carbohydrate metabolism disease

A disease that has its basis in the disruption of carbohydrate metabolic process.


necrotizing encephalomyelopathy, subacute, of Leigh, adult

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


carbohydrate transport disease

A disease that has its basis in the disruption of carbohydrate transport.


disorder of folate metabolism and transport


coenzyme Q10 deficiency

A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.


schizophrenia 15

A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.


hereditary hyperekplexia

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.


inborn disorder of ornithine or proline metabolism


myeloid neoplasm

Proliferation of myeloid cells originating from a primitive stem cell.


porphyria

Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.


eye adnexa disorder

A disease involving the ocular adnexa.


inborn disorder of pyridoxine metabolism

An inherited metabolic disease that is has its basis in the disruption of pyridoxine metabolic process.


neuroaxonal dystrophy

A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)


Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).


craniosynostosis syndrome, autosomal recessive

Autosomal recessive form of craniosynostosis.


Mendelian neurodevelopmental disorder

A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.


Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.


primary non-gestational choriocarcinoma of ovary

Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism.


theca steroid-producing cell malignant tumor of ovary, not further specified

Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome.


congenital hematological disorder

A disorder of the blood that is present at birth.


prolactin producing pituitary tumor

An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin.


2-hydroxyglutaric aciduria

2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.


sella turcica neoplasm

A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma.


uterine cancer

Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix.


developmental and epileptic encephalopathy

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.


electroclinical syndrome

An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.


mouth disorder

A disease involving the mouth.


Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder.


autosomal recessive degenerative and progressive cerebellar ataxia


autosomal recessive metabolic cerebellar ataxia


pseudoxanthomatous diffuse cutaneous mastocytosis

Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering.


inborn disorder of neurotransmitter metabolism and transport


pregnancy disorder

A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.


Neu-Laxova syndrome

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.


progressive non-fluent aphasia

Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.


familial adrenal hypoplasia with absent pituitary luteinizing hormone


subcutaneous tissue disorder

A disease involving the superficial fascia.


pyruvate carboxylase deficiency, severe neonatal type

Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.


schizophrenia 5

A schizophrenia that has material basis in a mutation on chromosome 6q13-q26.


obesity due to melanocortin 4 receptor deficiency

Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.


mucopolysaccharidosis

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.


disorder of protein N-glycosylation

A disease that has its basis in the disruption of protein N-linked glycosylation.


partial lipodystrophy

Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.


inborn disorder of tryptophan metabolism

An inherited metabolic disease that is has its basis in the disruption of tryptophan metabolic process.


primordial dwarfism and slender bone disorder

A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.


inherited ichthyosis

Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.


osteonecrosis of genetic origin

An instance of osteonecrosis that is caused by a modification of the individual's genome.


acute neonatal citrullinemia type I

Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.


inherited lipid metabolism disorder

An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.


mood disorder

A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.


mitochondrial oxidative phosphorylation disorder


schizophrenia 2

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.


disorder of glycogen metabolism

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.


erythrokeratoderma

An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.


disorder of glycosylation

A disease that has its basis in the disruption of glycosylation.


valine metabolism disease

A disease that has its basis in the disruption of valine metabolic process.


central nervous system neoplasm

A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.


pyruvate carboxylase deficiency, benign type

Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.


cholesterol catabolic process disease

A disease that has its basis in the disruption of cholesterol catabolic process.


spondyloepiphyseal dysplasia

An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis.


metabolic myopathy

A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.


congenital bile acid synthesis defect 4

An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.


inborn disorder of lysine and hydroxylysine metabolism


sickle cell-hemoglobin c disease syndrome

A hemoglobinopathy that is considered a hybrid of sickle cell disease and hemoglobin C disease. Patients present with the symptoms of sickle cell disease but the latter are less frequent and severe compared to sickle cell disease.


metabolic disease involving other neurotransmitter deficiency


Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type.


inborn carbohydrate metabolic disorder

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


HSD10 disease, neonatal type

HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.


bone disorder

Diseases of bones.


disorder of iron metabolism and transport


schizophrenia 11

A schizophrenia that has material basis in a mutation on chromosome 10q22.3.


hereditary dementia

An instance of dementia that is caused by an inherited genomic modification in an individual.


X-linked disease

X-linked form of disease.


neurodevelopmental disorder

A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.


laminopathy

A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.


synostosis

A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.


systemic-onset juvenile idiopathic arthritis

Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.


inborn errors of metabolism

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


inborn disorder of histidine metabolism

An inherited metabolic disease that is has its basis in the disruption of histidine metabolic process.


MELAS syndrome caused by mutation in MTTC

Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene.


cervical adenosarcoma

A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements.


uterine corpus cancer

A malignant neoplasm involving the body of uterus.


multiple congenital anomalies/dysmorphic syndrome without intellectual disability


disorder of vitamin and non-protein cofactor absorption and transport


chronic childhood arthritis

An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.


calcium metabolic disease

Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.


anterior cerebral artery infarction

Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body.


sitosterolemia

A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.


multi-infarct dementia

A common form of dementia caused by multiple cortical or subcortical cerebral infarctions.


syndrome caused by partial chromosomal deletion

A chromosomal disorder consisting of the absence of a part of a chromosome.


hematopoietic and lymphoid cell neoplasm

A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes.


