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: Actinobacillus infectious disease, non-human animal

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

description: Actinobacillus infectious disease that occurs in non-human animals.


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.


venereal tumors, veterinary

description: Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur.


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.


name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations


immune system cancer

description: A malignant neoplasm involving the immune system


Sugarman brachydactyly

description: Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.


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


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


name: hallux varus-preaxial polysyndactyly syndrome

description: Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.


toxoplasmosis, non-human animal

description: Acquired infection of non-human animals by organisms of the genus toxoplasma.


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.


Meier-Gorlin syndrome 3

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.


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


X-linked mandibulofacial dysostosis

description: X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.


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: lethal congenital contracture syndrome 7

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.


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.


name: hamartoma, Precalcaneal congenital fibrolipomatous


name: refractory anemia with excess blasts in transformation

description: Refractory anemia with excess blasts in transformation (RAEB-T) is characterized by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2.


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.


adenoviridae infectious disease

description: An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis.


entropion, sheep

description: Entropion that occurs in sheep.


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.


hemorrhagic cystitis

description: Inflammation of the bladder resulting in bloody urine.


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.


neonatal anemia

description: The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation.


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


penile cancer

description: A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma.


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.


atrial fibrillation, non-human animal

description: Atrial fibrillation that occurs in non-human animals.


swine vesicular disease

description: An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B.


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.


Atkin-Flaitz syndrome

description: Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.


pleural disorder

description: A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.


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.


name: corpus callosum agenesis-double urinary collecting system syndrome


syndactyly, Swainson's hawk

description: Syndactyly that occurs in Swainson's hawk.


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


name: vertebral hypoplasia with lumbar kyphosis


name: immunodeficiency-related disorder, non-human animal

description: Immunodeficiency-Related disorder that occurs in non-human animals.


salpingo-oophoritis

description: Inflammation of the fallopian tubes and ovaries.


metabolic disease, non-human animal

description: Metabolic disease that occurs in non-human animals.


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


name: CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy

description: Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization.


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.


name: diabetes mellitus, congenital autoimmune


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.


name: Phelan-McDermid syndrome, non-human animal

description: Phelan-McDermid syndrome that occurs in non-human animals.


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


iatrogenic disease

description: Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.


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: heart defect - tongue hamartoma - polysyndactyly syndrome


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.


Dandy-Walker syndrome, domestic cat

description: Dandy-Walker syndrome that occurs in domestic cat.


Jawad syndrome

description: Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.


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


ventricular septal defect, pig

description: Ventricular septal defect that occurs in pig.


intermediate anorectal malformation

description: Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections.


name: blistering, acantholytic, of oral and laryngeal mucosa


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).


viral infectious disease

description: Any disease caused by a virus.


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: cerebral calcification cerebellar hypoplasia


name: immunodeficiency 63 with lymphoproliferation and autoimmunity


van Maldergem syndrome

description: Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.


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.


McKusick-Kaufman syndrome

description: McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.


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.


Koolen-de Vries syndrome

description: A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.


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.


name: hypertrophic cardiomyopathy, domestic cat

description: Hypertrophic cardiomyopathy that occurs in domestic cat.


name: microcephaly, short stature, and impaired glucose metabolism


tetradysmelia, cattle

description: Tetradysmelia that occurs in cattle.


erythrocytosis, familial, 4

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


name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome


polydactyly, rock pigeon

description: Polydactyly that occurs in rock pigeon.


name: central nervous system calcification-deafness-tubular acidosis-anemia syndrome

description: This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.


coenzyme Q10 deficiency, primary, 3

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


dilated cardiomyopathy, sea otter

description: Dilated cardiomyopathy that occurs in sea otter.


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: trimethylaminuria (fishy taint), non-human animal

description: Trimethylaminuria (fishy taint) that occurs in non-human animals.


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: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1


name: nystagmus 2, congenital, autosomal dominant


epilepsy, chicken

description: Epilepsy that occurs in chicken.


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.


schwannomatosis, cattle

description: Schwannomatosis that occurs in cattle.


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


acromegaly, dog

description: Acromegaly that occurs in dog.


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.


triploidy, chicken

description: Triploidy that occurs in chicken.


name: oculocerebrofacial syndrome, Kaufman type


name: sensory ganglionopathy, non-human animal

description: Sensory ganglionopathy that occurs in non-human animals.


Chediak-Higashi syndrome, cattle

description: Chediak-Higashi syndrome that occurs in cattle.


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


Huntington disease, Rhesus monkey

description: Huntington disease that occurs in Rhesus monkey.


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: dihydropyrimidinase deficiency, domestic cat

description: Dihydropyrimidinase deficiency that occurs in domestic cat.


