baker Vinters syndrome

description: A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.


idiopathic avascular necrosis

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


monieziasis

description: Infection of ruminants with tapeworms of the genus Moniezia.


acute myeloid leukemia, Monosomy 7

description: Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)


lumpy skin disease

description: A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.


hypotrichosis 13

description: Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.


temtamy preaxial brachydactyly syndrome

description: An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.


benign neoplasm of soft palate

description: A benign neoplasm that involves the soft palate.


name: neuropathy, hereditary motor and sensory, type 6B

description: Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.


hypercalcemia, infantile, 2

description: Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.


atrophoderma of Pierini and Pasini

description: Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.


name: autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the DYNC1H1 gene, encoding cytoplasmic dynein 1 heavy chain 1.


developmental disorder of mental health

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


name: Charcot-Marie-Tooth disease axonal type 2X

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.


isolated transitional filum lipoma

description: A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma.


name: acute myeloid leukemia with t(9;11)(p22;q23)


name: congenital generalized lipodystrophy type 3

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.


columnar cell hyperplasia of the breast

description: A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.


annular epidermolytic ichthyosis

description: Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.


vitreous disorder

description: A disease involving the vitreous humor.


intellectual disability, X-linked 63

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.


orofacial cleft 10

description: Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.


Wissler syndrome

description: A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.


inborn serine deficiency

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


name: neuronopathy, distal hereditary motor, type 2C

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.


uterine cervix neoplasm

description: A neoplasm (disease) that involves the uterine cervix.


name: autosomal recessive nonsyndromic hearing loss 63

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene.


name: intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly


olfactory nerve disorder

description: A disease involving the olfactory nerve.


auditory system benign neoplasm

description: A sensory system benign neoplasm that is located in the auditory system.


Actinomycetales infectious disease

description: Infections with bacteria of the order actinomycetales.


name: autosomal recessive limb-girdle muscular dystrophy type R18

description: A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.


name: neuronopathy, distal hereditary motor, type 7B

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.


hereditary skeletal muscle disorder

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


orbit sarcoma

description: A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.


subaortic course of innominate vein

description: Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.


name: intellectual developmental disorder, autosomal recessive 71


name: holoprosencephaly 12 with or without pancreatic agenesis


infantile apnea

description: Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.


description: Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.


name: mitochondrial complex IV deficiency, nuclear-type


myotonia fluctuans

description: Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.


name: childhood-onset benign chorea with striatal involvement


name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

description: A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: anterior cutaneous nerve entrapment syndrome

description: Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.


Marinesco-Sjogren syndrome

description: Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.


platelet-type bleeding disorder 19

description: Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.


mansonelliasis

description: A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.


anterior pituitary gland disorder

description: A disease that involves the adenohypophysis.


hereditary spastic paraplegia 13

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.


heterotaxy, visceral, 8, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.


vagus nerve disorder

description: A disease involving the vagus nerve.


name: neurodevelopmental disorder with ataxia, hypotonia, and microcephaly


Blount disease

description: Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.


janus kinase-3 deficiency

description: Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.


name: symptomatic form of fragile X syndrome in female carrier


acquired angioedema type 2

description: Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


name: familial adenomatous polyposis due to 5q22.2 microdeletion


name: disorder of thiamine metabolism and transport


hereditary hyperbilirubinemia

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


name: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

description: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.


name: hypogonadotropic hypogonadism 6 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.


bird headed-dwarfism, Montreal type

description: Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.


aorta angiosarcoma

description: A malignant vascular neoplasm arising from the aorta.


basaloid follicular hamartoma

description: A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.


kidney benign neoplasm

description: A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.


name: patterned dystrophy of the retinal pigment epithelium


name: intellectual disability, autosomal recessive 65


angiomatous meningioma

description: A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.


premature ovarian failure 7

description: Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.


cutaneous mycosis

description: A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.


name: neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia


name: childhood acute megakaryoblastic leukemia

description: An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.


pediatric liposarcoma

description: A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.


ulna metaphyseal dysplasia syndrome

description: Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.


variant Creutzfeldt-Jakob disease

description: A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.


echinococcosis

description: A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.


name: facioscapulohumeral muscular dystrophy 2

description: Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.


name: autosomal recessive spastic paraplegia type 68


Leber congenital amaurosis 16

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.


genito-palato-cardiac syndrome

description: Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.


name: isolated growth hormone deficiency, type 5


name: autosomal recessive palmoplantar keratoderma and congenital alopecia

description: Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.


marasmus

description: The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.


name: X-linked intellectual disability, Sutherland-Haan type


hereditary spastic paraplegia 35

description: Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.


name: syndromic X-linked intellectual disability Nascimento type

description: X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.


Sagliker syndrome

description: A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face


name: late infantile neuronal ceroid lipofuscinosis

description: A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.


Cole-Carpenter syndrome 1

description: Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.


name: chromosome 15q13.3 microdeletion syndrome

description: 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.


atrial septal defect 3

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.


immune system cancer

description: A malignant neoplasm involving the immune system


name: X-linked intellectual disability, Schutz type


thyroid dyshormonogenesis 3

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.


poliovirus infection

description: An disease or disorder caused by infection with Enterovirus C.


brachyolmia, Maroteaux type

description: Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.


congenital myasthenic syndrome 3C

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.


name: intellectual disability, autosomal dominant 52


name: intellectual disability, autosomal recessive 23


corticobasal degeneration disorder

description: A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.


white piedra

description: A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts.


description: Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.


name: generalized galactose epimerase deficiency


congenital myasthenic syndrome 2A

description: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.


pyruvate dehydrogenase deficiency

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


benign shuddering attacks

description: Uncommon, involuntary movements of the head and upper extremities resembling shivering and straining seen in infants and children during normal activities and without impaired consciousness or epileptiform electroencephalogram (EEG).  Resolution or improvement by age 2 or 3 is often noted.


