name: Unresectable Paratesticular Biphasic Mesothelioma

description: Paratesticular biphasic mesothelioma that is not amenable to surgical resection.


Paratesticular Sarcomatoid Mesothelioma

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

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


name: Unresectable Peritoneal Sarcomatoid Mesothelioma

description: Peritoneal sarcomatoid mesothelioma that is not amenable to surgical resection.


pleural biphasic mesothelioma

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


Advanced Epithelioid Mesothelioma

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


sarcomatoid mesothelioma

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


pleural sarcomatoid mesothelioma

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


Paratesticular Biphasic Mesothelioma

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


name: Unresectable Pleural Epithelioid Mesothelioma

description: Pleural epithelioid mesothelioma that is not amenable to surgical resection.


Recurrent Epithelioid Mesothelioma

description: The reemergence of epithelioid mesothelioma after a period of remission.


pleural epithelioid mesothelioma

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


name: Unresectable Peritoneal Biphasic Mesothelioma

description: Peritoneal biphasic mesothelioma that is not amenable to surgical resection.


Peritoneal Sarcomatoid Mesothelioma

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


malignant epithelioid mesothelioma

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


oculocutaneous albinism type 4

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


name: Penile squamous cell carcinoma metastatic

description: Squamous cell carcinoma of the penis that has spread from its original site of growth to another anatomic site.


name: Locally Advanced Penile Squamous Cell Carcinoma

description: Penile squamous cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Childhood Protoplasmic Astrocytoma

description: A protoplasmic astrocytoma that occurs during childhood.


name: Recurrent Childhood Protoplasmic Astrocytoma

description: The reemergence of protoplasmic astrocytoma in childhood after a period of remission.


name: Malignant fibrous histiocytoma recurrent

description: Reemergence of undifferentiated pleomorphic sarcoma after a period of remission.


circadian regulation of translation

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

description: Any process that modulates the frequency, rate or extent of mRNA translation with a regularity of approximately 24 hours.


name: male pseudohermaphroditism due to defective lh molecule


paroxysmal dyskinesia, domestic cat

description: Paroxysmal dyskinesia that occurs in domestic cat.


name: Reoviridae infectious disease, non-human animal

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


bluetongue

description: A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet.


African horse sickness

description: An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck.


Hard Palate Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the hard palate.  It usually presents as a papillary or exophytic mass.


Squamous cell carcinoma of palate

description: A squamous cell carcinoma that arises from the hard or soft palate.


sebaceous gland neoplasm

description: A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.


sebaceous gland cancer

description: A cancer that involves the sebaceous gland.


benign neoplasm of sebaceous gland

description: A benign neoplasm that involves the sebaceous gland.


radiculitis, non-human animal

description: Radiculitis that occurs in non-human animals.


Gastric Granular Cell Tumor

description: A benign or malignant granular cell tumor that arises from the stomach.


Benign Gastric Granular Cell Tumor

description: A granular cell tumor that arises from the stomach and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


TARP syndrome

description: A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.


Stage IV Penile Cancer AJCC v6

description: Stage IV includes: (T4, Any N, M0); (Any T, N3, M0); (Any T, Any N, M1).  T4: Tumor invades other adjacent structures.  N3: Metastasis in deep inguinal or pelvic lymph node(s) unilateral or bilateral.  M1: Distant metastasis.  (AJCC 6th ed.)


Penile Cancer by AJCC v6 Stage

description: A term that refers to the staging of penile carcinoma according to the American Joint Committee on Cancer, 6th edition.


Stage III Penile Cancer AJCC v6

description: Stage III includes: (T1, N2, M0); (T2, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0).  T1: Tumor invades subepithelial connective tissue.  T2: Tumor invades corpus spongiosum or cavernosum.  T3: Tumor invades urethra or prostate.  N0: No regional lymph node metastasis.  N1: Metastasis in single superficial, inguinal lymph node. N2: Metastasis in multiple or bilateral superficial inguinal lymph nodes.  M0: No distant metastasis. (AJCC 6th ed.)


Stage I Penile Cancer AJCC v6

description: Stage I includes: (T1, N0, M0).  T1: Tumor invades subepithelial connective tissue.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th ed.)


Stage II Penile Cancer AJCC v6

description: Stage II includes: (T1, N1, M0); (T2, N0, M0); (T2, N1, M0).  T1: Tumor invades subepithelial connective tissue.  N0: No regional lymph node metastasis.  N1: Metastasis in a single superficial, inguinal lymph node.  M0: No distant metastasis. (AJCC 6th ed.)


Stage 0 Penile Cancer AJCC v6

description: Stage 0 includes: (Tis, N0, M0) and (Ta, N0, M0).  Tis: Carcinoma in situ.  Ta: Non-invasive verrucous carcinoma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th ed.)


acute cholinergic dysautonomia

description: A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset.


primary dysautonomia

description: Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.


cellular response to vitamin B6

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 vitamin B6 stimulus. Vitamin B6 encompasses pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate.


response to vitamin B6

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 vitamin B6 stimulus. Vitamin B6 encompasses pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate.


chromosome 17p deletion

description: A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.


distal 17p13.3 microdeletion syndrome

description: Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.


chromosome 17q12 deletion syndrome

description: 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.


distal 17p13.1 microdeletion syndrome

description: Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.


name: chromosome 17q23.1-q23.2 deletion syndrome

description: 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.


name: Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome


name: chromosome 17q11.2 deletion syndrome, 1.4Mb

description: A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.


name: partial deletion of the long arm of chromosome 17


name: hereditary neuropathy with liability to pressure palsies

description: Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.


distal monosomy 17q

description: Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).