22q11.2 deletion syndrome

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.


peroxisome biogenesis disorder

Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).


hypophosphatasia

Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).


Huntington disease and related disorders

A grouping for Huntington disease and similar diseases.


obstetric disorder

Disorder associated with pregnancy, childbirth, and puerperium.


connective tissue disorder

A disease involving the connective tissue.


disorder of peroxisomal alpha oxidation

Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.


Leber plus disease

Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.


hyperbilirubinemia

A disease characterized by elevated level of the pigment bilirubin in the blood.


urinary system disorder

A disease involving the renal system.


eye degenerative disorder

A neurodegenerative disease that involves the eye.


pervasive developmental disorder

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.


SPAST-related motor disorder

Heterozygous variants in SPAST have been reported in relation to pure spastic paraplegias (infantile, ascending), complicated or complex spastic paraplegia (with dementia, cerebellar ataxia, epilepsy, and/or peripheral neuropathy) and cerebral palsy. Age of symptom onset ranges from neonatal to advanced age with varying symptom severity,


corpus uteri neoplasm

A neoplasm (disease) that involves the body of uterus.


primary progressive aphasia

Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA).


Creutzfeldt Jacob disease

A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.


syndromic craniosynostosis

A craniosynostosis that is part of a larger syndrome.


inherited hemoglobinopathy

An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.


alternating hemiplegia of childhood

A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.


high-grade neuroendocrine carcinoma of the cervix uteri

High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent.


adrenal gland neoplasm

A neoplasm (disease) that involves the adrenal gland.


skeletal system disorder

A disease involving the skeletal system.


endometrioid stromal sarcoma

A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.


reproductive system disorder

A disease involving the reproductive system.


mild phosphoribosylpyrophosphate synthetase superactivity

Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.


gonadal disorder

A non-neoplastic or neoplastic disorder that affects the testis or the ovary.


steroid inherited metabolic disorder

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


schizophrenia 16

A schizophrenia that has material basis in a mutation on chromosome 7q36.3.


chromosomal disorder

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)


MELAS syndrome caused by mutation in MTND5

Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene.


inborn disorder of bile acid synthesis

Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.


early-onset autosomal dominant Alzheimer disease

A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.


hyperphenylalaninemia due to DNAJC12 deficiency

Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).


familial ovarian cancer

An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.


mental disorder

A disease that has its basis in the disruption of mental process.


Bartter syndrome type 4

A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.


hypothalamic neoplasm

A primary or metastatic neoplasm that affects the hypothalamus.


disorder of carnitine cycle and carnitine transport


hereditary peripheral neuropathy

An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.


neurocristopathy

That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage.


inborn vitamin B12 deficiency

Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.


non-syndromic intellectual disability

An intellectual disability that is not part of a larger syndrome.


schizophrenia 7

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.


male reproductive system disorder

A disease involving the male reproductive system.


GLUT1 deficiency syndrome

An epileptic encephalopathy resulting from impaired glucose transport into the brain.


anemia due to enzyme disorder

Any form of anemia that results from the absence of, or the defective action of, any enzyme.


neoplasm of mature B-cells

A neoplasm of follicle center B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).


epilepsy, idiopathic generalized

A chronic condition characterized by recurrent generalized seizures.


autoimmune primary adrenal insufficiency

Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.


inherited glutathione metabolism disease

An inherited metabolic disease that is has its basis in the disruption of glutathione metabolic process.


sleep-wake disorder

Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle.


endometrial disorder

A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.


cancer

A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.


Antley-Bixler syndrome

Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.


inborn disorder of biogenic amine metabolism and transport


inborn disorder of cobalamin metabolism and transport


hereditary ataxia

An instance of an atactic disorder that is caused by an inherited genomic modification in an individual.


atypical hemolytic-uremic syndrome with H factor anomaly


bullous diffuse cutaneous mastocytosis

Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin.


tetrahydrobiopterin metabolic process disease

A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process.


hemosiderosis

Accumulation of iron in internal organs.


non-classic congenital lipoid adrenal hyperplasia due to STAR deficency


hereditary motor neuron disease

An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.


anterior horn disorder

Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis.


congenital disorder of glycosylation type I

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


secondary trimethylaminuria

A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.


postmenopausal osteoporosis

Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.


pyruvate metabolism disorder

An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.


inherited neurodegenerative disorder

An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.


neuromuscular disease

Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions


osteosclerotic plasma cell myeloma

A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.


schizophrenia 12

A schizophrenia that has material basis in a mutation on chromosome 1p36.2.


malignant ovarian cyst

A cystic cancerous tumor arising from the ovary.


