description: Intrahepatic cholangiocarcinoma that has spread from its original site of growth to another anatomic site.


name: Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A carcinoma that arises from the extrahepatic bile ducts and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component.  At least 30 percent of either component should be present for the diagnosis to be made.


Unresectable Hilar Cholangiocarcinoma

description: Hilar cholangiocarcinoma that is not amenable to surgical resection.


name: Stage III Hilar Cholangiocarcinoma AJCC v8

description: Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); IIIC: (Any T, N1, M0). T3: Tumor invading unilateral branches of the portal vein or hepatic artery. T4: Tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. N1: One to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Intrahepatic Cholangiocarcinoma by AJCC v7 Stage

description: A term that refers to the staging of intrahepatic cholangiocarcinoma according to the American Joint Committee on Cancer, 7th edition.


name: Stage IIIA Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IIIA includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IIA Distal Bile Duct Cancer AJCC v8

description: Stage IIA includes: (T1, N1, M0); (T2, N0, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage II Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage II includes: T2, N0, M0.  T2: Solitary tumor with vascular invasion or multiple tumors, with or without vascular invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Refractory Distal Bile Duct Adenocarcinoma

description: Distal bile duct adenocarcinoma that is resistant to treatment.


Metastatic Distal Bile Duct Carcinoma

description: A distal bile duct carcinoma that has spread from its original site of growth to other anatomic sites.


name: Extrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

description: A papillary neoplasm that arises from the epithelium of the extrahepatic bile ducts and it is associated with an invasive carcinomatous component.  The carcinomatous component is an adenocarcinoma.


description: Intrahepatic cholangiocarcinoma that is amenable to surgical resection.


name: Stage IIA Distal Bile Duct Cancer AJCC v7

description: Stage IIA includes: T3, N0, M0.  T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Cholangiocarcinoma recurrent

description: The reemergence of cholangiocarcinoma after a period of remission.


name: Small Duct Intrahepatic Cholangiocarcinoma

description: An intrahepatic cholangiocarcinoma that arises from the small interlobular bile ducts.


name: Stage 0 Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ (intraductal tumor). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Distal Bile Duct Cancer by AJCC v7 Stage

description: A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 7th edition.


description: Intrahepatic cholangiocarcinoma that is resistant to treatment.


name: Extrahepatic Bile Duct Adenocarcinoma, Gastric Foveolar Type

description: An unusual, well differentiated adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of tall malignant columnar cells with mucin-containing cytoplasm and basally located nuclei.


description: Intrahepatic cholangiocarcinoma that is not amenable to surgical removal.


name: Stage II Hilar Cholangiocarcinoma AJCC v7

description: Stage II includes: T2a-b, N0, M0.  T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue.  T2b: Tumor invades adjacent hepatic parenchyma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage III Distal Bile Duct Cancer AJCC v7

description: Stage III includes: T4, Any N, M0. T4: Tumor involves the celiac axis or the superior mesenteric artery.  M0: No distant metastasis. (from AJCC 7th Ed.)


Locally Advanced Cholangiocarcinoma

description: Cholangiocarcinoma that has spread to nearby tissues or lymph nodes.


name: Stage I Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage I includes: IA (T1a, N0, M0); IB (T1b, N0, M0). T1a: Solitary tumor equal or less than 5 cm without vascular invasion.  T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Unresectable Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that is not amenable to surgical removal.


name: Stage IIIB Hilar Cholangiocarcinoma AJCC v8

description: Stage IIIB includes: T4, N0, M0. T4: Tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Resectable Extrahepatic Bile Duct Adenocarcinoma

description: Extrahepatic bile duct adenocarcinoma that is amenable to surgical resection.


name: Stage IIIA Hilar Cholangiocarcinoma AJCC v7

description: Stage IIIA includes: T3, N0, M0. T3: Tumor invades unilateral branches of the portal vein or hepatic artery.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Intrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

description: A papillary neoplasm that arises from the epithelium of the intrahepatic bile ducts and it is associated with an invasive carcinomatous component.  The carcinomatous component is an intrahepatic cholangiocarcinoma.


name: Stage I Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage I includes: T1, N0, M0. T1: Solitary tumor without vascular invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage III Distal Bile Duct Cancer AJCC v8

description: Stage III includes: IIIA: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); IIIB: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Bile duct adenocarcinoma resectable

description: Bile duct adenocarcinoma that is amenable to surgical resection.


name: Extrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma

description: A mucinous cystic neoplasm that arises from the extrahepatic bile ducts and it is associated with an invasive carcinomatous component.


Stage 0 Distal Bile Duct Cancer AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ/high-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Distal Bile Duct Cancer AJCC v7

description: Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Refractory Cholangiocarcinoma

description: Cholangiocarcinoma that is resistant to treatment.


name: large cell neuroendocrine carcinoma of extrahepatic bile duct

description: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts.  It is characterized by the presence of malignant large cells.


choroid spindle cell melanoma

description: A spindle cell melanoma that involves the optic choroid.


choroid epithelioid cell melanoma

description: A epithelioid cell melanoma that involves the optic choroid.


choroid necrotic melanoma

description: A choroid melanoma characterized by the presence of tumor cell necrosis.


choroid mixed cell melanoma

description: A mixed cell uveal melanoma that involves the optic choroid.


intermediate cell type choroid melanoma

description: Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


Ankle Injuries

description: Trauma to the ankle joint.


vertebral artery insufficiency

description: A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.


Anal Intraepithelial Neoplasia 2

description: Anal canal or perianal skin intraepithelial neoplasia with moderate dysplasia.


temporal lobe cancer

description: A cancer that involves the temporal lobe.


neoplasm of temporal lobe

description: A neoplasm (disease) that involves the temporal lobe.


name: Metastatic malignant neoplasm to vertebral column

description: The spread of a malignant neoplasm to the spine.  This may be from a primary spinal malignant neoplasm, or from a malignant neoplasm at a distant site.


