C1Q deficiency

C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.


Bruton-type agammaglobulinemia

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

X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.


IFN-gamma Receptor 1 Deficiency

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


tuberous sclerosis 1

Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).


de novo Myelodysplastic Syndrome

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


fetal valproate syndrome

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


syndromic X-linked intellectual disability 5

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.


Parana hard-skin syndrome

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


tempi syndrome

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


Fanconi anemia complementation group D2

Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.


Griscelli syndrome type 2

Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.


Opitz G/BBB syndrome

Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).


Myhre syndrome

Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.


Townes-Brocks syndrome

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.


long QT syndrome 14

Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.


acrocephalosyndactyly

Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.


severe combined immunodeficiency due to CD70 deficiency

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


proteasome-associated autoinflammatory syndrome 1

An autosomal recessive condition caused by mutation(s) in the PSMB8 gene, encoding proteasome subunit beta type-8. It is characterized by early onset annular erythematous plaques, partial lipodystrophy, and recurrent fever.


CODAS syndrome

Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.


DNA ligase IV deficiency

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).


congenital myasthenic syndrome 5

Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.


transient hypogammaglobulinemia

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


Vertiginous syndrome

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


thoracic outlet syndrome

A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip.


selective IgG immunodeficiency

A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.


epidermodysplasia verruciformis, susceptibility to, 4

An autosomal recessive condition caused by mutation(s) in the RHOH gene, encoding Rho-related GTP-binding protein RhoH. It presents in childhood and is characterized by defects in T-cell development and signaling leading to increased susceptibility to certain human papilloma viruses (HPV) that cause warty skin lesions that are unresponsive to treatment.


Fanconi anemia complementation group N

Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.


trichothiodystrophy

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins).


selective IgG subclass deficiency

A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria.


Hermansky-Pudlak syndrome 2

A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.


leukocyte adhesion deficiency type II

Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.


chromosome 16p12.1 deletion syndrome, 520kb

A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.


cauda equina syndrome with neurogenic bladder

A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disk herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted.


classic dopamine transporter deficiency syndrome

Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay.


fetal hydantoin syndrome

Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.


POEMS syndrome

POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.


trisomy X

Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).


Fanconi anemia complementation group I

Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.


myelodysplastic syndrome associated with isolated del(5q)

A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)


IL21-related infantile inflammatory bowel disease

An autosomal recessive subtype of common variable immunodeficiency caused by mutation(s) in the IL21 gene, encoding interleukin-21.


Alport syndrome

A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.


neurofibromatosis type 1

A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.


orofaciodigital syndrome type 6

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.


complement component 3 deficiency

A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.


developmental defect during embryogenesis

A disease that has its basis in the disruption of embryonic morphogenesis.


MHC class I deficiency

Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.


multiple system atrophy

Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.


Williams syndrome

A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)


Genitourinary syndrome of menopause

A spectrum of lower urogenital tract signs and symptoms that are associated with the decreased production of estrogen experienced during menopause.  Findings may include genital dryness, burning or irritation, dyspareunia, decreased libido, urinary urgency, dysuria and recurrent urinary tract infections.


cerebrooculofacioskeletal syndrome 4

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.


Miller-Dieker lissencephaly syndrome

A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.


T-B+ severe combined immunodeficiency due to JAK3 deficiency

Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.


lymphoproliferative syndrome 1

A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..


Usher syndrome type 1

A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.


Ogden syndrome

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.


The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.


congenital disorder of glycosylation

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


immunodeficiency 104

A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.


Carney triad

Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.


mucopolysaccharidosis type 3B

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.


Denys-Drash syndrome

Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.


Hypomorphic RAG1 Deficiency

A condition of decreased or absent presence or activity of V(D)J recombination-activating protein 1. Deficiency of this protein is associated with Omenn syndrome, severe combined immunodeficiency, b cell-negative, combined cellular and humoral immune defects with granulomas, and alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity.


central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.


acrocallosal syndrome

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.


Muckle-Wells syndrome

An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).


chromosome 8-derived supernumerary ring/marker

Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.


CLOVES syndrome

A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.


Amyloid Neuropathies

Neuropathy caused by amyloid deposition in the peripheral nerves.


familial amyloid neuropathy

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.


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

Catalysis of the reaction: (S)-malate + 1-O-sinapoyl-beta-D-glucose = D-glucose + sinapoyl (S)-malate.


negative regulation of voltage-gated sodium channel activity

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

Any process that stops, prevents or reduces the frequency, rate or extent of voltage-gated sodium channel activity.


regulation of sodium ion import across plasma membrane

Any process that modulates the frequency, rate or extent of sodium ion import across the plasma membrane.


regulation of P-type sodium:potassium-exchanging transporter activity

Any process that modulates the frequency, rate or extent of sodium:potassium-exchanging ATPase activity.


negative regulation of P-type sodium:potassium-exchanging transporter activity

Any process that stops, prevents or reduces the frequency, rate or extent of sodium:potassium-exchanging ATPase activity.


negative regulation of sodium ion export across plasma membrane

Any process that stops, prevents or reduces the frequency, rate or extent of sodium ion export across the plasma membrane.


negative regulation of sodium ion import across plasma membrane

Any process that stops, prevents or reduces the frequency, rate or extent of sodium ion import across the plasma membrane.


regulation of voltage-gated sodium channel activity

Any process that modulates the frequency, rate or extent of voltage-gated sodium channel activity.


positive regulation of sodium ion import across plasma membrane

Any process that activates or increases the frequency, rate or extent of sodium ion import across the plasma membrane.


negative regulation of calcium:sodium antiporter activity

Any process that stops, prevents or reduces the frequency, rate or extent of calcium:sodium antiporter activity.


positive regulation of voltage-gated sodium channel activity

Any process that activates or increases the frequency, rate or extent of voltage-gated sodium channel activity.


tRNA-guanine transglycosylation

The modification of a tRNA anticodon loop by replacing guanine with queuonine. Reaction is tRNA guanine + queuine = tRNA queuine + guanine.


