name: positive regulation of cysteine metabolic process

description: Any process that activates or increases the frequency, rate or extent of cysteine metabolic process.


name: positive regulation of butyryl-CoA biosynthetic process from acetyl-CoA

category: biolink:BiologicalProcess biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: Any process that activates or increases the frequency, rate or extent of butyryl-CoA biosynthetic process from acetyl-CoA.


name: negative regulation of naphtho-gamma-pyrone biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of naphtho-gamma-pyrone biosynthetic process.


name: regulation of endocrocin biosynthetic process

description: Any process that modulates the frequency, rate or extent of endocrocin biosynthetic process.


name: regulation of ubiquinone biosynthetic process

description: Any process that modulates the frequency, rate or extent of ubiquinone biosynthesis. Ubiquinone biosynthesis consists of the chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme.


name: negative regulation of testosterone biosynthetic process

description: Any process that stops, prevents, or reduces the frequency, rate or extent of testosterone biosynthetic process.


name: negative regulation of selenocysteine metabolic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of selenocysteine metabolic process.


name: negative regulation of tensidol B biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of tensidol B biosynthetic process.


name: regulation of isopentenyl diphosphate biosynthetic process, methylerythritol 4-phosphate pathway

description: Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of isopentenyl diphosphate produced via the methylerythritol (MEP) pathway (mevalonate-independent).


name: regulation of F-9775B biosynthetic process

description: Any process that modulates the frequency, rate or extent of F-9775B biosynthetic process.


name: negative regulation of histidine biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of histidine biosynthetic process.


name: negative regulation of initiation of acetate catabolic process by acetate

description: Any process that stops or prevents the activation, by acetate, of the chemical reactions and pathways resulting in the breakdown of acetate.


name: negative regulation of indoleacetic acid biosynthetic process via tryptophan

description: Any process that stops, prevents or reduces the frequency, rate or extent of indoleacetic acid biosynthetic process via tryptophan.


name: positive regulation of tryptophan metabolic process

description: Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid.


name: regulation of lysine biosynthetic process via aminoadipic acid

description: Any process that modulates the frequency, rate or extent of lysine biosynthetic process via aminoadipic acid.


name: negative regulation of penicillin biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of penicillin biosynthetic process.


name: negative regulation of ammonia assimilation cycle

description: Any process that stops, prevents or reduces the frequency, rate or extent of ammonia assimilation cycle.


name: negative regulation of glutamate metabolic process

description: Any process that stops, prevents, or reduces the frequency, rate or extent of glutamate metabolic process.


name: positive regulation of abscisic acid biosynthetic process

description: Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of abscisic acid.


name: positive regulation of ubiquinone biosynthetic process

description: Any process that activates or increases the frequency, rate or extent of ubiquinone biosynthetic process.


name: negative regulation of methane biosynthetic process from 3-(methylthio)propionic acid

description: Any process that stops, prevents or reduces the frequency, rate or extent of methane biosynthetic process from 3-(methylthio)propionic acid.


regulation of glyoxylate cycle

description: Any process that modulates the frequency, rate or extent of glyoxylate cycle.


name: positive regulation of progesterone biosynthetic process

description: Any process that activates or increases the frequency, rate or extent of progesterone biosynthetic process.


name: regulation of penicillin biosynthetic process

description: Any process that modulates the frequency, rate or extent of penicillin biosynthetic process.


name: regulation of methane biosynthetic process from 3-(methylthio)propionic acid

description: Any process that modulates the frequency, rate or extent of methane biosynthetic process from 3-(methylthio)propionic acid.


regulation of acetate catabolic process

description: Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of acetate, the anion of acetic acid.


name: negative regulation of amino acid biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of an amino acid biosynthetic process.


name: positive regulation of homocysteine metabolic process

description: Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving homocysteine.


name: negative regulation of homoserine biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of homoserine biosynthetic process.