Metastatic malignant neoplasm to bone

description: Evidence of secondary malignant neoplasm of bone and bone marrow.


name: Prostate Carcinoma Metastatic in the Bone

description: A carcinoma that arises from the prostate gland and has spread to the bone.


Breast Carcinoma Metastatic in the Bone

description: A carcinoma that arises from the breast and has metastasized to the bone.


name: Breast Carcinoma Metastatic in the Spine

description: A carcinoma that arises from the breast and has spread to the spine.


name: Plasma Cell Myeloma-Induced Bone Disease

description: Bone infiltration by malignant plasma cells in patients with history of plasma cell myeloma. Bone involvement occurs in approximately eighty percent of newly diagnosed symptomatic plasma cell myeloma patients. The axial skeleton, particularly the spine, and the proximal long bones are the most commonly affected bone sites. It results in osteolytic bone lesions, widespread osteopenia, and compression fractures.


Lung Carcinoma Metastatic in the Bone

description: A carcinoma that arises from the lung and has metastasized to the bone.


syndromic disease

description: A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.


Cobb's syndrome

description: A rare congenital but non-hereditary disorder characterized by angiomas or arteriovenous malformations of the spinal cord. Clinical signs include sudden onset of radicular pain localizable to a dermatome with overlying cutaneous vascular lesions. Untreated, the clinical course follows a progression of sensory loss, weakness to paralysis and incontinence. However, clinical prognosis improves with endovascular embolization and/or surgical excision of the spinal lesion.


piriformis syndrome

description: A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.


name: Ectopic Chorionic Gonadotropin Secretion Syndrome

description: A syndrome characterized by abnormal secretion of chorionic gonadotropin in conjunction with neoplastic growth occurring anywhere in the body.


name: Combined Immunodeficiencies Associated with Syndromic Features

description: A group of genetic immunodeficiency syndromes with unique clinical features and well-characterized underlying immune defects, comprised of: CID with congenital thrombocytopenia; CID due to DNA repair defects other than forms of SCID in category I; CID due to thymic defects with additional congenital anomalies; CID with immunoosseous dysplasias; Hyper-IgE syndromes (HIES); CID due to defects of vitamin B12 and folate metabolism; Anhidrotic ectodermal dysplasia with immunodeficiency; CID due to calcium channel defects; and various other CID with unique clinical phenotypes.


Microscopic enteritis

description: Diagnosis of celiac disease at a later age despite an asymptomatic clinical course. Serologic evidence with minimal histological changes in the intestinal mucosa are noted. The presence of human tissue transglutaminase, endomysial and gliadin antibodies without substantial villous changes follow many years of a seemingly gluten-tolerant diet. Despite an unremarkable clinical course, continued unrestricted gluten intake may predispose to the same sequelae as overt disease.


childhood myelodysplastic syndrome

description: An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.


Insulin resistance syndrome

description: A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome.


name: Congenital Bone Marrow Failure Syndromes

description: A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome.


name: Myelodysplastic Syndrome with Monoallelic TP53 Mutation

description: Myelodysplastic syndrome characterized by the presence of monoallelic TP53 gene mutation.


stiff-person syndrome

description: Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.


cytokine release syndrome

description: A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening.


vertebrobasilar insufficiency

description: Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated.


name: Familial Atypical Hemolytic Uremic Syndrome

description: Hemolytic uremic syndrome associated with an inherited defect, but which is not associated with shiga toxin-producing enterobacteria.


name: Severe Combined Immunodeficiency with Absence of T, B, and NK Cells

description: A severe combined immunodeficiency disorder that is associated with a lack of T, B, and NK cells.


isotretinoin syndrome

description: Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.


name: Interferon Regulatory Factor 8 Deficiency

description: A genetic condition caused by mutation(s) in the IRF8 gene encoding interferon regulatory factor 8. Autosomal dominant (Immunodeficiency 32A) and autosomal recessive (Immunodeficiency 32B) genetic alterations result in different phenotypes, both of which have impairment of function in dendritic cells.


immunoglobulin heavy chain deficiency

description: A disorder that affects the production of complete immunoglobulins. Deletions in the heavy chain genes on chromosome 14 disrupt the synthesis and secretion of properly functioning antibodies resulting in monoclonal populations of truncated heavy chains without covalently bonded light chains. Such deletions have been implicated as playing a significant role in several diseases including leukemias, lymphomas and myelomas.


name: Myelodysplastic Syndrome with Genetic Abnormalities

description: Myelodysplastic syndrome characterized by the presence of defining genetic abnormalities.


diencephalic syndrome

description: Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.


name: Mental Retardation, Autosomal Dominant 18

description: An autosomal dominant neurodevelopmental syndrome caused by mutation(s) in the GATAD2B gene, encoding transcriptional repressor p66-beta. It is characterized by global developmental delay and intellectual impairment.


complete trisomy 18

description: Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism.


hand-foot syndrome

description: A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents.


AESOP Syndrome

description: An exceedingly rare syndrome characterized by adenopathy and a red-to-brown skin patch overlying a plasmacytoma.


Postnatal Drug Withdrawal

description: Withdrawal signs and symptoms that present during the postnatal period and are caused by drug use by the pregnant mother.


Inherited Osteolysis Syndrome

description: A genetically heterogenous group of disorders characterized by loss of bone tissue.


STXBP2 Deficiency

description: A condition of decreased or absent presence of syntaxin-binding protein 2. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis type 5.


autoinflammatory syndrome

description: A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.


name: Myelodysplastic syndrome with low blasts (disorder)

description: Myelodysplastic syndrome characterized by the presence of less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood.


Felty syndrome

description: Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.


PFAPA syndrome

description: An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.


description: A myelodysplastic syndrome resulting from chemotherapy or radiation therapy for cancer.


chromosome 18p deletion syndrome

description: Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.


name: hereditary benign intraepithelial dyskeratosis

description: A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.


description: Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas).