pyrimidine metabolism disease

A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.


ichthyosis, X-linked, without steroid sulfatase deficiency


pseudohypoaldosteronism type 1

Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.


pregnancy associated osteoporosis

A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.


rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.


familial amyotrophic lateral sclerosis

An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.


hereditary epidermal appendage anomaly

An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.


mitochondrial DNA depletion syndrome, encephalomyopathic form

Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.


autosomal dominant disease

Autosomal dominant form of disease.


disorder of orbital region

A disease that involves the orbital region.


microcephaly

A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.


disorder of visual system

A disease that involves the visual system.


vitamin deficiency disorder

A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.


disorder of galactose and fructose metabolism

An inherited disorder of carbohydrate metabolism that is has its basis in the disruption of galactose and/or fructose metabolic process.


primitive neuroectodermal tumor of the cervix uteri

Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement.


lysosomal lipid storage disorder

An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.


skull neoplasm

A benign or malignant neoplasm that affects the bones and structures of the skull.


CPOX-related hereditary coproporphyria

Any inherited porphyria in which the cause of the disease is monoallelic or biallelic variants in the CPOX gene.


inherited dystonia

An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.


null syndrome

The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.


glycine metabolism disease

A disease that has its basis in the disruption of glycine metabolic process.


pyridoxine-dependent epilepsy

A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).


isolated congenital hypogonadotropic hypogonadism

A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome.


hereditary disorder of connective tissue

An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.


peroxisomal single enzyme/protein defect

Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.


inborn disorder of methionine cycle and sulfur amino acid metabolism

An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process.


bone development disease

A disease involving the bone development.


hereditary photodermatosis

Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.


adrenocortical hypofunction, chronic primary congenital


obesity due to pro-opiomelanocortin deficiency

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.


syndromic dyslipidemia

A inherited lipid metabolism disorder that is part of a larger syndrome.


inborn disorder of ornithine metabolism

An inherited metabolic disease that is has its basis in the disruption of ornithine metabolic process.


hypothalamic disorder

Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders.


inherited primary ovarian failure

An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.


inherited porphyria

Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.


paranoid schizophrenia

A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect.


cerebral creatine deficiency syndrome

Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.


hereditary skin disorder

An instance of skin disease that is caused by a modification of the individual's genome.


neurometabolic disorder due to serine deficiency

Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.


neoplastic disease or syndrome

Either an isolated neoplasm or a syndrome with neoplasm as a major feature.


neonatal/infantile epilepsy syndrome

An epilepsy sydrome that has an onset during the neonatal or infantile stage of life.


integumentary system disorder

A disease involving the integumental system.


maternally-inherited Leigh syndrome

Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.


multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome


familial partial lipodystrophy

Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.


inborn disorder of the gamma-glutamyl cycle


respiratory system cancer

A malignant neoplasm involving the respiratory system


inborn disorder of pentose phosphate metabolism


combined pituitary hormone deficiencies, genetic form

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.


endometrioid stromal sarcoma of the vagina

A rare sarcoma that arises from the vagina. This category includes low grade endometrioid stromal sarcoma and undifferentiated vaginal sarcoma.


congenital anemia

Anemia, the cause of which is present at birth.


disorder of mineral absorption and transport


familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).


cervical carcinosarcoma

A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma.


neonatal period electroclinical syndrome

An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.


T-B- severe combined immunodeficiency

T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types.


adrenal cortex disorder

A disease involving the adrenal cortex.


Imerslund-Grasbeck syndrome

Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.


hereditary macular dystrophy

Macular dystrophy that is related to a change in a gene.


upper digestive tract disorder

A disease or disorder that involves the upper digestive tract.


bone remodeling disease

A bone disease that results in formation or resorption abnormalities located in bone.


inborn disorder of purine or pyrimidine metabolism


mitochondrial membrane transport disorder


orotic aciduria without megaloblastic anemia


disorder of beta and omega amino acid metabolism


inherited pseudohypoaldosteronism

A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology.


maternal phenylketonuria

Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.


neonatal-onset developmental and epileptic encephalopathy

A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.


non-classic congenital adrenal hyperplasia

A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement.


MELAS syndrome caused by mutation in MTTS2

Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene.


urea cycle disorder

A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.


gamma-amino butyric acid metabolism disorder

An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.


urea cycle disorder or inherited hyperammonemia

A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).


MELAS syndrome caused by mutation in MTTK

Any MELAS syndromein which the cause of the disease is a mutation in the MTTK gene.


hereditary site-specific ovarian cancer syndrome

Ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients.


cervix disorder

A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma.


severe Canavan disease

Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.


malignant Sertoli-Leydig cell tumor of ovary

Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional.


familial cutaneous melanoma

An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome.


skull disorder

A non-neoplastic or neoplastic disorder that affects structures of the skull.


congenital nervous system disorder

An abnormality of the nervous system that is present at birth or detected in the neonatal period.


riboflavin transporter deficiency

A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.


primary adrenal insufficiency

A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.


