rickets

definition: A bone remodeling disease that has_material_basis_in a vitamin D deficiency in children which results_in softening and deformity located_in bone.

description: Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities.


name: Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

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

description: A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.


inborn errors of metabolism

definition: A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inhertied enzyme abnormality.

description: An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.


hereditary spastic paraplegia

definition: A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.

description: Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.


steroid inherited metabolic disorder

definition: An inherited metabolic disorder that involves defects in steroid metabolism.

description: Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero.


schneckenbecken dysplasia

description: Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.


Crigler-Najjar syndrome

definition: A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).

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.


hereditary hyperbilirubinemia

definition: An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.

description: An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.


Gilbert syndrome

definition: A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.

description: An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.


cerebrotendinous xanthomatosis

definition: A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.

description: Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.


hemolytic anemia

description: Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies.


name: autosomal recessive congenital ichthyosis

description: Autosomal recessive form of inherited ichthyosis.


skin neoplasm

description: A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma.


toxic encephalopathy

description: A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives.


primary congenital glaucoma

description: Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.


name: congenital disorder of glycosylation type I

definition: A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.


congenital disorder of glycosylation

definition: A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.

description: Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.


galactosemia

definition: A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.

description: Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.


galactokinase deficiency

definition: A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.

description: Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.


inclusion body myositis

description: A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.


sialuria

description: Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.


retinitis pigmentosa

description: Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.


name: congenital disorder of glycosylation type II

definition: A congenital disorder of glycosylation involve involve malfunctioning trimming/processing of the protein-bound oligosaccharide chain.

description: A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.


developmental disorder of mental health

definition: A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psycholotgical or physical development.

description: A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.


spondyloepimetaphyseal dysplasia

definition: An osteochondrodysplasia that results_in abnormalities of the located_in vertebral column, located_in epiphysis, located_in metaphysis.

description: An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.


achondrogenesis type IB

definition: An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.

description: Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.


diastrophic dysplasia

definition: An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.

description: Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).


GM2 gangliosidosis

description: A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.


Ehlers-Danlos syndrome

definition: A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising.

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.


osteochondrodysplasia

definition: A bone development disease that results_in defective development of located_in cartilage or located_in bone.

description: A term referring to disorders characterized by abnormalities in the development of bones and cartilage.


macular corneal dystrophy

description: Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.


congenital heart disease

description: A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.


Larsen syndrome

definition: An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities.

description: Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.


GM1 gangliosidosis

description: A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.


brachydactyly

description: A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.


name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1


spondylocostal dysostosis

definition: A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.

description: Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).


hyperphosphatemia

description: Abnormally high level of phosphate in the blood.


congenital muscular dystrophy

definition: A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities.

description: A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.


carcinoma

definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.

description: A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.


congenital myasthenic syndrome

definition: A neuromuscular junction disease that is characterized by weakness and easy fatigability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).

description: Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.


lysosomal storage disease

definition: An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.

description: A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.


name: non-syndromic X-linked intellectual disability

description: Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX.


obesity disorder

description: A disorder involving an excessive amount of body fat.


phenylketonuria

definition: An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.

description: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.


definition: A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.

description: Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.


name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

definition: A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.

description: A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.


name: inborn disorder of purine or pyrimidine metabolism

definition: An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.


name: purine nucleoside phosphorylase deficiency

definition: A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function.

description: Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.


name: glycogen storage disease due to glucose-6-phosphatase deficiency type IA

definition: A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly.

description: Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.


disorder of glycogen metabolism

definition: A carbohydrate metabolic disease that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

description: An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.


name: glycogen storage disease due to glycogen branching enzyme deficiency

description: Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.


glycogen storage disease II

definition: A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.

description: Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.


severe congenital neutropenia

description: A congenital disorder characterized by chronic neutropenia with absolute neutrophil count less than 500/uL and arrest of neutrophil maturation at the promyelocyte/myelocyte level. It is inherited in autosomal recessive or autosomal dominant patterns. Sporadic cases have also been reported. It is usually diagnosed in the first year of life. Patients present with frequent and life-threatening infections.


glycogen storage disease XV

description: Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.


inborn carbohydrate metabolic disorder

definition: An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.

description: An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.


mucopolysaccharidosis

definition: A lysosomal storage disease that involves he accumulation of glycosaminoglycans in the tissues and their excretion in the urine.

description: A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.


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.


mucopolysaccharidosis type 4

description: A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.


mucopolysaccharidosis type 7

description: Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.


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.