Bartholin gland neoplasm

description: A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.


B cell linker protein deficiency

description: A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.


torsion dystonia 2

description: Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.


name: hypogonadotropic hypogonadism 23 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.


delusional disorder

description: A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).


adult myxoid chondrosarcoma

description: A myxoid chondrosarcoma occurring in adults.


name: autosomal recessive cerebellar ataxia-blindness-deafness syndrome


Becker muscular dystrophy

description: Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.


description: This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.


name: acute myeloid leukemia, inv(3)(q21.3;q26.2)

description: Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


eyelid neoplasm

description: A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.


D-2-hydroxyglutaric aciduria 1

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


polyclonal hypergammaglobulinemia

description: A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.


Queensland tick typhus

description: A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy.


Bacteroidaceae infectious disease

description: Infections with bacteria of the family BACTEROIDACEAE.


name: malignant mixed epithelial and mesenchymal tumor of cervix uteri


renal tubular transport disease

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


acquired factor VII deficiency

description: An acquired coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood.


name: early-onset immune dysregulation due to DOCK11 complete deficiency


acquired coagulation factor deficiency

description: Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.


tinea barbae

description: A dermatophytosis that involves the beard.


name: EGF-related primary hypomagnesemia with intellectual disability


name: autosomal recessive nonsyndromic hearing loss 27

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.


name: COG8-congenital disorder of glycosylation

description: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.


lesion of sciatic nerve

description: A peripheral nerve lesion that involves the sciatic nerve.


name: intellectual disability, autosomal recessive 13

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.


premature ovarian failure 9

description: Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.


exhibitionism

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.


grade III lymphomatoid granulomatosis

description: A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive.


Fanconi anemia complementation group R

description: Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.


decompression sickness

description: A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death.


familial hypoaldosteronism

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


name: hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature


salpingo-oophoritis

description: Inflammation of the fallopian tubes and ovaries.


ventricular septal defect 3

description: Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.


severe hemophilia A

description: Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


tricho-retino-dento-digital syndrome

description: Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.


name: acute disseminated encephalomyelitis without anti-MOG antibodies


hereditary nephritis

description: A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.


split hand-foot malformation 6

description: Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.


maxillary sinusitis

description: An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus.


xeroderma pigmentosum group A

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.


description: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.


myoclonic epilepsy of Lafora 2

description: Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 gene.


name: Y chromosome infertility due to DAZ1 deletion


name: neonatal severe primary hyperparathyroidism

description: Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.


name: progeroid and marfanoid aspect-lipodystrophy syndrome


5q35 microduplication syndrome

description: The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.


aortic aneurysm, familial thoracic 6

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.


name: neurodevelopmental disorder with dysmorphic facies and variable seizures


aleukemic leukemia

description: A leukemia characterized by the absence of leukemic cells in the peripheral blood.


Fanconi anemia complementation group Q

description: Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.


retinitis pigmentosa 18

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.


name: microcephaly 23, primary, autosomal recessive


Niemann-Pick disease, type C1

description: Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.


inherited thyroid metabolism disease

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


Adams-Oliver syndrome 1

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.


description: This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.


otorhinolaryngologic disease

description: Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.


organophosphate poisoning

description: A poisoning that is caused by exposure to organophosphate.


lacrimal duct cancer

description: A primary or metastatic malignant neoplasm affecting the lacrimal duct.


name: spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant


EEM syndrome

description: EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).


trochlear nerve neoplasm

description: A neoplasm involving a trochlear nerve.


hereditary spastic paraplegia 38

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.


lichen planopilaris

description: Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.


nasal cavity disorder

description: A disease involving the nasal cavity.


Actinobacillus infectious disease

description: Infections with bacteria of the genus actinobacillus.


distal trisomy 19q

description: Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.


name: Epstein-Barr virus-associated mesenchymal tumor


name: chronic inflammation of lacrimal passage


name: partial duplication of the long arm of chromosome 17


mitochondrial DNA depletion syndrome

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


glycoprotein metabolism disease

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


name: Pelizaeus-Merzbacher disease, classic form

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


polyp of frontal sinus

description: A polyp that involves the frontal sinus.


pontocerebellar hypoplasia type 1A

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.


name: immunodeficiency 63 with lymphoproliferation and autoimmunity


name: hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

description: This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.


disorder of organic acid metabolism

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


spinal muscular atrophy, type II

description: Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


name: developmental and epileptic encephalopathy, 12

description: An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.


trichodental syndrome

description: Trichodental syndrome is characterized by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.


Uner Tan Syndrome

description: A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.


splenic tuberculosis

description: Infection of the spleen with species of mycobacterium.


IgG4-related disease

description: A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.


familial thyroglossal duct cyst

description: Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.


periapical periodontitis

description: Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess.


anemia of prematurity

description: A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.


IRIDA syndrome

description: IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.


melanoacanthoma

description: A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.


erythrocytosis, familial, 4

description: Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.


coenzyme Q10 deficiency, primary, 3

description: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.


name: glycogen storage disease due to GLUT2 deficiency

description: Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.