MELAS syndrome caused by mutation in MTND6

Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene.


autosomal recessive cerebellar ataxia

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.


Friedreich ataxia

An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.


X-linked cerebral adrenoleukodystrophy

A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.


frontotemporal dementia, right temporal atrophy variant

Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.


Pelizaeus-Merzbacher disease, connatal form

The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.


mitochondrial encephalomyopathy

A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)


musculoskeletal system disorder

A disease involving the musculoskeletal system.


MELAS syndrome caused by mutation in MTTH

Any MELAS syndromein which the cause of the disease is a mutation in the MTTH gene.


polyarticular juvenile rheumatoid arthritis


inborn vitamin metabolic disorder

An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process.


skeletal dysplasia

Any Mendelian diseases that affects growth and development of the skeleton.


bone inflammation disease

Inflammation of the bone.


cranial nerve neuropathy

A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.


dysostosis

A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.


acute disease

Disease having a short and relatively severe course.


behavioral variant of frontotemporal dementia

Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.


inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.


maculopapular cutaneous mastocytosis

Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.


thalamic disorder

A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma.


tricarboxylic acid cycle disorder

An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle.


familial Alzheimer disease

A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner.


nutritional deficiency disease

A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)


ocular vascular disorder

A disorder that is caused by pathologic changes in the ocular vasculature.


plasma cell neoplasm

A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance.


metachromatic leukodystrophy, late infantile form


cerebellar disorder

Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.


overnutrition

An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity.


inherited kidney disorder

A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system.


X-linked recessive disease

X-linked recessive form of disease.


leukocyte disorder

A disease involving leukocytes.


severe phosphoribosylpyrophosphate synthetase superactivity

Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.


MELAS syndrome caused by mutation in MTTL1

Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene.


posterior cerebral artery infarction

Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia).


nervous system neoplasm

A neoplasm (disease) that involves the nervous system.


metabolic disease

A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.


MELAS syndrome caused by mutation in MTTS1

Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene.


inborn disorder of aspartate family metabolism

An inherited metabolic disease that is has its basis in the disruption of aspartate family amino acid metabolic process.


mild phenylketonuria

Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.


respiratory system disorder

A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.


leiomyosarcoma of the cervix uteri

Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver.


inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.


adult-onset citrullinemia type I

Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.


immune system disorder

A disorder resulting from an abnormality in the immune system.


peroxisome biogenesis disorder due to PEX7 defect

Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.


adrenocortical unresponsiveness to ACTH with postreceptor defect


steroid metabolism disease

A disease that has its basis in the disruption of steroid metabolic process.


inborn disorder of porphyrin metabolism

An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process.


juvenile Huntington disease

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age.


inborn mitochondrial metabolism disorder

Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.


neurovascular disorder

A disorder of the nervous system related to a vascular etiology.


schizophrenia 8

A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p.


inborn disorder of lysosomal amino acid transport


uterine disorder

A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma.


cancer or benign tumor

Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions.


Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase.


skull base neoplasm

A benign or malignant neoplasm that affects the skull base.


disorder of peroxisomal transporter

Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.


metachromatic leukodystrophy

A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.


multiple congenital anomalies/dysmorphic syndrome


creatine biosynthetic process disease

A disease that has its basis in the disruption of creatine biosynthetic process.


sulfur metabolism disease

A disease that has its basis in the disruption of sulfur compound metabolic process.


congenital nonspherocytic hemolytic anemia

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.


hereditary cerebellar ataxia

Cerebellar ataxia that is transmitted from parent to child.


complex neurodevelopmental disorder

A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).


sporadic Creutzfeldt-Jakob disease

Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD).


LCAT deficiency

LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.


malignant essential hypertension

Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure.


sulfite oxidase deficiency due to molybdenum cofactor deficiency


eyelid disorder

A disease involving the eyelid.


myopathy, lactic acidosis, and sideroblastic anemia

Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy.


lysosomal storage disease

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.


familial primary hypomagnesemia

A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.


bone resorption disease

A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.


hereditary lipodystrophy

An instance of lipodystrophy that is caused by an inherited genomic modification in an individual.


benign neoplasm

A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites.


lymphoma

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.


connective tissue neoplasm

Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.


hyperinsulinemic hypoglycemia

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.


encephalopathy due to sulfite oxidase deficiency

Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.


dihydropteridine reductase deficiency

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.


perceptual disorders

Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.


infectious disorder of the nervous system

A infectious disease that involves the nervous system.