Neonatal Graves' disease

Graves disease in the neonate resulting from transplacental passage of thyrotropin receptor antibody.


tendon of palmaris longus

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent


Astler-Coller C2 Rectal Carcinoma

Stage III includes: IIIA (T1-T2, N0, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0).  N1: Metastasis in 1 to 3 regional lymph nodes.  N2: Metastasis in 4 or more regional lymph nodes. (AJCC 6th ed.)


adult kidney Wilms tumor

Wilms tumor of the kidney which occurs in adults.


cysteine sulfinate desulfinase activity

Catalysis of the reaction: 3-sulfinoalanine = L-alanine + sulfite.


Sinonasal Mucosal Melanoma

Melanoma that arises from the mucosal surface of the nasal cavity and paranasal sinus.


Open fracture of shaft of metacarpal bone

A traumatic break in the diaphysis of the metacarpal bone that involves a break in the adjacent skin.


metaphyseal chondrodysplasia, Jansen type

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.


lateral superior deep cervical lymph node


deep lateral cervical lymph node

The deep lateral cervical lymph nodes are found near the upper part of the internal jugular vein in the neck, lateral or posterior to the carotid sheath.


inferior deep lateral cervical lymph node


superior deep lateral cervical lymph node


anterior superior deep cervical lymph node


lateral inferior deep cervical lymph node


anterior inferior deep cervical lymph node


mast cell apoptotic process

Any apoptotic process in a mast cell, a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation.


fascia of Scarpa

The deep layer (fascia of Scarpa) is a layer of the anterior abdominal wall.


abdominal segment connective tissue

A portion of connective tissue that is part of an abdominal segment of trunk [Automatically generated definition].


kidney capsule

The tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage.


perineal body

The perineal body (or central tendon of perineum) is a pyramidal fibromuscular mass in the middle line of the perineum at the junction between the urogenital triangle and the anal triangle. It is found in both males and females. In males, it is found between the bulb of penis and the anus; in females, is found between the vagina and anus, and about 1.25 cm in front of the latter. The perineal body is essential for the integrity of the pelvic floor, particularly in females. Its rupture during delivery leads to widening of the gap between the anterior free borders of levator ani muscle of both sides, thus predisposing the woman to prolapse of the uterus, rectum, or even the urinary bladder.


metanephric capsule

The metanephric capsule is the tough fibrous layer surrounding the metanephros, covered in a thick layer of perinephric adipose tissue. It provides some protection from trauma and damage[GO].


abdominal fascia

A fascia that is part of a abdomen.


renal fascia

A fascial pouch derived from extraperitoneal connective tissue that contains the kidneys, the suprarenal glands, the renal vessels and perirenal fat.


adipose tissue of abdominal region

Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots.


inguinal fat pad

Encapsulated adipose tissue found in the groin.


abdominal fat pad

The encapsulated adipose tissue in the abdomen.


subcutaneous abdominal adipose tissue

Subcutaneous adipose tissue that is located in the abdominal region.


pelvis connective tissue

A portion of connective tissue that is part of a pelvis [Automatically generated definition].


abdomen connective tissue

A portion of connective tissue that is part of an abdomen [Automatically generated definition].


omental fat pad

Encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon.


fascia of Camper

The superficial layer (fascia of Camper) is a thick superficial layer of the anterior abdominal wall. It is areolar in texture, and contains in its meshes a varying quantity of adipose tissue. It is found superficial to Scarpa's fascia.


retroperitoneal fat pad

Encapsulated adipose tissue found on the dorsal side of the peritoneum.


visceral abdominal adipose tissue

Subcutaneous adipose tissue that is located in the peritoneal cavity.


mesonephric capsule

The mesonephric capsule is the tough fibrous layer surrounding the mesonephros, covered in a thick layer of perinephric adipose tissue.


renal fat pad

Encapsulated adipose tissue associated with the kidney.


falciform fat

A large fat pad that is located at the base of the abdominal wall, in the falciform ligament of the liver.


negative regulation of cellotriose catabolic process

Any process that stops, prevents or reduces the frequency, rate or extent of cellotriose catabolic process.


inositol tetrakisphosphate 1-kinase activity

Catalysis of the reaction: 1D-myo-inositol 3,4,5,6-tetrakisphosphate + ATP = 1D-myo-inositol 1,3,4,5,6-pentakisphosphate + ADP.


phospholipase C-activating tachykinin receptor signaling pathway

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

A phospholipase C-activating receptor G protein-coupled receptor signaling pathway initiated by tachykinin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.


phospholipase C-activating adrenergic receptor signaling pathway

A phospholipase C-activating receptor G protein-coupled receptor signaling pathway initiated by ligand binding to an adrenergic receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.


phospholipase C-activating angiotensin-activated signaling pathway involved in heart process

An angiotensin-mediated signaling pathway that contributes to a circulatory system process carried out by the heart, where the activated receptor transmits the signal via Gq-mediated activation of phospholipase C (PLC). PLC hydrolyses phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers inositol-1,4,5,-triphosphate (IP3) and diacylglycerol (DAG). DAG activates protein kinase C (PKC), whilst IP3 binds intracellular receptors to induce the release of Ca2+ from intracellular stores.


phospholipase C-activating rhodopsin mediated signaling pathway

A phospholipase C-activating receptor G protein-coupled receptor signaling pathway initiated by a rhodopsin molecule being activated by a photon, and ending with the regulation of a downstream cellular process, e.g. transcription.


Placental Villous Fibrosis

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

Increased density of placental villous stroma, often with decreased capillarization compared to what would be expected for gestational age.