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.


mucopolysaccharidosis type 1

description: The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).


intestinal disaccharidase deficiency

description: Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age.


hereditary fructose intolerance

description: Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.


name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

description: Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.


interstitial lung disease

description: A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.


newborn respiratory distress syndrome

definition: A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.

description: A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange.


pulmonary alveolar proteinosis

definition: A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.

description: A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever.


pulmonary alveolar microlithiasis

description: Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.


lung disorder

definition: A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.

description: A disease involving the lung.


retinal disorder

description: Any disease or disorder of the retina.


microphthalmia

description: Congenital or developmental anomaly in which the eyeballs are abnormally small.


nervous system disorder

definition: A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.

description: A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.


hereditary disease

definition: A disease that has_material_basis_in genetic variations in the human genome.

description: A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.


neoplasm

definition: A disease that is characterized by abnormally rapid cell division.

description: A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.


breast carcinoma

definition: A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.

description: A carcinoma that arises from epithelial cells of the breast


neurodegenerative disease

definition: A central nervous system disease that results_in the progressive deterioration of function or structure of neurons.

description: A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function.


Rett syndrome

definition: A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

description: A severe neurodevelopmental disorder affecting the central nervous system.


pervasive developmental disorder

definition: A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.

description: A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.


hypertrichosis

description: Excessive hair growth anywhere on the body.


dilated cardiomyopathy

definition: An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently and characterized by an enlarged heart.

description: Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.


familial atrial fibrillation

definition: An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.

description: An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular.


cholelithiasis

description: The presence of calculi in the gallbladder.


atherosclerosis

description: Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen.


intrahepatic cholestasis

description: A cholestasis characterized by impairment of the bile flow caused by obstruction located in the liver.


Dubin-Johnson syndrome

definition: A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.

description: Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.


name: autosomal recessive inherited pseudoxanthoma elasticum

definition: An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.

description: An autosomal recessive form of PXE.


Tangier disease

description: Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.


cystic fibrosis

definition: An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.

description: Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.


adrenoleukodystrophy

definition: A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.

description: A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.


hyperinsulinemic hypoglycemia

definition: A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.

description: An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.


neonatal diabetes mellitus

description: Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life.


hypoglycemia

description: Abnormally low level of glucose in the blood.


Hartnup disease

definition: An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.

description: Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).


cystinuria

definition: An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.

description: Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.


name: inborn disorder of amino acid metabolism

definition: An inherited metabolic disorders which impair the synthesis and degradation of amino acids.

description: An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.


oculocutaneous albinism

description: Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.


sensorineural hearing loss disorder

description: Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).


cataract

description: Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)


aceruloplasminemia

definition: An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.

description: An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.


hereditary hemochromatosis

description: An inherited metabolic disorder characterized by iron accumulation in the tissues.


histiocytosis

definition: A lymphatic system disease that is characterized by an excessive number of histiocytes.

description: A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes.


hereditary episodic ataxia

description: Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.


name: congenital nonspherocytic hemolytic anemia

description: Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.


arterial tortuosity syndrome

definition: A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.

description: Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.


acquired metabolic disease

definition: A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.

description: An instance of metabolic disease that is acquired during the lifetime of the individual.


motor peripheral neuropathy

description: Inflammation or degeneration of the peripheral motor nerves.


renal tubular transport disease

description: Genetic defects in the selective or non-selective transport functions of the kidney tubules.


goiter

definition: A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.

description: Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing.


neurohypophyseal diabetes insipidus

description: Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis.


nephrolithiasis

description: The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.


hypophosphatemia

description: Lower than normal levels of phosphates in the circulating blood.


name: developmental and epileptic encephalopathy

description: A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.


Rh deficiency syndrome

description: The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.


name: systemic primary carnitine deficiency disease

definition: An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.

description: Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.


autism

definition: An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.

description: Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.


amelogenesis imperfecta

description: Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.


renal tubular acidosis

definition: A renal tubular transport disease characterized_by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine.

description: A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.


hypochromic microcytic anemia

description: Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).


hereditary spherocytosis

definition: A congenital hemolytic anemia characterized_by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.

description: Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.


syndromic intellectual disability

definition: An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.

description: A intellectual disability that is part of a larger syndrome.


primary hypertrophic osteoarthropathy

description: A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.


brain disorder

description: A disease affecting the brain or part of the brain.


acrodermatitis enteropathica

description: Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.


name: X-linked dominant hypophosphatemic rickets

definition: A metal metabolism disorder that results from the inactivation of hormone-like substances (phosphatonins) that promote phosphate excretion which has_material_basis_in a X-linked mutation in the PHEX gene.

description: X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.


congenital hypothyroidism

definition: A hypothyroidism that is present at birth.

description: A thyroid hormone deficiency present from birth.


congenital stationary night blindness

description: A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.


name: autosomal dominant nonsyndromic hearing loss

description: Autosomal dominant form of nonsyndromic deafness.


maturity-onset diabetes of the young

definition: A genetic disease that has_material_basis_in mutations in the MODY genes disrupting insulin production.

description: MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.


secretory diarrhea

definition: Secretory diarrhea is a diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions.

description: Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.


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.


distal arthrogryposis

definition: A muscle tissue disease characterized_by congenital joint contractures of hand and feet.

description: A muscle tissue disease characterized by congenital joint contractures of hand and feet.


syndromic disease

definition: A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality.

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


autosomal recessive disease

definition: An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.

description: Autosomal recessive form of disease.


basal ganglia cerebrovascular disorder

description: A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).