P5CS deficiency

An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.


endometrium neoplasm

A neoplasm (disease) that involves the endometrium.


citrin deficiency

Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).


inborn disorder of branched-chain amino acid metabolism

An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.


malignant neoplasm of endocervix

A cancer that involves the endocervix.


glucose metabolism disease

A metabolic disorder characterized by abnormal blood glucose levels.


vitamin B12- and folate-independent constitutional megaloblastic anemia


endometrioid stromal sarcoma of the cervix

A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.


pyruvate carboxylase deficiency, infantile form

Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.


erythrocyte disorder

A disease or disorder that involves the erythrocyte.


non-secretory plasma cell myeloma

A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.


neutropenia

A decrease in the number of neutrophils found in the blood.


disorder of peptide and amine metabolism

An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.


mild Canavan disease

Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.


sphingolipidosis

An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.


mitochondrial substrate carrier disorder


recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome

Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.


multiple congenital anomalies/dysmorphic syndrome-intellectual disability


inborn disorder of bilirubin metabolism

An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome.


tauopathy

Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.


idiopathic disease

A disease or disorder for which the cause is of uncertain or unknown.


anxiety disorder

A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.


cerebrovascular disorder

A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.


treatment-refractory schizophrenia

Schizophrenia which does not respond to commonly used treatments.


congenital structural myopathy

A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.


cholesterol metabolism disease

A disease that has its basis in the disruption of cholesterol metabolic process.


uterine ligament adenosarcoma

An extremely rare adenosarcoma that arises from the uterine ligament.


osteogenesis imperfecta and a reduction of bone mineral density.

A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density.


inborn disorder of proline metabolism

An inherited metabolic disease that is has its basis in the disruption of proline metabolic process.


heart disorder

A disease involving the heart and/or pericardium.


idiopathic juvenile osteoporosis

Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age.


A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma.


lower respiratory tract disorder

A disease involving the lower respiratory tract.


porphyrin metabolism disease

A disease that has its basis in the disruption of porphyrin-containing compound metabolic process.


familial hyperlipidemia

An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome.


inborn disorder of ketolysis

An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.


disorder of fatty acid and ketone body metabolism


prion disease

A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.


familial severe combined immunodeficiency


endocrine gland neoplasm

A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma.


obesity due to leptin receptor gene deficiency

Deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the LEPR gene.


premenopausal osteoporosis

Osteoporosis occuring in premenopausal women with existing fragility fractures, diseases or treatments known to cause bone loss or fractures.


glycerol kinase deficiency, juvenile form

Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.


iron metabolism disease

Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.


dopa-responsive dystonia

Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.


osteogenesis imperfecta

Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.


developmental disorder of mental health

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.


inborn serine deficiency

An inherited metabolic disease that is has its basis in the disruption of L-serine biosynthetic process.


uterine cervix neoplasm

A neoplasm (disease) that involves the uterine cervix.


hereditary skeletal muscle disorder

An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.


disorder of thiamine metabolism and transport


hereditary hyperbilirubinemia

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.


immune system cancer

A malignant neoplasm involving the immune system


pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.


malignant mixed epithelial and mesenchymal tumor of cervix uteri


renal tubular transport disease

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


familial hypoaldosteronism

Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).


mitochondrial DNA depletion syndrome

The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.


glycoprotein metabolism disease

A disease that has its basis in the disruption of glycoprotein metabolic process.


Pelizaeus-Merzbacher disease, classic form

The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.


disorder of organic acid metabolism

A disease that has its basis in the disruption of organic acid metabolic process.


metabolic epilepsy

Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.


peroxisome biogenesis disorder due to PEX12 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.


infantile glycine encephalopathy

Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.


atactic disorder

A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.


amino sulfonic acid

An organosulfonic acid containing one or more amino groups.


L-Cysteic acid

The L-enantiomer of cysteic acid.


A 1-phosphatidyl-1D-myo-inositol in which the 1- and 2-acyl groups are octadecanoyl and icosatetraenoyl respectively.


N-acylammonia

A carboxamide obtained by the formal condensation of the carboxy group of any carboxylic acid with ammonia.


A pyrazinecarboxamide in which a 6-oxo-1,6-dihydropyrazine nucleus is substituted on C-5 by a 4-hydroxyphenyl group and on C-2 by a butylcarbamyl group. A synthetic determinant of cefadroxil, it is a promising tool for determining in vitro cross-reactivity to cefadroxil in amoxicillin-allergic patients.


Foradil

An N-[2-hydroxy-5-(1-hydroxy-2-{[1-(4-methoxyphenyl)propan-2-yl]amino}ethyl)phenyl]formamide in which both of the stereocentres have S configuration.


An N-alkylpyrrolidine that consists of N-methylpyrrolidine bearing a pyridin-3-yl substituent at position 2.


Stage IIIB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

Stage IIIB includes: T3b, N0, M0. T3b: Uterine corpus endometrial stroma sarcoma with tumor infiltrating abdominal tissues at more than one site. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIIB Colon Cancer AJCC v8

Stage IIIB includes: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)


Stage III Colon Cancer AJCC v8

Stage III includes: IIIA: (T1-T2, N1/N1c, M0); (T1, N2a, M0); IIIB: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0); IIIC: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2: Four or more regional lymph nodes are positive. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)


Stage IIIC Colon Cancer AJCC v8

Stage IIIC includes: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N2: Four or more regional lymph nodes are positive. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)


Stage IIIA Colon Cancer AJCC v8

Stage IIIA includes: (T1-T2, N1/N1c, M0); (T1, N2a, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2a: Four to six regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)


uronic acid

A carbohydrate acid formally derived by oxidation to a carboxy group of the terminal -CH2OH group of any aldose or ketose.