Placental hypertrophy

Aberrant growth of the placenta.


gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling

A wide pore channel activity that enables a direct cytoplasmic connection from an atrial cardiomyocyte to an AV node cell. The gap junction passes electrical signals between the cells contributing to cardiac conduction.


gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling

A wide pore channel activity that enables a direct cytoplasmic connection from a bundle of His cell to a Purkinje myocyte. The gap junction passes electrical signals between the cells contributing to cardiac conduction.


gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling

A wide pore channel activity that enables a direct cytoplasmic connection from an SA node cell to an atrial cardiomyocyte. The gap junction passes electrical signals between the cells contributing to cardiac conduction.


gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling

A wide pore channel activity that enables a direct cytoplasmic connection from a Purkinje myocyte to a ventricular cardiac muscle cell. The gap junction passes electrical signals between the cells contributing to cardiac conduction.


gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling

A wide pore channel activity that enables a direct cytoplasmic connection from an AV node cell to a bundle of His cell. The gap junction passes electrical signals between the cells contributing to cardiac conduction.


anatomical entity

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

Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species.


immaterial anatomical entity

Anatomical entity that has no mass.


disconnected anatomical group

Material anatomical entity consisting of multiple anatomical structures that are not connected to each other.


embryonic structure

Anatomical structure that is part of an embryo.


neuron projection bundle connecting eye with brain

A neuron projection bundle that connects the retina or its analog in the eye with the brain. This includes the vertebrate optic nerve (not truly a nerve) as well as analogous structures such as the Bolwig nerve in Drosophila.


anatomical system

Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function.


insect embryonic/larval digestive system


acellular anatomical structure

Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue.


non-connected functional system

An anatomical group whose component structures share a common function.


coelemic cavity lumen

The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities.


multi cell part structure

A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part.


material anatomical entity

Anatomical entity that has mass.


open tracheal system

An open tracheal system is a respiratory system, a branched network of epithelial tubes that supplies oxygen to target tissues via spiracles. An example of this is found in Drosophila melanogaster.


sensory nerve

A nerve that transmits from sensory receptors on the surface of the body to the central nervous system.


organism substance

Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body.


axon tract

A group of axons linking two or more neuropils and having a common origin, termination[FBbt].


neuron projection bundle

A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses.


anatomical structure

Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome.


insect supraesophageal ganglion

The pre-oral neuropils of the brain located above and some of it below the esophagus, comprising three fused ganglia (protocerebrum, deutocerebrum, and tritocerebrum) in the head.


anatomical cluster

Anatomical group whose component anatomical structures lie in close proximity to each other.


reproductive system

Anatomical system that has as its parts the organs concerned with reproduction.


insect embryonic/larval nervous system

Nervous system of the embryo/larva.


insect adult cerebral ganglion

The pre-oral neuropils of the adult brain located above, around and partially below the esophagus, including the optic lobes. It excludes the gnathal ganglion. Developmentally, it comprises three fused neuromeres: protocerebrum, deutocerebrum, and tritocerebrum.


pyrimidine nucleobase fermentation

The anaerobic conversion of pyrimidine nucleobases, yielding energy in the form of ATP.


interleukin-4 binding

Binding to interleukin-4.


Grade 3 Colon Adenocarcinoma

A colon adenocarcinoma characterized by the presence of a malignant cellular infiltrate with less than 50% glandular formation.


negative regulation of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate catabolic process

Any process that stops, prevents or reduces the frequency, rate or extent of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate catabolic process.


Catalysis of the reaction: 2-oxo-9-methylthiononanoate + acetyl-CoA + H2O <=> H+ + 2-(7'-methylthio)heptylmalate + coenzyme A.


striated duct of salivary gland

Gland duct which connects an intercalated duct to an interlobular duct in a salivary gland.


parotid gland striated duct

Any of the intralobular secretory duct of the parotid gland which connects an intercalated duct to an interlobular excretory duct; striated ducts are lined by cuboidal to columnar acidophilic cells and are so-named because of characteristic striations in the basal portions of the cells which are due to the alignment of mitochondria between deep infoldings of the basal cell membrane; the nucleus is in the central part of the cell above the striations; as they approach the excretory ducts, their diameter may exceed that of the acini; striated ducts reabsorb sodium and secrete potassium.


detection of low humidity stimulus involved in sensory perception

The series of events in which a low humidity stimulus is detected and converted into a molecular signal as a part of the sensory detection of low humidity.


cyanelle outer membrane

biolink:CellularComponent biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The outer, i.e. cytoplasm-facing, lipid bilayer of the cyanelle envelope.


disorder of glutamate decarboxylase

A disease that has its basis in the disruption of glutamate decarboxylase activity.


negative regulation of ethylene biosynthetic process

Any process that stops, prevents, or reduces the frequency, rate or extent of an ethylene biosynthetic process.


negative regulation of isoprene metabolic process

Any process that stops, prevents or reduces the frequency, rate or extent of isoprene metabolic process.


plant-type hypersensitive response

The rapid, localized death of plant cells in response to invasion by a pathogen.


programmed cell death induced by symbiont

Cell death resulting from activation of endogenous cellular processes after interaction with a symbiont (defined as the smaller of two, or more, organisms engaged in symbiosis, a close interaction encompassing mutualism through parasitism). This can be triggered by direct interaction with the organism, for example, contact with penetrating hyphae of a fungus; or an indirect interaction such as symbiont-secreted molecules.


mesonephros

The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo.


replication compartment

Globular nuclear domains where the transcription and replication of the viral genome occurs. More than one site can be present simultaneously.


nuclear viral factory

A viral factory located in the nucleus of a host cell.


peristromal region viral factory

A nuclear viral factory formed at the periphery of the host cell nucleus by Baculoviruses.


virogenic stroma

A nuclear viral factory formed by Baculoviruses. A vesicular structure in which virions are assembled.


positive regulation of timing of anagen

Any process that activates or increases the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle.


positive regulation of timing of exogen

Any process that activates or increases the frequency, rate or extent of timing of exogen, the shedding phase of the hair cycle.


tendon sheath lipoma

A benign tumor, composed of mature adipocytes, that arises within the tendon sheath.


benign synovial neoplasm

A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.