name: positive regulation of fever generation by positive regulation of prostaglandin biosynthesis

description: Any process that increases the rate or extent of fever generation via positive regulation of the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of prostaglandin.


name: regulation of homoserine biosynthetic process

description: Any process that modulates the frequency, rate or extent of homoserine biosynthetic process.


name: positive regulation of ecdysteroid metabolic process

description: Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving ecdysteroids.


name: positive regulation of acetate catabolic process

description: Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of acetate.


name: negative regulation of gerfelin biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of gerfelin biosynthetic process.


name: positive regulation of tetrapyrrole biosynthetic process from glycine and succinyl-CoA

description: Any process that activates or increases the frequency, rate or extent of tetrapyrrole biosynthetic process from glycine and succinyl-CoA.


name: negative regulation of ecdysteroid metabolic process

description: Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving ecdysteroids.


name: regulation of fumonisin biosynthetic process

description: Any process that modulates the frequency, rate or extent of fumonisin biosynthetic process.


name: positive regulation of proline catabolic process to glutamate

description: Any process that activates or increases the frequency, rate or extent of proline catabolic process to glutamate.


name: regulation of penicillin catabolic process

description: Any process that modulates the frequency, rate or extent of the chemical reactions and pathways leading to the breakdown of any antibiotic that contains the condensed beta-lactamthiazolidine ring system.


name: regulation of gibberellin biosynthetic process

description: Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of gibberellins.


name: negative regulation of emericellin biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of emericellin biosynthetic process.


positive regulation of glyoxylate cycle

description: Any process that activates or increases the frequency, rate or extent of glyoxylate cycle.


name: regulation of retinoic acid biosynthetic process

description: Any process that modulates the frequency, rate or extent of retinoic acid biosynthetic process.


name: negative regulation of endocrocin biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of endocrocin biosynthetic process.


name: regulation of emericellin biosynthetic process

description: Any process that modulates the frequency, rate or extent of emericellin biosynthetic process.


name: negative regulation of cysteine metabolic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of cysteine metabolic process.


name: positive regulation of cellular glucuronidation

description: Any process that activates or increases the frequency, rate or extent of cellular glucuronidation.


name: regulation of arginine biosynthetic process

description: Any process that modulates the frequency, rate or extent of arginine biosynthetic process.


name: positive regulation of retinoic acid biosynthetic process

description: Any process that activates or increases the frequency, rate or extent of retinoic acid biosynthetic process.


regulation of proline metabolic process

description: Any process that modulates the frequency, rate or extent of proline metabolic process.


name: negative regulation of asperthecin biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of asperthecin biosynthetic process.


name: negative regulation of kojic acid biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of kojic acid biosynthetic process.


name: regulation of tensidol B biosynthetic process

description: Any process that modulates the frequency, rate or extent of tensidol B biosynthetic process.


name: negative regulation of neosartoricin biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of neosartoricin biosynthetic process.


name: positive regulation of proline metabolic process

description: Any process that activates or increases the frequency, rate or extent of proline metabolic process.


name: regulation of fever generation by regulation of prostaglandin biosynthesis

description: Any process that modulates the rate or extent of fever generation via regulation of the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of prostaglandin.


name: negative regulation of arginine catabolic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of arginine catabolic process.


name: regulation of selenocysteine metabolic process

description: Any process that modulates the frequency, rate or extent of selenocysteine metabolic process.


name: positive regulation of gibberellin biosynthetic process

description: Any process that activates, maintains or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of gibberellins.


name: positive regulation of glutamate metabolic process

description: Any process that activates or increases the frequency, rate or extent of glutamate metabolic process.


name: positive regulation of L-dopa biosynthetic process

description: Any process that activates or increases the frequency, rate or extent of L-dopa biosynthetic process.


name: positive regulation of ammonia assimilation cycle

description: Any process that activates or increases the frequency, rate or extent of ammonia assimilation cycle.


