Human (66 sources):
Abnormal thorax morphology,
Abnormality of pelvic girdle bone morphology,
Abnormality of the nervous system,
Absent ossification of calvaria,
Absent pulmonary artery,
Basilar impression,
Biconcave flattened vertebrae,
Biconcave vertebral bodies,
Blue sclerae,
Bowing of limbs due to multiple fractures,
Bowing of the legs,
Breech presentation,
Broad long bones,
Congestive heart failure,
Convex nasal ridge,
Coxa vara,
Crumpled long bones,
Decreased calvarial ossification,
Delayed cranial suture closure,
Dentinogenesis imperfecta,
Disproportionate short-limb short stature,
Externally rotated/abducted legs,
Femoral bowing present at birth, straightening with time,
Frontal bossing,
Hearing impairment,
Hydronephrosis,
Hypoplastic pulmonary veins,
Increased susceptibility to fractures,
Kyphosis,
Large fontanelles,
Long philtrum,
Micrognathia,
Micromelia,
Multiple prenatal fractures,
Multiple rib fractures,
Narrow chest,
Neonatal short-limb short stature,
Nonimmune hydrops fetalis,
Osteopenia,
Otosclerosis,
Pectus excavatum,
Platybasia,
Platyspondyly,
Premature birth,
Proptosis,
Protrusio acetabuli,
Pulmonary arterial hypertension,
Pulmonary insufficiency,
Recurrent fractures,
Reduced bone mineral density,
Respiratory insufficiency,
Rhizomelia,
Round face,
Scoliosis,
Severe generalized osteoporosis,
Short stature,
Slender long bone,
Small for gestational age,
Thin skin,
Tibial bowing,
Triangular face,
Vertebral compression fracture,
Wide anterior fontanel,
Wide cranial sutures,
Wormian bones,
obsolete Beaded ribs
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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.