tenosynovial giant cell tumor, localized type

A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site.


tenosynovial giant cell tumor, diffuse type

A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.


intestinal hypomagnesemia 1

Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.


intercostal artery

One of a group of arteries that supply the area between the ribs ('costae'), called the intercostal space.


anterior intercostal artery

The anterior intercostal branches of internal thoracic artery supply the upper five or six intercostal spaces.


dorsal intercostal artery

The highest intercostal artery (supreme intercostal artery, superior intercostal artery) is an artery in the human body that usually gives rise to the first and second posterior intercostal arteries, which supply blood to their corresponding intercostal space. It usually arises from the costocervical trunk, which is a branch of the subclavian artery.


cellular response to tumor cell

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a tumor cell.


respiratory burst after phagocytosis

A phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.


respiratory burst involved in inflammatory response

A phase of elevated metabolic activity, during which oxygen consumption increases following a stimulus as part of an inflammatory response; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, resulting in an increase in their intracellular or extracellular levels.


(S)-Bopindolol

A 1-(tert-butylamino)-3-[(2-methyl-1H-indol-4-yl)oxy]propan-2-yl benzoate that has S-configuration.


positive regulation of early stripe melanocyte differentiation

Any process that activates or increases the frequency, rate or extent of early stripe melanocyte differentiation.


positive regulation of late stripe melanocyte differentiation

Any process that activates or increases the frequency, rate or extent of late stripe melanocyte differentiation.


Rifamycin

A member of the class of rifamycins that exhibits antibiotic and antitubercular properties.


imidazobenzazepine

Any organic heterotricyclic compound that consists of an imidazole ring ortho-fused to a benzazepine.


dibenzooxazepine

An organic heterotricyclic compound consisting of two benzene rings fused to a seven-membered ring containing one oxygen and one nitrogen atom.


organic heterotricyclic compound

An organic tricyclic compound in which at least one of the rings of the tricyclic skeleton contains one or more heteroatoms.


(+)-Ethopropazine

The (R)-enantiomer of profenamine.


phenazines

Any  organonitrogen heterocyclic compound based on a phenazine skeleton and derivatives.


(+)-Tetrabenazine

A 9,10-dimethoxy-3-isobutyl-1,3,4,6,7,11b-hexahydro-2H-pyrido[2,1-a]isoquinolin-2-one in which both stereocentres have R configuration.


(S)-aceprometazine

The (S)-enantiomer of aceprometazine.


Phenothiazine

The 10H-tautomer of phenothiazine.


Clopenthixol

A thioxanthene derivative having a chloro substituent at the 2-position and an alkylidene group at the 10-position with undefined double bond stereochemistry.


imidazobenzodiazepine

Any organic heterotricyclic compound that is any benzodiazepine which is ortho-fused with a imidazole.


psoralens

A furanocoumarin with a 7H-furo[3,2-g]chromen-7-one skeleton and its substituted derivatives thereof.


furanocoumarin

Any furochromene that consists of a furan ring fused with a coumarin. The fusion may occur in different ways in give several isomers.


(S)-etodolac

The S-enantiomer of etodolac. It is a preferential inhibitor of cyclo-oxygenase 2 and a non-steroidal anti-inflammatory, whereas the enantiomer, (R)-etodolac, is inactive. The racemate is commonly used for the treatment of rheumatoid arthritis and osteoarthritis, and for the alleviation of postoperative pain.


(R)-Carprofen

The (R)-(-)-enantomer of carprofen.


The (S)-(+)-enantiomer of carprofen.


pyranobenzodioxin

Any organic heterotricyclic compound whose core skeleton consists of a benzodioxin ring that is ortho-fused to a pyran ring.


Aceprometazine, (R)-

The (R)-enantiomer of aceprometazine.


pyridochromene

An organic heterotricyclic compound composed of a pyridine ring fused to a chromene.


(R)-Etodolac

The R-enantiomer of etodolac. It is inactive, in contrast to the enantiomer, (S)-etodolac, which is a preferential inhibitor of cyclo-oxygenase 2 and a non-steroidal anti-inflammatory. The racemate is commonly used for the treatment of rheumatoid arthritis and osteoarthritis, and for the alleviation of postoperative pain.


A 9,10-dimethoxy-3-isobutyl-1,3,4,6,7,11b-hexahydro-2H-pyrido[2,1-a]isoquinolin-2-one in which both stereocentres have S configuration.


Acridines which are substituted in any position by one or more amino groups or substituted amino groups. Note that the term 'aminoacridine' is the International Prorietary Name (INN) for 9-aminoacridine.


benzoquinolizine

Any organic heterotricyclic compound with a skeleton consisting of a quinolizine fused to a benzene ring.


dipyridodiazepine

An organic heterotricyclic compound whose skeleton consists of a diazepine ring which is fused to two pyridine rings.


flavin

A derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione) skeleton, with a substituent on the 10 position.


pyridobenzodiazepine

Any three-ring heterocyclic compound with a skeleton consisting of a pyridine ring ortho-fused to a benzodiazepine.


A thioxanthene derivative having a trifluoromethyl substituent at the 2-position and a 3-(4-(2-hydroxyethyl)piperazin-1-yl)propylidene group at the 10-position with undefined double bond stereochemistry.


(S)-ethopropazine

The (S)-enantiomer of profenamine.


triazolobenzodiazepine

Any organic heterotricyclic compound that is any benzodiazepine which is ortho-fused with a triazole.


thioxanthenes

Thioxanthene and its substitution derivatives.


oxazinoquinoline

Any organic heterotricyclic compound based on a skeleton comprised of an oxazine ring fused onto a quinoline system.


Functioning Lung Carcinoid Tumor

A lung carcinoid tumor that is associated with carcinoid syndrome.


alpha1-beta1 integrin-tyrosine-protein phosphatase non-receptor type 2 complex

A protein complex that consists of an alpha1-beta1 integrin complex bound to tyrosine-protein phosphatase non-receptor type 2.