name: positive regulation of homoserine biosynthetic process

description: Any process that activates or increases the frequency, rate or extent of homoserine biosynthetic process.


name: positive regulation of arginine biosynthetic process

description: Any process that activates or increases the frequency, rate or extent of arginine biosynthetic process.


name: regulation of methane biosynthetic process from formic acid

description: Any process that modulates the frequency, rate or extent of methane biosynthetic process from formic acid.


initiation of acetate catabolic process

description: The activation of the chemical reactions and pathways resulting in the breakdown of acetate.


name: negative regulation of helvolic acid biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of helvolic acid biosynthetic process.


name: negative regulation of butyryl-CoA catabolic process to butyrate

description: Any process that stops, prevents or reduces the frequency, rate or extent of butyryl-CoA catabolic process to butyrate.


name: regulation of abscisic acid biosynthetic process

description: Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of abscisic acid.


name: regulation of 1-aminocyclopropane-1-carboxylate metabolic process

description: Regulation of the chemical reactions and pathways involving 1-aminocyclopropane-1-carboxylate, the anion of 1-aminocyclopropane-1-carboxylic acid, a natural product found in plant tissues. It is a key intermediate in the biosynthesis of ethylene (ethene), a fruit-ripening hormone in plants.


name: positive regulation of selenocysteine metabolic process

description: Any process that activates or increases the frequency, rate or extent of selenocysteine metabolic process.


name: negative regulation of polyketide biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of polyketide biosynthetic process.


name: negative regulation of L-dopa biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of L-dopa biosynthetic process.


name: regulation of androst-4-ene-3,17-dione biosynthetic process

description: Any process that modulates the frequency, rate or extent of androst-4-ene-3,17-dione biosynthetic process.


name: positive regulation of lysine biosynthetic process via alpha-aminoadipate and saccharopine

description: Any process that activates or increases the frequency, rate or extent of lysine biosynthetic process via alpha-aminoadipate and saccharopine.


name: regulation of ammonia assimilation cycle

description: Any process that modulates the frequency, rate or extent of ammonia assimilation cycle.


name: regulation of tetrapyrrole biosynthetic process from glutamate

description: Any process that modulates the frequency, rate or extent of tetrapyrrole biosynthetic process from glutamate.


name: regulation of ecdysteroid biosynthetic process

description: Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of ecdysteroids.


name: positive regulation of gamma-aminobutyric acid catabolic process

description: Any process that activates or increases the frequency, rate or extent of gamma-aminobutyric acid catabolic process.


name: negative regulation of progesterone biosynthetic process

description: Any process that stops, prevents, or reduces the frequency, rate or extent of progesterone biosynthetic process.


name: positive regulation of naphtho-gamma-pyrone biosynthetic process

description: Any process that activates or increases the frequency, rate or extent of naphtho-gamma-pyrone biosynthetic process.


negative regulation of glyoxylate cycle

description: Any process that stops, prevents or reduces the frequency, rate or extent of glyoxylate cycle.


name: negative regulation of methane biosynthetic process from formic acid

description: Any process that stops, prevents or reduces the frequency, rate or extent of methane biosynthetic process from formic acid.


name: negative regulation of 'de novo' NAD biosynthetic process from tryptophan

description: Any process that stops, prevents or reduces the frequency, rate or extent of 'de novo' NAD biosynthetic process from tryptophan.


name: negative regulation of penicillin metabolic process

description: Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving any antibiotic that contains the condensed beta-lactamthiazolidine ring system.


name: negative regulation of proline biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of proline biosynthetic process.


name: regulation of xanthone-containing compound biosynthetic process

description: Any process that modulates the frequency, rate or extent of xanthone-containing compound biosynthetic process.


name: initiation of acetate catabolic process by acetate

description: The activation, by acetate, of the chemical reactions and pathways resulting in the breakdown of acetate.


