
Proximal tapering of metacarpals,
Recurrent respiratory infections,
Recurrent upper respiratory tract infections,
Scoliosis,
Short neck,
Short stature,
Splenomegaly,
Talipes equinovarus,
Thick eyebrow,
Thoracolumbar kyphosis,
Umbilical hernia,
Urinary glycosaminoglycan excretion,
Widely spaced teeth,
obsolete Decreased pulmonary function
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Mouse (23 sources):
abnormal articular cartilage morphology,
abnormal cell morphology,
abnormal enzyme/coenzyme level,
abnormal epiphyseal plate morphology,
abnormal lactation,
abnormal lysosome morphology,
abnormal neurocranium morphology,
abnormal renal glomerulus morphology,
abnormal sexual interaction,
accumulation of giant lysosomes in kidney/renal tubule cells,
deafness,
decreased body length,
decreased body size,
decreased white adipose tissue amount,
disproportionate dwarf,
increased diameter of long bones,
neonatal lethality, incomplete penetrance,
osteosclerosis,
postnatal lethality,
premature death,
short tail,
small nasal bone,
thick tail
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View all ortholog results at Monarch
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