Endogenous Cushing Syndrome

description: Cushing syndrome that is caused by excessive production of cortisol by the adrenal gland.


euthyroid sick syndrome

description: Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.


name: Autoimmune Lymphoproliferative Syndrome with Germline FADD Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of germline FADD mutation.


name: Myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia

description: Myelodysplastic syndrome characterized by mutation of SF3B1 gene. There is bone marrow dysplasia typically in one or more hematopoietic cell lineages. There are less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood.


thalidomide embryopathy

description: A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.


cauda equina syndrome

description: Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery.


tarsal tunnel syndrome

description: Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.


name: Bilateral Diffuse Uveal Melanocytic Hyperplasia

description: A paraneoplastic syndrome characterized by diffuse proliferation of benign melanocytes in the uvea, in patients with an underlying extraocular malignancy. (WHO 2018)


Activated PI3K Delta Syndrome

description: A rare, autosomal dominant inherited primary immunodeficiency disorder caused by mutations in either PIK3CD gene or PIK3R1 gene. Clinical manifestations include the following: recurrent respiratory tract infections; non-malignant lymphoproliferation that results in generalized lymphadenopathy and hepatosplenomegaly; chronic infections with Epstein-Barr virus, cytomegalovirus, and herpes simplex virus; cytopenia; and glomerulonephritis. Patients are at an increased risk of developing non-Hodgkin or Hodgkin lymphoma.


neoplastic syndrome

description: A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.


name: Autoimmune Lymphoproliferative Syndrome with Other Specified FAS Pathway Germline Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of FAS pathway germline mutations in the FASLG, CASP10, CASP8, and FADD genes.


Multiple endocrine neoplasia Type 2

description: Multiple endocrine neoplasia caused by mutation of the RET gene. It includes the following neoplastic processes: multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and hereditary thyroid gland medullary carcinoma.


47,XYY syndrome

description: 47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.


TERC Deficiency

description: A condition of decreased or absent presence of telomerase RNA component. Deficiency of telomerase RNA component is associated with autosomal dominant dyskeratosis congenita 1, telomere-related pulmonary fibrosis, and bone marrow failure 2.


Organic mood disorder

description: A mental disorder caused by intrinsic disease which is characterized by persistent alterations in mood that are directly attributable to the disease itself rather than a response to knowledge of the disease or other co-morbidity. It may be broadly classified as a depressive or bipolar disorder due to a general medical condition.


BAP1 tumor predisposition syndrome

description: A syndrome caused by germline mutations in the BAP1 gene. It is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations have an increased risk of developing various tumor types, most commonly BAP1-inactivated nevi/melanocytomas of the skin, uveal and cutaneous melanomas, peritoneal and pleural mesotheliomas, clear cell renal cell carcinoma, and basal cell carcinoma. (WHO 2018)


Tolosa-Hunt syndrome

description: Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredictable course with spontaneous remission occurring in some and recurrence of attacks in others.


name: Alkylating Agent-Related Myelodysplastic Syndrome

description: A disorder seen following cancer chemotherapy. It is the most common cause of therapy-related myelodysplastic syndromes. It typically manifests several years after initiation of single or multi-agent chemotherapy with alkylators. Mutagenic potential of alkylating agents is believed to be age and cumulative dose-dependent. Deletions in chromosomes 5 and 7 are associated with susceptibility to this disorder. Clinical signs may include fatigue, dyspnea, bruising and frequent infections. Clinical course may progress to bone marrow failure or acute myeloid leukemia that is refractory to treatment. Prognosis is dismal with survivability usually less than one year.


name: Immunodeficiencies Affecting Cellular and Humoral Immunity - Combined Immune Deficiency

description: A group of immunodeficiency disorders that include combined immunodeficiencies (CIDs) generally less profound than SCID.


Turcot Syndrome Type 2

description: An autosomal dominant hereditary neoplastic syndrome caused by mutations in the APC gene. It is characterized by the presence of medulloblastoma and familiar adenomatous polyposis.


name: Myelodysplastic Syndrome with TP53 Inactivation

description: Myelodysplastic syndrome characterized by the presence of TP53 gene inactivating alterations. They include monoallelic or biallelic TP53 gene mutations or one TP53 gene mutation and concurrent copy loss of TP53.


name: SAMD9-Associated Hereditary Myelodysplastic Syndrome

description: A familial myelodysplastic syndrome caused by inherited mutations in the SAMD9 gene.


Refractory Neutropenia

description: A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic neutrophils in the bone marrow or the peripheral blood.


subclavian steal syndrome

description: An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention.


Plummer-Vinson syndrome

description: Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.


Somnolence syndrome

description: An uncommon subacute encephalopathy seen following cranial irradiation for cerebral neoplasms. Clinical signs manifest several weeks after treatment and include drowsiness, fatigue, lethargy and slowed mental processing. Clinical course is usually benign, self-limited and independent of radiotherapy dose.


name: Myelodysplastic Syndrome/Acute Myeloid Leukemia, Not Otherwise Specified

description: Myelodysplastic syndrome/acute myeloid leukemia in which there is no information on myelodysplasia-related gene mutations and cytogenetic abnormalities.


name: Myelodysplastic Syndrome with Biallelic TP53 Mutation

description: Myelodysplastic syndrome characterized by the presence of biallelic TP53 gene mutations. It is associated with a poor prognosis.


name: Iatrogenic Contrasexual Pubertal Development

description: Contrasexual pubertal development caused by medical intervention.


Atypical Hemolytic Uremic Syndrome-4

description: An autosomal dominant subtype of atypical hemolytic uremic syndrome caused by mutation(s) in the CFB gene, encoding complement factor B.


Overlap syndrome

description: An autoimmune, connective tissue disorder in which the patient exhibits features from two or more diseases. These typically include systemic sclerosis, dermatomyositis, polymyositis, rheumatoid arthritis, systemic lupus erythematosus, and Sjogren syndrome; in pediatrics the respective pediatric entities are encountered.