17q24.2 microdeletion syndrome

description: A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.


description: L-2-hydroxyglutaricacidemia that occurs in non-human animals.


description: L-2-hydroxyglutaricacidemia that occurs in domestic cat.


L-2-hydroxyglutaricacidemia, dog

description: L-2-hydroxyglutaricacidemia that occurs in dog.


inherited cutis laxa

description: An instance of cutis laxa that is inherited.


cutis laxa, autosomal dominant 1

description: Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.


autosomal recessive cutis laxa type 2

description: A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).


ALDH18A1-related de Barsy syndrome

description: ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.


cutis laxa, autosomal dominant 3

description: An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.


occipital horn syndrome

description: Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.


name: cutis laxa, autosomal recessive, type 2E


wrinkly skin syndrome

description: A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).


acquired cutis laxa

description: An instance of cutis laxa that is acquired during the lifetime of the individual.


name: cutis laxa, autosomal recessive, type 1B

description: An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.


geroderma osteodysplastica

description: Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.


name: cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

description: A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13


craniofaciofrontodigital syndrome

description: Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).


name: autosomal recessive cutis laxa type 2, classic type


autosomal dominant cutis laxa

description: Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.


autosomal recessive cutis laxa type 2D

description: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.


name: cutis laxa, autosomal recessive, type 1A

description: An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.


arterial tortuosity syndrome

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


autosomal recessive cutis laxa type 2B

description: Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.


RIN2 syndrome

description: RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.


name: cutis laxa, autosomal recessive, type 1d


PYCR1-related de Barsy syndrome

description: Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.


autosomal recessive cutis laxa type 2A

description: An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.


autosomal recessive cutis laxa type 1

description: Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).


cutis laxa, autosomal dominant 2

description: Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.


autosomal recessive cutis laxa type 2C

description: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.


Paratesticular Leiomyosarcoma

description: A leiomyosarcoma that arises from the paratesticular region.


name: cellular congenital mesoblastic nephroma

description: A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.


name: microcephaly 22, primary, autosomal recessive


name: chromosome Xp11.23-p11.22 duplication syndrome

description: A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.


chromosome X disorder

description: Chromosomal disorder in which chromosome X is affected.


name: paternal uniparental disomy of chromosome X


description: X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.


name: maternal uniparental disomy of chromosome X


name: X-linked diffuse leiomyomatosis-Alport syndrome

description: A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.


name: partial duplication of the long arm of chromosome X

description: Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.


name: partial monosomy of the short arm of chromosome X


Xq27.3q28 duplication syndrome

description: Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.


name: X-linked acrogigantism due to Xq26 microduplication


49,XXXYY syndrome

description: 49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.


tetrasomy X

description: Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).


name: partial deletion of the long arm of chromosome X


Xq12-q13.3 duplication syndrome

description: Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.


Xp22.3 microdeletion syndrome

description: Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.


X small rings

description: X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.


name: atypical Norrie disease due to monosomy Xp11.3

description: Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.


distal Xq28 microduplication syndrome

description: Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.


description: X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.


name: partial duplication of the short arm of chromosome X


Vaginal Germ Cell Tumor

description: A germ tumor that arises from the vagina.


Vaginal Dermoid Cyst

description: A rare benign cystic teratoma that arises from the vagina. It presents as a slow growing cyst in the vaginal wall that contains sebaceous material and hair. The cyst is lined by squamous epithelium. Skin adnexal structures and sometimes smooth and skeletal muscle are present.


cellular response to interleukin-12

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 interleukin-12 stimulus.


response to interleukin-12

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 an interleukin-12 stimulus.


name: modulation by symbiont of host salicylic acid-mediated defense response

description: Any process in which a symbiont modulates the frequency, rate or extent of the salicylic acid-mediated defense response of the host organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.


name: symbiont-mediated suppression of defense-related host salicylic acid-mediated signal transduction pathway

description: A process in which a virus interferes with, inhibits or disrupts a host salicylic acid-mediated signal transduction pathways during the host defense response. The host is defined as the larger of the organisms involved in a symbiotic interaction.


name: effector-mediated suppression of host salicylic acid-mediated innate immune signaling

description: A process mediated by a molecule secreted by a symbiont that results in the suppression of host salicylic acid-mediated innate immune signaling.


name: autosomal dominant cerebellar ataxia, deafness and narcolepsy

description: Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.


epithelioid cell synovial sarcoma

description: A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures.


primary hyperoxaluria type 2

description: Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.


name: Disseminated varicella zoster vaccine virus infection

description: A rare systemic and life-threatening infection associated with vaccination with the live attenuated strain of the Varicella-zoster virus, Oka.


Gonadal Myoid Stromal Tumor

description: A rare, benign, well-circumscribed tumor that arises from the testis. It is characterized by the presence of fascicles of spindle cells showing muscle cell differentiation. It lacks sex cord differentiation.


tuberculosis, bovine

description: An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals.


name: hereditary hypotrichosis with recurrent skin vesicles

description: Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.


acquired lactic acidosis

description: An instance of lactic acidosis that is acquired during the lifetime of the individual.


Duodenal Adenoma

description: A circumscribed neoplasm that arises from the glandular epithelium of the duodenum. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous.


Benign Periampullary Neoplasm

description: A neoplasm that arises from the periampullary region and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential..


Atypical Type A Thymoma

description: A rare type A thymoma displaying atypical features (hypercellularity, increased mitotic activity, and focal necrosis).


name: Pathologic Stage I Merkel Cell Carcinoma AJCC v8

description: Stage I includes: T1, N0, M0. T1: Maximum clinical tumor diameter equal to or less than 2 cm. N0: No regional lymph node metastasis detected on pathologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)


LADD syndrome 1

description: Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.


cataract 44

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.