OSLAM syndrome

description: OSLAM syndrome is characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia.


name: autoimmune lymphoproliferative syndrome type 2B

description: Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.


name: spinocerebellar ataxia, autosomal recessive 28


metabolic epilepsy

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


name: partial deletion of the long arm of chromosome 3


adenomatoid odontogenic tumor

description: A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.


name: nystagmus 2, congenital, autosomal dominant


name: peroxisome biogenesis disorder due to PEX12 defect

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


oocyte maturation defect 2

description: Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.


infantile glycine encephalopathy

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


congenital rubella syndrome

description: An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.


atactic disorder

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


name: anterior segment developmental abnormality with extraocular manifestations


name: MED12-related intellectual disability syndrome

description: An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.


infectious myositis

description: An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.


name: early-onset cerebellar ataxia with retained tendon reflexes

description: Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.


peeling skin syndrome 5

description: Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.


name: late-onset junctional epidermolysis bullosa

description: Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.


bladder benign neoplasm

description: A benign abnormal growth of the cells that comprise the bladder.


mesenchymoma

description: A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.


Joubert syndrome and related disorders

description: Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.


retinitis pigmentosa 61

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.


name: neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency


name: negative rheumatoid factor polyarthritis


name: factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor


isolated right ventricular hypoplasia

description: Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.


name: congenital disorder of glycosylation with defective fucosylation


mosaic trisomy 17

description: Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.


MERTK-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the MERTK gene.


name: autosomal dominant pseudohypoaldosteronism type 1

description: Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.


spinocerebellar ataxia type 5

description: Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.


xeroderma pigmentosum group F

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.


name: silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

description: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).


name: Charcot-Marie-Tooth disease, demyelinating, IIA 1H


main bronchus cancer

description: A malignant neoplasm involving the main bronchus.


African iron overload

description: African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.


name: testicular non-seminomatous germ cell tumor

description: A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms.


name: craniosynostosis cleft lip palate arthrogryposis


name: childhood testicular mixed germ cell cancer

description: A malignant mixed germ cell neoplasm that arises from the testis during childhood.


eosinophilic meningitis

description: Meningitis in which eosinophils predominate in the cerebrospinal fluid.


Cayman type cerebellar ataxia

description: Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.


name: autosomal recessive combined immunodeficiency due to partial IL6ST deficiency


name: spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type


mosaic variegated aneuploidy syndrome 1

description: Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.


name: acute myeloid leukemia with t(8;16)(p11;p13) translocation

description: A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.


name: mitochondrial myopathy with reversible cytochrome C oxidase deficiency


name: postlingual non-syndromic genetic hearing loss

description: Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed.


Circumscribed Morphea

description: A type of morphea in which the lesions are circular or ovoid, and may be superficial or deep. The superficial lesions can have an indurated, waxy, ivory colored center with surrounding erythema or violaceous color during the active stage. Deep lesions can be sclerotic and depressed from underlying atrophy, and may show minimal skin color changes. When there are several (greater than or equal to 4), larger (greater than 3cm) lesions on two or more body areas this is classified as "generalized morphea".


Plaque morphea

description: Circumscribed morphea in which the lesions are restricted to the skin and the immediately underlying subcutaneous tissues.


Deep Circumscribed Morphea

description: Circumscribed morphea in which the lesions are found in the deep dermis, panniculus, fascia, or superficial muscle.


N-malonyltransferase activity

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

description: Catalysis of the transfer of a malonyl group to a nitrogen atom on the acceptor molecule.


description: Catalysis of the reaction: 3,4-dichloroaniline + malonyl-CoA = N-(3,4-dichlorophenyl)malonamate + CoA.


description: Catalysis of the reaction: D-tryptophan + malonyl-CoA = N(2)-malonyl-D-tryptophan + CoA + H+.


description: Catalysis of the reaction: anthranilate + malonyl-CoA = N-malonylanthranilate + CoA.


name: Unresectable Skin Squamous Cell Carcinoma

description: Skin squamous cell carcinoma that is not amenable to surgical resection.


Unresectable Skin Carcinoma

description: Skin carcinoma that is not amenable to surgical resection.


Unresectable Skin Basal Cell Carcinoma

description: Basal cell carcinoma of the skin that is not amenable to surgical resection.


name: Unresectable Cutaneous Squamous Cell Carcinoma of the Head and Neck

description: Cutaneous squamous cell carcinoma of the head and neck that is not amenable to surgical resection.


name: peptidyl-lysine modification to peptidyl-N6-pyruvic acid 2-iminyl-L-lysine

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

description: The modification of peptidyl-lysine to form peptidyl-N6-pyruvic acid 2-iminyl-L-lysine.


cyclohexylamine oxidase activity

description: Catalysis of the reaction: cyclohexylamine + O2 + H2O = cyclohexanone + NH3 + hydrogen peroxide.


NEDD8 ligase activity

description: Catalysis of the transfer of NEDD8 to a substrate protein via the reaction X-NEDD8 + S = X + S-NEDD8, where X is either an E2 or E3 enzyme, the X-NEDD8 linkage is a thioester bond, and the S-NEDD8 linkage is an isopeptide bond between the C-terminal amino acid of NEDD8 and the epsilon-amino group of lysine residues in the substrate.


