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sitosterolemia 1
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DOID_0070634 |
[A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21.] |
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acute myeloid leukemia with FUS-ERG fusion
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DOID_0070631 |
[An acute myeloid leukemia associated with FUS-ERG gene fusion.] |
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acute myeloid leukemia with MNX1-ETV6 fusion
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DOID_0070632 |
[An acute myeloid leukemia associated with MXN1-ETV6 gene fusion.] |
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acute myeloid leukemia with KAT6A-CREBBP fusion
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DOID_0070630 |
[An acute myeloid leukemia associated with KAT6A-CREBBP gene fusion.] |
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melena
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SYMP_0000323 |
[A feces and droppings symptom that is characterized by the passage of dark tarry stools containing decomposing blood that is usually an indication of bleeding in the upper part of the alimentary canal and especially the esophagus, stomach, and duodenum.] |
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low birth weight
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SYMP_0000322 |
[A weight symptom that is characterized by an infant weighing 5.5 pounds (2500 grams) or less at birth. Low birth weight may occur with premature birth, or due to smoking cigarettes, secondhand tobacco smoke exposure, drinking alcohol, and taking certain drugs during pregnancy.] |
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mirror movements 3
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DOID_0070639 |
[A congenital mirror movement disorder that has_material_basis_in homozygous mutation in the DNAL4 gene on chromosome 22q13.] |
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mirror movements 2
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DOID_0070637 |
[A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15.] |
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mirror movements 4
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DOID_0070638 |
[A congenital mirror movement disorder that has_material_basis_in heterozygous mutation in the NTN1 gene on chromosome 17p13.] |
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nystagmus
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SYMP_0000338 |
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occasional diplopia
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SYMP_0000339 |
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double vision
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SYMP_0000258 |
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neurological dysfunction
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SYMP_0000336 |
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night sweats
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SYMP_0000337 |
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Abnormal ureter physiology
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HP_0025634 |
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Portunoidea
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NCBITaxon_6774 |
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Heterotremata
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NCBITaxon_116706 |
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Spirochaetota
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NCBITaxon_203691 |
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autosomal dominant nonsyndromic deafness 80
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DOID_0070602 |
[An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11.] |
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Solanum
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NCBITaxon_4107 |
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