Human (73 sources):
Abnormal fingernail morphology,
Abnormal form of the vertebral bodies,
Abnormality of epiphysis morphology,
Abnormality of the metaphysis,
Abnormally ossified vertebrae,
Accelerated skeletal maturation,
Advanced ossification of carpal bones,
Advanced tarsal ossification,
Anterior rib cupping,
Anteverted nares,
Bell-shaped thorax,
Blue sclerae,
Brachydactyly,
Broad thumb,
Cleft palate,
Cryptorchidism,
Delayed skeletal maturation,
Depressed nasal bridge,
Diaphyseal undertubulation,
Disproportionate short-limb short stature,
Dolichocephaly,
Dumbbell-shaped long bone,
Edema,
Fibular hypoplasia,
Flat acetabular roof,
Flat occiput,
Frontal bossing,
Generalized hypotonia,
Hepatomegaly,
Hypertelorism,
Hypophosphatemia,
Hypoplastic ilia,
Hypoplastic ischia,
Hypoplastic pubic bone,
Hypoplastic scapulae,
Hypoplastic toenails,
Hypotonia,
Increased fibular diameter,
Joint stiffness,
Large fontanelles,
Lateral clavicle hook,
Long philtrum,
Lymphedema,
Macrocephaly,
Malar flattening,
Metaphyseal cupping,
Metaphyseal irregularity,
Micromelia,
Midface retrusion,
Narrow chest,
Ovoid vertebral bodies,
Pectus excavatum,
Polyhydramnios,
Posterior rib cupping,
Protuberant abdomen,
Recurrent respiratory infections,
Renal phosphate wasting,
Respiratory insufficiency,
Rhizomelia,
Scoliosis,
Severe platyspondyly,
Severe short stature,
Short foot,
Short long bone,
Short neck,
Short nose,
Short palm,
Short ribs,
Snail-like ilia,
Splenomegaly,
Squared iliac bones,
Tapered finger,
Vertebral hypoplasia
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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.