NEDD8 conjugating enzyme activity

description: Isoenergetic transfer of NEDD8 from one protein to another via the reaction X-NEDD8 + Y = Y-NEDD8 + X, where both the X-NEDD8 and Y-NEDD8 linkages are thioester bonds between the C-terminal amino acid of NEDD8 and a sulfhydryl side group of a cysteine residue.


description: Catalysis of the reaction: a flavanone + UDP-D-glucose = a flavanone 7-O-beta-D-glucoside + UDP.


name: Small Intestinal Small Cell Neuroendocrine Carcinoma

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


Actinomycetoma

description: A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by Actinomycetes bacteria.


nuclear cortisol receptor activity

description: Combining with cortisol and transmitting the signal within the cell to trigger a change in cell activity or function.


name: ligand-activated transcription activator activity

description: A DNA-binding transcription activator activity regulated by binding to a ligand and that activates the transcription of specific genes and gene sets.


name: G protein-coupled estrogen receptor activity

description: Combining with estrogen and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.


name: nuclear glucocorticoid receptor activity

description: Combining with a glucocorticoid and transmitting the signal within the cell trigger a change in cell activity or function.


bile acid nuclear receptor activity

description: A DNA-binding transcription factor activity regulated by binding to a bile acid that modulates the transcription of specific gene sets transcribed by RNA polymerase II.


name: ligand-activated transcription repressor activity

description: A DNA-binding transcription repressor activity regulated by binding to a ligand and that inhibits the transcription of specific genes and gene sets.


pyroglutamyl-peptidase activity

description: Catalysis of the release of the N-terminal pyroglutamyl group from a peptide or protein.


gamma-glutamyl-peptidase activity

description: Catalysis of the cleavage of a gamma-linked glutamate bond.


leukotriene-C(4) hydrolase

description: Catalysis of the reaction leukotriene C(4) + H2O= leukotriene D(4) + L-glutamate.


L-mimosine synthase activity

description: Catalysis of the reaction: 3,4-dihydroxypyridine + O-acetyl-L-serine = 3-(3,4-dihydroxypyridinium-1-yl)-L-alanine + acetate.


4-oxalmesaconate hydratase activity

description: Catalysis of the reaction: 2-hydroxy-4-oxobutane-1,2,4-tricarboxylate = (1E)-4-oxobut-1-ene-1,2,4-tricarboxylate + H2O.


CCU codon-amino acid adaptor activity

description: A triplet codon-amino acid adaptor activity that recognizes a CCU codon.


facial modiolus

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

description: A chiasma of facial muscles held together by fibrous tissue, located lateral and slightly superior to each angle of the mouth. It is important in moving the mouth, facial expression and in dentistry. It derives its motor nerve supply from the facial nerve, and its blood supply from labial branches of the facial artery. It is contributed to by the following muscles: orbicularis oris, buccinator, levator anguli oris, depressor anguli oris, zygomaticus major, risorius quadratus labii superioris, quadratus labii inferioris.


N-acylammonia

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


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


description: Catalysis of the hydrolysis of (1->4)-alpha-D-glucosidic linkages in polysaccharides so as to remove successive alpha-maltose residues from the non-reducing ends of the chains.


description: Catalysis of the reaction: 2,3-dihydroxy-2'-carboxybiphenyl + O2 = 2-hydroxy-6-oxo-6-(2-carboxyphenyl)-hexa-2,4-dienoate + H+.


description: Catalysis of the reaction: (3S,5S)-3,5-diaminohexanoate + H2O + NAD+ = (S)-5-amino-3-oxo-hexanoate + H+ + NADH + NH4.


initiation of appressorium formation

description: The process in which a relatively unspecialized cell starts to acquire specialized features of the symbiont appressorium to aid in infection of the host. The host is defined as the larger of the organisms involved in a symbiotic interaction.


name: Acute Liver Injury without Fulminant Failure Related to COVID-19

description: Acute liver injury associated with abnormal liver chemistries (greater than two times the upper limit of normal) in the absence of signs of hepatic failure (e.g., no coagulopathy or encephalopathy) in a patient with probable or confirmed acute COVID-19. This is usually mild, transient, and does not require intervention.


description: Catalysis of the reaction: 1,2,3,6-tetrakis-O-galloyl-beta-D-glucose + 1-O-galloyl-beta-D-glucose = 1,2,3,4,6-pentakis-O-galloyl-beta-D-glucose + D-glucose.


cellular response to methanol

description: 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 methanol stimulus.


name: magnetoreception by sensory perception of chemical stimulus

description: The series of events required for an organism to receive a chemical stimulus relating to a magnetic field, convert it to a molecular signal, and recognize and characterize the signal. It is believed that organisms such as birds and salamanders use a 'chemical compass': chemical reactions that involve transitions between different spin states can be influenced by magnetic fields and by detecting the different product ratios, these organisms can perceive the direction of the magnetic field. The mechanism by which this is detected is not certain but it may also involve light stimuli.


sensory perception of salty taste

description: The series of events required to receive a salty taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.


chlororespiration

description: A respiratory electron flow (from NAD(P)H to plastoquinone (PQ) and O2) involving both a nonphotochemical reduction and re-oxidation of PQ pool.


name: negative regulation of neural crest cell fate specification

description: Any process that stops, prevents or reduces the frequency, rate or extent of neural crest cell fate specification.


name: negative regulation of neural crest formation

description: Any process that decreases the rate, frequency, or extent of neural crest formation. Neural crest formation is the formation of the specialized region of ectoderm between the neural ectoderm (neural plate) and non-neural ectoderm. The neural crest gives rise to the neural crest cells that migrate away from this region as neural tube formation proceeds.


(S,S)-formoterol

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


benzoyl acetate-CoA thiolase activity

description: Catalysis of the reaction: benzoyl acetyl-CoA + CoA = acetyl-CoA + benzoyl-CoA.


Hemorrhage of rectum and anus

description: Bleeding originating from the rectal wall and anus.


hydrogenase activity (NAD+, ferredoxin)

description: Catalysis of the reaction: 2 dihydrogen + NAD + 2 an oxidized ferredoxin = NADH + 3 H+ + 2 a reduced ferredoxin.


name: positive regulation of chondrocyte development

description: Any process that activates or increases the frequency, rate or extent of chondrocyte development.


ureteral orifice

description: The slit-like opening of either ureter into the bladder; normally, the two ureteral orifices are placed at the posterolateral angles of the urinary bladder trigone while the internal urethral orifice is placed at its anteroinferior angle (apex); wide gaping usually indicates vesicoureteral reflux.