Catalysis of the reaction: 1-18:2-2-18:2-digalactosyldiacylglycerol + O2 + a reduced electron acceptor <=> 1-18:3-2-18:2-digalactosyldiacylglycerol + 2 H2O + an oxidized electron acceptor.


hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.


skin of knee

A zone of skin that is part of a knee [Automatically generated definition].


ventral mesentery of mesentery of foregut-midgut junction


mesentery of foregut-midgut junction

A mesentery that is part of a foregut-midgut junction.


dorsal mesentery of mesentery of foregut-midgut junction


rhizobactin 1021 biosynthetic process

The chemical reactions and pathways resulting in the formation of rhizobactin 1021, (E)-4-((3-(acetylhydroxyamino)propyl)-amino)-2-hydroxy-(2-(2-(3-(hydroxy(1-oxo-2-decenyl)amino)propyl)amino)-2-oxoethyl)-4-oxobutanoic acid, a siderophore produced by Sinorhizobium meliloti.


tertiary alcohol metabolic process

The chemical reactions and pathways involving tertiary alcohol.


rhizobactin 1021 metabolic process

The chemical reactions and pathways involving rhizobactin 1021, (E)-4-((3-(acetylhydroxyamino)propyl)-amino)-2-hydroxy-(2-(2-(3-(hydroxy(1-oxo-2-decenyl)amino)propyl)amino)-2-oxoethyl)-4-oxobutanoic acid, a siderophore produced by Sinorhizobium meliloti.


cis-abienol biosynthetic process

The chemical reactions and pathways resulting in the formation of cis-abienol.


tetracenomycin C catabolic process

The chemical reactions and pathways resulting in the breakdown of tetracenomycin C.


tetracenomycin C metabolic process

The chemical reactions and pathways involving tetracenomycin C.


neosartoricin biosynthetic process

The chemical reactions and pathways resulting in the formation of neosartoricin.


paxilline biosynthetic process

The chemical reactions and pathways resulting in the formation of paxilline, a mycotoxin that acts as an inhibitor of mammalian maxi-K channels.


rhodopsin catabolic process

The chemical reactions and pathways resulting in the breakdown of rhodopsin, a brilliant purplish-red, light-sensitive visual pigment found in the rod cells of the retinas.


asperfuranone catabolic process

The chemical reactions and pathways resulting in the breakdown of asperfuranone.


viridicatumtoxin biosynthetic process

The chemical reactions and pathways resulting in the formation of viridicatumtoxin, a tetracycline-like fungal meroterpenoid with a unique, fused spirobicyclic ring system.


neosartoricin metabolic process

The chemical reactions and pathways involving neosartoricin.


asperfuranone biosynthetic process

The chemical reactions and pathways resulting in the formation of asperfuranone.


tetracenomycin C biosynthetic process

The chemical reactions and pathways resulting in the formation of tetracenomycin C.


tertiary alcohol biosynthetic process

The chemical reactions and pathways resulting in the formation of tertiary alcohol.


cis-abienol metabolic process

The chemical reactions and pathways involving cis-abienol.


cis-abienol catabolic process

The chemical reactions and pathways resulting in the breakdown of cis-abienol.


neosartoricin catabolic process

The chemical reactions and pathways resulting in the breakdown of neosartoricin.


paraherquonin biosynthetic process

The chemical reactions and pathways resulting in the formation of paraherquonin, a meroterpenoid with a unique, highly congested hexacyclic molecular architecture.


asperfuranone metabolic process

The chemical reactions and pathways involving asperfuranone.


multiple mitochondrial dysfunctions syndrome 6


inborn organic aciduria

An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.


3-hydroxyisobutyric aciduria

3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.


glutaric acidemia type 3

Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.


Canavan disease

A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.


aminoacylase 1 deficiency

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.


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.


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.


3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.


methylmalonic aciduria, cblB type

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.


methylmalonate semialdehyde dehydrogenase deficiency


maple syrup urine disease type 1A

A maple syrup urine disease caused by mutations in BCKDHA.


methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.


thiamine-responsive maple syrup urine disease

Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.


inherited fatty acid metabolism disorder

A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.


multiple carboxylase deficiency

Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.


fatal multiple mitochondrial dysfunctions syndrome

Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.


malonic aciduria

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).


methylmalonic aciduria and homocystinuria

An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).


disorder of fatty acid oxidation and ketogenesis


inherited lipoic acid biosynthesis defect

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


vitamin B12-unresponsive methylmalonic acidemia type mut0

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.


HSD10 mitochondrial disease

A rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.


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.


cerebral organic aciduria

A inherited organic acidemia that involves the brain.


isovaleric acidemia

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.


maple syrup urine disease

An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.


mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency

An autosomal recessive condition caused by mutation(s) in the ECHS1 gene, encoding enoyl-CoA hydratase, mitochondrial. The condition represents a clinical spectrum in which there are multiple phenotypes.


methylmalonic aciduria, cblA type

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.


methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

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


medium chain acyl-CoA dehydrogenase deficiency

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.


d-2-hydroxyglutaric aciduria 2

Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.


combined malonic and methylmalonic acidemia

Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.


methylmalonic acidemia with homocystinuria, type cblX


HSD10 disease, infantile type

HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age.


3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.


methylmalonic aciduria and homocystinuria type cblD

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.


severe Canavan disease

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


Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.


3-methylglutaconic aciduria type 5

A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.


3-methylglutaconic aciduria type 3

3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.


D-2-hydroxyglutaric aciduria 1

Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.


mild Canavan disease

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


beta-ketothiolase deficiency

Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.


maple syrup urine disease type 1B

A maple syrup urine disease caused by mutations in BCKDHB.


intermediate maple syrup urine disease

Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.


methylmalonic aciduria and homocystinuria type cblF

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.


methylmalonic aciduria and homocystinuria type cblC

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.


systemic primary carnitine deficiency disease

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


intermittent maple syrup urine disease

Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.