Cellular neurothekeoma

description: A nerve sheath myxoma with increased cellularity.


name: cutaneous undifferentiated pleomorphic sarcoma

description: An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.


anaplastic sarcoma of the kidney

description: A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures.


name: autosomal recessive limb-girdle muscular dystrophy type 2Q

description: Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.


Gastric dysplasia

description: A intraepithelial neoplasia (dysplasia) that arises in either the native gastric mucosa or in metaplastic gastric epithelium.  It has a flat, polypoid or slightly depressed growth pattern.  It is graded as low grade (mild dysplasia) or high grade (moderate dysplasia and carcinoma in situ).  (WHO, 2000)


peroxisome biogenesis disorder 7B

description: An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


dioctophymiasis

description: A disease caused by infection with Dioctophyme renale.


Enoplea infectious disease

description: Infections with nematodes of the order enoplida.


trichuriasis

description: An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea.


trichinellosis

description: A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.


capillariasis

description: A infectious disease involving the Capillaria.


Trichinella spiralis infectious disease

description: An disease or disorder caused by infection with Trichinella spiralis.


name: heterotaxy, visceral, 10, autosomal, with male infertility


name: malignant central nervous system mesenchymal, non-meningothelial neoplasm

description: A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.


name: central nervous system melanocytic neoplasm

description: A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.


name: central nervous system extraskeletal osteosarcoma

description: An osteosarcoma arising from the brain or spinal cord.


diencephalic cancer

description: A cancer involving a diencephalon.


meningeal melanomatosis

description: A meningeal melanoma with secondary diffuse meningeal spread. (WHO)


name: rhabdoid tumor predisposition syndrome 2

description: Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.


cerebral sarcoma

description: A sarcoma involving a telencephalon.


cerebral lymphoma

description: A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.


name: primary intracranial sarcoma, DICER1-mutant

description: A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.


meningeal sarcoma

description: A rare sarcoma arising from the meninges.


malignant leptomeningeal tumor

description: A primary or metastatic malignant tumor involving the leptomeninges.


anaplastic meningioma

description: A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).


skin meningioma

description: A meningioma (disease) that involves the zone of skin.


parasagittal meningioma

description: A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.


choroid plexus meningioma

description: A meningioma that affects the choroid plexus.


intraventricular meningioma

description: A meningioma that affects the ventricles of the brain.


spinal meninges cancer

description: A malignant neoplasm involving the meninx of spinal cord.


name: primary melanoma of the central nervous system

description: A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.


pineal gland cancer

description: Abnormal malignant growth of the cells that comprise the pineal parenchyma.


adult leptomeningeal melanoma

description: A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.


cerebral hemisphere cancer

description: A cancer that involves the cerebral hemisphere.


childhood brain stem neoplasm

description: A neoplasm that affects the brain stem and occurs during childhood.


cerebellopontine angle embryonal tumor

description: A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain.


lateral ventricle meningioma

description: A meningioma that affects the lateral ventricle of the brain.


primary skin meningioma

description: A rare extracranial meningioma that arises from the skin.


malignant carotid body paraganglioma

description: A carotid body paraganglioma that metastasizes to other anatomic sites.


brainstem cancer

description: A primary or metastatic malignant neoplasm that affects the brain stem.


meningeal melanocytoma

description: A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.


paragangliomas 5

description: Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.


frontal convexity meningioma

description: A meningioma that affects the frontal sulcus.


infratentorial cancer

description: Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.


central nervous system sarcoma

description: A sarcoma that arises from the central nervous system.


name: cerebral primitive neuroectodermal tumor

description: A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres.


cancer of cerebellum

description: A cancer that involves the cerebellum.


name: intracranial extraskeletal myxoid chondrosarcoma

description: An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.


intracerebral cystic meningioma

description: A cystic meningioma that grows within the cerebral hemispheres.


cerebral ventricle cancer

description: A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.


name: embryonal tumor with multilayered rosettes

description: A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a DICER1 mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life.


thalamic cancer

description: A cancer involving a dorsal plus ventral thalamus.


parietal lobe cancer

description: A malignant neoplasm involving the parietal lobe


cerebral convexity meningioma

description: A meningioma that affects the cerebral sulcus.


pituitary cancer

description: A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.


leptomeningeal sarcoma

description: A sarcoma arising from the leptomeninges.


brain sarcoma

description: A sarcoma arising from the brain.


diffuse meningeal melanocytosis

description: A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)


cerebral meningioma

description: A meningioma that affects the cerebral hemispheres.


central nervous system rhabdomyosarcoma

description: A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system.


leptomeningeal melanoma

description: A melanoma that arises from leptomeningeal melanocytes.


malignant jugulotympanic paraganglioma

description: A jugulotympanic paraganglioma that metastasizes to other anatomic sites.


sarcomatosis of the meninges

description: A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis.


central nervous system angiosarcoma

description: A malignant vascular neoplasm arising from the brain, spinal cord or meninges.


choroid plexus cancer

description: A malignant neoplasm involving the choroid plexus


paragangliomas 4

description: Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene.


malignant tumor of meninges

description: A cancer that involves the meningeal cluster.


central nervous system leiomyosarcoma

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


paragangliomas 2

description: Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene.


pediatric leptomeningeal melanoma

description: A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.


name: central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor

description: A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.


name: short ulna-dysmorphism-hypotonia-intellectual disability syndrome


retinitis pigmentosa 27

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


Stage I Ureter Cancer AJCC v8

description: Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage I Renal Pelvis and Ureter Cancer AJCC v8


median nodule of the upper lip

description: Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.


name: Stage III Intermediate Grade Adult Non-Hodgkin's Lymphoma


variola minor infection

description: A orthopoxvirus that causes a milder clinical syndrome than smallpox.


name: PRKAR1A-Inactivated Pigmented Epithelioid Melanocytoma

description: A pigmented epithelioid melanocytoma that is associated with PRKAR1A gene inactivation.