name: positive regulation of fatty acid beta-oxidation by serotonin receptor signaling pathway

category: biolink:Pathway biolink:OntologyClass biolink:BiologicalProcess biolink:Occurrent biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: A serotonin receptor signaling pathway that results in positive regulation of fatty acid beta-oxidation.


name: negative regulation of F-9775A biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of F-9775A biosynthetic process.


name: negative regulation of F-9775B biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of F-9775B biosynthetic process.


name: regulation of kojic acid biosynthetic process

description: Any process that modulates the frequency, rate or extent of kojic acid biosynthetic process.


name: regulation of o-orsellinic acid biosynthetic process

description: Any process that modulates the frequency, rate or extent of o-orsellinic acid biosynthetic process.


name: regulation of tetrapyrrole biosynthetic process from glycine and succinyl-CoA

description: Any process that modulates the frequency, rate or extent of tetrapyrrole biosynthetic process from glycine and succinyl-CoA.


name: regulation of penicillin metabolic process

description: Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving any antibiotic that contains the condensed beta-lactamthiazolidine ring system.


name: negative regulation of proline metabolic process

description: Any process that stops, prevents, or reduces the frequency, rate or extent of proline metabolic process.


name: negative regulation of ecdysteroid biosynthetic process

description: Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of ecdysteroids.


name: regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase

description: Any process that modulates the frequency, rate or extent of fatty acid beta-oxidation using acyl-CoA dehydrogenase.


name: positive regulation of 'de novo' NAD biosynthetic process from tryptophan

description: Any process that activates or increases the frequency, rate or extent of 'de novo' NAD biosynthetic process from tryptophan.


name: positive regulation of methane biosynthetic process from 3-(methylthio)propionic acid

description: Any process that activates or increases the frequency, rate or extent of methane biosynthetic process from 3-(methylthio)propionic acid.


name: regulation of jasmonic acid metabolic process

description: Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving jasmonic acid.


name: regulation of L-leucine biosynthetic process

description: Any process that modulates the frequency, rate or extent of L-leucine biosynthetic process.


name: negative regulation of progesterone biosynthesis involved in luteolysis

description: Any process that decreases the rate, frequency or extent of the biosynthesis of progesterone biosynthesis that contributes to luteolysis.


name: positive regulation of xanthone-containing compound biosynthetic process

description: Any process that activates or increases the frequency, rate or extent of xanthone-containing compound biosynthetic process.


name: regulation of L-ascorbic acid biosynthetic process

description: Any process that modulates the frequency, rate or extent of L-ascorbic acid biosynthetic process.


name: regulation of neosartoricin biosynthetic process

description: Any process that modulates the frequency, rate or extent of neosartoricin biosynthetic process.


name: negative regulation of o-orsellinic acid biosynthetic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of o-orsellinic acid biosynthetic process.


name: regulation of monodictyphenone biosynthetic process

description: Any process that modulates the frequency, rate or extent of monodictyphenone biosynthetic process.


name: positive regulation of tetrapyrrole biosynthetic process from glutamate

description: Any process that activates or increases the frequency, rate or extent of tetrapyrrole biosynthetic process from glutamate.


name: positive regulation of butyryl-CoA catabolic process to butyrate

description: Any process that activates or increases the frequency, rate or extent of butyryl-CoA catabolic process to butyrate.


name: positive regulation of citrulline biosynthetic process

description: Any process that activates or increases the frequency, rate or extent of citrulline biosynthetic process.


name: regulation of indoleacetic acid biosynthetic process via tryptophan

description: Any process that modulates the frequency, rate or extent of indoleacetic acid biosynthetic process via tryptophan.


name: positive regulation of histidine biosynthetic process

description: Any process that activates or increases the frequency, rate or extent of histidine biosynthetic process.


name: cobyrinic acid a,c-diamide synthase activity

category: biolink:MolecularActivity biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: Catalysis of the conversion of cobyrinic acid to cobyrinic acid a,c-diamide via the intermediate formation of cobyrinic acid c-monoamide.


