Human (135 sources):
Abnormal diaphysis morphology,
Abnormal epiphysis morphology,
Abnormal form of the vertebral bodies,
Abnormality of the dentition,
Abnormal metaphysis morphology,
Abnormal pinna morphology,
Abnormal rib morphology,
Abnormal vitreous humor morphology,
Absent frontal sinuses,
Amblyopia,
Anterior rib cupping,
Anteverted nares,
Arachnodactyly,
Arthralgia,
Arthropathy,
Astigmatism,
Bell-shaped thorax,
Bifid uvula,
Brachycephaly,
Brachydactyly,
Broad ischia,
Broad long bones,
Broad ribs,
Calcification of falx cerebri,
Camptodactyly,
Camptodactyly of finger,
Cataract,
Cerebral calcification,
Cleft palate,
Clinodactyly of the 5th finger,
Corneal opacity,
Coxa valga,
Depressed nasal bridge,
Developmental cataract,
Downslanted palpebral fissures,
Dumbbell-shaped long bone,
Ectopia lentis,
Epicanthus,
Epiphyseal dysplasia,
Esotropia,
Femoral bowing,
Fibular hypoplasia,
Flat face,
Frontal bossing,
Genu valgum,
Glaucoma,
Glossoptosis,
Hearing abnormality,
High myopia,
High, narrow palate,
High palate,
Hydrops fetalis,
Hypertelorism,
Hypohidrosis,
Hypoplasia of the maxilla,
Hypoplasia of the zygomatic bone,
Hypoplastic fingernail,
Hypoplastic frontal sinuses,
Hypoplastic ilia,
Hypoplastic ischia,
Hypoplastic scapulae,
Hypoplastic toenails,
Irregular distal femoral epiphysis,
Irregular femoral epiphysis,
Irregular proximal tibial epiphyses,
Irregular vertebral endplates,
Joint contracture of the hand,
Joint hypermobility,
Lens luxation,
Long clavicles,
Long philtrum,
Low-set ears,
Macrodontia of permanent maxillary central incisor,
Malar flattening,
Megalocornea,
Meningeal calcification,
Metaphyseal widening,
Micrognathia,
Micromelia,
Midface retrusion,
Myopia,
Narrow chest,
Narrow greater sciatic notch,
Narrow mouth,
Nystagmus,
obsolete Hypotrichosis,
obsolete Joint hyperflexibility,
obsolete Sparse and thin eyebrow,
Omphalocele,
Osteoarthritis,
Patent foramen ovale,
Pierre-Robin sequence,
Plagiocephaly,
Platyspondyly,
Posterior rib cupping,
Posterior vertebral hypoplasia,
Premature birth,
Proptosis,
Protuberant abdomen,
Radial bowing,
Respiratory insufficiency,
Retinal detachment,
Retinopathy,
Rhizomelia,
Round face,
Sensorineural hearing impairment,
Short femur,
Short foot,
Short long bone,
Short neck,
Short nose,
Short palm,
Short ribs,
Short stature,
Small distal femoral epiphysis,
Small hand,
Small proximal tibial epiphyses,
Sparse eyelashes,
Spondyloepiphyseal dysplasia,
Strabismus,
Thickened calvaria,
Thick lower lip vermilion,
Thick upper lip vermilion,
Thin clavicles,
Thin ribs,
Thoracic hypoplasia,
Ulnar bowing,
Upper airway obstruction,
Visual impairment,
Vitreoretinopathy,
Wide anterior fontanel,
Widely patent coronal suture,
Widely patent sagittal suture,
Wide nasal bridge,
Wide tufts of distal phalanges
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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.