Bartter syndrome

description: Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.


papillary carcinoma

definition: A carcinoma that is derived_from epithelial cells with finger like projections.

description: A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma.


glucose intolerance

description: The inability to regulate blood glucose levels resulting in hyperglycemia.


inborn error of immunity

definition: An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.

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


severe combined immunodeficiency

definition: A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems.

description: Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.


ovarian cancer

description: A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.


hepatocellular carcinoma

description: A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.


macular degeneration

description: Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.


malaria

definition: A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.

description: Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.


hepatitis

description: An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders.


name: human betaherpesvirus 5 infectious disease

description: A disease caused by infection with Human betaherpesvirus 5.


acute myeloid leukemia

definition: A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.

description: Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections.


malignant pancreatic neoplasm

definition: An endocrine gland cancer located_in the pancreas.

description: A malignant neoplasm involving the pancreas.


endometrial cancer

description: Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).


gastric cancer

definition: A gastrointestinal system cancer that is located_in the stomach.

description: A primary or metastatic malignant neoplasm involving the stomach.


gonorrhea

definition: A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods.

description: A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease.


plasma cell myeloma

definition: A myeloma that is located_in the plasma cells in bone marrow.

description: A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)


amyloidosis

description: A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.


hepatitis B virus infection

description: A viral infection caused by the hepatitis B virus.


endometrioid tumor

description: A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells.


gastroenteritis

definition: A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen.

description: An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting.


gastrointestinal stromal tumor

description: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.


anaplastic large cell lymphoma

definition: A non-Hodgkin lymphoma involving aberrant T-cells.

description: Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.


name: primary cutaneous T-cell non-Hodgkin lymphoma

definition: A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells.

description: A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.


malignant colon neoplasm

definition: A colorectal cancer that is located_in the colon.

description: A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.


lactose intolerance

description: Inability to fully digest and absorb lactose due to limited or no lactase activity in the small intestine.  Congenital intolerance is inherited following an autosomal recessive pattern but is rare. It is more often due to a gradual decline of lactase production in adulthood following the ingestion of fewer lactose-containing foods or secondary to an intestinal mucosal brush-border injury. Prevalence is highest among Asians, Native Americans and Africans. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following the dietary intake of lactose.


Leber congenital amaurosis

description: Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.


blue cone monochromacy

description: Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.


fundus albipunctatus

description: Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.


blue color blindness

description: Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision.


red-green color blindness

description: Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.


red color blindness

description: Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males.


cone-rod dystrophy

definition: A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness.

description: Inherited retinal dystrophies that belong to the group of pigmentary retinopathies.


name: ZC3C1_HUMAN Zinc finger C3HC-type protein 1 (sprot)

description: A zinc finger C3HC-type protein 1 that is encoded in the genome of human.


name: BIN2_HUMAN Bridging integrator 2 (sprot)

description: A bridging integrator 2 that is encoded in the genome of human.


name: GOGA4_HUMAN Golgin subfamily A member 4 (sprot)

description: A golgin subfamily A member 4 that is encoded in the genome of human.


name: FIP1_HUMAN Pre-mRNA 3'-end-processing factor FIP1 (sprot)

description: A pre-mRNA 3'-end-processing factor FIP1 that is encoded in the genome of human.


gefitinib

A member of the class of quinazolines that is quinazoline which is substituted by a (3-chloro-4-fluorophenyl)nitrilo group, 3-(morpholin-4-yl)propoxy group and a methoxy group at positions 4,6 and 7, respectively. An EGFR kinase inhibitor used for the treatment of non-small cell lung cancer.


name: SPTB2_HUMAN Spectrin beta chain, non-erythrocytic 1 (sprot)

description: A spectrin beta chain, non-erythrocytic 1 that is encoded in the genome of human.


name: ZMYM2_HUMAN Zinc finger MYM-type protein 2 (sprot)

description: A zinc finger MYM-type protein 2 that is encoded in the genome of human.


name: MY18A_HUMAN Unconventional myosin-XVIIIa (sprot)

description: A myosin-XVIIIa that is encoded in the genome of human.


name: AKAP9_HUMAN A-kinase anchor protein 9 (sprot)

description: An A-kinase anchor protein 9 that is encoded in the genome of human.


name: SND1_HUMAN Staphylococcal nuclease domain-containing protein 1 (sprot)

description: A staphylococcal nuclease domain-containing protein 1 that is encoded in the genome of human.


name: PAPS1_HUMAN Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (sprot)

description: A bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 that is encoded in the genome of human.


name: TIF1A_HUMAN Transcription intermediary factor 1-alpha (sprot)

description: A transcription intermediary factor 1-alpha that is encoded in the genome of human.