Timothy syndrome type 2

description: Classical Timothy syndrome without cutaneous syndactyly.


long QT syndrome 9

description: Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.


Timothy syndrome type 1

description: Classical Timothy syndrome with cutaneous syndactyly.


long QT syndrome 10

description: Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.


Jervell and Lange-Nielsen syndrome 1

description: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.


long QT syndrome 6

description: Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.


Timothy syndrome, atypical type

description: Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death.


Jervell and Lange-Nielsen syndrome 2

description: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.


long QT syndrome 13

description: Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.


long QT syndrome 15

description: Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.


Timothy syndrome, classic type

description: Classic form of Timothy syndrome, includes all features of generic.


name: ectopia lentis 2, isolated, autosomal recessive

description: An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.


Stage IIIC Eyelid Carcinoma AJCC v7

description: Stage IIIC includes: T4, Any N, M0.  T4: Tumor is not resectable due to extensive invasion of ocular, orbital, craniofacial structures, or brain.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IIA Eyelid Carcinoma AJCC v8

description: Stage IIA includes: T2b-c, T3, N0, M0: T2b: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. T2c: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. T3: Tumor measuring more than 20 mm but 30 mm or less in greatest dimension. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Eyelid Carcinoma AJCC v7

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IIIB Eyelid Carcinoma AJCC v7

description: Stage IIIB includes: Any T, N1, M0.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage II Eyelid Carcinoma AJCC v7

description: Stage II includes: T3a, N0, M0.  T3a: Tumor more than 20 mm in greatest dimension.  Or, any tumor that invades adjacent ocular or orbital structures.  Or, any T with perineural tumor invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IC Eyelid Carcinoma AJCC v7

description: Stage IC includes: T2b, N0, M0.  T2b: Tumor more than 10 mm, but not more than 20 mm in greatest dimension.  Or, tumor involves full thickness of the eyelid.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage IIIB Eyelid Carcinoma AJCC v8

description: Stage IIIB includes: Any T, N2, M0. N2: Metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage I Eyelid Carcinoma AJCC v8

description: Stage I includes: IA: T1, N0, M0; IB: T2a, N0, M0. T1: Tumor measuring 10 mm or less in greatest dimension. T2a: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Basal cell carcinoma of eyelid

description: A basal cell carcinoma that arises from the eyelid.


Stage IIIA Eyelid Carcinoma AJCC v8

description: Stage IIIA includes: Any T, N1, M0. N1: Metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 8th ed.)


Stage IB Eyelid Carcinoma AJCC v7

description: Stage IB includes: T2a, N0, M0.  T2a: Tumor more than 5 mm, but not more than 10 mm in greatest dimension.  Or, any tumor that invades the tarsal plate or eyelid margin.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage IV Eyelid Carcinoma AJCC v7

description: Stage IV includes: Any T, Any N, M1.  M1: Distant metastasis.  (AJCC 7th ed.)


Stage IIB Eyelid Carcinoma AJCC v8

description: Stage IIB includes: T4, N0, M0. T4: Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Eyelid Carcinoma by AJCC v8 Stage

description: A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all primary carcinomas of the eyelid, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), sebaceous carcinoma, and other rare carcinomas, such as all varieties of sweat gland carcinoma (e.g., eccrine carcinoma). It does not apply to carcinomas of the head and neck with direct extension to eyelid (are staged according to the cutaneous squamous cell carcinomas of the head and neck), Merkel cell carcinomas of the eyelid (are staged according to the classification for Merkel cell carcinomas), and melanomas of the eyelid (are staged according to the classification for melanomas of the skin).  (from AJCC 8th Ed.)


Stage 0 Eyelid Carcinoma AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IIIA Eyelid Carcinoma AJCC v7

description: Stage IIIA includes: T3b, N0, M0.  T3b: Complete tumor resection requires enucleation, exenteration, or bone resection.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Eyelid Carcinoma by AJCC v7 Stage

description: A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 7th edition.


Stage IA Eyelid Carcinoma AJCC v7

description: Stage IA includes: T1, N0, M0.  T1: Tumor 5 mm or less in greatest dimension.  No invasion of the tarsal plate or eyelid margin.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage II Eyelid Carcinoma AJCC v8

description: Stage II includes: IIA: T2b-c, T3, N0, M0; IIB: T4, N0, M0. T2b: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. T2c: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. T3: Tumor measuring more than 20 mm but 30 mm or less in greatest dimension. T4: Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage III Eyelid Carcinoma AJCC v8

description: Stage III includes: IIIA: Any T, N1, M0; IIIB: Any T, N2, M0. N1: Metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage IB Eyelid Carcinoma AJCC v8

description: Stage IB includes: T2a, N0, M0. T2a: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IA Eyelid Carcinoma AJCC v8

description: Stage IA includes: T1, N0, M0. T1: Tumor measuring 10 mm or less in greatest dimension. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IV Eyelid Carcinoma AJCC v8

description: Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


spina bifida cystica

description: A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


posterior meningocele

description: Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region.


true myelomeningocele

description: A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation).


name: saccular spinal dysraphism with a stalk to the dome

description: A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation).


hemi-myelomeningocele

description: A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele.


non-terminal myelocystocele

description: A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis.


papillary meningioma of the cerebellum

description: A papillary meningioma that affects the cerebellum.


name: Stage II Uterine Corpus Leiomyosarcoma AJCC v8

description: Stage II includes: T2, N0, M0. T2: Uterine corpus leiomyosarcoma with tumor extending beyond the uterus, within the pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Tooth Infection

description: An infectious process affecting a tooth.