Iatrogenic Cushing's disease

description: Cushing syndrome as a result of increased glucocorticoids due to medical therapy.


name: Childhood Myelodysplastic Syndrome with Low Blasts, Hypocellular

description: Childhood myelodysplastic syndrome with low blasts that is characterized by bone marrow hypocellularity.


cat-eye syndrome

description: Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.


Retroperitoneal Pain Syndrome

description: A pain syndrome characterized by epigastric and mid-back pain, typically experienced as a dull or aching pain. Frequent causes include pancreatic cancer and retroperitoneal lymphadenopathy.


Adult Myelodysplastic Syndrome

description: Myelodysplastic syndrome that occurs in adulthood.


arakawa syndrome 2

description: A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.


ring chromosome 20

description: Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.


name: cardiac, facial, and digital anomalies with developmental delay

description: An autosomal dominant condition caused by mutation(s) in the TRAF7 gene, encoding E3 ubiquitin-protein ligase TRAF7. It is characterized by developmental delay, cardiac, facial, and digital anomalies.


Froelich syndrome

description: Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today.


cardio-renal syndrome

description: A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ.


Ectopic renin secretion

description: A syndrome characterized by abnormal secretion of renin in conjunction with neoplastic growth occurring anywhere in the body.


name: drug rash with eosinophilia and systemic symptoms

description: DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6.


Recurrent Neurofibromatosis Type 1

description: The reemergence of neurofibromatosis type 1 after a period of remission.


Miller Fisher syndrome

description: An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia.


Brown-Sequard syndrome

description: Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause.


MAFA Related Familial Insulinomatosis

description: An autosomal dominant neoplastic syndrome caused by MAFA (MAF bZIP Transcription Factor A) gene mutations. It is characterized by the development of multiple insulin secreting pancreatic neuroendocrine tumors.


Sunset Syndrome

description: Decentration, or malposition of intraocular lens; zonular dehiscence or lens malposition caused by zonular or parsplana fixation.


name: monoclonal mast cell activation syndrome

description: Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected.


name: Myelodysplastic Syndrome with Somatic Mutation

description: Myelodysplastic syndrome characterized by the presence of somatic mutations.


Nicotine withdrawal

description: A condition which occurs following suspension of nicotine use. Clinical features may include nicotine craving, irritability, anxiety, depression and increased appetite. The onset of symptoms may be rapid with severity proportional to length and amount of nicotine use. Unsuccessful management of symptoms may prompt a return to nicotine use.


Type I Refractory Celiac Disease

description: Refractory celiac disease associated with normal intraepithelial lymphocyte phenotype.


Recurrent Cushing Disease

description: The reemergence of Cushing disease after a period of remission.


name: monosomy 7 myelodysplasia and leukemia syndrome 1

description: An inherited condition caused by autosomal dominant mutation(s) in the SAMD9L gene, encoding sterile alpha motif domain-containing protein 9-like. The condition is characterized by an increased risk of developing myelodysplastic syndrome and acute myelogenous leukemia.


shone complex

description: A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis.


name: myalgic encephalomeyelitis/chronic fatigue syndrome

description: A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities.


Ectopic aldosterone secretion

description: A syndrome characterized by abnormal secretion of aldosterone in conjunction with neoplastic growth occurring anywhere in the body.


48,XXXY syndrome

description: The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.


Recurrent Endogenous Cushing Syndrome

description: The reemergence of endogenous Cushing syndrome after a period of remission.


growth hormone insensitivity syndrome

description: Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.


CYLD Cutaneous Syndrome

description: The development of multiple skin tumors including cylindromas, spiradenomas, trichoepitheliomas, and rarely, basal cell adenoma of the salivary gland. It usually manifests in the second or third decade. The tumors typically arise from the scalp and face but can also arise from the torso and sun-protected sites. It is caused by germline mutations of the tumor suppressor gene CYLD.


name: Autoimmune Lymphoproliferative Syndrome with Somatic FAS Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of somatic FAS mutation.


anterior spinal artery syndrome

description: Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)


name: IL-7R-Alpha-deficient Severe Combined Immunodeficiency

description: An autosomal recessive form of severe combined immunodeficiency characterized as T-cell negative, B-cell positive, NK cell positive, and with mutations in the gene encoding interleukin-7 receptor alpha chain protein. This class of SCID accounts for approximately 10% of all SCID cases.


name: SAMD9L-Associated Hereditary Myelodysplastic Syndrome

description: A familial myelodysplastic syndrome caused by inherited mutations in the SAMD9L gene.


C4 Deficiency

description: Lack of production of functional C4 protein, due to a genetic defect requiring homozygous loss of both the C4A and C4B genetic paralogs. Approximately 75% of patients with a C4 deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.


name: Severe Combined Immunodeficiency due to RAG1 Deficiency

description: An inherited condition caused by mutation(s) in the RAG1 gene, encoding V(D)J recombination-activating protein 1. It is characterized by severe combined immunodeficiency that is both T-cell and B-cell negative.


46,XY Disorder of Androgen Action

description: Conditions in 46,XY individuals in which androgens are produced in typical amounts, but tissue response to androgens is reduced.


name: Childhood Myelodysplastic Syndrome with Low Blasts

description: Myelodysplastic syndrome that occurs in childhood and is characterized by cytopenia and the presence of less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood.


telomere syndrome

description: Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.


neurocutaneous syndrome

description: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.


Acquired Feminization

description: The development of secondary female sex characteristics in males due to extrinsic factors.


Ectopic calcitonin production

description: A syndrome characterized by abnormal secretion of calcitonin in conjunction with neoplastic growth occurring anywhere in the body.


paraneoplastic polyneuropathy

description: A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure.


sweet syndrome

description: Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.


Postpericardiotomy Syndrome

description: An inflammatory disorder of the pericardium and pleura seen as a post-operative complication of cardiovascular surgery.


description: A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues.