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


description: Hemophagocytic lymphohistiocytosis that is resistant to treatment.


proximal epiphysis of metatarsal bone

description: A proximal epiphysis that is part of a metatarsal bone [Automatically generated definition].


name: proximal epiphysis of third metatarsal bone

description: A proximal epiphysis that is part of a metatarsal bone of digit 3 [Automatically generated definition].


name: proximal epiphysis of first metatarsal bone

description: A proximal epiphysis that is part of a metatarsal bone of digit 1 [Automatically generated definition].


name: proximal epiphysis of fifth metatarsal bone

description: A proximal epiphysis that is part of a metatarsal bone of digit 5 [Automatically generated definition].


name: proximal epiphysis of second metatarsal bone

description: A proximal epiphysis that is part of a metatarsal bone of digit 2 [Automatically generated definition].


name: proximal epiphysis of fourth metatarsal bone

description: A proximal epiphysis that is part of a metatarsal bone of digit 4 [Automatically generated definition].


name: regulation of connective tissue replacement involved in inflammatory response wound healing

description: Any process that modulates the frequency, rate or extent of wound healing connective tissue replacement, which may be replaced with fibrotic material, that occurs as part of an inflammatory response.


name: negative regulation of connective tissue replacement involved in inflammatory response wound healing

description: Any process that stops, prevents or reduces the frequency, rate or extent of wound healing connective tissue replacement, which may be replaced with fibrotic material, that occurs as part of an inflammatory response.


name: positive regulation of connective tissue replacement involved in inflammatory response wound healing

description: Any process that activates or increases the frequency, rate or extent of wound healing connective tissue replacement, which may be replaced with fibrotic material, that occurs as part of an inflammatory response.


phenylacetyl-CoA hydrolase activity

description: Catalysis of the reaction: H2O + phenylglyoxylyl-CoA = CoA + H+ + phenylglyoxylate.


SUMO conjugating enzyme activity

description: Isoenergetic transfer of SUMO from one protein to another via the reaction X-SUMO + Y = Y-SUMO + X, where both the X-SUMO and Y-SUMO linkages are thioester bonds between the C-terminal amino acid of SUMO and a sulfhydryl side group of a cysteine residue.


duodenal gland

description: A compound tubular submucosal gland found in that portion of the duodenum which is above the hepatopancreatic sphincter (Sphincter of Oddi). The main function of these glands is to produce a mucus-rich alkaline secretion (containing bicarbonate)[WP].


cellular response to diterpene

description: 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 diterpene stimulus.


ATP dimethylallyltransferase activity

description: Catalysis of the reaction: delta(2)-isopentenyl diphosphate + ATP = diphosphate + N6-(delta(2)-isopentenyl)adenosine 5'-triphosphate.


synaptic vesicle, resting pool

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

description: A synaptic vesicle belonging to the pool that remain unreleased even after prolonged stimulation causes a saturating degree of vesicular turnover. 50-80% of the total number of synaptic vesicles at a resting terminal bouton are in this pool.


Kidney part

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

description: Any component of one of the two bean-shaped organs located on each side of the spine in the retroperitoneum, which filters and secrets the metabolic products and minerals from the blood, thus maintaining the homeostasis.


distal convoluted tubule

description: The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa.


proximal convoluted tubule

description: The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule.


glomerular visceral epithelium

description: The inner (visceral) layer of the renal glomerular capsule, overlying the capillaries, composed of podocytes, and separated from the outer (parietal) layer by the capsular (Bowman's) space[BTO]. This epithelial layer is superficially adjacent to the thickened glomerular basement membrane and is made of podocytes. Beneath the visceral layer lie the glomerular capillaries[WP]. This inner epithelial layer of the glomerular capsule surrounds the capillary endothelial cells and is composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the inner visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space)[MP].


renal convoluted tubule

description: Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble.


descending limb of loop of Henle

description: The portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure.


ascending limb of loop of Henle

description: The distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium[MP].


Irregular Tubule

description: The irregular portion of the nephron.


macula densa

description: The macula densa is an area of specialized cells in the distal tubule that makes contact with the vascular pole of the glomerulus[GO].


Renal collecting tube

description: The final section of a renal tubule in the nephron between the distal convoluted tubule and the ureter comprising of principal and intercalated cells. The collecting tube acts to reabsorb sodium and water while secreting potassium and maintaining acid-base homeostasis.


glomerular parietal epithelium

description: A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP].


Curved Tube

description: The curved portion of the nephron.


Desmoplastic Neurotropic Melanoma

description: A desmoplastic melanoma characterized by the presence of nerve infiltration by atypical spindled melanocytes.


Ann Arbor Stage I AIDS-Related Lymphoma

description: Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).


name: Magnesium ammonium phosphate urolithiasis

description: Urolithiasis in which the composition of the stone(s) is predominantly magnesium ammonium phosphate.


name: Stage IIIB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

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


dorsal root ganglion

description: Sensory ganglia located on the dorsal spinal roots within the vertebral column. The spinal ganglion cells are pseudounipolar. The single primary branch bifurcates sending a peripheral process to carry sensory information from the periphery and a central branch which relays that information to the spinal cord or brain. (MSH) * ganglion found on the posterior root of each spinal nerve, composed of the unipolar nerve cell bodies of the sensory neurons of the nerve. (CSP).


lateral line ganglion

description: Ganglion that develops from a cranial ectodermal placode and contains sensory neurons that innervate a lateral line.


posterior lateral line ganglion

description: The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system.


trunk ganglion

description: Ganglion which is located in the trunk.


paravertebral ganglion

description: Trunk ganglion which is part of a bilaterally paired set of sympathetic ganglia located anterior and lateral to the spinal cord.


epibranchial ganglion

description: Cranial ganglion which develops from an epibranchial placode.


anterior lateral line ganglion

description: The anteror lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system.