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).


chronic eosinophilic leukemia

description: A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues.  Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia.  In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of "idiopathic hypereosinophilic syndrome" is preferred.  (WHO, 2001)


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.


description: A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics.


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.


Gamstorp-Wohlfart syndrome

description: A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.


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: developmental delay with dysmorphic facies and dental anomalies


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.


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: cellular response to potassium ion starvation

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

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 deprivation of potassium ions.


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.


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.


sensory perception of chemical stimulus

description: The series of events required for an organism to receive a sensory chemical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.


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.


sensory perception of sour taste

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


sensory perception of umami taste

description: The series of events required to receive an umami taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. Umami taste is the savory taste of meats and other foods that are rich in glutamates. This is a neurological process.


detection of virus

description: The series of events in which a stimulus from a virus is received and converted into a molecular signal.


description: Hemophagocytic lymphohistiocytosis that is resistant to treatment.


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.


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.)


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.)


cellular response to interferon-beta

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 an interferon-beta stimulus. Interferon-beta is a type I interferon.


Childhood Malignant Skin Neoplasm

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


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.


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.


name: Hodgkin's disease mixed cellularity stage II subdiaphragmatic


name: Ann Arbor Stage II Mixed Cellularity Classic Hodgkin Lymphoma

description: Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).


name: Hodgkin's disease mixed cellularity stage II supradiaphragmatic


Childhood Sympathetic Paraganglioma

description: A sympathetic paraganglioma that occurs during childhood.


Childhood Paraganglioma

description: A paraganglioma that occurs during childhood.


Childhood Parasympathetic Paraganglioma

description: A parasympathetic paraganglioma that occurs during childhood.


Childhood Composite Paraganglioma

description: A composite paraganglioma that occurs during childhood.


name: Mismatch Repair-Deficient Endometrial Endometrioid Adenocarcinoma

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


Uterine Corpus Neuroendocrine Tumor G1

description: A very rare, well-differentiated, low-grade neuroendocrine neoplasm that arises from the uterine corpus.


Stress ulcer

description: An ulcer due to stress.


Orbit Solitary Fibrous Tumor

description: A solitary fibrous tumor that arises from the orbit. Most of these tumors are benign.


Malignant neoplasm of exocervix

description: A malignant neoplasm that affects the exocervix.


Genital Human Papillomavirus Infection

description: Infection of the genitalia by human papillomavirus.


Iatrogenic Hypoparathyroidism

description: Hypoparathyroidism resulting from medical treatment or intervention.


Acquired Hypoparathyroidism

description: Hypoparathyroidism, the cause of which is not present at birth.


Hypoparathyroidism, Autosomal Recessive

description: Hypoparathyroidism associated with homozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb.


Transient neonatal hypoparathyroidism

description: A disorder of decreased production of parathyroid hormone by the parathyroid gland in a newborn. It is due to maternal hyperparathyroidism. It may be characterized by hypocalcemic seizures in the first weeks of life.


Primary hypoparathyroidism

description: Abnormally low levels of parathyroid hormone due to a disorder originating within the parathyroid glands.


name: clearance of foreign intracellular nucleic acids

description: A defense process that protects an organism from DNA or RNA from an invading organism.


defense response to other organism

description: Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism.


suppression of viral release by host

description: A process in which a host organism stops, prevents or reduces the frequency, rate or extent of the release of a virus with which it is infected, from its cells.


name: antimicrobial humoral immune response mediated by antimicrobial peptide

description: An immune response against microbes mediated by anti-microbial peptides in body fluid.


name: jasmonic acid and ethylene-dependent systemic resistance

description: The jasmonic acid and ethylene (ethene) dependent process that confers broad spectrum systemic resistance to disease in response to wounding or a pathogen.


cytolysis by host of symbiont cells

description: The killing by an organism of a cell in its symbiont organism by means of the rupture of cell membranes and the loss of cytoplasm. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction.


antibacterial humoral response

description: An immune response against bacteria mediated through a body fluid. Examples of this process are the antibacterial humoral responses in Mus musculus and Drosophila melanogaster.


innate immune response in mucosa

description: Any process of the innate immune response that takes place in the mucosal tissues.