Neonatal Opiate Withdrawal Syndrome

description: A constellation of neurobehavioral features observed in a neonate following cessation or reduction of postnatal exposure to opioids.


ring chromosome 14

description: Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.


name: GATA2 deficiency with susceptibility to MDS/AML

description: A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]).


Multiple Familial Trichoepithelioma

description: A rare autosomal dominant inherited disorder associated with mutation of the CYLD tumor suppressor gene. It is characterized by the development of multiple trichoepitheliomas in the central face and sometimes on the scalp, neck, or trunk.


Immunodeficiency of Unknown Origin

description: A condition of compromised immune function resulting from an uncharacterized defect.


name: acquired monoclonal Ig light chain-associated Fanconi syndrome

description: A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.


Endocrine Syndrome

description: A group of signs, symptoms, and clinicopathological characteristics that result from the pathologic function of one or more endocrine organs.


orofacial cleft 1

description: Cleft lip with or without cleft palate mapped to chromosome 6p24.


Organic delusional disorder

description: A mental disorder caused by intrinsic disease which is characterized by persistent or recurrent irrational beliefs. Consciousness and memory are not affected. It may be broadly classified as a psychotic disorder due to a general medical condition.


description: A hereditary cancer syndrome characterized by the development of multiple paragangliomas including pheochromocytomas. It is caused by mutations in SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes.


X-linked Ehlers-Danlos syndrome

description: Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.


name: acute inflammatory demyelinating polyradiculoneuropathy

description: An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS).


Ectopic Parathormone Secretion Syndrome

description: A syndrome characterized by abnormal secretion of parathyroid hormone in conjunction with neoplastic growth occurring anywhere in the body.


Capgras syndrome

description: A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all.


Autosomal recessive agammaglobulinemia

description: A genetically heterogenous group of primary immunodeficiencies characterized by low or absent circulating antibodies/or and low or absent B-cells.


Rhabdoid tumor predisposition syndrome

description: An autosomal dominant-inherited neoplastic predisposition syndrome caused by mutation(s) in the SMARCB1 or SMARCA4 genes. It is characterized by the development of atypical teratoid/rhabdoid tumors in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.


ring chromosome 22

description: Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.


Organic personality disorder

description: A mental disorder caused by intrinsic disease which is characterized by persistent alteration of a known behavioral pattern. Changes in emotional stability, motivation, judgment or impulse control are usually noted. It is broadly classified as a personality change due to a general medical condition.


selective IgE deficiency disease

description: A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases.


In Utero Drug Withdrawal

description: Drug withdrawal symptoms in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence.


description: Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.


name: ectopic hormone secretion syndrome associated with neoplasia

description: Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body.


diethylstilbestrol syndrome

description: Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage.


selective IgM deficiency

description: Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement.


Congenital Disorder of Natural Immunity

description: A broad classification of inherited disorders presenting at birth that affect the initial immunologic response to infection. In these disorders, the primary role of innate immunity to detect and neutralize pathogens which the individual has not been previously exposed is decreased or ineffective.


name: type 3 autoimmune lymphoproliferative syndrome

description: A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.


Melkersson-Rosenthal syndrome

description: The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected.


Multiple Endocrine Neoplasia Type 5

description: An inherited neoplastic syndrome caused by mutations in the MYC-associated factor X (MAX) gene. It is associated with the development of paragangliomas/pheochromocytomas, pituitary neuroendocrine tumors, and parathyroid adenomas. Renal cell carcinomas, squamous cell carcinomas, breast carcinomas, lung carcinomas, and endometrial carcinomas have also been reported.


name: myelodysplastic syndrome with multilineage dysplasia

description: Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages.


Meigs syndrome

description: A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass.


basilar artery insufficiency

description: A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function.


Perforin Deficiency

description: A condition of decreased or absent presence of perforin. Deficiency of this protein is associated with T-cell lymphoblastic lymphoma, aplastic anemia, hemophagocytic lymphohistiocytosis familial type 2, autoimmune lymphoproliferative syndrome and other lymphoproliferative disorders, including various forms of lymphoma.


Neonatal Drug Withdrawal

description: A constellation of neurobehavioral features observed following cessation or reduction of antenatal or postnatal drug exposure.


Uveitis-glaucoma-hyphema syndrome

description: Clinical triad of uveitis, glaucoma, and hyphema (UGH), especially associated with the early anterior chamber intraocular lens (IOL). Glaucoma is believed to be caused by movement of the IOL against the iris causing release of inflammatory and red blood cell debris, which obstruct the trabecular meshwork. The haptic also may cause direct damage to the trabecular meshwork contributing to the glaucoma. Incidence of UGH is dependent on both surgical methodology applied in the cataract population and type of IOL used. UGH is particularly common if metal clip lenses have been used. Components of the condition may be reversed if the offending IOL is removed before permanent damage has occurred.


name: Myelodysplastic Syndrome with Excess Blasts and Fibrosis

description: Myelodysplastic syndrome with excess blasts associated with significant reticulin fibrosis of the bone marrow.


PIK3CA related overgrowth spectrum

description: A group of rare disorders that are usually caused by somatic mutations in the PIK3CA gene, but may rarely be caused by de novo germline mutations. These disorders are typically characterized by sporadic overgrowth of parts of the body, intellectual disability, low muscle tone, and vascular malformations with congenital or early childhood onset. Representative examples include: fibroadipose hyperplasia, CLOVES syndrome, megalencephaly-capillary malformation syndrome, hemihyperplasia-multiple lipomatosis syndrome, hemimegalencephaly, and facial infiltrating lipomatosis.


ring chromosome 21

description: Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals.