Anal Intraepithelial Neoplasia 2

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

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.


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.


name: cell migration involved in coronary vasculogenesis

description: The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form the blood vessels of the heart.


Neck Lymph Node Boundary Sublevel VB

category: biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: The following anatomical structures define the neck lymph node boundary for sublevel VB: Superior: horizontal plane defined by the lower border of the cricoid cartilage; inferior: clavicle; anterior (medial): posterior border of the sternocleidomastoid muscle; posterior (lateral): anterior border of the trapezius muscle. (AJCC 8th ed.)


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.


Sotos syndrome

description: Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.


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.


B cell deficiency

description: A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.


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.


synpolydactyly

description: A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).


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.


opsoclonus-myoclonus syndrome

description: Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.


name: autosomal dominant familial periodic fever

description: A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.


Bernard-Soulier syndrome

description: Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.


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.


BENTA disease

description: BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.


familial cold autoinflammatory syndrome

description: Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.


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.


Joubert syndrome 3

description: Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.


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.


Dubowitz syndrome

description: A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.


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.


Behr syndrome

description: A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.


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.


pseudopseudohypoparathyroidism

description: A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).


Diamond-Blackfan anemia 5

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.


AESOP Syndrome

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


empty sella syndrome

description: Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.


Postnatal Drug Withdrawal

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


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.


SAPHO syndrome

description: SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.


description: Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.


Fanconi anemia complementation group D1

description: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.


Gitelman syndrome

description: Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.


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.


Weaver syndrome

description: Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.


oculocerebrorenal syndrome

description: Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.


mucopolysaccharidosis type 4A

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.


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.


ataxia-pancytopenia syndrome

description: A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.


Laurence-Moon syndrome

description: A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.


leukocyte adhesion deficiency 1

description: Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.


split hand-foot malformation 3

description: The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.


name: multicentric carpo-tarsal osteolysis with or without nephropathy

description: Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.


Sturge-Weber syndrome

description: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.


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.


description: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.


PFAPA syndrome

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


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

description: An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.


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


pseudohypoparathyroidism type 1A

description: A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).


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).


Blau syndrome

description: Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.


name: ALG12-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).


Lambert-Eaton myasthenic syndrome

description: Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).


chromosome 18q deletion syndrome

description: A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.


triple-A syndrome

description: Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.


Fanconi anemia complementation group B

description: Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.


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: 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.


mucopolysaccharidosis type 6

description: Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.


name: autoimmune lymphoproliferative syndrome type 1

description: A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but variable penetrance. It is the most common subtype of autoimmune lymphoproliferative syndrome (ALPS). It is usually caused by a germline mutation in the Fas gene that leads to defective Fas-induced apoptosis but in a minority of cases, it also may be attributed to a somatic Fas mutation. 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.


orofaciodigital syndrome I

description: A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.


tooth and nail syndrome

description: Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.


long QT syndrome 12

description: Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.


description: Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.


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.


Ehlers-Danlos syndrome

description: The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.


von Hippel-Lindau disease

description: A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.


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.


UV-sensitive syndrome 1

description: Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.


Aicardi-Goutieres syndrome 5

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.


name: immunodeficiency 11b with atopic dermatitis

description: An autosomal dominant condition caused by mutation(s) in the CARD11 gene, encoding caspase recruitment domain-containing protein 11. It is characterized by the onset of moderate to severe atopic dermatitis in early childhood, defects in T-cell activation, increased IgE, and eosinophilia.


name: autosomal dominant Kenny-Caffey syndrome

description: An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.


osteoporosis-pseudoglioma syndrome

description: Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.


X-linked retinoschisis

description: A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.


autoimmune lymphoproliferative syndrome

description: Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.


congenital myasthenic syndrome 11

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.


hyper-IgM syndrome type 1

description: The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.


ataxia telangiectasia

description: Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.