Non-Neoplastic Dental Disorder

description: A non-neoplastic disorder that affects the teeth and/or the periodontal tissues.  Representative examples include odontoma, enamel hypoplasia, and periodontitis.


Cemento-osseous dysplasia

description: A non-neoplastic fibro-osseous lesion of the tooth-bearing regions of the gnathic bones. It is characterized by a variably cellular fibrous stroma with areas of swirling and/or loose collagen. Within the stroma are mineralizing tissues consisting of osteoid, bone, and cementum-like material. As the lesions mature, they become increasingly calcified. (WHO 2017)


acute pericementitis

description: An acute inflammatory process that affects the tissues that surround and support the teeth.


suppurative periapical periodontitis

description: Localized collection of pus in the tissues that enclose the root of a tooth.


periodontal disorder

description: An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support.


Odontoma, Compound

description: A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. It usually affects children and adolescents. It is characterized by the presence of tooth-like structures. Treatment consists of local excision. Recurrences have not been reported.


Periodontal infection

description: An infectious process affecting the tissues that surround and support the teeth.


Dental disorders congenital

description: A non-neoplastic dental disorder that is present at birth.


Dental pain and sensation disorders

description: A term that refers to disorders that result in pain and abnormal sensation in the teeth and/or periodontal tissues.


florid cemento-osseous dysplasia

description: Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw.


Gigantiform Cementoma

description: An extremely rare, benign, rapidly progressing fibro-osseous lesion that arises from the jaws as a multifocal expansile growth in children or adolescents. It results in significant deformity, orbital distortion, and possible airway involvement. An autosomal dominant inheritance has been proposed. Histologically, it is characterized by the presence of immature bony trabeculae and cementum-like calcifications within a hypercellular fibroblastic stroma. It shares morphological features with florid cemento-osseous dysplasia, but in florid cemento-osseous dysplasia the degree of expansion is less prominent and patients are usually older.


Periodontal Abscess

description: An acute purulent bacterial infection that arises from the tissues that surround and support the teeth.


Dental and Periodontal Infection

description: An infectious process that affects the teeth and/or the periodontal tissues.


chronic periodontitis

description: A chronic inflammatory process that affects the tissues that surround and support the teeth.


Segmental Odontomaxillary Dysplasia

description: A developmental abnormality that is characterized by segmental enlargement in the premolar/molar region of the maxilla and associated with dento-osseous abnormalities.


Periapical Cemento-Osseous Dysplasia

description: Cemento-osseous dysplasia affecting the apical areas of mandibular anterior teeth. (WHO 2017)


Chronic pericoronitis

description: Long-term inflammation of the gingiva surrounding the crown of a tooth, usually of an incompletely erupted tooth.


Dental Developmental Disorder

description: A disorder of the teeth arising during odontogenesis.


Dental Fistula

description: Localized collection of pus in the tissues that enclose the root of a tooth and is associated with the presence of a sinus tract.


Complex odontoma

description: A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. It is one of the most common odontogenic tumors and it usually affects children, adolescents, and young adults. It is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur.


name: Polymorphic lymphoproliferative disorder following transplant

description: A clonal B-cell lymphoproliferative disorder arising as a result of post-transplant immunosuppression therapy. It is characterized by destructive infiltration of lymph nodes and extranodal sites by a polymorphic B-cell infiltrate composed of small and medium sized lymphocytes, immunoblasts, and plasma cells. In some cases, reduction of the immunosuppression therapy may lead to regression of the lesions. In other cases the lesions may progress to lymphoma.


name: Refractory Polymorphic Post-Transplant Lymphoproliferative Disorder

description: A polymorphic post-transplant lymphoproliferative disorder that does not respond to treatment.


name: Recurrent Polymorphic Post-Transplant Lymphoproliferative Disorder

description: The reemergence of polymorphic post-transplant lymphoproliferative disorder after a period of remission.


name: microphthalmia, Campbell's desert hamster

description: Microphthalmia that occurs in Campbell's desert hamster.


name: congenital hypotrichosis with juvenile macular dystrophy

description: A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.


name: Pathologic Stage IIIA Gastric Cancer AJCC v8

description: Stage IIIA includes: (T2, N3a, M0); (T3, N2, M0); (T4a, N1, M0); (T4a, N2, M0); (T4b, N0, M0). T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs.  N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Gastric Cancer by AJCC v8 Stage

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


name: Postneoadjuvant Therapy Stage III Gastric Cancer AJCC v8

description: Stage III includes: (T4a, N1, M0); (T3, N2, M0); (T2, N3, M0); (T4b, N0, M0); (T4b, N1, M0); (T4a, N2, M0); (T3, N3, M0); (T4b, N2, M0); (T4b, N3, M0); (T4a, N3, M0). T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage 0 Gastric Cancer AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria, high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage IVB Gastric Cancer AJCC v8

description: Stage IVB includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIIB Gastric Cancer AJCC v8

description: Stage IIIB includes: (T1, N3b, M0); (T2, N3b, M0); (T3, N3a, M0); (T4a, N3a, M0); (T4b, N1, M0); (T4b, N2, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIA Gastric Cancer AJCC v8

description: Stage IIA includes: (T1, N2, M0); (T2, N1, M0); (T3, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage III Gastric Cancer AJCC v8

description: Stage III includes: (T3, N1, N2, or N3, M0); (T4a, N1, N2, or N3, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIIC Gastric Cancer AJCC v8

description: Stage IIIC includes: (T3, N3b, M0); (T4a, N3b, M0); (T4b, N3a, M0); (T4b, N3b, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IV Gastric Cancer AJCC v8

description: Stage IV includes: Any T, Any N. M1: Distant metastasis. (AJCC 8th ed.)