3-methylcrotonyl-CoA carboxylase 1 deficiency

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.


inborn aminoacylase deficiency

An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity.


3-methylglutaconic aciduria type 1

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.


multiple mitochondrial dysfunctions syndrome 7


multiple mitochondrial dysfunctions syndrome 5


3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.


3-methylglutaconic aciduria type 4

3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterized by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).


3-methylcrotonyl-CoA carboxylase 2 deficiency

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.


transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.


methylmalonic acidemia due to transcobalamin receptor defect

Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.


multiple mitochondrial dysfunctions syndrome 1

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.


multiple mitochondrial dysfunctions syndrome 2

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.


D,L-2-hydroxyglutaric aciduria

D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.


multiple mitochondrial dysfunctions syndrome 4

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.


classic maple syrup urine disease

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.


methylmalonic acidemia with homocystinuria, type cblJ

An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the ABCD4 gene, encoding lysosomal cobalamin transporter ABCD4.


glutaryl-CoA dehydrogenase deficiency

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.


multiple mitochondrial dysfunctions syndrome 3

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.


maple syrup urine disease type 2

A maple syrup urine disease caused by mutations in DBT.


short chain acyl-CoA dehydrogenase deficiency

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.


acyl-CoA dehydrogenase 9 deficiency

A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.


vitamin B12-unresponsive methylmalonic acidemia type mut-

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.


3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.


dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities


vitamin B12-responsive methylmalonic acidemia

Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).


vitamin B12-responsive methylmalonic acidemia, type cblDv2


carnitine palmitoyl transferase 1A deficiency

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.


Hub1 activating enzyme activity

Catalysis of the activation of the small ubiquitin-related modifier Hub1, through the formation of an ATP-dependent high-energy thiolester bond.


sulfopyruvate decarboxylase activity

Catalysis of the reaction: 3-sulfopyruvate + H+ = CO2 + sulfoacetaldehyde.


optic nerve formation

The process that gives rise to the optic nerve. This process pertains to the initial formation of a structure from unspecified parts. The sensory optic nerve originates from the bipolar cells of the retina and conducts visual information to the brainstem. The optic nerve exits the back of the eye in the orbit, enters the optic canal, and enters the central nervous system at the optic chiasm (crossing) where the nerve fibers become the optic tract just prior to entering the hindbrain.


Unresectable Pleural Sarcomatoid Mesothelioma

Pleural sarcomatoid mesothelioma that is not amenable to surgical resection.


Pleural Desmoplastic Mesothelioma

Malignant mesothelioma that arises from the pleura. It is characterized by the presence of dense collagenized stroma occupying at least 50% of the tumor. The malignant cells are arranged in a vague storiform pattern.


Unresectable Peritoneal Epithelioid Mesothelioma

Peritoneal epithelioid mesothelioma that is not amenable to surgical resection.


Unresectable Paratesticular Sarcomatoid Mesothelioma

Paratesticular sarcomatoid mesothelioma that is not amenable to surgical resection.


Paratesticular Epithelioid Mesothelioma

A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.


Desmoplastic mesothelioma

A malignant neoplasm arising from mesothelial cells. It is characterized by the presence of a dense collagenous tissue and atypical neoplastic cells. Sarcomatoid features, collagenous necrosis, and infiltration of muscle and adipose tissue may be present. It occurs in the pleura and less commonly in the peritoneum.


Peritoneal Epithelioid Mesothelioma

Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.


malignant biphasic mesothelioma

A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features.


Unresectable Paratesticular Epithelioid Mesothelioma

Paratesticular epithelioid mesothelioma that is not amenable to surgical resection.


Peritoneal Biphasic Mesothelioma

Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.


Unresectable Pleural Biphasic Mesothelioma

Pleural biphasic mesothelioma that is not amenable to surgical resection.


Unresectable Paratesticular Biphasic Mesothelioma

Paratesticular biphasic mesothelioma that is not amenable to surgical resection.


Paratesticular Sarcomatoid Mesothelioma

A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.


Unresectable Peritoneal Sarcomatoid Mesothelioma

Peritoneal sarcomatoid mesothelioma that is not amenable to surgical resection.


pleural biphasic mesothelioma

Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.


Advanced Epithelioid Mesothelioma

Epithelioid mesothelioma that has spread extensively to other anatomic sites or is no longer responding to treatment.


sarcomatoid mesothelioma

A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.


pleural sarcomatoid mesothelioma

Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma.


Paratesticular Biphasic Mesothelioma

A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.


Unresectable Pleural Epithelioid Mesothelioma

Pleural epithelioid mesothelioma that is not amenable to surgical resection.


Recurrent Epithelioid Mesothelioma

The reemergence of epithelioid mesothelioma after a period of remission.


pleural epithelioid mesothelioma

Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.


Unresectable Peritoneal Biphasic Mesothelioma

Peritoneal biphasic mesothelioma that is not amenable to surgical resection.


Peritoneal Sarcomatoid Mesothelioma

Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.


malignant epithelioid mesothelioma

A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity.


antigen processing and presentation initiated by pattern recognition receptor mediated uptake of antigen

Antigen processing and presentation which is initiated by uptake of antigen bound to a cell surface pattern recognition receptor (PRR).


negative regulation of mast cell proliferation

Any process that stops, prevents or reduces the rate or extent of mast cell proliferation.


oculocutaneous albinism type 4

Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.


embryonic heart tube dorsal/ventral pattern formation

The regionalization process in which the areas along the dorsal/ventral axis of the embryonic heart tube are established. This process will determine the patterns of cell differentiation along the axis.


lateral line nerve development

The process whose specific outcome is the progression of the lateral line nerve over time, form its formation to the mature structure. Lateral line nerves project primarily to an octavolateralis column in the hindbrain that consists of the medial octavolateralis nucleus (MON), the caudal octavolateralis nucleus, and the magnocellular nucleus.


