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Abnormal limb bone morphology
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HP_0002813 |
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Abnormality of limb bone
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HP_0040068 |
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Abnormal appendicular skeleton morphology
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HP_0011844 |
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absence epilepsy
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DOID_0070309 |
[An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram.] |
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electroclinical syndrome
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DOID_0050701 |
[An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.] |
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Coxa vara
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HP_0002812 |
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Abnormal femoral neck morphology
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HP_0003367 |
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Abnormality of the knee
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HP_0002815 |
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Abnormality of lower limb joint
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HP_0100491 |
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craniolenticulosutural dysplasia
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DOID_0070307 |
[A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects.] |
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Abnormality of the lower limb
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HP_0002814 |
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rippling muscle disease 1
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DOID_0070308 |
[A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise.] |
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susceptibility to cutaneous malignant melanoma 6
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MIM_613972 |
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tenesmus
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SYMP_0000648 |
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terminal ileitis
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SYMP_0000649 |
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Phthiraptera
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NCBITaxon_85819 |
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Psocodea
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NCBITaxon_1930602 |
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synovitis
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SYMP_0000646 |
[Synovitis is a joint inflammation characterized by an inflammation of a synovial membrane usually with pain and swelling of the joint.] |
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joint inflammation
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SYMP_0000313 |
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sulfonic acid derivative
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CHEBI_33552 |
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