F1142_HUMAN Protein FAM114A2 (sprot)

A protein FAM114A2 that is encoded in the genome of human.


name: TRAK1_HUMAN Trafficking kinesin-binding protein 1 (sprot)

description: A trafficking kinesin-binding protein 1 that is encoded in the genome of human.


name: FXR1_HUMAN RNA-binding protein FXR1 (sprot)

description: An RNA-binding protein FXR1 that is encoded in the genome of human.


name: KDM7A_HUMAN Lysine-specific demethylase 7A (sprot)

description: A lysine-specific demethylase 7A that is encoded in the genome of human.


name: CLCN6_HUMAN H(+)/Cl(-) exchange transporter 6 (sprot)

description: A chloride channel protein 6 that is encoded in the genome of human.


name: PAPD7_HUMAN Terminal nucleotidyltransferase 4A (sprot)

description: A terminal nucleotidyltransferase 4A that is encoded in the genome of human.


name: AP3B1_HUMAN AP-3 complex subunit beta-1 (sprot)

description: An AP-3 complex subunit beta-1 that is encoded in the genome of human.


name: QKI_HUMAN KH domain-containing RNA-binding protein QKI (sprot)

description: A KH domain-containing RNA-binding protein QKI that is encoded in the genome of human.


name: ATG7_HUMAN Ubiquitin-like modifier-activating enzyme ATG7 (sprot)

description: A ubiquitin-like modifier-activating enzyme ATG7 that is encoded in the genome of human.


name: ZCCHV_HUMAN Zinc finger CCCH-type antiviral protein 1 (sprot)

description: A zinc finger CCCH-type antiviral protein 1 that is encoded in the genome of human.


name: AGGF1_HUMAN Angiogenic factor with G patch and FHA domains 1 (sprot)

description: An angiogenic factor with G patch and FHA domains 1 that is encoded in the genome of human.


name: MPRIP_HUMAN Myosin phosphatase Rho-interacting protein (sprot)

description: A myosin phosphatase Rho-interacting protein that is encoded in the genome of human.


name: ATRAP_HUMAN Type-1 angiotensin II receptor-associated protein (sprot)

description: A type-1 angiotensin II receptor-associated protein that is encoded in the genome of human.


squamous cell lung carcinoma

description: A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.


ERLN2_HUMAN Erlin-2 (sprot)

An erlin-2 that is encoded in the genome of human.


urinary bladder carcinoma

definition: A urinary bladder cancer that arises_from tissues of the bladder.

description: A carcinoma that arises from epithelial cells of the urinary bladder


thyroid cancer

definition: An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage.

description: A malignant neoplasm involving the thyroid gland


name: AGK_HUMAN Acylglycerol kinase, mitochondrial (sprot)

description: An acylglycerol kinase, mitochondrial that is encoded in the genome of human.


N-acetyl-D-muramic acid

The pyranose form of N-acetylmuramic acid.


name: UL87_HCMVM Uncharacterized protein UL87 (sprot)


name: GM_HCMVM Envelope glycoprotein M (sprot)


name: GN_HCMVM Envelope glycoprotein N (sprot)


name: NS1_I34A1 Non-structural protein 1 (sprot)

description: An influenzavirus non-structural protein 1 that is encoded in the genome of the H1N1 strain A/Puerto Rico/8/1934.


name: IFIH1_HUMAN Interferon-induced helicase C domain-containing protein 1 (sprot)

description: An interferon-induced helicase C domain-containing protein 1 that is encoded in the genome of human.


TLR7_HUMAN Toll-like receptor 7 (sprot)

A Toll-like receptor 7 that is encoded in the genome of human.


name: ITP_HCMVM Inner tegument protein (sprot)


name: VIE2_HCMVM Viral transcription factor IE2 (sprot)


name: TRX1_HCMVM Triplex capsid protein 1 (sprot)


name: TRX2_HCMVM Triplex capsid protein 2 (sprot)


name: TRM2_HCMVM Tripartite terminase subunit 2 (sprot)


name: TRM3_HCMVM Tripartite terminase subunit 3 (sprot)


name: GB_HCMVM Envelope glycoprotein B (sprot)


name: GO_HCMVM Envelope glycoprotein O (sprot)


name: GL_HCMVM Envelope glycoprotein L (sprot)


name: GH_HCMVM Envelope glycoprotein H (sprot)


name: CPSF6_HUMAN Cleavage and polyadenylation specificity factor subunit 6 (sprot)

description: A cleavage and polyadenylation specificity factor subunit 6 that is encoded in the genome of human.


name: LRRF1_HUMAN Leucine-rich repeat flightless-interacting protein 1 (sprot)

description: A leucine-rich repeat flightless-interacting protein 1 that is encoded in the genome of human.