CRISPR-cas system

description: A defense response of that serves to clear host cells of foreign DNA and RNA. It has three distinct stage: acquisition of foreign DNA by integration into CRISPR loci in the host chromosome, CRISPR RNA (crRNA) biogenesis, and target interference. CRISPR stands for Clustered Regularly Interspaced Short Palindromic Repeat, which describes the nature of the loci.


induced systemic resistance

description: A response to non-pathogenic bacteria that confers broad spectrum systemic resistance to disease that does not depend upon salicylic acid signaling.


name: neutrophil-mediated killing of bacterium

description: The directed killing of a bacterium by a neutrophil.


natural killer cell mediated immunity

description: The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines.


name: neutrophil-mediated killing of gram-positive bacterium

description: The directed killing of a gram-positive bacterium by a neutrophil.


induction of bacterial agglutination

description: Any process in which infecting bacteria are clumped together by a host organism.


name: natural killer cell mediated immune response to tumor cell

description: An immune response mediated by a natural killer cell triggered in response to the presence of a tumor cell.


DNA restriction-modification system

description: A defense process found in many bacteria and archaea that protects the organism from invading foreign DNA by cleaving it with a restriction endonuclease. The organism's own DNA is protected by methylation of a specific nucleotide, which occurs immediately following replication, in the same target site as the restriction enzyme.


suppression of symbiont entry into host

description: Any process in which an organism stops, prevents, or reduces the frequency, rate or extent to which it enters into a second organism, where the two organisms are in a symbiotic interaction.


defense response to host

description: Reactions triggered in response to the presence of a host that act to protect or prevent damage to the symbiont.


defense response to symbiont

description: Reactions triggered in response to the presence of a symbiont that act to protect or prevent damage to the host.


antiviral innate immune response

description: A defense response against viruses mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens.


name: neutrophil-mediated killing of symbiont cell

description: The directed killing of a symbiont target cell by a neutrophil. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction.


name: male-specific defense response to bacterium

description: A set of reactions, specific to males, that are triggered in response to the presence of a bacterium that act to protect the cell or organism.


clearance of foreign intracellular DNA

description: A defense process that protects an organism from invading foreign DNA.


natural killer cell cytokine production

description: Any process that contributes to cytokine production by a natural killer cell.


defense response to oomycetes

description: Reactions triggered in response to the presence of oomycetes that act to protect the cell or organism.


antifungal innate immune response

description: An defense response against a fungus mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens.


name: natural killer cell mediated cytotoxicity directed against tumor cell target

description: The directed killing of a tumor cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.


antibacterial innate immune response

description: An defense response against a bacteria mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens.


neutrophil-mediated killing of fungus

description: The directed killing of a fungal cell by a neutrophil.


name: male-specific antibacterial humoral response

description: An immune response against bacteria, specific to males and mediated through a body fluid.


defense response to virus

description: Reactions triggered in response to the presence of a virus that act to protect the cell or organism.


defense response to protozoan

description: Reactions triggered in response to the presence of a protozoan that act to protect the cell or organism.


defense response to parasitic plant

description: Reactions triggered in response to the presence of a parasitic plant that act to protect an organism.


defense response to fungus

description: Reactions triggered in response to the presence of a fungus that act to protect the cell or organism.


killing by host of symbiont cells

description: Any process mediated by an organism that results in the death of cells in the symbiont organism. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction.


hemolymph coagulation

description: Any process in which factors in the hemolymph (the invertebrate equivalent of vertebrate blood and lymph) precipitate into insoluble clots in order to prevent loss of body fluid, and at the same time prevent the movement of microbes. Hemolymph coagulation is also part of the invertebrate humoral immune response.


name: melanotic encapsulation of foreign target

description: Formation of a multilayered, melanized sheath of cells around a foreign invader.


name: natural killer cell mediated cytotoxicity

description: The directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.


name: defense response to Gram-negative bacterium

description: Reactions triggered in response to the presence of a Gram-negative bacterium that act to protect the cell or organism.


defense response to bacterium

description: Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism.


antimicrobial humoral response

description: An immune response against microbes mediated through a body fluid. Examples of this process are seen in the antimicrobial humoral response of Drosophila melanogaster and Mus musculus.


systemic acquired resistance

description: The salicylic acid-mediated response to a pathogen which confers broad spectrum resistance.


melanization defense response

description: The blackening of the wounded area of the cuticle or the surface of invading pathogens, parasites or parasitoids, resulting from a proteolytic cascade leading to the de novo synthesis and deposition of melanin.


name: neutrophil-mediated killing of gram-negative bacterium

description: The directed killing of a gram-negative bacterium by a neutrophil.


innate immunity memory response

description: An immune response mediated by the innate immune system and directed against a previously encountered immunologic stimulus, being quicker and quantitatively better compared with the initial response to that stimulus.


innate immune response

description: Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.


name: defense response against perturbation of plasma membrane integrity

description: The cellular processes and signaling pathways by which a cell responds to disruption of the integrity of its plasma membrane by another organism. Some toxins produced by other organisms can form pores in membranes, or affect the membrane permeability.