name: Clinical Stage IIA Gastric Cancer AJCC v8

description: Stage IIA includes: (T1, N1, N2, or N3, M0); (T2, N1, N2, or N3, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage I Gastric Cancer AJCC v8

description: Stage I includes: (T1, N0, M0); (T2, N0, M0); (T1, N1, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage IVA Gastric Cancer AJCC v8

description: Stage IVA includes: (T4b, Any N, M0): T4b: Tumor invades adjacent structures/organs. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIB Gastric Cancer AJCC v8

description: Stage IIB includes: (T1, N3a, M0); (T2, N2, M0); (T3, N1, M0); (T4a, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage II Gastric Cancer AJCC v8

description: Stage II includes: (T3, N0, M0); (T2, N1, M0); (T1, N2, M0); (T4a, N0, M0); (T3, N1, M0); (T2, N2, M0); (T1, N3, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage II Gastric Cancer AJCC v8

description: Stage II includes: IIA: (T1, N2, M0); (T2, N1, M0); (T3, N0, M0); IIB: (T1, N3a, M0); (T2, N2, M0); (T3, N1, M0); (T4a, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Clinical Stage I Gastric Cancer AJCC v8

description: Stage I includes: (T1, N0, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Gastric Cancer by AJCC v8 Postneoadjuvant Therapy Stage

description: A term that refers to the postneoadjuvant therapy staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage IA Gastric Cancer AJCC v8

description: Stage IA includes: (T1, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage II Gastric Cancer AJCC v8

description: Stage II includes: IIA: (T1, N1, N2, or N3, M0); (T2, N1, N2, or N3, M0); IIB: (T3, N0, M0); (T4a, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage IIB Gastric Cancer AJCC v8

description: Stage IIB includes: (T3, N0, M0); (T4a, N0, M0). T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Clinical Stage IV Gastric Cancer AJCC v8

description: Stage IV includes: IVA: (T4b, Any N, M0); IVB: (Any T, Any N, M1). T4b: Tumor invades adjacent structures/organs. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


name: Gastric Cancer by AJCC v8 Pathologic Stage

description: A term that refers to the pathologic staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage I Gastric Cancer AJCC v8

description: Stage I includes: IA: (T1, N0, M0); IB: (T1, N1, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage III Gastric Cancer AJCC v8

description: Stage III includes: IIIA: (T2, N3a, M0); (T3, N2, M0); (T4a, N1, M0); (T4a, N2, M0); (T4b, N0, M0); IIIB: (T1, N3b, M0); (T2, N3b, M0); (T3, N3a, M0); (T4a, N3a, M0); (T4b, N1, M0); (T4b, N2, M0); IIIC: (T3, N3b, M0); (T4a, N3b, M0); (T4b, N3a, M0); (T4b, N3b, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor penetrates the subserosal connective tissue without invasion of the visceral peritoneum or adjacent structures. T4a: Tumor invades the serosa (visceral peritoneum). T4b: Tumor invades adjacent structures/organs. N0: No regional lymph node metastasis.  N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3a: Tumor with metastasis in seven to fifteen regional lymph nodes. N3b: Tumor with metastasis in sixteen or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IB Gastric Cancer AJCC v8

description: Stage IB includes: (T1, N1, M0); (T2, N0, M0). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Gastric Cancer by AJCC v8 Clinical Stage

description: A term that refers to the clinical staging of gastric cancer according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage 0 Gastric Cancer AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ: intraepithelial tumor without invasion of the lamina propria, high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Postneoadjuvant Therapy Stage IV Gastric Cancer AJCC v8

description: Stage IV includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 8th ed.)


name: Esophageal Atresia/Tracheoesophageal Fistula Type C

description: A type of esophageal atresia (EA) / tracheoesophageal fistula (TEF) in which the upper segment of the esophagus ends in a blind pouch and the lower segment is connected to the trachea via a TEF. This is the most common type of EA/TEF, which accounts for approximately 85 percent of cases.


name: Childhood Sclerosing Epithelioid Fibrosarcoma

description: A sclerosing epithelioid fibrosarcoma that occurs during childhood.


Sclerosing Epithelioid Fibrosarcoma

description: A well-circumscribed malignant fibroblastic neoplasm that usually arises from the soft tissue. It is characterized by the presence of nests of malignant epithelioid fibroblasts and sclerotic collagen stroma formation.


Tracheoarterial Fistula

description: An erosion through the tracheal wall into an artery.


Testicular Myeloid Sarcoma

description: A rare myeloid sarcoma that arises from the testis. At presentation the involvement is usually unilateral.


Phosphaturic mesenchymal tumor, benign

description: A phosphaturic mesenchymal tumor with benign histologic features.  It may recur locally but does not metastasize.  Complete excision is curative.


description: Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.


name: vertebral, cardiac, renal, and limb defects syndrome 3


name: congenital vertebral-cardiac-renal anomalies syndrome


name: vertebral, cardiac, renal, and limb defects syndrome 1


name: vertebral, cardiac, renal, and limb defects syndrome 2


age related macular degeneration 1

description: An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.


Jejunal Melanoma

description: A melanoma that arises from the jejunum.


Jejunal Carcinoma

description: A carcinoma that arises from the jejunum.


gravitaxis

description: The directed movement of a motile cell or organism in response to gravity.


negative gravitaxis

description: The directed movement of a motile cell or organism away from the source of gravity.


positive gravitaxis

description: The directed movement of a motile cell or organism towards the source of gravity.


furunculosis

description: A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida.


