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blastoma
|
DOID_0070003 |
[A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells.] |
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Peters anomaly
|
DOID_0060673 |
[A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.] |
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Abnormal muscle physiology
|
HP_0011804 |
|
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buccal salivary gland
|
UBERON_0012102 |
|
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saliva-secreting gland
|
UBERON_0001044 |
|
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Mansoniini
|
NCBITaxon_254792 |
|
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Culicinae
|
NCBITaxon_43817 |
|
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neuron projection bundle
|
UBERON_0000122 |
|
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Seckel syndrome 7
|
DOID_0070011 |
[A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22.] |
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Seckel syndrome 5
|
DOID_0070012 |
[A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.] |
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face
|
UBERON_0001456 |
|
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Seckel syndrome 4
|
DOID_0070010 |
[A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12.] |
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cell layer
|
UBERON_0000119 |
|
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lamina
|
UBERON_0000957 |
|
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autosomal recessive dyskeratosis congenita 3
|
DOID_0070019 |
[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1.] |
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respiratory tube
|
UBERON_0000117 |
|
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tube
|
UBERON_0000025 |
|
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autosomal recessive dyskeratosis congenita 2
|
DOID_0070017 |
[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3.] |
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autosomal dominant dyskeratosis congenita 3
|
DOID_0070018 |
[A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12.] |
|
autosomal recessive dyskeratosis congenita 1
|
DOID_0070015 |
[A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14.] |