CNTRL_HUMAN Centriolin (sprot)

A centriolin that is encoded in the genome of human.


name: FGOP2_HUMAN FGFR1 oncogene partner 2 (sprot)

description: An FGFR1 oncogene partner 2 that is encoded in the genome of human.


name: BCR_HUMAN Breakpoint cluster region protein (sprot)

description: A breakpoint cluster region protein that is encoded in the genome of human.


name: CEP43_HUMAN Centrosomal protein 43 (sprot)

description: A centrosomal protein 43 that is encoded in the genome of human.


name: CUX1_HUMAN Homeobox protein cut-like 1 (sprot)

description: A CUX1 gene translation product (human), isoforms h1, h2, h3, h5, h6, h7, and h11.


name: LMO7_HUMAN LIM domain only protein 7 (sprot)

description: A LIM domain only protein 7 that is encoded in the genome of human.


name: BC11A_HUMAN B-cell lymphoma/leukemia 11A (sprot)

description: A B-cell lymphoma/leukemia 11A that is encoded in the genome of human.


name: KAP0_HUMAN cAMP-dependent protein kinase type I-alpha regulatory subunit (sprot)

description: A cAMP-dependent protein kinase type I-alpha regulatory subunit that is encoded in the genome of human.


name: GCC2_HUMAN GRIP and coiled-coil domain-containing protein 2 (sprot)

description: A GRIP and coiled-coil domain-containing protein 2 that is encoded in the genome of human.


diffuse large B-cell lymphoma

definition: A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body.

description: Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common.


name: CLH1_HUMAN Clathrin heavy chain 1 (sprot)

description: A clathrin heavy chain 1 that is encoded in the genome of human.


thyroid gland carcinoma

definition: A thyroid cancer that has_material_basis_in epithelial cells.

description: A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic.


name: SHOC2_HUMAN Leucine-rich repeat protein SHOC-2 (sprot)

description: A leucine-rich repeat protein SHOC-2 that is encoded in the genome of human.


lymphoma

definition: A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.

description: A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.


prostate cancer

description: A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.


cutaneous melanoma

definition: A skin cancer that has_material_basis_in melanocytes.

description: A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.


pilocytic astrocytoma

definition: An astrocytoma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain.

description: Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported.


F131B_HUMAN Protein FAM131B (sprot)

A protein FAM131B that is encoded in the genome of human.


name: K1549_HUMAN UPF0606 protein KIAA1549 (sprot)

description: A UPF0606 protein KIAA1549 that is encoded in the genome of human.


name: ETV6_HUMAN Transcription factor ETV6 (sprot)

description: A transcription factor ETV6 that is encoded in the genome of human.


prostate adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the prostate gland


astrocytic tumor

definition: A malignant glioma that is has_material_basis_in astocyte cells, a type of glial cell, located_in the cerebrum.

description: A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.


name: HPRT_HUMAN Hypoxanthine-guanine phosphoribosyltransferase (sprot)

description: A hypoxanthine-guanine phosphoribosyltransferase that is encoded in the genome of human.


myeloid leukemia

definition: A leukemia that is located_in myeloid tissue.

description: A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia.


cholangiocarcinoma

definition: A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.

description: A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.


name: GPIX_HUMAN Platelet glycoprotein IX (sprot)

description: A platelet glycoprotein IX that is encoded in the genome of human.


name: GP1BB_HUMAN Platelet glycoprotein Ib beta chain (sprot)

description: A platelet glycoprotein Ib beta chain that is encoded in the genome of human.


name: GPV_HUMAN Platelet glycoprotein V (sprot)

description: A platelet glycoprotein V that is encoded in the genome of human.


name: HEM2_HUMAN Delta-aminolevulinic acid dehydratase (sprot)

description: A delta-aminolevulinic acid dehydratase that is encoded in the genome of human.


non-Hodgkin lymphoma

description: Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.


Pfeiffer syndrome

definition: An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.

description: Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.


name: KANK1_HUMAN KN motif and ankyrin repeat domain-containing protein 1 (sprot)

description: A KN motif and ankyrin repeat domain-containing protein 1 that is encoded in the genome of human.


hypochondroplasia

definition: An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.

description: Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.


Crouzon syndrome

definition: A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.

description: Crouzon disease is characterized by craniosynostosis and facial hypoplasia.


testicular cancer

description: A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.


thanatophoric dysplasia

definition: An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.

description: Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.


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.


syndactyly

definition: A synostosis that results_in the fusion of two or more digits.

description: A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms.


name: BIRC6_HUMAN Baculoviral IAP repeat-containing protein 6 (sprot)

description: A baculoviral IAP repeat-containing protein 6 that is encoded in the genome of human.


myeloproliferative neoplasm

definition: A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.

description: A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)


name: GOGB1_HUMAN Golgin subfamily B member 1 (sprot)

description: A golgin subfamily B member 1 that is encoded in the genome of human.


hypereosinophilic syndrome

description: Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage.


neuroblastoma

definition: An autonomic nervous system neoplasm that derives_from immature nerve cells.

description: Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system.


name: PUR9_HUMAN Bifunctional purine biosynthesis protein ATIC (sprot)

description: A bifunctional purine biosynthesis protein ATIC that is encoded in the genome of human.


name: TPM3_HUMAN Tropomyosin alpha-3 chain (sprot)

description: A tropomyosin alpha-3 chain that is encoded in the genome of human.


inflammatory myofibroblastic tumor

definition: A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.

description: A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells.


name: epithelioid inflammatory myofibroblastic sarcoma

definition: An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells.


name: RRBP1_HUMAN Ribosome-binding protein 1 (sprot)

description: A ribosome-binding protein 1 that is encoded in the genome of human.


