| 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:0000866 | Euthyroid multinodular goiter | |
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| HP:0001472 | Familial predisposition | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002664 | Neoplasia | "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant tumour or neoplasm." [HPO:curators] |
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| HP:0002667 | Nephroblastoma (Wilms tumor) | "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators] |
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| HP:0002671 | Basal cell carcinoma | |
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| HP:0002859 | Rhabdomyosarcoma | |
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| HP:0002885 | Medulloblastoma | |
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| HP:0002890 | Thyroid carcinoma | |
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| HP:0002895 | Papillary thyroid carcinoma | |
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| HP:0005584 | Renal cell carcinoma | "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators] |
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| HP:0005987 | Multinodular goiter | |
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| HP:0006743 | Embryonal rhabdomyosarcoma | |
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| HP:0006779 | Alveolar rhabdomyosarcoma | |
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| HP:0007129 | Cerebellar medulloblastoma | |
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| HP:0025388 | Thyroid nodule | "A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland." [] |
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| HP:0030071 | Medulloepithelioma | "A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal." [pmid:17566306] |
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| HP:0030434 | Pilomatrixoma | "Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm." [HPO:probinson, pmid:21430899] |
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| HP:0030983 | Ovarian thecoma | "A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types." [NCIT:C1882229, PMID:27284435] |
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| HP:0100528 | Pleuropulmonary blastoma | "A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant." [HPO:sdoelken] |
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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:0100617 | Testicular seminoma | "The presence of a `seminoma` (MPATH:317), an undifferentiated germ cell tumor of the `testis` (FMA:7210)." [HPO:sdoelken] |
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| HP:0100619 | Sertoli cell neoplasm | "The presence of a `neoplasm` (MPATH:218) of the `testis` (FMA:7210) with origin in a ` Sertoli cell` (CL:0000216)." [HPO:probinson] |
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| HP:0200063 | Colorectal polyps | |
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