D-galacturonic acid

The D-enantiomer of galacturonic acid. It is the main component of pectin.


D-Galacturonic Acid

The pyranose form of D-galacturonic acid


D-Glucuronic Acid

A D-glucuronic acid in cyclic pyranose form.


D-glucuronic acid

The D-enantiomer of glucuronic acid.


An N-substituted pyrraline formed via Maillard reaction of L-ornithine with glucose.


Fulvestrant

A 3-hydroxy steroid that is 17beta-estradiol in which the 7alpha hydrogen has been replaced by a nonyl group in which one of the hydrogens of the terminal methyl has been replaced by a (4,4,5,5,5-pentafluoropentyl)sulfinyl group. An estrogen receptor antagonist, it is used in the treatment of breast cancer.


diester

A diester is a compound containing two ester groups.


doxacurium chloride

The dichloride salt of doxacurium. It is a mixture of the (1R,2S,1'S,2'R), (1R,2S,1'R,2'S) and (1S,2R,1'S,2'R) stereoisomers (a meso isomer and two enantiomers, respectively) of 2,2'-[(1,4-dioxobutane-1,4-diyl)bis(oxypropane-3,1-diyl)]bis[6,7,8-trimethoxy-2-methyl-1-(3,4,5-trimethoxybenzyl)-1,2,3,4-tetrahydroisoquinolinium] dichloride, all of which are in a trans configuration at the 1 and 2 positions of the tetrahydroisoquinolinium rings. A competitive neuromuscular blocker, it is used to provide muscle relaxation in general anaesthesia and to facilitate mechanical ventilation in patients in intensive care.


(r)-Malathion

A diethyl 2-[(dimethoxyphosphorothioyl)thio]succinate that is the R-enantiomer of malathion.


Doxacurii chloridum

The dichloride salt of meso-doxacurium.


(S)-Nisoldipine

A methyl 2-methylpropyl 2,6-dimethyl-4-(2-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate that has S configuration.


(S)-Nicardipine

The S-enantiomer of nicardipine.


(S)-Malathion

A diethyl 2-[(dimethoxyphosphorothioyl)thio]succinate that is the S-enantiomer of malathion.


(+/-)-Doxacurium chloride

The dichloride salt of (1R,2S,1'R,2'S)-doxacurium.


(R)-Nisoldipine

A methyl 2-methylpropyl 2,6-dimethyl-4-(2-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate that has R configuration.


(1S,2R,1'S,2'R)-doxacurium chloride

The dichloride salt of (1S,2R,1'S,2'R)-doxacurium.


(R)-Nicardipine

The R-enantiomer of nicardipine.


Danshensu

A (2R)-2-hydroxy monocarboxylic acid that is (R)-lactic acid substituted at position 3 by a 3,4-dihydroxyphenyl group.


delta-Tocotrienol

A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2 and 8 and a farnesyl chain at position 2.


chromanol

Any member of the class of chromanes that is chromane substituted by one or more hydroxy groups.


The (S,R,S)-stereoisomer of alpha-tocopherol.


beta-Tocotrienol

A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2, 5 and 8 and a farnesyl chain at position 2. It has been isolated from various cultivars of wheat.


The (R,R,S)-stereoisomer of alpha-tocopherol.


alpha-tocopherol

A tocopherol that is chroman-6-ol substituted by methyl groups at positions 2, 5, 7 and 8 and a 4,8,12-trimethyltridecyl group at position 2.


(S,S,R)-alpha-Tocopherol

The (S,S,R)-stereoisomer of alpha-tocopherol.


(R,S,R)-alpha-Tocopherol

The (R,S,R)-stereoisomer of alpha-tocopherol.


tocol

A chromanol with a chroman-6-ol skeleton that is substituted at position 2 by a saturated or triply-unsaturated hydrocarbon chain consisting of three isoprenoid units.


Tocopherols

A collective name for a group of closely related lipids that contain a chroman-6-ol nucleus substituted at position 2 by a methyl group and by a saturated hydrocarbon chain consisting of three isoprenoid units. They are designated as alpha-, beta-, gamma-, and delta-tocopherol depending on the number and position of additional methyl substituents on the aromatic ring. Tocopherols occur in vegetable oils and vegetable oil products, almost exclusively with R,R,R configuration. Tocotrienols differ from tocopherols only in having three double bonds in the hydrocarbon chain.


alpha-Tocotrienol

A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2, 5, 7 and 8 and a farnesyl chain at position 2. It has been found in palm oil derived from Elaeis guineensis.


(-)-alpha-Tocopherol

The (S,S,S)-stereoisomer of alpha-tocopherol.