AMNLS_HUMAN Protein amnionless (sprot)

A protein amnionless that is encoded in the genome of human.


name: DPM3_HUMAN Dolichol-phosphate mannosyltransferase subunit 3 (sprot)

description: A dolichol-phosphate mannosyltransferase subunit 3 that is encoded in the genome of human.


name: DPM2_HUMAN Dolichol phosphate-mannose biosynthesis regulatory protein (sprot)

description: A dolichol phosphate-mannose biosynthesis regulatory protein that is encoded in the genome of human.


name: DPM1_HUMAN Dolichol-phosphate mannosyltransferase subunit 1 (sprot)

description: A dolichol-phosphate mannosyltransferase subunit 1 that is encoded in the genome of human.


name: GALE_HUMAN UDP-glucose 4-epimerase (sprot)

description: A UDP-glucose 4-epimerase that is encoded in the genome of human.


name: DHDDS_HUMAN Dehydrodolichyl diphosphate synthase complex subunit DHDDS (sprot)

description: A dehydrodolichyl diphosphate synthase complex subunit DHDDS that is encoded in the genome of human.


name: NGBR_HUMAN Dehydrodolichyl diphosphate synthase complex subunit NUS1 (sprot)

description: A dehydrodolichyl diphosphate synthase complex subunit NUS1 that is encoded in the genome of human.


name: KCJ11_HUMAN ATP-sensitive inward rectifier potassium channel 11 (sprot)

description: An ATP-sensitive inward rectifier potassium channel 11 that is encoded in the genome of human.


name: POMT2_HUMAN Protein O-mannosyl-transferase 2 (sprot)

description: A protein O-mannosyl-transferase 2 that is encoded in the genome of human.


name: POMT1_HUMAN Protein O-mannosyl-transferase 1 (sprot)

description: A protein O-mannosyl-transferase 1 that is encoded in the genome of human.


name: C1GLT_HUMAN Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (sprot)

description: A glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 that is encoded in the genome of human.


name: ALG13_HUMAN UDP-N-acetylglucosamine transferase subunit ALG13 (sprot)

description: A putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 that is encoded in the genome of human.


A phenylalanine-4-hydroxylase that is encoded in the genome of human.


name: APT_HUMAN Adenine phosphoribosyltransferase (sprot)

description: An adenine phosphoribosyltransferase that is encoded in the genome of human.


name: PNPH_HUMAN Purine nucleoside phosphorylase (sprot)

description: A purine nucleoside phosphorylase that is encoded in the genome of human.


KHK_HUMAN Ketohexokinase (sprot)

A ketohexokinase that is encoded in the genome of human.


name: SUIS_HUMAN Sucrase-isomaltase, intestinal (sprot)

description: A sucrase-isomaltase, intestinal that is encoded in the genome of human.


name: LPH_HUMAN Lactase/phlorizin hydrolase (sprot)

description: A lactase/phlorizin hydrolase that is encoded in the genome of human.


name: ALDOB_HUMAN Fructose-bisphosphate aldolase B (sprot)

description: A fructose-bisphosphate aldolase B that is encoded in the genome of human.


name: SLC31_HUMAN Amino acid transporter heavy chain SLC3A1 (sprot)

description: An amino acid transporter heavy chain SLC3A1 that is encoded in the genome of human.


name: 4F2_HUMAN Amino acid transporter heavy chain SLC3A2 (sprot)

description: An amino acid transporter heavy chain SLC3A2 that is encoded in the genome of human.


name: S40A1_HUMAN Solute carrier family 40 member 1 (sprot)

description: A solute carrier family 40 member 1 that is encoded in the genome of human.


CERU_HUMAN Ceruloplasmin (sprot)

A ceruloplasmin that is encoded in the genome of human.


HEPH_HUMAN Hephaestin (sprot)

A hephaestin that is encoded in the genome of human.


name: NU153_HUMAN Nuclear pore complex protein Nup153 (sprot)

description: A nuclear pore complex protein Nup153 that is encoded in the genome of human.


name: NUP88_HUMAN Nuclear pore complex protein Nup88 (sprot)

description: A nuclear pore complex protein Nup88 that is encoded in the genome of human.


name: NU205_HUMAN Nuclear pore complex protein Nup205 (sprot)

description: A nuclear pore complex protein Nup205 that is encoded in the genome of human.


name: NU155_HUMAN Nuclear pore complex protein Nup155 (sprot)

description: A nuclear pore complex protein Nup155 that is encoded in the genome of human.


name: PO210_HUMAN Nuclear pore membrane glycoprotein 210 (sprot)

description: A nuclear pore membrane glycoprotein 210 that is encoded in the genome of human.


name: NUP93_HUMAN Nuclear pore complex protein Nup93 (sprot)

description: A nuclear pore complex protein Nup93 that is encoded in the genome of human.