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.


Prader-Willi syndrome

description: Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.


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.


Crigler-Najjar syndrome

description: Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.


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.


name: COVID-19–associated multisystem inflammatory syndrome in children

description: A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.


Freeman-Sheldon syndrome

description: A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.


Hallermann-Streiff syndrome

description: Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.


Renpenning syndrome

description: An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.


Chediak-Higashi syndrome

description: ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.


aneurysm-osteoarthritis syndrome

description: Loeys-Dietz syndrome caused by mutation(s) in the SMAD3 gene, encoding mothers against decapentaplegic homolog 3.


Bartter disease type 1

description: An autosomal recessive subtype of Bartter syndrome caused by mutation(s) in the SLC12A1 gene, encoding solute carrier family 12 member 1.The onset occurs in the antenatal period, and may be characterized by polyhydramnios, premature birth, failure to thrive and mental retardation. Clinical variability in the severity of symptoms exists and an essential feature of antenatal forms of Bartter syndrome is marked hypercalciuria.


name: ectodermal dysplasia and immune deficiency

description: A rare disorder caused by mutations either in the IKBKG gene resulting in an X-linked recessive inheritance pattern or in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections.


CINCA syndrome

description: Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.


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.


Ehlers-Danlos syndrome, classic type, 1

description: Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.


Menkes disease

description: A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.


name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

description: Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.


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.


chromosome 1p36 deletion syndrome

description: A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.


holoprosencephaly 4

description: A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.


name: hypogonadotropic hypogonadism 1 with or without anosmia

description: The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.


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.


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.


chronic granulomatous disease

description: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.


name: SAMD9-Associated Hereditary Myelodysplastic Syndrome

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


inborn error of immunity

description: A disorder in which the immune system is unable to mount an adequate immune response.


Refractory Neutropenia

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


nail-patella syndrome

description: A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.


Feminization

description: The development of secondary female sex characteristics in males.


name: muscular dystrophy-dystroglycanopathy, type A

description: A rare autosomal recessive inherited muscular dystrophy. It presents with generalized hypotonia, muscle weakness, mental retardation, developmental delays, and brain and eye abnormalities.


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.


Rienhoff syndrome

description: Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.


Fraser syndrome

description: Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.


MELAS syndrome

description: MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.


name: X-linked lymphoproliferative disease due to XIAP deficiency

description: A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.


trichothiodystrophy 3, photosensitive

description: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the GTF2H5 gene, encoding general transcription factor IIH subunit 5.


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.


EEC syndrome

description: EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).


Jackson-Weiss syndrome

description: Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

description: An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.


name: capillary malformation-arteriovenous malformation syndrome

description: This syndrome is characterized by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.


Greig cephalopolysyndactyly syndrome

description: Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.


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.


FG syndrome 1

description: Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.


Cowden disease

description: A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.


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.


mucopolysaccharidosis type 3D

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.


name: Multisystem inflammatory syndrome in adults

description: A rare syndrome found in adults with positive test results for SARS-CoV-2 by polymerase chain reaction or antibody assays indicating recent infection that is marked by cardiovascular, gastrointestinal, dermatologic, and neurologic symptoms without severe respiratory illness. The most common signs and symptoms that have been reported to date include fever, low blood pressure, abdominal pain, vomiting, diarrhea, neck pain, rash, chest pain, and tiredness not attributable to other infections.


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.


cold-induced sweating syndrome 2

description: Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene.


Angelman syndrome

description: A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.


Vici syndrome

description: A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.


complement component C1r/C1s deficiency

description: Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.


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.


multiple endocrine neoplasia type 4

description: An autosomal dominant tumor syndrome caused by germline CDKN1B mutations that result in a phenotype similar to that of multiple endocrine neoplasia type 1, characterized by endocrine neoplasms, particularly in the parathyroid glands, pituitary, and pancreas. (WHO 2017)


name: Childhood Myelodysplastic Syndrome with Low Blasts, Hypocellular

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


complement component 5 deficiency

description: A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.