(S,R,R)-alpha-Tocopherol

The (S,R,R)-stereoisomer of alpha-tocopherol.


Aquasol E

The (R,S,S)-stereoisomer of alpha-tocopherol.


gamma-Tocotrienol

A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2, 7 and 8 and a farnesyl chain at position 2. A vitamin E family member that has potent anti-cancer properties against a wide-range of cancers.


Mismatch Repair-Deficient Endometrial Endometrioid Adenocarcinoma

An endometrial endometrioid adenocarcinoma characterized by mismatch repair (MMR) deficiency caused by inactivating methylation or less frequently mutation of an MMR gene (MLH1, PMS2, MSH2, or MSH6).


C-14 demethylated eburicol


Malignant neoplasm of exocervix

A malignant neoplasm that affects the exocervix.


carboxamidine

Compounds having the structure RC(=NR)NR2. The term is used as a suffix in systematic nomenclature to denote the -C(=NH)NH2 group including its carbon atom.


Pyrantel

A carboxamidine that is 1,4,5,6-tetrahydropyrimidine that is substituted at position 1 by a methyl group and at position 2 by an (E)-2-(2-thienyl)vinyl group. It is used, particularly as the embonate [4,4'-methylenebis(3-hydroxy-2-naphthoate)] salt, as an anthelmintic that is effective against intestinal nematodes including threadworms, roundworms and hookworms, and is included in the WHO 'Model List of Essential Medicines'.


onium cation

Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families.


chlorobenzophenone

A member of the class of benzophenones that is any substituted benzophenone in which at least one of the substituents is a chlorine.


Silthiofam

A monocarboxylic acid amide obtained by formal condensation of the carboxy group from 4,5-dimethyl-2-(trimethylsilyl)thiophene-3-carboxlic acid with the amino group of allylamine. A fungicide seed dressing for cereals used mainly to control 'take-all'.


Stigmastanol

A 3-hydroxy steroid that is 5alpha-stigmastane which is substituted at the 3beta position by a hydroxy group.


anilines

Any  aromatic amine that is benzene carrying at least one amino substituent and its substituted derivatives.


(R)-aminoglutethimide

The (3R)-enantiomer of aminoglutethimide.


dimethylaniline

A methylaniline carrying at least two methyl groups.


A member of the class of pyrroles carrying a 2-amino-3-chlorophenyl substituent at position 3.


hydroxykynurenamine

Any kynurenamine carrying a hydroxy substituent.


amino-nitrotoluene

A nitrotoluene carrying at least one amino group.


hydroxykynurenine

A hydroxy-amino acid that is kynurenine substituted by a single hydroxy group at unspecified position. A "closed" class.


methylaniline

A substituted aniline carrying one or more methyl groups at unspecified positions.


KYNURENINE

A ketone that is alanine in which one of the methyl hydrogens is substituted by a 2-aminobenzoyl group.


A member of the class of pyrroles carrying chloro and 2-amino-3-chlorophenyl substituents at positions 3 and 4 respectively.


Sapropterin dihydrochloride

The dihydrochloride salt of sapropterin. It is used for the diagnosis and treatment of variant forms of phenylketonuria (hyperphenylalaninaemia) associated with tetrahydrobiopterin deficiency. Natural cofactor for phenylalanine hydroxylase, tyrosine hydroxylase, tryptophan hydroxylase, and nitric oxide synthetase.


fluorenes

An ortho-fused polycyclic arene in which the skeleton is composed of two benzene rings ortho-fused to cyclopentane.


tetrol

A polyol that contains 4 hydroxy groups.


A hydroxycalciol that is a synthetic fluorinated and deuterated analogue of vitamin D3 which exhibits vitamin D receptor superagonist and anti-cancer activity.


1alpha,23(S),25-trihydroxyvitamin D3

A hydroxycalciol that consists of vitamin D3 (calciol) bearing additional hydroxy substituents at positions 1, 23 and 25 (with 1alpha,23S-configuration). An intermediate in the degradation pathway of 1alpha,25-(OH)2D3.


(20S,23,24)-trihydroxyvitamin D3

A hydroxycalciol that consists of vitamin D3 (calciol) carrying additional hydroxy groups  at positions 20 (with S-configuration), 23 and 24.


A vitamin D that is 19-norcalcitriol carrying an additional 3-hydroxypropyl substituent at position 2. A synthetic analogue of vitamin D, it exhibits anticancer properties.


Nordihydroguaiaretic acid

A tetrol that is butane which is substituted at positions 2 and 3 by 3,4-dihydroxybenzyl groups. Masoprocol, the meso-form found in the leaves of the creosote bush (Larrea divaricata), is a potent lipoxygenase inhibitor.


Eldecalcitol

A hydroxycalciol that is calcitriol with a 3-hydroxypropoxy group at position 2.


