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Anti-carbonic anhydrase VI antibody positivity
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HP_0034066 |
[The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI.] |
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(S)-2-hydroxyglutarate(2-)
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CHEBI_16782 |
[A 2-hydroxyglutarate(2-) that has (2S)-configuration.] |
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2-hydroxyglutarate(2-)
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CHEBI_11596 |
[A dicarboxylic acid dianion resulting from the removal of a proton from both of the carboxylic acid groups of 2-hydroxyglutaric acid.] |
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Tonofilament clumping
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HP_0034067 |
[Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes.] |
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Partial duplication of the distal phalanx of the hallux
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HP_0010097 |
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Anti-plasminogen binding peptide antibody positivity
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HP_0034068 |
[The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide.] |
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Complete duplication of the 1st metatarsal
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HP_0010098 |
[A developmental defect consisting in the complete duplication of the first metatarsal bone.] |
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Anti-parotid secretory protein antibody positivity
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HP_0034069 |
[The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein.] |
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Triangular shaped proximal phalanx of the hallux
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HP_0010092 |
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Triggered by fava bean ingestion
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HP_0034060 |
[Applies to a sign or symptom that is provoked or brought about by eating fava beans.] |
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Triggered by food ingestion
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HP_0033793 |
[Applies to a sign or symptom that is provoked or brought about by eating a certain food.] |
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Patchy sclerosis of the proximal phalanx of the hallux
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HP_0010090 |
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Anti-steroid 17alpha-hydroxylase antibody positivity
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HP_0034061 |
[The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase.] |
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Partial duplication of the proximal phalanx of the hallux
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HP_0010095 |
[Partial duplication of the proximal phalanx of big toe.] |
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Duplication of the proximal phalanx of the hallux
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HP_0010093 |
[Partial or complete duplication of the proximal phalanx of big toe.] |
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Anti-insulin antibody positivity
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HP_0034062 |
[The presence of autoantibodies (immunoglobulins) in the serum that react against insulin.] |
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Complete duplication of the distal phalanx of the hallux
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HP_0010096 |
|
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Anti-salivary protein antibody positivity
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HP_0034064 |
[The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein.] |
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Complete duplication of the proximal phalanx of the hallux
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HP_0010094 |
[Complete duplication of the proximal phalanx of big toe.] |
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Anti-Zinc transporter 8 antibody positivity
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HP_0034065 |
[The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8.] |