age-related resistance

description: An innate immune response that is positively correlated with host plant development. As a plant develops, its innate resistance to pathogenic infections increases. The mechanisms involved in age-related resistance differ in nature or in aspects of regulation from the hypersensitive response (HR), systemic acquired resistance (SAR), or induced systemic resistance (ISR).


antifungal humoral response

description: An immune response against a fungus mediated through a body fluid. An example of this process is the antifungal humoral response in Drosophila melanogaster.


clearance of foreign intracellular RNA

description: A defense process that protects an organism from invading foreign RNA.


name: defense response to Gram-positive bacterium

description: Reactions triggered in response to the presence of a Gram-positive bacterium that act to protect the cell or organism.


Circumscribed storiform collagenoma

description: A benign skin tumor characterized as a small, dome-shaped dermal nodule composed of fibroblasts in a dense collagenous background with storiform organization.  Rarely, multiple lesions can occur in connection with Cowden's disease.


Senile nevus

description: A benign skin lesion consisting of a cluster of capillaries at the surface of the skin, forming a red papular lesion.


cellular response to puromycin

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 puromycin stimulus.


name: detection of reduced oxygen by carotid body chemoreceptor signaling

description: The process in which information about the levels of oxygen are received and are converted to a molecular signal by chemoreceptors in a carotid body.


Primary Insomnia

description: A sleep disorder characterized by difficulty initiating or maintaining sleep; this difficulty does not occur in the context of another sleep disorder and is not etiologically linked to a mental disorder, substance use, or a general medical condition.


Cor triloculare

description: A congenital anatomic anomaly in which the heart has only three chambers.


name: Splenic Manifestation of Chronic Lymphocytic Leukemia

description: Infiltration of the spleen by chronic lymphocytic leukemia. It primarily involves the white pulp.


Kaposi's sarcoma of oral cavity

description: Kaposi sarcoma arising from the oral cavity.


Parotid Gland Lipoma

description: A lipoma that arises from the parotid gland.


name: symbiont-mediated suppression of host complement activation by complement sequestering

description: A process by which a symbiont prevents host complement activation by sequestering it away from its surface.


name: symbiont-mediated suppression of host complement activation

description: A process by which a symbiont inhibits or disrupts the normal execution of the activation of complement in its host. The host is defined as the larger of the organisms involved in a symbiotic interaction.


name: symbiont-mediated suppression of host complement activation by activation of host proteases

description: A process by which a symbiont prevents host complement activation by recruiting host proteases, destroying the complement before it has its effect on the symbiont.


name: symbiont-mediated suppression of host complement activation by recruitment of complement control protein

description: A process by which a symbiont prevents the activation of host complement by binding a soluble complement control protein (CCP) of the host and recruiting it to the microbe surface. The normal role of CCPs is to prevent complement activation on 'self' cellular targets. When soluble CCPs are recuited to the surface of a microbe, the complement fails to activate.


name: symbiont-mediated suppression of host complement activation by inactivation of complement proteins

description: A process by which a symbiont disrupts or prematurely activates host complement so that its microbial-destroying activities fail.


name: Ann Arbor Stage I Lymphocyte-Depleted Classic Hodgkin 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: Ann Arbor Stage I Supradiaphragmatic Lymphocyte-Depleted Classic Hodgkin Lymphoma


name: Ann Arbor Stage I Subdiaphragmatic Lymphocyte-Depleted Classic Hodgkin Lymphoma


Diaper Rash

description: An inflammatory skin condition in the diaper area that may be caused by irritation or infection.


Diaper candidiasis

description: An inflammatory skin condition in the diaper area superimposed with Candida infection, characterized by a bright red rash with a sharply demarcated edge and satellite lesions. Skin folds are often involved.


cellular hypotonic salinity response

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 detection of, or exposure to, a decrease in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment.


hypotonic salinity response

description: Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of detection of, or exposure to, a decrease in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment.


name: Stage IB Adult Soft Tissue Sarcoma AJCC v7


Congenital anomaly of tricuspid valve

description: A defect of the tricuspid valve present at birth.


name: polyphenic determination, influence by environmental factors

description: The process in which individuals that have the potential to develop any of several possible distinct developmental paths have their individual developmental fates determined in response to environmental cues.


name: caste determination, influence by environmental factors

description: The process in which individuals, having the potential to develop any of several distinct developmental paths, have their individual developmental fate determined in response to environmental cues. Individuals with distinct developmental fates perform different functions in a colony of social insects.


