Human (102 sources):
Abnormal thorax morphology,
Abnormality of pelvic girdle bone morphology,
Abnormality of subcutaneous fat tissue,
Abnormality of the nervous system,
Absent ossification of calvaria,
Aortic aneurysm,
Aortic regurgitation,
Aphasia,
Atrophic scars,
Avascular necrosis of the capital femoral epiphysis,
Basilar impression,
Biconcave flattened vertebrae,
Biconcave vertebral bodies,
Bladder diverticulum,
Blue sclerae,
Bowing of limbs due to multiple fractures,
Breech presentation,
Broad long bones,
Bruising susceptibility,
Calcaneovalgus deformity,
Congenital bilateral hip dislocation,
Congestive heart failure,
Convex nasal ridge,
Coxa valga,
Coxa vara,
Crumpled long bones,
Decreased calvarial ossification,
Delayed gross motor development,
Dentinogenesis imperfecta,
Depressed nasal bridge,
Disproportionate short-limb short stature,
Dysphasia,
Echolalia,
Epicanthus,
Femoral bowing,
Femoral bowing present at birth, straightening with time,
Femoral hernia,
Fragile skin,
Frontal bossing,
Generalized hypotonia,
Genu recurvatum,
Growth abnormality,
Hallux valgus,
Hearing impairment,
Hip dislocation,
Hip dysplasia,
Hyperextensibility of the finger joints,
Hyperextensible skin,
Hyperlordosis,
Hypertelorism,
Hypotonia,
Increased susceptibility to fractures,
Joint dislocation,
Joint hypermobility,
Joint stiffness,
Joint subluxation,
Kyphosis,
Large fontanelles,
Malar flattening,
Micrognathia,
Midface retrusion,
Mild short stature,
Mitral regurgitation,
Mitral valve prolapse,
Multiple prenatal fractures,
Muscle flaccidity,
Mutism,
Neonatal short-limb short stature,
Nonimmune hydrops fetalis,
Osteopenia,
Otosclerosis,
Pectus excavatum,
Pes planus,
Platybasia,
Platyspondyly,
Poor wound healing,
Premature birth,
Premature osteoarthritis,
Protrusio acetabuli,
Pulmonary arterial hypertension,
Pulmonary insufficiency,
Recurrent fractures,
Reduced bone mineral density,
Respiratory insufficiency,
Retrognathia,
Scarring,
Scoliosis,
Severe generalized osteoporosis,
Severe short stature,
Short stature,
Slender long bone,
Small for gestational age,
Soft skin,
Talipes equinovarus,
Thin skin,
Tibial bowing,
Triangular face,
Wide anterior fontanel,
Wormian bones,
obsolete Beaded ribs,
obsolete Joint hyperflexibility,
obsolete Joint laxity
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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.