(20S,23,25)-trihydroxyvitamin D3

A hydroxycalciol that consists of vitamin D3 (calciol) carrying additional hydroxy groups at positions 20 (with S-configuration), 23 and 25.


A hydroxycalciol that is calcitriol with a 4-hydroxybutoxy group at position 2.


A 6-lactoyl-5,6,7,8-tetrahydropterin in which the stereocentre at position 6 has R-configuration.


diazine

The parent structure of the diazines.


Pyrazine

A diazine that is benzene in which the carbon atoms at positions 1 and 4 have been replaced by nitrogen atoms.


An  oxazolidinone that is 1,3-oxazolidine with an oxo substituent at position 2.


A glycerophosphoethanolamine that is sn-glycero-3-phosphoethanolamine in which positions 1 and 2 are substituted by unspecified acyl and alkyl groups, and in which the positions of the acyl and alkyl groups are also unspecified.


4-(2-phenylethylsulfamoyl)-1H-pyrrole-2-carboxylic acid methyl ester


1-Hexyl-3-methylimidazolium chloride

An organic chloride salt in which the cationic component is 1-hexyl-3-methylimidazolium.


L-Mannitol

The L-enantiomer of mannitol.


asthma-related traits, susceptibility to, 8


Aurachin C

A C-type aurachin that is quinolin-4-one which is substituted by a hydroxy group at positions 1, a methyl group at position 2, and a triprenyl group at position 3.


An (S)-nicotine N(1')-oxide in which the N(1')-methyl group is on the opposite side of the pyrrolidine ring to the pyridine substituent. The major species at pH 7.3.


pyrrolidine N-oxides

Any member of the class of pyrrolidines that are substituted by an organyl group at position 1 and in which the amino group of the pyrrolidine ring has been oxidised to give the corresponding N-oxide.


A nicotine N(1')-oxide resulting from the oxidation of the pyrrolidine nitrogen of (S)-nicotine; major species at pH 7.3.


An (S)-nicotine N(1')-oxide in which the N(1')-methyl group is on the same side of the pyrrolidine ring as the pyridine substituent. The major species at pH 7.3.


Cinanserin hydrochloride

The hydrochloride salt of cinanserin. It is an inhibitor of 3C-like proteinase of severe acute respiratory syndrome coronavirus (SARS-Cov) and reduces virus replication in vitro.


(R)-2-hydroxy-3-methylbutanoic acid

The R-enantiomer of 2-hydroxy-3-methylbutyric acid.


diphenylethane

Compounds containing two phenyl groups connected by an ethyl linker.


benzoins

An aromatic ketone containing a benzoin (2-hydroxy-1,2-diphenylethanone) skeleton.


carbonate ester

Any carbonate that is carbonic acid in which the hydrogens have been replaced by organyl groups.


SPIROTETRAMAT

An azaspiro compound that is methoxycyclohexane which is fused at position 4 to the 5-position of a 1,5-dihydro-2H-pyrrol-2-one that is substituted at positions 3 and 4 by 2,5-dimethylphenyl and (ethoxycarbonyl)oxy groups, respectively (the cis isomer). It is a proinsecticide (via hydrolysis of the ethyl carbonate group to give the corresponding 4-hydroxypyrrol-2-one, "spirotetramat-enol") and is used for the control of a wide range of sucking insects on fruit and potato crops.


Spiropidion

An azaspiro compound that is 1-methoxypiperidine which is fused at position 4 to the 5-position of a 1,5-dihydro-2H-pyrrol-2-one that is substituted at positions 1, 3 and 4 by methyl, 4-chloro-2,6-dimethylphenyl and (ethoxycarbonyl)oxy groups, respectively. It is a proinsecticide developed by Syngenta and used to protect a wide range of crops from some of the most damaging, difficult to control sucking pests such as aphids, whiteflies, Pysllids, armoured scales, soft scales, spider mites, rust mites, and red mites including California red scale, green peach aphid (Myzus persicae), tobacco whitefly etc.


A 1-methyl-4-pyridone-5-carboxamide with 2 deuterium atoms replacing 2 hydrogen atoms.


(s)-Salmeterol

2-(Hydroxymethyl)-4-(1-hydroxy-2-{[6-(4-phenylbutoxy)hexyl]amino}ethyl)phenol in which the stereocentre has S configuration.


(r)-Salmeterol

2-(Hydroxymethyl)-4-(1-hydroxy-2-{[6-(4-phenylbutoxy)hexyl]amino}ethyl)phenol in which the stereocentre has R configuration.


methylcytidine

Any member of the class of cytidines that is cytidine substituted by at least one methyl group.


D-fructofuranose 6-phosphate

The five-membered ring form of D-fructose 6-phosphate.


Colorectal Leiomyosarcoma

An aggressive malignant smooth muscle neoplasm that arises from the colon or rectum.  It is characterized by a proliferation of neoplastic spindle cells.


An unsymmetrical C3 cyanine dye having benzothiazolium-2-yl and quinolinium-4-yl substituents.