Midgut Neuroendocrine Tumor G1

description: A neuroendocrine tumor grade 1 that arises from the jejunum, ileum, proximal colon, or appendix.


name: Metastatic Midgut Neuroendocrine Tumor G1

description: A midgut neuroendocrine tumor G1 that has spread from its original site of growth to another anatomic site.


name: Locally Advanced Digestive System Neuroendocrine Tumor G3

description: Digestive system neuroendocrine tumor G3 that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Psoralen and long-wave ultraviolet radiation (PUVA) keratosis

description: A hyperkeratotic skin lesion that occurs in patients with a history of prolonged exposure to psoralen and ultraviolet A (PUVA) therapy.


Oral Cavity Mucosal Melanoma

description: A rare melanoma that arises from the oral cavity. It is associated with a poor prognosis.


Childhood Posterior Fossa Ependymoma

description: A posterior fossa ependymoma that occurs during childhood.


cellular response to L-canavanine

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 L-canavanine stimulus. L-canavanine is L-homoserine substituted at oxygen with a guanidino (carbamimidamido) group.


response to L-canavanine

description: Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a L-canavanine stimulus.


Adult Benign Brain Stem Neoplasm

description: A benign neoplasm of the brain stem occurring in adults.


Medullary Hemangioblastoma

description: A hemangioblastoma that arises from the medulla oblongata.


Childhood Brain Stem Gliosarcoma

description: A gliosarcoma that arises from the brain stem and occurs during childhood.


Childhood Brain Stem Mixed Glioma

description: A mixed glioma that arises from the brain stem and occurs during childhood.


name: Metastatic malignant neoplasm to brain stem

description: A malignant neoplasm that has spread from its original site of growth to the brain stem.


Recurrent Childhood Brain Stem Glioma

description: The reemergence of brain stem glioma in childhood after a period of remission.


Anaplastic Brain Stem Astrocytoma

description: An anaplastic astrocytoma that arises from the brain stem.


Brain Stem Glioblastoma

description: A glioblastoma that arises from the brain stem.


Anaplastic Brain Stem Glioma

description: An anaplastic glioma that arises from the brain stem.


name: cellular response to phosphate starvation

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 deprivation of phosphate.


Recurrent Acute Bilineal Leukemia

description: The reemergence of acute bilineal leukemia after a period of remission.


name: Recurrent Mixed Phenotype Acute Leukemia

description: The reemergence of mixed phenotype acute leukemia after a period of remission.


acute biphenotypic leukemia in relapse

description: The reemergence of acute biphenotypic leukemia after a period of remission.


name: Ampulla of Vater Neuroendocrine Tumor G3

description: A well differentiated, high grade neoplasm with neuroendocrine differentiation that arises from the ampulla of Vater and the periampullary region. The Ki-67 index is higher than 20%.


name: Low Risk Small Intestinal Gastrointestinal Stromal Tumor


name: Low Risk Esophageal Gastrointestinal Stromal Tumor


name: Low Risk Colorectal Gastrointestinal Stromal Tumor


name: Low Risk Gastric Gastrointestinal Stromal Tumor


name: Pancreatic Intraductal Papillary Mucinous Neoplasm, Pancreatobiliary-Type

description: A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form thin-branching papillae and exhibit high grade dysplasia.


name: Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type

description: A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that are similar to gastric foveolar epithelial cells.


name: Branch Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm

description: An intraductal papillary-mucinous neoplasm of the pancreas that arises in one of the branches of the main pancreatic duct.  It usually has an indolent behavior.


name: Mixed Type Pancreatic Intraductal Papillary-Mucinous Neoplasm

description: An intraductal papillary-mucinous neoplasm of the pancreas that arises primarily from the main pancreatic duct and extends to the branch ducts.


name: Pancreatic Intraductal Papillary Mucinous Neoplasm, Oncocytic-Type

description: A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells with abundant eosinophilic granular cytoplasm.


name: Main Duct Pancreatic Intraductal Papillary-Mucinous Neoplasm

description: An intraductal papillary-mucinous neoplasm of the pancreas that arises from the main pancreatic duct.


name: Pancreatic Intraductal Papillary Mucinous Neoplasm, Intestinal-Type

description: A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form tall papillae, similar to those that are present in colonic villous adenomas.


Advanced Rhabdoid Tumor

description: Rhabdoid tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.