posterior lateral line nerve development

The process whose specific outcome is the progression of the posterior lateral line nerve over time, from its formation to the mature structure. The posterior lateral line nerve innervates hair cells of the PLL and projects to an octavolateralis column in the hindbrain that consists of the medial octavolateralis nucleus (MON), the caudal octavolateralis nucleus, and the magnocellular nucleus.


anterior lateral line nerve development

The process whose specific outcome is the progression of the anterior lateral line nerve over time, form its formation to the mature structure. The anterior lateral line nerve contains efferent axons that innervate hair cells of the ALL and afferent axons that project to an octavolateralis column in the hindbrain. The octavolateralis column consists of the medial octavolateralis nucleus (MON), the caudal octavolateralis nucleus, and the magnocellular nucleus.


spleen trabecula formation

The process of creating a trabecula in the spleen. A trabecula is a tissue element in the form of a small beam, strut or rod.


liver trabecula formation

The process of creating a trabecula in the liver. A trabecula is a tissue element in the form of a small beam, strut or rod.


guanylate cyclase inhibitor activity

Binds to and stops, prevents or reduces the activity of guanylate cyclase.


molecular function regulator activity

A molecular function regulator regulates the activity of its target via non-covalent binding that does not result in covalent modification to the target. Examples of molecular function regulators include regulatory subunits of multimeric enzymes and channels. Mechanisms of regulation include allosteric changes in the target and competitive inhibition.


acetylglutamate kinase regulator activity

Binds to and modulates the activity of acetylglutamate kinase.


channel activator activity

Direct interaction with a channel (binding or modification), resulting in its opening. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel.


gonadotropin hormone-releasing hormone activity

The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary.


inositol phosphoceramide synthase regulator activity

Binds to and modulates the activity of inositol phosphoceramide synthase.


histone methyltransferase inhibitor activity

Binds to and stops, prevents or reduces the activity of a histone methyltransferase.


transmembrane receptor protein tyrosine kinase inhibitor activity

Binds to and stops, prevents or reduces the activity of a transmembrane receptor protein tyrosine kinase.


chemoattractant activity involved in axon guidance

Any chemoattractant activity that is involved in axon guidance.


RNA polymerase inhibitor activity

Binds to and stops, prevents or reduces the activity of RNA polymerase.


eclosion hormone activity

The action characteristic of eclosion hormone, a peptide hormone that, upon receptor binding, triggers the death of certain muscles and neurons during insect metamorphosis.


pseudophosphatase activity

Maintains the phosphorylation state of certain molecules by associating with them and preventing them from associating with active phosphatases, and thus inhibiting the enzyme activity without interacting with the enzyme. Often pertains to proteins belonging to dual-specificity phosphatase family but lacking critical active site residues.


cyclin-dependent protein kinase activating kinase activity

Catalysis of the reaction: ATP + a protein = ADP + a phosphoprotein; increases the activity of a cyclin-dependent protein kinase (CDK).


phosphatidylinositol 3-kinase activator activity

Binds to and increases the activity of a phosphatidylinositol 3-kinase (PI3K).


peroxidase inhibitor activity

Binds to and stops, prevents or reduces the activity of peroxidase.


urease activator activity

Increases the activity of urease by promoting the incorporation of nickel into the active site.


phosphatidylinositol 3-kinase inhibitor activity

Binds to and decreases the activity of a phosphatidylinositol 3-kinase (PI3K).


melanin-concentrating hormone activity

The action characteristic of melanin-concentrating hormone, a cyclic peptide hormone that, upon receptor binding, induces melanin aggregation in melanocytes, and is also involved in regulating food intake and energy balance in mammals.


digestive hormone activity

The action characteristic of a hormone that takes part in the digestion process.


DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) inhibitor activity

Binds to and stops, prevents or reduces the activity of ATP-hydrolyzing DNA topoisomerase. ATP-hydrolyzing DNA topoisomerase catalyzes the DNA topological transformation by transiently cleaving a pair of complementary DNA strands to form a gate through which a second double-stranded DNA segment is passed, after which the severed strands in the first DNA segment are rejoined; product release is coupled to ATP binding and hydrolysis; changes the linking number in multiples of 2.


adenylate cyclase regulator activity

Binds to and modulates the activity of adenylate cyclase.


Binds to and increases the activity of an endodeoxyribonuclease.


tyrosine 3-monooxygenase activator activity

Binds to and increases the activity of tyrosine 3-monooxygenase (tyrosine hydroxylase).


mating pheromone activity

The activity of binding to and activating specific cell surface receptors, thereby inducing a behavioral or physiological response(s) from a responding organism or cell that leads to the transfer or union of genetic material between organisms or cells. The mating pheromone can either be retained on the cell surface or secreted.


tryptophan hydroxylase activator activity

Increases the activity of the enzyme tryptophase hydroxylase.


glutamate-cysteine ligase regulator activity

Binds to and modulates the activity of glutamate-cysteine ligase.


ligase inhibitor activity

Binds to and stops, prevents or reduces the activity of a ligase.


melanocyte-stimulating hormone activity

The action characteristic of melanocyte-stimulating hormone, any of three peptide hormones that are produced by the intermediate lobe of the pituitary gland and, upon receptor binding, cause dispersal of melanosomes in melanophores of poikilothermic vertebrates.


aldehyde dehydrogenase (NAD+) inhibitor activity

Binds to and stops, prevents or reduces the activity of aldehyde dehydrogenase (NAD+).


