| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0001386 | Joint swelling | |
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| HP:0001824 | Weight loss | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0001945 | Fever | |
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| HP:0002448 | Encephalopathy, progressive | |
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| HP:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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| HP:0002669 | Osteogenic sarcoma | |
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| HP:0002756 | Pathologic fracture | "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] |
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| HP:0002797 | Osteolysis | |
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| HP:0002858 | Meningioma | |
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| HP:0002861 | Malignant melanoma | "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators] |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0003002 | Breast cancer | |
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| HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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| HP:0004375 | Neoplasia of the nervous system | |
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| HP:0006489 | Abnormality of the femoral metaphysis | |
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| HP:0006491 | Abnormality of the tibial metaphysis | |
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| HP:0008069 | Neoplasia of the skin | |
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| HP:0009733 | Glioma | "A type of brain or spinal tumor originating from a glial cell. Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas." [HPO:curators] |
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| HP:0009919 | Retinoblastoma | "A tumor of the eye originating from cells of the retina." [HPO:curators] |
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| HP:0011027 | Abnormality of the fallopian tube | "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson] |
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| HP:0012125 | Prostate cancer | "A cancer of the `prostate` (FMA:9600)." [HPO:probinson] |
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| HP:0012126 | Stomach cancer | "A cancer arising in any part of the stomach." [HPO:probinson] |
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| HP:0012531 | Pain | "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432] |
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| HP:0030406 | Primary peritoneal carcinoma | "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson] |
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| HP:0045040 | Abnormal lactate dehydrogenase activity | |
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| HP:0100242 | Sarcoma | "The presence of a `sarcoma` (MPATH:551)." [HPO:sdoelken] |
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| HP:0100273 | Neoplasia of the colon | |
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| HP:0100615 | Ovarian neoplasm | "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] |
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| HP:0100641 | Cortical adrenal neoplasia | |
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