NUP35_HUMAN Nucleoporin NUP35 (sprot)

A nucleoporin NUP35 that is encoded in the genome of human.


SEH1_HUMAN Nucleoporin SEH1 (sprot)

A nucleoporin SEH1 that is encoded in the genome of human.


name: RAE1L_HUMAN mRNA export factor RAE1 (sprot)

description: An mRNA export factor RAE1 that is encoded in the genome of human.


name: NUP50_HUMAN Nuclear pore complex protein Nup50 (sprot)

description: A nuclear pore complex protein Nup50 that is encoded in the genome of human.


AAAS_HUMAN Aladin (sprot)

An aladin that is encoded in the genome of human.


NUP42_HUMAN Nucleoporin NUP42 (sprot)

A nucleoporin NUP42 that is encoded in the genome of human.


name: RAI1_HUMAN Retinoic acid-induced protein 1 (sprot)

description: A retinoic acid-induced protein 1 that is encoded in the genome of human.


name: AL1A2_MOUSE Retinal dehydrogenase 2 (sprot)

description: A retinal dehydrogenase 2 that is encoded in the genome of mouse.


name: HXA6_HUMAN Homeobox protein Hox-A6 (sprot)

description: A homeobox protein Hox-A6 that is encoded in the genome of human.


name: HXB4_CHICK Homeobox protein Hox-B4 (sprot)

description: A homeobox protein Hox-B4 that is encoded in the genome of chicken.


name: HXA6_CHICK Homeobox protein Hox-A6 (sprot)

description: A homeobox protein Hox-A6 that is encoded in the genome of chicken.


name: FOXC2_HUMAN Forkhead box protein C2 (sprot)

description: A forkhead box protein C2 that is encoded in the genome of human.


name: FOXC1_HUMAN Forkhead box protein C1 (sprot)

description: A forkhead box protein C1 that is encoded in the genome of human.


name: FOXC2_MOUSE Forkhead box protein C2 (sprot)

description: A forkhead box protein C2 that is encoded in the genome of mouse.


name: FOXC1_MOUSE Forkhead box protein C1 (sprot)

description: A forkhead box protein C1 that is encoded in the genome of mouse.


name: SIK1_HUMAN Serine/threonine-protein kinase SIK1 (sprot)

description: A serine/threonine-protein kinase SIK1 that is encoded in the genome of human.


name: FGF4_HUMAN Fibroblast growth factor 4 (sprot)

description: A fibroblast growth factor 4 that is encoded in the genome of human.


name: FGF4_CHICK Fibroblast growth factor 4 (sprot)

description: A fibroblast growth factor 4 that is encoded in the genome of chicken.


name: FGF8_HUMAN Fibroblast growth factor 8 (sprot)

description: A fibroblast growth factor 8 that is encoded in the genome of human.


name: FGF8_MOUSE Fibroblast growth factor 8 (sprot)

description: A fibroblast growth factor 8 that is encoded in the genome of mouse.


WNT3_MOUSE Proto-oncogene Wnt-3 (sprot)

A proto-oncogene Wnt-3 that is encoded in the genome of mouse.


name: ZN638_HUMAN Zinc finger protein 638 (sprot)

description: A zinc finger protein 638 that is encoded in the genome of human.


name: ZN467_HUMAN Zinc finger protein 467 (sprot)

description: A zinc finger protein 467 that is encoded in the genome of human.


name: COT2_HUMAN COUP transcription factor 2 (sprot)

description: A COUP transcription factor 2 that is encoded in the genome of human.


name: ADIRF_HUMAN Adipogenesis regulatory factor (sprot)

description: An adipogenesis regulatory factor that is encoded in the genome of human.


name: TBX1_HUMAN T-box transcription factor TBX1 (sprot)

description: A T-box transcription factor TBX1 that is encoded in the genome of human.


name: TBX1_MOUSE T-box transcription factor TBX1 (sprot)

description: A T-box transcription factor TBX1 that is encoded in the genome of mouse.


name: ERR1_MOUSE Steroid hormone receptor ERR1 (sprot)

description: A steroid hormone receptor ERR1 that is encoded in the genome of mouse.


A member of the class of furans that is furan in which the hydrogen atom at position 2 has been replaced by an ethyl group.


name: ATP-dependent Clp protease proteolytic subunit, mitochondrial, signal peptide removed form

description: An ATP-dependent Clp protease proteolytic subunit, mitochondrial that has had the signal peptide removed.


name: NHR90_CAEEL Nuclear hormone receptor family member nhr-90 (sprot)

description: A protein that is a translation product of the nhr-90 gene in worm.


