| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Costello syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Dyskeratosis congenita |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Beckwith-Wiedemann syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Familial multiple tumor syndrome |
Is a |
False |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Von Hippel-Lindau syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Multiple endocrine neoplasia, type 2 |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Familial cancer of breast |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Xeroderma pigmentosum |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Nephroblastoma |
Is a |
False |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Sotos' syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Fanconi's anemia |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Microcephaly, normal intelligence and immunodeficiency |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Familial multiple polyposis syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Simpson-Golabi-Behmel syndrome (disorder) |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Drash syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Li-Fraumeni syndrome (disorder) |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Bannayan syndrome |
Is a |
False |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Cockayne syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Noonan's syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Autosomal dominant disease caused by a germline mutation in a DNA mismatch repair (MMR) gene and manifest by hereditary malignancy. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Multiple endocrine neoplasia, type 1 (disorder) |
Is a |
False |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Arteriohepatic dysplasia |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Ataxia-telangiectasia syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Aase syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Rubinstein-Taybi syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Polyostotic fibrous dysplasia of bone |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Schinzel-Giedion syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Werner syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Tuberous sclerosis syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Congenital neutropenia |
Is a |
False |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Mosaic variegated aneuploidy syndrome (disorder) |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Emberger syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Ataxia-telangiectasia-like disorder (disorder) |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Neurofibramatosis 3 |
Is a |
False |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Neurofibromatosis 2 |
Is a |
False |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Neurofibromatosis 1 |
Is a |
False |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Schöpf-Schulz-Passarge syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Megalencephaly capillary malformation |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Familial nonpolyposis colorectal cancer |
Is a |
False |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Aicardi's syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Common variable agammaglobulinemia |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Langerhans cell histiocytosis - Hashimoto-Pritzker type (disorder) |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Rothmund-Thomson syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Wiskott-Aldrich syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Tyrosinemia type I (disorder) |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare inherited skin cancer syndrome characterized by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Patients and families with a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or the EPCAM gene but who have not met the criteria for hereditary nonpolyposis colon cancer. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors). |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Familial renal cell carcinoma (disorder) |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubé syndrome. |
Is a |
False |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Combined immunodeficiency due to OX40 deficiency is a rare, combined T and B cell immunodeficiency characterised by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| High risk of developing malignant rhabdoid tumours that are highly aggressive and rare in the general population. The tumours usually occur in the first year of life, however for those with this syndrome they occur at an average age of 4 to 7 months or even before birth. The tumours spread more quickly than those in children without this predisposition, and affected individuals often do not survive past childhood. More than half of the tumours develop in the cerebellum, but can also occur outside the central nervous system. Caused by mutations in the SMARCB1 gene. These cases are sometimes known as RTPS1. A small number of cases (called RTPS2) are caused by mutations in the SMARCA4 gene. The majority of cases are caused by SMARCB1 gene mutations which may occur in people with no history of the disorder in their family. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| X-linked severe congenital neutropenia is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Shwachman syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare, inherited cancer-predisposing syndrome characterized by an early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| B-K mole (nevus) syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Follicular atrophoderma and basal cell epitheliomata |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Multiple self-healing epithelioma of Ferguson-Smith |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| DICER1 syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Multiple endocrine neoplasia, type 2b |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Neurofibromatosis syndrome |
Is a |
False |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Gorlin syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Peutz-Jeghers syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Autoimmune lymphoproliferative syndrome |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare inherited cancer-predisposing syndrome characterised by adult onset of haematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukaemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of haematologic malignancies. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare immune dysregulation disease with immunodeficiency characterized by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumors have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare primary lymphoedema characterised by extensive, multisegmental lymphoedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal naevi and capillary malformations have also been reported. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| Hereditärer neuroendokriner Tumor des Dünndarms |
Is a |
False |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. |
Is a |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
|
| At increased risk of hereditary cancer-predisposing syndrome (finding) |
This attribute specifies the realization of a function |
True |
Hereditary cancer-predisposing syndrome |
Inferred relationship |
Some |
2 |
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