DMNT synthase activity

description: Catalysis of the reaction: H+ + (3S,6E)-nerolidol + NADPH + O2 = (E)-4,8-dimethyl-1,3,7-nonatriene + buten-2-one + NADP + 2 H2O.


name: positive regulation of non-professional antigen presenting cell antigen processing and presentation

description: Any process that activates or increases the frequency, rate, or extent of non-professional antigen presenting cell antigen processing and presentation.


Stage IIIB Colon Cancer AJCC v8

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


Stage III Colon Cancer AJCC v8

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


Stage IIIC Colon Cancer AJCC v8

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


Stage IIIA Colon Cancer AJCC v8

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


AMP nucleosidase activity

description: Catalysis of the reaction: AMP + H2O = D-ribose 5-phosphate + adenine.


name: plasma membrane bounded cell projection assembly

description: Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon.


dendritic cell dendrite assembly

description: Formation of dendrites, branched cellular projections (or cytoplasmic extension) that are extended from the surface of a dendritic immune cell, and which enable the cell to sample luminal pathogens and increase the surface area for antigen presentation to T cells.


name: lamellipodium assembly involved in ameboidal cell migration

description: Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell that contributes to the directed self propelled movement of a cell.


lateral pseudopodium assembly

description: The extension of a pseudopodium from the lateral area of a cell.


mating projection formation

description: The aggregation, arrangement and bonding together of a set of components to form a cell projection in response to mating pheromone. This process is observed in unicellular fungi.


name: endothelial tip cell filopodium assembly

description: The assembly of a filopodium, a thin, stiff protrusion extended by the endothelial tip cell of a vascular sprout.


uropod assembly

description: The assembly of a uropod by rearrangement of the cytoskeleton and overlying membrane.


name: lamellipodium assembly involved in mesendodermal cell migration

description: Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell that contributes to the directed self-propelled movement of a mesendodermal cell.


name: extension of leading cell process to pial surface

description: The extension of a long process to the pial surface as a cell leaves the ventricular zone.


cytoneme assembly

description: Formation of a cytoneme, a long, thin and polarized actin-based cytoplasmic extension that projects from a cell.


name: beta-alanine biosynthetic process via 3-ureidopropionate

description: The chemical reactions and pathways resulting in the formation of beta-alanine via the intermediate 3-ureidopropionate.


name: plasma membrane ATP synthesis coupled electron transport

description: The transfer of electrons through a series of electron donors and acceptors, generating energy that is ultimately used for synthesis of ATP in the plasma membrane.


name: compound eye cone cell fate determination

description: The process in which a cell becomes capable of differentiating autonomously into a compound eye cone cell regardless of its environment; upon determination, the cell fate cannot be reversed.


right hepatic duct

description: The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct.


description: Catalysis of the reaction: (1S,4R)-1-hydroxy-2-oxolimonene + NADPH + O2 = NADP+ + OH- + (3R)-3-isopropenyl-6-oxoheptanoate.


name: negative regulation of B-1 B cell differentiation

description: Any process that stops, prevents, or reduces the rate of B-1 B cell differentiation.


name: negative regulation of plasma cell differentiation

description: Any process that stops, prevents or reduces the frequency, rate or extent of plasma cell differentiation.


name: positive regulation of core promoter binding

description: Any process that activates or increases the frequency, rate or extent of core promoter binding.


Childhood Malignant Skin Neoplasm

description: A malignant neoplasm that affects the skin and occurs during childhood.


name: oxidoreductase activity, acting on other nitrogenous compounds as donors, with a quinone or similar compound as acceptor

description: Catalysis of an oxidation-reduction (redox) reaction in which a nitrogenous group, excluding NH and NH2 groups, acts as a hydrogen or electron donor and reduces a quinone or similar compound.


nitrate reductase (quinone) activity

description: Catalysis of the reaction: a quinol + nitrate = a quinone + H2O + nitrite.


pancreatic A cell development

description: The process whose specific outcome is the progression of a pancreatic A cell over time, from its formation to the mature structure. A pancreatic A cell is a cell in the pancreas that secretes glucagon.


name: negative regulation of antigen processing and presentation via MHC class Ib

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of antigen via MHC class Ib.


name: regulation of antigen processing and presentation via MHC class Ib

description: Any process that modulates the frequency, rate, or extent of antigen processing and presentation of antigen via MHC class Ib.


name: regulation of antigen processing and presentation of lipid antigen via MHC class Ib

description: Any process that modulates the frequency, rate, or extent of antigen processing and presentation of lipid antigen via MHC class Ib.


name: regulation of antigen processing and presentation of peptide antigen via MHC class Ib

description: Any process that modulates the frequency, rate, or extent of antigen processing and presentation of peptide antigen via MHC class Ib.


name: positive regulation of antigen processing and presentation via MHC class Ib

description: Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen via MHC class Ib.


name: positive regulation of antigen processing and presentation of peptide antigen via MHC class Ib

description: Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of peptide antigen via MHC class Ib.


name: negative regulation of antigen processing and presentation of lipid antigen via MHC class Ib

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of lipid antigen via MHC class Ib.


name: negative regulation of antigen processing and presentation of peptide antigen via MHC class Ib

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of peptide antigen via MHC class Ib.


name: positive regulation of antigen processing and presentation of lipid antigen via MHC class Ib

description: Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of lipid antigen via MHC class Ib.


name: proteolysis by cytosolic proteases associated with antigen processing and presentation

description: The hydrolysis of a peptide bond or bonds within a protein by cytosolic resident proteases during antigen processing and presentation.


name: host cell endoplasmic reticulum-Golgi intermediate compartment

description: A complex system of membrane-bounded compartments located between host cell endoplasmic reticulum (ER) and the host Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi transport.


