Human (70 sources):
Abnormal carpal morphology,
Abnormal femoral neck morphology,
Abnormal hip bone morphology,
Abnormal metatarsal morphology,
Abnormality of calvarial morphology,
Abnormality of epiphysis morphology,
Abnormality of femur morphology,
Abnormality of pelvic girdle bone morphology,
Abnormality of the humerus,
Abnormality of the metaphysis,
Abnormality of the radius,
Abnormality of the ulna,
Abnormality of tibia morphology,
Aplasia/Hypoplasia of the fibula,
Aplastic/hypoplastic toenail,
Bowing of the long bones,
Brachydactyly,
Broad ulna,
Clinodactyly of the 5th finger,
Cone-shaped epiphysis,
Coxa valga,
Cubitus valgus,
Depressed nasal bridge,
Diaphyseal undertubulation,
Disproportionate short-limb short stature,
Dorsal subluxation of ulna,
Elbow dislocation,
Episodic ketoacidosis,
Exostoses,
Fibular hypoplasia,
Forearm undergrowth,
Genu valgum,
Genu varum,
High palate,
Hypoplasia of the radius,
Hypoplasia of the ulna,
Hypoplastic fingernail,
Increased carrying angle,
Joint stiffness,
Limited elbow movement,
Limited wrist movement,
Lower limb undergrowth,
Lumbar hyperlordosis,
Madelung deformity,
Mesomelia,
Mesomelic short stature,
Mesomelic/rhizomelic limb shortening,
Micrognathia,
Micromelia,
Multiple exostoses,
Obesity,
Patellar aplasia,
Radial bowing,
Rudimentary fibula,
Scoliosis,
Severe short stature,
Short 4th metacarpal,
Short femoral neck,
Short foot,
Short neck,
Short stature,
Short tibia,
Short toe,
Skeletal muscle hypertrophy,
Tibial bowing,
Ulnar bowing,
Ulnar deviation of finger,
Ulnar radial head dislocation,
Wide nasal bridge,
obsolete Abnormality of the metacarpal bones
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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.