Inspissated bile syndrome

description: Yellow pigmentation of the skin, mucous membranes and eyes due to hyperbilirubinemia caused by inspissated bile plugs in the bile ducts during the perinatal period.


Andersen-Tawil syndrome

description: Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.


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.


7q11.23 microduplication syndrome

description: 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.


Beare-Stevenson cutis gyrata syndrome

description: A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.


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.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

description: An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.


mucopolysaccharidosis type 3

description: Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterized by severe and rapid intellectual deterioration.


Brown-Vialetto-van Laere syndrome 2

description: Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.


Aicardi-Goutieres syndrome 1

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene.


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.


DOCK2 deficiency

description: An autosomal recessive combined immunodeficiency caused by mutation(s) in the DOCK2 gene, encoding dedicator of cytokinesis protein 2. It is characterized by combined immunodeficiency, primarily affecting T-cells, with more variable defects in B-cell and NK-cell function, resulting in viral and bacterial infections that may lead to death in severe cases.


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.


name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

description: A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.


name: Ehlers-Danlos syndrome, musculocontractural type 1

description: An autosomal recessive form of Ehlers-Danlos syndrome caused by mutation(s) in the CHST14 gene, encoding carbohydrate sulfotransferase 14.


name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY

description: An autosomal recessive common variable immunodeficiency caused by mutation(s) in the LRBA gene, encoding lipopolysaccharide-responsive and beige-like anchor protein. It is characterized by recurrent infections and the development of autoimmune disorders.


exfoliation syndrome

description: An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.


Aicardi-Goutieres syndrome 2

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene.


complement component 2 deficiency

description: Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.


tethered spinal cord syndrome

description: A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence.


mucopolysaccharidosis type 2

description: A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.


Proteus syndrome

description: Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.


Laron syndrome

description: Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.


multiple endocrine neoplasia type 1

description: Multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene MEN-1. Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors.


MHC class II deficiency

description: Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.


Fanconi anemia complementation group C

description: Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.


McCune-Albright syndrome

description: McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).


periodic fever syndrome

description: Fevers of unknown etiology recurring over months or years.


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.


name: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

description: An autosomal recessive condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is exceptionally rare, characterized by craniosynostosis, radiohumeral synostosis, genital anomalies, and impaired steroidogenesis.


Recurrent Cushing Disease

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


antiphospholipid syndrome

description: A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.


Silver-Russell syndrome

description: Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.


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.


Schuurs-Hoeijmakers syndrome

description: Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.


long QT syndrome 2

description: An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.


Holt-Oram syndrome

description: Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.


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.


immunodeficiency 28

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene.


Majeed syndrome

description: Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.


Netherton syndrome

description: Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.


creatine transporter deficiency

description: X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.


Kenny-Caffey syndrome

description: A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.


name: autoimmune lymphoproliferative syndrome type 2A

description: A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. 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.


Apert syndrome

description: Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.


VEXAS syndrome

description: An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death.


Cockayne syndrome

description: A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.


Fanconi anemia complementation group L

description: Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.


hyper-IgM syndrome type 2

description: A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.


trichorhinophalangeal syndrome type II

description: Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.


Pallister-Hall syndrome

description: Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.


paraneoplastic syndrome

description: A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm.


long QT syndrome 11

description: Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.


Ectopic aldosterone secretion

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


long QT syndrome 1

description: An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.


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.


Dravet syndrome

description: Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.


congenital myasthenic syndrome 4C

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.


Recurrent Endogenous Cushing Syndrome

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


name: DPAGT1-congenital disorder of glycosylation

description: DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).


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.


Coffin-Lowry syndrome

description: A rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.


Schwartz-Jampel syndrome

description: A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).