3',3'-cyclic GMP-AMP binding

description: Binding to 3',3' cyclic GMP-AMP (cGAMP) nucleotide, a cyclic purine dinucleotide that consists of AMP and GMP units cyclized via 3',5' and 3',5' linkages.


regulation of coreceptor activity

description: Any process that modulates the rate or frequency of coreceptor activity, combining with an extracellular or intracellular messenger, and in cooperation with a nearby primary receptor, initiating a change in cell activity.


P Wave Abnormality by ECG Finding

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: An electrocardiographic finding for the P wave that is atypical either for the shape, duration, amplitude, axis or polarity. Abnormality of the P wave signifies aberrant propagation of the electrical impulse through the atria.


superior ophthalmic vein

description: The superior ophthalmic vein begins at the inner angle of the orbit in a vein named the nasofrontal which communicates anteriorly with the angular vein; it pursues the same course as the ophthalmic artery, and receives tributaries corresponding to the branches of that vessel. Forming a short single trunk, it passes between the two heads of the Rectus lateralis and through the medial part of the superior orbital fissure, and ends in the cavernous sinus. The ethmoidal veins drain into the superior ophthalmic vein. Vorticose veins also drain into the superior ophthalmic vein.


13-lipoxin reductase activity

description: Definition: Catalysis of the reaction: 15-oxolipoxin A4 + NAD(P)H + H+ = 13,14-dihydro-15-oxolipoxin A4 + NAD(P)+.


name: platelet activating factor catabolic process

description: The chemical reactions and pathways resulting in the breakdown of platelet activating factor, 2-O-acetyl-1-O-octadecyl-sn-glycero-3-phosphocholine.


name: positive regulation of glucuronosyltransferase activity

description: Any process that activates or increases the frequency, rate or extent of glucuronosyltransferase activity.


(-)-pinoresinol metabolic process

description: The chemical reactions and pathways involving (-)-pinoresinol.


lignan metabolic process

description: The chemical reactions and pathways involving lignans, any member of a class of plant metabolites related to lignins. Lignans are usually found as phenylpropanoid dimers in which the phenylpropanoid units are linked tail to tail and thus having a 2,3 dibenzylbutane skeleton, but higher oligomers can also exist.


description: The chemical reactions and pathways resulting in the breakdown of (+)-secoisolariciresinol.


description: The chemical reactions and pathways involving (+)-secoisolariciresinol.


lignan catabolic process

description: The chemical reactions and pathways resulting in the breakdown of lignans, any member of a class of plant metabolites related to lignins. Lignans are usually found as phenylpropanoid dimers in which the phenylpropanoid units are linked tail to tail and thus having a 2,3 dibenzylbutane skeleton, but higher oligomers can also exist.


description: The chemical reactions and pathways resulting in the formation of (+)-secoisolariciresinol.


(+)-pinoresinol catabolic process

description: The chemical reactions and pathways resulting in the breakdown of (+)-pinoresinol.


description: The chemical reactions and pathways resulting in the formation of (+)-3'-hydroxylarreatricin.


(-)-lariciresinol biosynthetic process

description: The chemical reactions and pathways resulting in the formation of (-)-lariciresinol.


(-)-lariciresinol metabolic process

description: The chemical reactions and pathways involving (-)-lariciresinol.


lignan biosynthetic process

description: The chemical reactions and pathways resulting in the formation of lignans, any member of a class of plant metabolites related to lignins. Lignans are usually found as phenylpropanoid dimers in which the phenylpropanoid units are linked tail to tail and thus having a 2,3 dibenzylbutane skeleton, but higher oligomers can also exist.


(-)-lariciresinol catabolic process

description: The chemical reactions and pathways resulting in the breakdown of (-)-lariciresinol.


description: The chemical reactions and pathways resulting in the breakdown of (-)-secoisolariciresinol.


description: The chemical reactions and pathways resulting in the formation of (-)-secoisolariciresinol.


(+)-pinoresinol metabolic process

description: The chemical reactions and pathways involving (+)-pinoresinol.


(+)-pinoresinol biosynthetic process

description: The chemical reactions and pathways resulting in the formation of (+)-pinoresinol.


(+)-lariciresinol catabolic process

description: The chemical reactions and pathways resulting in the breakdown of (+)-lariciresinol.


(-)-pinoresinol catabolic process

description: The chemical reactions and pathways resulting in the breakdown of (-)-pinoresinol.


(+)-lariciresinol metabolic process

description: The chemical reactions and pathways involving (+)-lariciresinol.


(+)-lariciresinol biosynthetic process

description: The chemical reactions and pathways resulting in the formation of (+)-lariciresinol.


description: The chemical reactions and pathways involving (-)-secoisolariciresinol.


(+)-larreatricin metabolic process

description: The chemical reactions and pathways involving (+)-larreatricin.