Metastatic Rhabdoid Tumor

description: A rhabdoid tumor that has spread from the original site of growth to another anatomic site.


name: sialadenoma papilliferum of salivary gland

description: An uncommon exophytic papillary proliferation that involves mucosal surface epithelium and salivary duct epithelium. It is exceptional among salivary gland neoplasms because it manifests as an exophytic papillary excrescence of the mucosa, rather than as a submucosal or intraglandular mass. It most often affects the hard or soft palate.  It is generally asymptomatic.


name: Low Grade Malignant Peripheral Nerve Sheath Tumor

description: A malignant peripheral nerve sheath tumor that is low-grade.


name: response to meiotic cell cycle checkpoint signaling

description: A process that acts directly to delay or stop progression through the cell cycle in response to signals generated as a result of meiotic cell cycle checkpoint signaling; contributes to a meiotic cell cycle checkpoint.


name: response to meiotic spindle assembly checkpoint signaling

description: A process that occurs in response to signals generated as a result of meiotic spindle assembly checkpoint signaling.


name: response to meiotic DNA replication checkpoint signaling

description: A process that occurs in response to signals generated as a result of meiotic DNA replication checkpoint signaling.


name: Classic Hydroa Vacciniforme Lymphoproliferative Disorder

description: Hydroa vacciniforme lymphoproliferative disorder characterized by the presence of self-limited papulovesicular skin lesions in sun-exposed areas. There is no involvement of internal organs. It has an indolent course and usually affects White individuals.


Stage II Childhood Hodgkin Lymphoma

description: Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).


name: Refractory Paranasal Sinus Squamous Cell Carcinoma

description: Paranasal sinus squamous cell carcinoma that does not respond to treatment.


name: Refractory Head and Neck Squamous Cell Carcinoma

description: A head and neck squamous cell carcinoma that does not respond to treatment.


name: Refractory Sinonasal Squamous Cell Carcinoma

description: Nasal cavity and paranasal sinus squamous cell carcinoma that does not respond to treatment.


name: Refractory Oral Cavity Squamous Cell Carcinoma

description: Oral cavity squamous cell carcinoma that does not respond to treatment.


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

description: Cutaneous squamous cell carcinoma of the head and neck that does not respond to treatment.


Hodgkin's lymphoma of small intestine

description: A Hodgkin lymphoma that arises from the small intestine.


name: Resectable Pancreatic Acinar Cell Carcinoma

description: Pancreatic acinar cell carcinoma that is amenable to surgical resection.


Pancreas carcinoma resectable

description: Carcinoma of the pancreas amenable to surgical removal.


name: Borderline Resectable Pancreatic Ductal Adenocarcinoma

description: A pancreatic ductal adenocarcinoma term that refers to a continuum between resectable and locally advanced unresectable disease.


Pancreatic adenocarcinoma resectable

description: Pancreatic adenocarcinoma that is amenable to surgical resection.


name: Resectable Pancreatic Ductal Adenocarcinoma

description: Pancreatic ductal adenocarcinoma amenable to surgical resection.


name: Resectable Pancreatic Adenosquamous Carcinoma

description: Pancreatic adenosquamous carcinoma that is amenable to surgical resection.


name: Stage I Lip and Oral Cavity Cancer AJCC v8

description: Stage I includes: T1, N0, M0.  T1: Tumor size 2 cm or less in greatest dimension and 5 mm or less depth of invasion (DOI).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 8th Ed.)


Brain Pilocytic Astrocytoma

description: Pilocytic astrocytoma that arises from the brain.


Third Ventricle Pilocytic Astrocytoma

description: A pilocytic astrocytoma occurring in the third ventricle.


name: Hemolytic anemia due to disseminated intravascular coagulation


Anemia due to membrane defect

description: A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis.


Immune Hemolytic Anemia

description: An acquired anemia resulting from immune-mediated destruction of the red blood cells. Causes include autoimmune disorders, blood transfusions, and drugs.


Anemia, Hemolytic, Acquired

description: Hemolytic anemia, the cause of which is not present at birth.


Infantile pyknocytosis

description: A rare, neonatal syndrome characterized by early jaundice that becomes rapidly associated with severe hemolytic anemia. The peripheral blood smear is remarkable for small irregular, contracted red blood cells with hyper-dense spikes (pyknocytes), that progressively increase in number and then spontaneously disappear.


Refractory Lymphomatoid Granulomatosis

description: Lymphomatoid granulomatosis that is resistant to treatment.


name: Angiocentric immunoproliferative lesion grade 2

description: Lymphomatoid granulomatosis characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.


name: Central Nervous System Lymphomatoid Granulomatosis

description: Lymphomatoid granulomatosis that affects the brain, spinal cord, and leptomeninges.


Cutaneous Lymphomatoid Granulomatosis

description: Lymphomatoid granulomatosis that affects the skin.