Hereditary Myelodysplastic Syndrome

description: Myelodysplastic syndrome caused by inherited damaging mutations in cancer susceptibility genes.


name: Myelodysplastic Syndrome/Acute Myeloid Leukemia with Mutated TP53

description: Myelodysplastic syndrome/acute myeloid leukemia characterized by the presence of TP53 gene mutations. There are 10%-19% blasts in bone marrow or peripheral blood.


adult Fanconi syndrome

description: Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.


name: Robertsonian translocation Down syndrome

description: Chromosomal disorder in which (part or full) chromosome 21 is attached to another chromosome, resulting in the presence of a third copy of part of full chromosome 21 genetic material. A Robertsonian translocation is a structural chromosomal anomaly in which two acrocentric chromosomes break, resulting in the fusion of the nonhomologous chromosomes’ long arms to form a single, large chromosome.


Primary Sjögren's syndrome

description: Sjogren syndrome without a concomitant systemic autoimmune disorder.


Ectopic growth hormone secretion

description: A syndrome characterized by abnormal secretion of growth hormone in conjunction with neoplastic growth occurring anywhere in the body.


ring chromosome 18

description: Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.


name: Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome

description: A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.


Susac syndrome

description: Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear.


Activated PI3K-Delta Syndrome 1

description: A rare, autosomal dominant inherited primary immunodeficiency disorder caused by mutations in PIK3CD gene. Clinical manifestations include the following: recurrent respiratory tract infections; non-malignant lymphoproliferation that results in generalized lymphadenopathy and hepatosplenomegaly; chronic infections with Epstein-Barr virus, cytomegalovirus, and herpes simplex virus; cytopenia; and glomerulonephritis. Patients are at an increased risk of developing non-Hodgkin or Hodgkin lymphoma.


name: Severe Combined Immunodeficiency due to CD45 Deficiency

description: An autosomal recessive condition caused by mutation(s) in the PTPRC (CD45) gene, encoding receptor-type tyrosine-protein phosphatase C. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell positive, and NK cell positive.


primary Fanconi syndrome

description: A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.


name: COVID-19-Associated Acute Respiratory Distress Syndrome

description: Acute respiratory distress syndrome caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).


name: Polymerase Proofreading Associated Polyposis

description: An autosomal dominant condition caused by mutation(s) in the POLE and/or POLD1 genes, encoding DNA polymerase epsilon catalytic subunit A and DNA polymerase delta catalytic subunit, respectively. It is characterized by colorectal polyposis and a predisposition to colorectal cancer. Mutation(s) in POLE and/or POLD1 genes have been associated with an increased risk of endometrial cancer, breast and brain tumors, and multi-tumor phenotypes.


Poland syndrome

description: Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.


Ectopic prolactin secretion

description: A syndrome characterized by abnormal secretion of prolactin in conjunction with neoplastic growth occurring anywhere in the body.


name: Myelodysplastic neoplasm with biallelic TP53 inactivation

description: Myelodysplastic syndrome characterized by the presence of biallelic TP53 inactivating alterations. They include biallelic TP53 gene mutations or one TP53 gene mutation and concurrent copy loss of TP53. There are less than 20% blasts in bone marrow and peripheral blood. It is associated with a poor prognosis.


description: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the TARS1 gene, encoding threonine-tRNA ligase 1, cytoplasmic.


name: rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

description: A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin.


schwannomatosis 2

description: Schwannomatosis caused by germline mutations in the LZTR1 gene.


distal monosomy 10p

description: Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.


pentasomy X

description: Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).


Hereditary Colorectal Cancer Syndrome

description: A group of hereditary neoplastic syndromes that affect the colon and rectum. Included in this grouping are hereditary nonpolyposis colorectal cancer (HNPCCC) , familial adenomatous polyposis (FAP), and the hamartomatous polyposis syndromes.


Complete Trisomy 21 Syndrome

description: A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease.


name: Severe Combined Immunodeficiency due to RAG Deficiency

description: A rare severe combined immunodeficiency disorder caused by null mutations in recombination activating gene (RAG) 1 or RAG2. It is associated with a lack of T and B cells.


name: Postural Orthostatic Tachycardia Syndrome Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Postural orthostatic tachycardia syndrome (POTS) that started during probable or confirmed acute COVID-19 and persisted at least three months after the initial diagnosis of COVID-19.


name: temporomandibular joint dysfunction syndrome

description: A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disk and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management.


paraneoplastic limbic encephalitis

description: A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia.


Barre-Lieou syndrome

description: A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo.


name: Constitutional Mismatch Repair Deficiency Syndrome

description: A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.


Refractory Myelodysplastic Syndrome

description: Myelodysplastic syndrome that does not respond to treatment.


Familial Cylindromatosis

description: A rare autosomal dominant inherited disorder associated with mutation of the CYLD tumor suppressor gene. It is characterized by the development of multiple cylindromas, usually in the skin of the scalp.


Alice in Wonderland syndrome

description: A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities.


name: spondyloepimetaphyseal dysplasia, sponastrime type

description: A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.


name: Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas

description: Progressive, symptomatic neurofibromatosis type 1 associated with plexiform neurofibromas that cannot be removed surgically without risk of substantial morbidity.


Neoplastic Syndromes, Hereditary

description: An inherited genetic condition in which members within a family are at an increased risk for the development of benign and/or malignant neoplasms.


Aicardi syndrome

description: Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.


selective IgD deficiency disease

description: A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection.


Neutrophil Actin Defect

description: A genetic disorder characterized by defective polymorphonuclear cell actin function, resulting in impaired granulocyte motility.


Leaky Severe Combined Immunodeficiency

description: A form of severe combined immunodeficiency (SCID) that presents with T-cell counts that are higher than typical for SCID, and variable signs and symptoms including: itchy, erythematous skin, alopecia, hepatosplenomegaly, lymphadenopathy, anemia, thyroid dysfunction and diarrhea. T-cell counts may initially be noted to be within normal ranges since some may "leak" through into the peripheral blood affecting proper measurement.