(-)-pinoresinol biosynthetic process

description: The chemical reactions and pathways resulting in the formation of (-)-pinoresinol.


name: acyl coenzyme A: isopenicillin N acyltransferase activity

description: Catalysis of the reaction: octanoyl-CoA + isopenicillin N + H2O = H+ + coenzyme A + penicillin K + L-2-aminoadipate.


name: regulation of branching involved in mammary cord morphogenesis by fat precursor cell-epithelial cell signaling

description: Any process that modulates the rate, frequency, or extent of branching of the mammary gland cord as a result of a signal being created by a mammary fat precursor cell and its subsequent reception and interpretation by a mammary cord epithelial cell.


lateral root development

description: The process whose specific outcome is the progression of the lateral root over time, from its formation to the mature structure. A lateral root is one formed from pericycle cells located on the xylem radius of the root, as opposed to the initiation of the main root from the embryo proper.


post-embryonic root development

description: The process whose specific outcome is the progression of the post-embryonic root over time, from its formation to the mature structure.


detection of phosphate ion

description: The series of events in which a phosphate ion stimulus is received by a cell and converted into a molecular signal.


diester

A diester is a compound containing two ester groups.


(R)-malathion

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


(S)-nisoldipine

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


(S)-nicardipine

The S-enantiomer of nicardipine.


(S)-malathion

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


(R)-nisoldipine

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


(R)-nicardipine

The R-enantiomer of nicardipine.


endocardial endothelium development

description: The progression of the endocardial endothelium over time, from its initial formation to the mature structure. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers.


name: Clinical Stage IIA Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IIA includes: T1, N1, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Ectopic Meningioma

description: A meningothelial neoplasm that arises from an anatomic site outside the intracranial and intraspinal compartments.


Primary Middle Ear Meningioma

description: A rare extracranial meningioma that arises from the middle ear.


Primary Sinonasal Meningioma

description: A rare extracranial meningioma that arises from the sinonasal tract.


galactarate dehydratase activity

description: Catalysis of the reaction: galactarate = 5-dehydro-4-deoxy-D-glucarate + H2O.


Bolwig's organ development

description: The process whose specific outcome is the progression of the Bolwig's organ over time, from its formation to the mature structure. The larval eye in Drosophila is a relatively simple sensory system composed of Bolwig's organs: two clusters, each composed of 12 photoreceptor cells from which axons extend in a single fascicle to the brain.


morphine receptor activity

description: Combining with morphine (17-methyl-7,8-didehydro-4,5alpha-epoxymorphinan-3,6alpha-diol), and transmitting the signal across the membrane by activating an associated G-protein.


pyrrolysine biosynthetic process

description: The chemical reactions and pathways resulting in the formation of pyrrolysine, N6-{[(2R,3R)-3-methyl-3,4-dihydro-2H-pyrrol-2-yl]carbonyl}-L-lysine.


interleukin-31 production

description: The appearance of interleukin-31 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.


name: respiratory system arterial smooth muscle


name: regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I

description: Any process that modulates the frequency, rate or extent of antigen processing and presentation of endogenous peptide antigen via MHC class I.


name: negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I

description: Any process that stops, prevents or reduces the frequency, rate or extent of antigen processing and presentation of endogenous peptide antigen via MHC class I.


name: positive regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I

description: Any process that activates or increases the frequency, rate or extent of antigen processing and presentation of endogenous peptide antigen via MHC class I.


name: positive regulation of male pigmentation

description: Any process that activates or increases the frequency, rate or extent of establishment of a pattern of pigment in males.


rib 7

description: The seventh rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


rib endochondral element

description: A rib bone or its cartilage or pre-cartilage precursor.


false rib

description: A rib that is not directly ventrally connected to the sternum.


rib 11

description: The eleventh rib has a single articular facet on the head, which is of rather large size. It has no necks or tubercles, and is pointed at its anterior ends. The eleventh has a slight angle and a shallow costal groove. [WP,unvetted].


rib 6

description: The sixth rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


cervical rib

description: A rib that is attached to a cervical vertebra.


rib 10

description: The tenth rib has only a single articular facet on its head. [WP,unvetted].


rib 8

description: The eighth rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


rib 4

description: The fourth rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


rib of vertebra 7

description: Rib that articulates with the parapophysis of the seventh centrum.


lumbar rib

description: A rib that is attached to a lumbar vertebra.


rib 1

description: The first rib of the rib cage.


rib 9

description: The ninth rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


floating rib

description: A rib that is not connected to sternum or sternal cartilage.


rib 12

description: In humans: The twelfth rib has a single articular facet on the head, which is of rather large size. It has no necks or tubercles, and is pointed at its anterior ends. The twelfth has angle nor costal groove; it is much shorter than the eleventh rib, and its head is inclined slightly downward. Sometimes the twelfth rib is even shorter than the first rib. [WP,unvetted].


trunk rib

description: Rib located in the trunk (ribcage) area (i.e. excluding cervical and caudal axial series.


sacral rib

description: Elements of the sacrum joining true sacral vertebrae to pelvis [12th edition of Henderson's Dictionary of Biological terms].


rib of vertebra 3

description: Rib that articulates with the parapophysis of the third centrum.


rib 2

description: The second rib of the rib cage.


rib of vertebra 6

description: Rib that articulates with the parapophysis of the sixth centrum.


rib 3

description: The third rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


presacral rib

description: Rib located anterior to the sacral region.


rib of vertebra 5

description: Rib that articulates with the parapophysis of the fifth centrum.


rib 5

description: The fifth rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


true rib

description: A rib that is ventrally connected to the sternum.


rib of vertebra 4

description: Rib that articulates with the parapophysis of the fourth centrum.


rib of vertebra 1

description: Rib that articulates with the parapophysis of the first centrum.


rib of vertebra 2

description: Rib that articulates with the parapophysis of the second centrum.