African histoplasmosis

description: An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii.


name: Histoplasma capsulatum infectious disease

description: An disease or disorder caused by infection with Histoplasma capsulatum.


histoplasmosis meningitis

description: An infectious meningitis caused by infection with Histoplasma capsulatum.


histoplasmosis retinitis

description: An retinitis caused by infection with Histoplasma capsulatum.


macular corneal dystrophy

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


gelatinous drop-like corneal dystrophy

description: Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.


Mounier-Kuhn syndrome

description: Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections.


genochondromatosis type 1

description: Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.


genochondromatosis type 2

description: Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.


Stage IV Adult Hodgkin Lymphoma

description: Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.


name: Esophageal squamous cell carcinoma recurrent

description: An esophageal squamous cell carcinoma which has reappeared after a period of remission or after presumed treatment.


benign neoplasm of lacrimal gland

description: A benign neoplasm that involves the lacrimal gland.


lacrimal gland neoplasm

description: A neoplasm (disease) that involves the lacrimal gland.


lacrimal gland cancer

description: A malignant neoplasm involving the lacrimal gland.


name: long chain fatty acids, defect in transport of


Stargardt disease 4

description: Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene.


Sporadic Cylindroma

description: A cylindroma occurring as a solitary sporadic lesion.


name: Closed fracture of mandible, multiple sites

description: A traumatic break in two or more places in the mandible that does not involve a break in the adjacent skin.


name: Descending Colon Neuroendocrine Tumor G1

description: A well differentiated, low grade neuroendocrine neoplasm that arises from the descending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


20q11.2 microdeletion syndrome

description: 20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.


name: Resectable Clear Cell Renal Cell Carcinoma

description: Clear cell renal cell carcinoma that is amenable to surgical resection.


Resectable Renal Cell Carcinoma

description: Renal cell carcinoma that is amenable to surgical resection.


urethral calculus

description: A concretion in the urethra.


DNA damage checkpoint signaling

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

description: A signal transduction process that contributes to a DNA damage checkpoint.


retinitis pigmentosa 42

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene.


TDP-43 proteinopathy

description: Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.


cervicofacial actinomycosis

description: A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses.


cleft palate, sheep

description: Cleft palate that occurs in sheep.


4p16.3 microduplication syndrome

description: 4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.


name: developmental and epileptic encephalopathy, 62


Intraocular Infection

description: Infection within the eye.


Fungal endophthalmitis

description: Inflammation of the lining of the ocular cavities, which results from a fungal infection.


parasitic endophthalmitis

description: Infection of the epicondyles by a parasite.


cytomegalovirus retinitis

description: Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness.


endophthalmitis

description: An infectious process affecting the internal structures of the eye.


response to L-glutamate

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 an L-glutamate stimulus.


cellular response to L-glutamate

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-glutamate(1-) stimulus.


autoimmune vasculitis

description: An autoimmune form of vasculitis.


rheumatoid vasculitis

description: Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex.


name: Benign Epithelial Melanoses of the Conjunctiva

description: A group of benign, non-neoplastic lesions in the conjunctiva characterized by increased production of melanin without proliferation of conjunctival melanocytes.


Recurrent Breast Acinic Cell Carcinoma

description: The reemergence of acinic cell breast carcinoma after a period of remission.


name: immunoskeletal dysplasia with neurodevelopmental abnormalities


cranial nodular fasciitis

description: A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.


Stage V Kidney Wilms Tumor

description: Wilms tumor that affects both kidneys at the same time. The tumor in each kidney is staged separately (National Wilms Tumor Study Group Staging System)


name: negative regulation of ribosomal protein gene transcription from RNA polymerase II promoter in response to nutrient levels

description: Any process that decreases the frequency, rate or extent of the synthesis of RNA from ribosomal protein genes by RNA polymerase II, originating at an RNA polymerase II promoter, as a result of a stimulus reflecting the presence, absence, or concentration of nutrients.


name: negative regulation of ribosomal protein gene transcription from RNA polymerase II promoter in response to stress

description: Any process that decreases the frequency, rate or extent of the synthesis of RNA from ribosomal protein genes by RNA polymerase II, originating at an RNA polymerase II promoter, as a result of a disturbance in organismal or cellular homeostasis.


name: carbon catabolite repression of transcription by galactose

description: A transcription regulation process in which the presence of galactose that leads to a decrease in the frequency, rate, or extent of transcription of specific genes involved in the metabolism of other carbon sources. Carbon catabolite repression is a mechanism of genetic regulation which the accumulation of catabolites of one substance in the cell represses the formation of enzymes that contribute to the catabolism of other substances.


name: nitrogen catabolite repression of transcription from RNA polymerase II promoter

description: A transcription regulation process in which the presence of one nitrogen source leads to a decrease in the frequency, rate, or extent of transcription, from an RNA polymerase II promoter, of specific genes involved in the metabolism of other nitrogen sources.


name: negative regulation of transcription from RNA polymerase II promoter by a nonfermentable carbon source

description: A transcription regulation process in which the presence of a nonfermentable carbon source leads to a decrease of the frequency, rate, or extent of transcription, from an RNA polymerase II promoter, of specific genes involved in the metabolism of other carbon sources.


name: carbon catabolite repression of transcription from RNA polymerase II promoter

description: A transcription regulation process in which the presence of one carbon source leads to a decrease in the frequency, rate, or extent of transcription, from an RNA polymerase II promoter, of specific genes involved in the metabolism of other carbon sources.


name: nitrogen catabolite repression of transcription

description: A transcription regulation process in which the presence of one nitrogen source leads to a decrease in the frequency, rate, or extent of transcription of specific genes involved in the metabolism of other nitrogen sources.