48,XXYY syndrome

description: The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.


name: acute motor and sensory axonal neuropathy

description: Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-Barre syndrome (GBS).


name: Lymphocytic Variant Hypereosinophilic Syndrome

description: A hypereosinophilic syndrome characterized by the presence of a clonal T-cell population. Patients present with cutaneous findings including eczematous dermatitis, nodules, papules, and pruritis, rheumatological symptoms, gastrointestinal symptoms, and lymphadenopathy. Lymph node biopsies show eosinophilia, atypical lymphocytes, clonally rearranged T-cells, and architectural distortion. Skin biopsies may also show the clonally rearranged T-cell population.


congenital varicella syndrome

description: Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.


Achenbach syndrome

description: A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days.


name: Severe Combined Immunodeficiency due to RAG2 Deficiency

description: An autosomal recessive condition caused by mutation(s) in the RAG2 gene, encoding V(D)J recombination-activating protein 2. It is characterized by severe combined immunodeficiency that is both T-cell and B-cell negative.


Hypoplastic myelodysplastic syndrome

description: Myelodysplastic syndrome characterized by decreased cellularity in the bone marrow.


name: Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Cytogenetic Abnormalities

description: Myelodysplastic syndromes/acute myeloid leukemias classified based on specific karyotype findings.


tetrasomy 12p

description: Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.


name: Congenital iodine deficiency syndrome of neurological type

description: Congenital iodine deficiency syndrome associated with mental retardation, deaf-mutism, and abnormal gait. It results from severe maternal iodine deficiency and hypothyroidism during pregnancy.


name: Selective Antibody Deficiency with Normal Immunoglobulins

description: A rare syndrome characterized by deficiency of specific antibodies to polysaccharide antigens while the specific antibodies to protein antigens are normal.


Perinatal Drug Withdrawal

description: Withdrawal signs and symptoms that present during the perinatal period and are caused by drug use by the pregnant mother.


Juvenile Primary Fibromyalgia Syndrome

description: Chronic, diffuse, non-inflammatory musculoskeletal pain disorder associated with fatigue and sleep disturbance that can occur in childhood and adolescence. Tender points are not necessary to make the diagnosis, but if present may be less numerous than found in adults.


tumor lysis syndrome

description: A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death.


ELP1-Medulloblastoma Syndrome

description: An autosomal dominant syndrome caused by germline ELP1 gene variations and characterized by an increased risk of developing SHH-activated, TP53-wildtype medulloblastoma during childhood.


VISS syndrome

description: An autosomal recessive condition caused by mutation(s) in the IPO8 gene, encoding importin-8. It is a generalized connective tissue disorder resulting in skin laxity, vascular aneurysms, immune dysregulation, and skeletal anomalies.


Recurrent Myelodysplastic Syndrome

description: The reemergence of myelodysplastic syndrome after a period of remission.


complex regional pain syndrome type 2

description: Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area.


split hand-foot malformation 5

description: Split-hand/foot malformation mapped to chromosome 2q31.


Contrasexual Sexual Development

description: The development of secondary sexual characteristics contrary to pre-pubertal phenotype (feminization in boys; virilization in girls).


Secondary Myelodysplastic Syndrome

description: A myelodysplastic syndrome resulting from chemotherapy or radiation therapy for cancer or exposure to certain chemicals.


Secondary Sjögren's syndrome

description: Sjogren syndrome that occurs with another systemic autoimmune disorder, such as systemic lupus erythematosus or rheumatoid arthritis.


T-cell immunodeficiency

description: A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective.


name: Diarrhea-associated hemolytic uremic syndrome

description: Hemolytic uremic syndrome caused by gastrointestinal infection, usually with shiga toxin-producing enterobacteria.


Oncogenic osteomalacia

description: Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed.


triploidy

description: Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.


Opiate Withdrawal Syndrome

description: A syndrome that is defined by signs and symptoms related to abrupt or gradual stoppage of opioids use. They include strong cravings, sweating, nausea, vomiting, irritation, anxiety, muscle pain, dilated pupils and insomnia.


name: Autoimmune Lymphoproliferative Syndrome with Germline FAS Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of germline FAS mutation.


name: Hereditary Tumor Syndrome Associated with Homologous Recombination Pathway Mutations

description: A hereditary neoplastic syndrome characterized by germline mutations of homologous recombination (HR) pathway genes. It is associated with an increased risk of developing various malignancies including breast, ovarian, pancreatic, and prostate carcinoma, and melanoma.


vitamin K-antagonist embryofetopathy

description: A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly.


Xq25 microduplication syndrome

description: An X-linked genetic condition caused by duplication of a small segment of Xq25, which may encompass the GRIA3 and STAG2 genes, encoding glutamate receptor 3 and cohesin subunit SA-2. It is characterized by intellectual disability and distinctive facial dysmorphisms.


name: Myelodysplastic neoplasm of childhood with increased blasts

description: Myelodysplastic syndrome with excess blasts that occurs during childhood.


Adams-Stokes syndrome

description: An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery.


Leriche syndrome

description: An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention.


49,XXXXY syndrome

description: The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.


schwannomatosis 1

description: Schwannomatosis caused by germline mutations in the SMARCB1 gene.


UNC13D Deficiency

description: A condition of decreased or absent presence of protein unc-13 homolog D. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis 3.


name: selective immunoglobulin deficiency disease

description: A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.


Paraneoplastic Opsoclonus Ataxia

description: Ataxia associated with chaotic multidirectional conjugate eye movements secondary to metastatic tumors to cerebellum.  The most common malignant tumor associated with this paraneoplastic syndrome is lung carcinoma. (NCI)


SUNCT syndrome

description: SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing).


paraneoplastic cerebellar degeneration

description: A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus.


name: myelodysplastic syndrome with excess blasts-2

description: A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO)


description: Myoclonic-atonic epilepsy caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1.


name: Severe Combined Immunodeficiency with Absence of T, Normal B Cells

description: An inherited, severe immunodeficiency disorder characterized by abnormalities in the development and function of T cell immunity. The peripheral T lymphocytes are absent or in very low counts. The B lymphocyte counts are normal.


name: Autoimmune Lymphoproliferative Syndrome with Germline CASP8 Mutation

description: Autoimmune lymphoproliferative syndrome characterized by the presence of germline CASP8 mutation.