[pyruvate dehydrogenase (lipoamide)] phosphatase regulator activity

Binds to and modulates of the activity of [pyruvate dehydrogenase (lipoamide)] phosphatase.


myoinhibitory hormone activity

The action characteristic of myostimulatory hormone, a peptide hormone that inhibits muscle contraction.


phospholipase D activator activity

Binds to and increases the activity of the enzyme phospholipase D.


polynucleotide adenylyltransferase activator activity

Increases the activity of the enzyme polynucleotide adenylyltransferase.


acetylcholine receptor inhibitor activity

Binds to and stops, prevents or reduces the activity of an acetylcholine receptor.


phospholipase D inhibitor activity

Binds to and stops, prevents or reduces the activity of phospholipase D.


receptor signaling protein tyrosine kinase inhibitor activity

Stops, prevents or reduces the activity of a receptor signaling protein tyrosine kinase.


prothoracicotrophic hormone activity

The action characteristic of prothoracicotrophic hormone, a peptide hormone that is secreted by the brain and, upon receptor binding, acts on the prothoracic gland to stimulate the release of ecdysone in insects.


follicle-stimulating hormone activity

The action characteristic of follicle-stimulating hormone (FSH), a gonadotrophic glycoprotein hormone secreted, in mammals, by the anterior pituitary gland. Upon receptor binding, FSH stimulates growth of Graafian follicles in the ovaries in females, and stimulates the epithelium of the seminiferous tubules to increase spermatogenesis.


methionine adenosyltransferase regulator activity

Binds to and modulates the activity of methionine adenosyltransferase.


cyclin-dependent protein kinase activating kinase regulator activity

Modulation of the activity of the enzyme cyclin-dependent protein kinase activating kinase.


deubiquitinase activator activity

Binds to and increases the activity of a deubiquitinase.


pituitary adenylate cyclase activating polypeptide activity

The action characteristic of pituitary adenylate cyclase activating polypeptide, a peptide produced in the hypothalamus that binds to receptors to exert pleiotropic effects including control of neurotransmitter release, vasodilation, bronchodilation, activation of intestinal motility, increase in insulin and histamine secretion, immune modulation, and stimulation of cell proliferation and differentiation.


adenylate cyclase inhibitor activity

Binds to and decreases the activity of adenylate cyclase.


cysteine-type endopeptidase activator activity

Binds to and increases the activity of a cysteine-type endopeptidase.


ubiquitin ligase activator activity

Binds to and increases the activity of a ubiquitin ligase.


guanyl nucleotide exchange factor inhibitor activity

Binds to and stops, prevents or reduces the activity of a guanyl nucleotide exchange factor.


competence pheromone activity

A small peptide excreted by a naturally transformable bacterium (e.g. Bacillus subtilis) that transmits a signal required for the establishment of competence.


death receptor agonist activity

Interacting with a death receptor such that the proportion of death receptors in an active form is increased. Ligand binding to a death receptor often induces a conformational change to activate the receptor.


DNA strand exchange activator activity

Binds to and increases a DNA strand exchange activity.


miRNA inhibitor activity via base-pairing

Stops, prevents or reduces the activity of miRNA-mediated gene silencing activity by base-pairing with a target miRNA. An example of this activity is mediated by long non-coding RNAs (lncRNAs).


L-dopa decarboxylase activator activity

Interacts with and increases L-dopa decarboxylase activity.


Increases the activity of a single-stranded DNA endodeoxyribonuclease activator activity.


growth hormone activity

The action characteristic of growth hormone, a peptide hormone that is secreted by the anterior pituitary or the placenta into the circulation, and binds to membrane receptors in target tissues to stimulate body growth.


ribulose-1,5-bisphosphate carboxylase/oxygenase activator activity

Binds to and iincreases the activity of rubisco by the removal of otherwise inhibitory sugar phosphates: RuBP, and in some plants, 2-carboxyarabinitol 1-phosphate.


UTP:glucose-1-phosphate uridylyltransferase regulator activity

Binds to and modulates the activity of UTP:glucose-1-phosphate uridylyltransferase.


molecular function activator activity

A molecular function regulator that activates or increases the activity of its target via non-covalent binding that does not result in covalent modification to the target.


receptor signaling protein tyrosine kinase activator activity

Binds to and increases the activity of a receptor signaling protein tyrosine kinase.


pathogen-derived receptor ligand activity

The activity of a pathogen-derived entity that interacts with a host receptor to activate effector-triggered immunity.


cyclic nucleotide phosphodiesterase activator activity

Binds to and increases the activity of cyclic nucleotide phosphodiesterase.


cyclin-dependent protein serine/threonine kinase activator activity

Binds to and increases the activity of a cyclin-dependent protein serine/threonine kinase.


acetylcholine receptor activator activity

Interacting (directly or indirectly) with acetylcholine receptors such that the proportion of receptors in the active form is increased.


endoribonuclease inhibitor activity

Binds to and stops, prevents or reduces the activity of endoribonuclease.


RNA helicase inhibitor activity

Binds to and stops, prevents or reduces the activity of an RNA helicase.


potassium channel activator activity involved in G protein-coupled receptor signaling pathway

Activation potassium ion channel activity via direct interaction with a potassium ion channel during G protein-coupled receptor signaling.


ornithine carbamoyltransferase inhibitor activity

Binds to and stops, prevents, or reduces the activity of ornithine carbamoyltransferase.


pectinesterase inhibitor activity

Binds to and stops, prevents or reduces the activity of pectinesterase.


eukaryotic elongation factor-2 kinase regulator activity

Modulates the activity of the enzyme eukaryotic elongation factor-2 kinase.


ion channel regulator activity

Modulates the activity of a channel via direct interaction with it. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel.


myosin phosphatase regulator activity

Binds to and modulates of the activity of myosin phosphatase.


exoribonuclease activator activity

Binds to and increases the activity of an exoribonuclease.


ecdysis-triggering hormone activity

The action characteristic of ecdysis-triggering hormone, a peptide hormone that, upon receptor binding, initiates pre-ecdysis and ecdysis (i.e. cuticle shedding) through direct action on the central nervous system.


GTP cyclohydrolase I regulator activity

Binds to and modulates the activity of GTP cyclohydrolase I. GTP cyclohydrolase I activity catalyzes the reaction: GTP + 2 H2O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate.


mRNA phosphatase activator activity

Binds to and increases the activity of mRNA phosphatase.