name: carbon catabolite repression of transcription from RNA polymerase II promoter by galactose

description: Any process involving galactose that stops, prevents or reduces the rate of transcription from an RNA polymerase II promoter.


name: carbon catabolite repression of transcription

description: A transcription regulation process in which the presence of one carbon source leads to a decrease in the frequency, rate, or extent of transcription of specific genes involved in the metabolism of other carbon sources. Carbon catabolite repression is a mechanism of genetic regulation which the accumulation of catabolites of one substance in the cell represses the formation of enzymes that contribute to the catabolism of other substances.


polycythemia, non-human animal

description: Polycythemia that occurs in non-human animals.


polycythemia, llama

description: Polycythemia that occurs in llama.


polycythemia, domestic cat

description: Polycythemia that occurs in domestic cat.


polycythemia, dog

description: Polycythemia that occurs in dog.


polycythemia, cattle

description: Polycythemia that occurs in cattle.


detection of salicylic acid stimulus

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


response to salicylic acid

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 salicylic acid stimulus.


name: cellular response to salicylic acid stimulus

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 salicylic acid stimulus.


name: thrombocytopenia 12 with or without myopathy


response to herbicide

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 herbicide stimulus. Herbicides are chemicals used to kill or control the growth of plants.


name: osmosensory signaling pathway via Sho1 osmosensor

description: The series of molecular signals generated in response to osmotic change, as mediated through a Sho1 osmosensor system.


osmosensory signaling pathway

description: The series of molecular signals initiated in response to osmotic change.


name: osmosensory signaling via phosphorelay pathway

description: The series of molecular signals generated in response to osmotic change, as mediated through a phosphorelay system. In S.cerevisiae, the osmosensor is the histidine kinase Sln1.


name: Adenocarcinoma in multiple adenomatous polyps

description: Adenocarcinomas developing in gastrointestinal tract adenomas in patients with multiple adenomatous polyps.


name: Adenocarcinoma in adenomatous polyposis coli

description: Adenocarcinomas developing in colorectal adenomas in patients with a history of adenomatous polyposis coli. The mean age of development of adenocarcinoma is about 40 years.


alcoholic psychosis

description: A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol.


childhood parosteal osteosarcoma

description: A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent.


peripheral osteosarcoma

description: A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.


high grade surface osteosarcoma

description: A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone.


Childhood Periosteal Osteosarcoma

description: A periosteal osteosarcoma occurring in childhood.


periosteal osteogenic sarcoma

description: An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma.


juxtacortical osteosarcoma

description: A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent.


name: ubiquitin-dependent glycoprotein ERAD pathway

description: An ERAD pathway whereby endoplasmic reticulum (ER)-resident glycoproteins are targeted for degradation. Includes differential processing of the glycoprotein sugar chains, retrotranslocation to the cytosol and degradation by the ubiquitin-proteasome pathway. A glycoprotein is a compound in which a carbohydrate component is covalently bound to a protein component.


name: Recurrent Childhood Gemistocytic Astrocytoma

description: The reemergence of gemistocytic astrocytoma in childhood after a period of remission.


Recurrent Astrocytic Tumor

description: The reemergence of an astrocytic tumor after a period of remission.


name: Recurrent Childhood Cerebellar Astrocytoma

description: Regrowth of benign and malignant childhood cerebellar astrocytomas that have previously been subjected to surgical resection and less frequently other forms of therapy such as radiation or chemotherapy.  Recurrence of benign tumors (e.g., (pilocytic astrocytoma) may respond to a second surgical procedure.


name: Recurrent Childhood Pleomorphic Xanthoastrocytoma

description: The reemergence of pleomorphic xanthoastrocytoma in childhood after a period of remission.


Recurrent MGMT-Methylated Glioblastoma

description: The reemergence of MGMT-methylated glioblastoma after a period of remission.


name: Recurrent Childhood Anaplastic Astrocytoma

description: The reemergence of anaplastic astrocytoma in childhood after a period of remission.


name: Recurrent Anaplastic Pleomorphic Xanthoastrocytoma

description: The reemergence of anaplastic pleomorphic xanthoastrocytoma after a period of remission.


name: Recurrent Childhood Visual Pathway Astrocytoma

description: The reemergence of visual pathway astrocytoma in childhood after a period of remission.


Recurrent Childhood Astrocytic Tumor

description: The reemergence of a childhood astrocytic tumor after a period of remission.


name: Recurrent Childhood Cerebral Astrocytoma

description: The reemergence of cerebral astrocytoma in childhood after a period of remission.


name: Recurrent Anaplastic Astrocytoma, IDH-Wildtype

description: The reemergence of anaplastic astrocytoma, IDH-wildtype after a period of remission.


Recurrent Childhood Diffuse Astrocytoma

description: The reemergence of diffuse astrocytoma in childhood after a period of remission.


Recurrent Gliosarcoma

description: The reemergence of gliosarcoma after a period of remission.


Recurrent Childhood Glioblastoma

description: The reemergence of glioblastoma in childhood after a period of remission.


Recurrent Glioblastoma, IDH-Wildtype

description: The reemergence of glioblastoma, IDH-wildtype after a period of remission.


Recurrent Giant Cell Glioblastoma

description: The reemergence of giant cell glioblastoma after a period of remission.


Recurrent Anaplastic Astrocytoma

description: The reemergence of anaplastic astrocytoma after a period of remission.


name: Recurrent Childhood Pilomyxoid Astrocytoma

description: The reemergence of pilomyxoid astrocytoma in childhood after a period of remission.


Recurrent Astrocytoma, IDH-Mutant

description: The reemergence of IDH-mutant astrocytoma after a period of remission.