Ferguson-Smith tumor

description: A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae.


burning mouth syndrome

description: A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth.


name: Immunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency

description: A group of immunodeficiency disorders that include T cell-negative, B cell-positive severe combined immunodeficiencies; and T cell-negative, B cell-negative severe combined immunodeficiencies.


Eisenmenger syndrome

description: Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.


name: Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion

description: A clinico-radiologic syndrome consisting of acute encephalopathy characterized by biphasic seizures and altered consciousness in the acute phase, followed by restricted diffusion in the subcortical white matter on diffusion-weighted magnetic resonance imaging.


name: Severe Combined Immunodeficiency with Absence of T and B Cells

description: An inherited, severe immunodeficiency disorder characterized by abnormalities in the development and function of T and B cell immunity. The peripheral T and B lymphocytes are absent or in very low counts.


Kluver-Bucy syndrome

description: Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms include diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.


polymyositis in scleroderma

description: A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis.


description: Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders.


description: An X-linked dominant condition caused by mutation(s) in the ZC4H2 gene, encoding zinc finger C4H2 domain-containing protein.  It is characterized by neurogenic arthrogryposis resulting from decreased fetal movements. Additional features may include global developmental delay, peripheral neuropathy, and characteristic facies.


overgrowth syndrome

description: A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome.


Predominantly Antibody Deficiencies

description: A group of primary immunodeficiency diseases caused predominantly by antibody deficiencies, comprised of: Agammaglobulinemia with absent B cells; Severe reduction in at least two serum immunoglobulins, common variable immunodeficiency (CVID) phenotype; Severe reduction in serum IgG and IgA with normal or elevated IgM, hyper-IgM; and Isotype, light chain, or functional deficiencies with generally normal numbers of B cells.


Evans syndrome

description: Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.


name: Paraneoplastic Subacute Sensory Neuronopathy

description: A sensory neuropathy caused by the effects of a distant neoplasm (usually a small cell carcinoma). It is usually caused by the production of anti-neuronal autoantibodies: anti-Hu (ANNA-1) or anti-CV2 (CRMP-5), which result in cytotoxic T-cell mediated destruction of dorsal root ganglia. It is the most common clinical presentation of paraneoplastic encephalomyelitis. Clinical signs include asymmetric paresthesia of the face, trunk and proximal extremities followed by lancinating pain, vibrioceptive and proprioceptive impairment, and muted reflexes. Clinical course usually follows a progressive neurologic deterioration which stabilizes at a level of severe, permanent disability.


Type II Refractory Celiac Disease

description: Refractory celiac disease associated with abnormal (clonal) intraepithelial lymphocyte phenotype. It is a precursor of enteropathy-associated T-cell lymphoma.


Refractory Thrombocytopenia

description: A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic megakaryocytes, found within at least 30 megakaryocytes examined in the bone marrow.


name: Myelodysplastic Syndrome, Not Otherwise Specified

description: Myelodysplastic syndrome with low blasts characterized by the absence of defining genetic abnormalities.


Neurofibromatosis aggravated

description: A condition causing exacerbation of the clinical features of neurofibromatosis.


acute motor axonal neuropathy

description: Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-Barre syndrome (GBS).


Denys-Drash Syndrome, Incomplete

description: Condition comprising congenital nephrotic syndrome with associated WT1 gene mutation with either intersex disorder or Wilms tumor.


ring chromosome 13

description: Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.


Turcot Syndrome Type 1

description: An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, or MSH2 genes. It is characterized by the presence of glioblastoma and the absence of familiar adenomatous polyposis. Patients often develop hereditary nonpolyposis colorectal carcinoma.


IFN-gamma Receptor 1 Deficiency

description: A condition of decreased or absent presence or activity of interferon gamma receptor 1. Deficiency of this protein is associated with immunodeficiency 27A and immunodeficiency 27B.


name: anti-glomerular basement membrane disease

description: An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide.


de novo Myelodysplastic Syndrome

description: A primary myelodysplastic syndrome not associated with prior radiation or chemotherapy treatment.


fetal valproate syndrome

description: Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).


name: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL

description: An inherited condition caused by autosomal dominant mutation(s) in the KIT or PDGFRA genes, encoding mast/stem cell growth factor receptor Kit and platelet derived growth factor receptor alpha respectively. The condition is characterized by the occurrence of multiple gastrointestinal stromal tumors (GIST).


Parana hard-skin syndrome

description: A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.


tempi syndrome

description: TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.


name: Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations

description: Myelodysplastic syndromes/acute myeloid leukemias characterized by the presence of gene mutations that are associated with myelodysplasia.


name: CDH1-Associated Breast Carcinoma Syndrome

description: A cancer susceptibility syndrome caused by inactivating germline mutations of the CDH1 gene. It is associated with the development of lobular carcinoma of the breast. Females with mutation of the CDH1 gene have a 40% risk of developing lobular breast carcinoma.


name: severe combined immunodeficiency due to CD70 deficiency

description: A rare primary immunodeficiency caused by homozygous CD70 mutation. It is characterized by susceptibility to Epstein-Barr virus infection, hypogammaglobulinemia, and development of B-cell non-Hodgkin lymphomas and Hodgkin lymphomas.


Reye syndrome

description: An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use.


transient hypogammaglobulinemia

description: A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels.


name: Childhood Myelodysplastic Syndrome with Low Blasts, Not Otherwise Specified

description: Childhood myelodysplastic syndrome with low blasts in which further characterization is not available.


Vertiginous syndrome

description: A group of disorders characterized by the sensation of constant motion or spinning despite not moving.


Sandifer syndrome

description: Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.