DNA-3-methyladenine glycosylase 2

A protein that is a translation product of the Escherichia coli K-12 alkA gene or a 1:1 ortholog thereof.


name: 3MG2_ECOLI DNA-3-methyladenine glycosylase 2 (sprot)

description: A DNA-3-methyladenine glycosylase 2 that is encoded in the genome of Escherichia coli K-12.


name: DNA-(apurinic or apyrimidinic site) endonuclease, initiator methionine removed form

description: A DNA-(apurinic or apyrimidinic site) endonuclease that has had the initiator methionine removed.


name: DNA-(apurinic or apyrimidinic site) endonuclease, initiator methionine removed form (human)

description: A DNA-(apurinic or apyrimidinic site) endonuclease (human) that has had the initiator methionine removed. UniProtKB:P27695, 2-318.


name: RS10B_YEAST Small ribosomal subunit protein eS10B (sprot)

description: A protein that is a translation product of the RPS10B gene in yeast.


Obstructive Ureterocele

description: A ureterocele with a small, obstructive orifice.


ureterocele

description: A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra.


Orthotopic ureterocele

description: A ureterocele that is located entirely within the bladder, and which may be associated with a single system, with the upper pole ureter of a completely duplicated system, or rarely associated with a lower pole ureter. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.)


Sphincteric Ureterocele

description: A ureterocele in which the orifice is distal to the external urinary sphincter.


Cecoureterocele

description: A ureterocele in which the orifice is located in the bladder, with the ureterocele pouch extending submucosally into the urethra.


Ectopic ureterocele

description: A ureterocele in which some portion of the ureterocele is situated permanently at the bladder neck or in the urethra. The orifice may be situated in the bladder, at the bladder neck, or in the urethra. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.)


name: eukaryotic translation initiation factor 4E phosphorylated 1 (human)

description: A eukaryotic translation initiation factor 4E (human) that has been phosphorylated on the residue at the position equivalent to Ser-53 of the amino acid sequence represented by UniProtKB:P06730-1. Example: UniProtKB:P06730-1, Ser-53, MOD:00046.


AXIN1_DANRE Axin-1 (sprot)

An Axin-1 that is encoded in the genome of zebrafish.


An Axin that is a translation product of the human AXIN1 gene or a 1:1 ortholog thereof.


Axin-1 isoform 2 (rat)

An Axin-1 isoform 2 that is encoded in the genome of rat.


AXIN1_CHICK Axin-1 (sprot)

An Axin-1 that is encoded in the genome of chicken.


Axin-1 isoform 1 (human)

An Axin-1 isoform 1 that is encoded in the genome of human.


Axin-1 ubiquitinated 1 (human)

An Axin-1 (human) that has been ubiquitinated on the residue at the position equivalent to Lys-501 of the amino acid sequence represented by UniProtKB:O15169. UniProtKB:O15169, Lys-501, MOD:01148.


Axin-1 sequence variant L396M (human)

An Axin-1 (human) that has a Met residue at the position equivalent to Leu-396 of the amino acid sequence represented by UniProtKB:O15169-1. Example: UniProtKB:O15169-1, Leu-396, CHEBI:16044.


Axin-1 ADP-ribosylated form (human)

An Axin-1 (human) that includes at least one ADP-ribosylated residue. UniProtKB:O15169, MOD:00752.


Axin-1 isoform 1

An Axin-1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O35625-1 or a 1:1 ortholog thereof.


Axin-1 isoform 2 (human)

An Axin-1 isoform 2 that is encoded in the genome of human.


Axin-1 phosphorylated 1 (human)

An Axin-1 (human) that has been phosphorylated on the residue at the position equivalent to Thr-481, and phosphoserine at positions 486 and 493 of the amino acid sequence represented by UniProtKB:O15169. UniProtKB:O15169, Thr-481, MOD:00047|Ser-486/Ser-493, MOD:00046.


Axin-1 isoform 1 (mouse)

An Axin-1 isoform 1 that is encoded in the genome of mouse.


Axin-1 isoform 2 (mouse)

An Axin-1 isoform 2 that is encoded in the genome of mouse.


Axin-1 sequence variant Y346* (human)

An Axin-1 (human) that has has been truncated after the position equivalent to Pro-345 of the amino acid sequence represented by UniProtKB:O15169-1. Example: UniProtKB:O15169-1, 1-345.


name: Axin-1 ADP-ribosylated and ubiquitinated form (human)

description: An Axin-1 (human) that includes at least one ADP-ribosylated residue and at least one ubiquitinated lysine. UniProtKB:O15169, MOD:00752|MOD:01148.


Axin-1 isoform 2

An Axin-1 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O35625-2 or a 1:1 ortholog thereof.


Axin-1 sequence variant R354L (human)

An Axin-1 (human) that has a Leu residue at the position equivalent to Arg-354 of the amino acid sequence represented by UniProtKB:O15169-1. Example: UniProtKB:O15169-1, Arg-354, CHEBI:30006.


Axin-1 sequence variant W247* (human)

An Axin-1 (human) that has has been truncated after the position equivalent to Glu-246 of the amino acid sequence represented by UniProtKB:O15169-1. Example: UniProtKB:O15169-1, 1-246.