| Monarch Ortholog Phenotypes
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Human (31 sources):
Abnormal nasal morphology,
Abnormal skeletal morphology,
Amelogenesis imperfecta,
Anterior open-bite malocclusion,
Aplasia/Hypoplasia of the eyebrow,
Brachydactyly,
Delayed skeletal maturation,
Dental enamel pits,
Dental malocclusion,
EEG abnormality,
Enamel hypoplasia,
Flexion contracture,
Growth delay,
Hearing impairment,
Hypergonadotropic hypogonadism,
Hypotonia,
Ichthyosis,
Intellectual disability,
Macrotia,
Microcephaly,
Photophobia,
Scoliosis,
Seizure,
Short corpus callosum,
Short stature,
Sparse body hair,
Sparse scalp hair,
Split hand,
Yellow-brown discoloration of the teeth,
obsolete Anterior open bite,
obsolete Hypotrichosis
[+]
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Mouse (8 sources):
abnormal hair follicle morphology,
abnormal response/metabolism to endogenous compounds,
absent Langerhans cell,
decreased Langerhans cell number,
decreased hair follicle number,
decreased susceptibility to injury,
overexpanded pulmonary alveoli,
respiratory system inflammation
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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.