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Symphalangism affecting the distal phalanges of the toes
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HP_0010191 |
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Abnormal circulating interleukin 9 concentration
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HP_0034160 |
[Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation.] |
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Reduced circulating interleukin 9 concentration
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HP_0034161 |
[An abnormally decreased concentration of interleukin 9 in the blood circulation.] |
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Aplasia/Hypoplasia of the middle phalanges of the toes
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HP_0010194 |
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Abnormal circulating interleukin 10 concentration
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HP_0034162 |
[Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation.] |
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Broad middle phalanges of the toes
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HP_0010195 |
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Reduced circulating interleukin 10 concentration
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HP_0034163 |
[An abnormally decreased concentration of interleukin 10 in the blood circulation.] |
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Triangular shaped distal phalanges of the toes
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HP_0010192 |
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Duplication of distal phalanx of toe
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HP_0010193 |
[A partial or complete duplication of one or more distal phalanx of toe.] |
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glial fibrillary acidic protein
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PR_000007939 |
[A protein that is a translation product of the human GFAP gene or a 1:1 ortholog thereof.] |
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Anti-Ki antibody positivity
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HP_0034154 |
[The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki.] |
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Anti-sp100 antibody positivity
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HP_0034155 |
[The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins.] |
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Anti-multiple nuclear dots antibody positivity
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HP_0025353 |
[A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.] |
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Anti-beta-2-Glycoprotein I IgG antibody positivity
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HP_0034156 |
[Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.] |
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Anti-beta 2 glycoprotein I antibody positivity
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HP_0032376 |
[Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).] |
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Anti-beta-2-Glycoprotein I IgM antibody positivity
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HP_0034157 |
[Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.] |
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Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity
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HP_0034158 |
[The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions.] |
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Anti-islet antigen-2 antibody positivity
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HP_0034063 |
[The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.] |
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Paget disease of bone
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HP_0034159 |
[A localized disorder of bone remodeling. Increased numbers of larger than normal osteoclasts initiate the process at affected skeletal sites, and the increase in bone resorption is followed by an increase in new bone formation, altering bone architecture.] |
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Anti-tyrosyl-tRNA synthetase antibody positivity
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HP_0034150 |
[The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase.] |