Childhood Lymphomatoid Granulomatosis

description: Lymphomatoid granulomatosis that occurs during childhood.


telomere single strand break repair

description: Single strand break repair that takes place in a telomere.


name: High Grade Anal Canal Intraepithelial Neoplasia

description: Intraepithelial neoplasia involving the anal canal.  The epithelial cells exhibit moderate dysplasia (grade II intraepithelial neoplasia) or severe dysplasia (grade III intraepithelial neoplasia or carcinoma in situ).


name: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6

description: A lipid transport disorder characterized by extremely elevated levels of high density lipoprotein cholesterol (HDL C; HDLC). It is caused by heterozygous mutations in the SCARB1 gene that result in decreased transport of HCL C into the liver by scavenger receptor class B member 1.


name: humoral immune response mediated by circulating immunoglobulin

description: An immune response dependent upon secreted immunoglobulin. An example of this process is found in Mus musculus.


Refractory Neuroblastoma

description: A neuroblastoma that does not respond to treatment.


name: Reactive Hyperplasia of the Retinal Pigment Epithelium

description: A reactive, non-neoplastic hyperplasia of the retinal pigment epithelium.


nonassociative learning

description: A simple form of learning whereby the repeated presence of a stimulus leads to a change in the probability or strength of the response to that stimulus. There is no association of one type of stimulus with another, rather it is a generalized response to the environment.


dishabituation

description: The temporary recovery of response to a stimulus when a novel stimulus is added.


sensitization

description: An increased in a behavioral response to a repeated stimulus. For example, a shock to the tail of the marine snail Aplysia, to which the snail responds by withdrawing its gill, will result in increased gill withdrawal the next time the skin is touched.


habituation

description: A decrease in a behavioral response to a repeated stimulus. This is exemplified by the failure of a person to show a startle response to a loud noise that has been repeatedly presented.


cellular response to streptomycin

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 streptomycin stimulus. Streptomycin is a commonly used antibiotic in cell culture media which acts only on prokaryotes and blocks transition from initiation complex to chain elongating ribosome.


Non-toxic multinodular goiter

description: A multinodular goiter that is not associated with changes in thyroid function or malignancy.


Multinodular Endemic Goiter

description: A multinodular goiter caused by inadequate iodine intake.


Adult Leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, occurring in adults.  It is characterized by a proliferation of neoplastic spindle cells.


Penile Leiomyosarcoma

description: A leiomyosarcoma that occurs in the penis.


Unresectable Leiomyosarcoma

description: A leiomyosarcoma which is not amenable to surgical resection.


Dedifferentiated Leiomyosarcoma

description: A pleomorphic leiomyosarcoma that lacks immunohistochemical staining for myogenic markers in the pleomorphic areas.


name: Stage IVB Uterine Corpus Leiomyosarcoma AJCC v8

description: Stage IVB includes: Any T, Any N, M1. M1: M1: Distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)


Pancreatic Leiomyosarcoma

description: A rare leiomyosarcoma that arises from the pancreas.


Head and Neck Leiomyosarcoma

description: A malignant neoplasm with smooth muscle differentiation that arises from the head and neck. The most frequently affected sites are the subcutaneous and deep neck soft tissues.


name: Stage IIIA Uterine Corpus Leiomyosarcoma AJCC v8

description: Stage IIIA includes: T3a, N0, M0. T3a: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues at one site. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


name: Stage I Uterine Corpus Leiomyosarcoma AJCC v8

description: Stage I includes: T1, N0, M0. T1: Uterine corpus leiomyosarcoma with tumor limited to the uterus. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


name: Stage IV Uterine Corpus Leiomyosarcoma AJCC v8

description: Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Uterine corpus leiomyosarcoma with tumor invading bladder or rectum. M0: No distant metastasis. M1: Distant metastasis (excluding adnexa, pelvic, and abdominal tissues). (from AJCC 8th Ed.)


Primary leiomyosarcoma

description: Leiomyosarcoma that is confined to a specific site without evidence of spread to other anatomic sites.


EBV-Related Leiomyosarcoma

description: Leiomyosarcoma that is caused by Epstein-Barr virus infection.


Inferior Vena Cava Leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the inferior vena cava.  It is characterized by a proliferation of neoplastic spindle cells.


Metastatic leiomyosarcoma

description: A leiomyosarcoma that has spread to other anatomic sites.


leiomyosarcoma of appendix

description: A rare leiomyosarcoma that arises from the appendiceal wall.


Unresectable Soft Tissue Leiomyosarcoma

description: A soft tissue leiomyosarcoma that is not amenable to surgical resection.


name: Stage IVA Uterine Corpus Leiomyosarcoma AJCC v8

description: Stage IVA includes: T4, Any N, M0. T4: Uterine corpus leiomyosarcoma with tumor invading bladder or rectum. M0: No distant metastasis. (from AJCC 8th Ed.)


