| Monarch Ortholog Phenotypes
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Human (49 sources):
Adducted thumb,
Anteverted nares,
Ascites,
Brachycephaly,
Cardiomegaly,
Cerebellar hypoplasia,
Cleft palate,
Decreased fibular diameter,
Decreased skull ossification,
Disproportionate short-limb short stature,
Flared metaphysis,
Flat face,
Flexion contracture,
Fractured radius,
Hydronephrosis,
Hydrops fetalis,
Hypertelorism,
Hypertrophic cardiomyopathy,
Hypospadias,
Intrauterine growth retardation,
Large fleshy ears,
Low-set ears,
Microcephaly,
Micrognathia,
Micropenis,
Multiple prenatal fractures,
Multiple rib fractures,
Osteopenia,
Platyspondyly,
Pleural effusion,
Polyhydramnios,
Posteriorly rotated ears,
Prominent forehead,
Pulmonary hypoplasia,
Short femur,
Short neck,
Short nose,
Short ribs,
Single umbilical artery,
Small for gestational age,
Telecanthus,
Thoracic hypoplasia,
Unilateral cleft lip,
Ventricular septal defect,
Ventriculomegaly,
Webbed neck,
Wide nasal bridge,
Wormian bones,
obsolete Beaded ribs
[+]
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Mouse (4 sources):
abnormal sternocostal joint morphology,
lumbar vertebral transformation,
perinatal lethality, complete penetrance,
thoracic vertebral transformation
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View all ortholog results at Monarch
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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.