Conjunctival Leiomyosarcoma

description: A leiomyosarcoma that arises from the conjunctiva.


Seminal Vesicle Leiomyosarcoma

description: A rare leiomyosarcoma that affects the seminal vesicle.


name: Stage IB Uterine Corpus Leiomyosarcoma AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Uterine corpus leiomyosarcoma with tumor limited to the uterus, measuring more than 5 cm in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Pleomorphic leiomyosarcoma

description: A leiomyosarcoma characterized by the presence of poorly differentiated areas with pleomorphic appearance, in addition to areas with typical morphologic features.


Refractory Leiomyosarcoma

description: Leiomyosarcoma that does not respond to treatment.


Leiomyosarcoma of Vessels

description: An aggressive malignant smooth muscle neoplasm, arising from the walls of the vascular system.  It is characterized by a proliferation of neoplastic spindle cells.


leiomyosarcoma of bladder

description: A leiomyosarcoma that arises from the bladder. It is the most common type of bladder sarcoma in adults.


Broad Ligament Leiomyosarcoma

description: A rare leiomyosarcoma that arises from the broad ligament.


name: Unresectable Uterine Corpus Leiomyosarcoma

description: Uterine corpus leiomyosarcoma that is not amenable to surgical resection.


Advanced Soft Tissue Leiomyosarcoma

description: A soft tissue leiomyosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Stage IIIB Uterine Corpus Leiomyosarcoma AJCC v8

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


name: Uterine Corpus Leiomyosarcoma by AJCC v8 Stage

description: A term that refers to the staging of uterine corpus leiomyosarcoma according to the American Joint Committee on Cancer, 8th edition.


name: Stage IIIC Uterine Corpus Leiomyosarcoma AJCC v8

description: Stage IIIC includes: T1-3, N1, M0. T1: Uterine corpus leiomyosarcoma with tumor limited to the uterus. T2: Uterine corpus leiomyosarcoma with tumor extending beyond the uterus, within the pelvis. T3: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Childhood Leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, occurring in children.  It is characterized by a proliferation of neoplastic spindle cells.


Leiomyosarcoma recurrent

description: The reemergence of leiomyosarcoma after a period of remission


name: Locally Recurrent Uterine Corpus Leiomyosarcoma

description: The reemergence of uterine corpus leiomyosarcoma after a period of remission, at or adjacent to the site of the original tumor.


name: Stage III Uterine Corpus Leiomyosarcoma AJCC v8

description: Stage III includes: IIIA: T3a, N0, M0; IIIB: T3b, N0, M0; IIIC: T1-3, N1, M0. T1: Uterine corpus leiomyosarcoma with tumor limited to the uterus. T2: Uterine corpus leiomyosarcoma with tumor extending beyond the uterus, within the pelvis. T3: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues. T3a: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues at one site. T3b: Uterine corpus leiomyosarcoma with tumor infiltrating abdominal tissues at more than one site. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Thyroid Gland Leiomyosarcoma

description: A leiomyosarcoma that arises from the thyroid gland.


name: Metastatic Uterine Corpus Leiomyosarcoma

description: Uterine corpus leiomyosarcoma that has spread from its original site of growth to another anatomic site.


name: Locally Advanced Uterine Corpus Leiomyosarcoma

description: Uterine corpus leiomyosarcoma that has spread to nearby tissues or lymph nodes.


Colorectal Leiomyosarcoma

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


Metastatic Soft Tissue Leiomyosarcoma

description: A soft tissue leiomyosarcoma that has spread from the original site of growth to another anatomic site.


Sinonasal Leiomyosarcoma

description: A leiomyosarcoma that arises from the nasal cavity and paranasal sinuses.


Well Differentiated Leiomyosarcoma

description: Grade I malignant smooth muscle neoplasm.  It is characterized by a proliferation of neoplastic spindle cells.


name: Stage IA Uterine Corpus Leiomyosarcoma AJCC v8

description: Stage IA includes: T1a, N0, M0. T1a: Uterine corpus leiomyosarcoma with tumor limited to the uterus, measuring 5 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Digestive System Leiomyosarcoma

description: A leiomyosarcoma arising from an anatomic site in the digestive system.


Resectable Leiomyosarcoma

description: Leiomyosarcoma that is amenable to surgical resection.


Advanced Leiomyosarcoma

description: A leiomyosarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Locally Advanced Soft Tissue Leiomyosarcoma

description: Soft tissue leiomyosarcoma that has spread to nearby tissues or lymph nodes.


Locally Advanced Leiomyosarcoma

description: A leiomyosarcoma that has spread from its original site of growth to nearby tissues or lymph nodes.