Recurrent Childhood Gliosarcoma

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


name: Recurrent Childhood Giant Cell Glioblastoma

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

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


name: Recurrent Astrocytoma, IDH-Mutant, Grade 4

description: The reemergence of astrocytoma, IDH-mutant, Grade 4, after a period of remission.


Recurrent Diffuse Astrocytoma

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


name: Recurrent Childhood Subependymal Giant Cell Astrocytoma

description: The reemergence of subependymal giant cell astrocytoma in childhood after a period of remission.


name: Recurrent Childhood Pilocytic Astrocytoma

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


Recurrent Glioblastoma

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


name: Recurrent Childhood Optic Nerve Astrocytoma

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


Recurrent Small Cell Glioblastoma

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


Recurrent Supratentorial Glioblastoma

description: The reemergence of supratentorial glioblastoma after a period of remission.


name: Recurrent Childhood Fibrillary Astrocytoma

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


name: Recurrent Astrocytoma, IDH-Mutant, Grade 3

description: The reemergence of astrocytoma, IDH-mutant, grade 3 after a period of remission.


Recurrent Brain Glioblastoma

description: The reemergence of brain glioblastoma after a period of remission.


Recurrent Pilocytic Astrocytoma

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


Recurrent Low Grade Astrocytoma

description: The reemergence of a low grade astrocytoma after a period of remission.


name: Recurrent Childhood Brain Stem Astrocytoma

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


familial goiter, bongo

description: Familial goiter that occurs in bongo.


description: A reactive cutaneous proliferation of macrophages. It is characterized by the presence of giant cells with ground-glass cytoplasm. It presents with multiple cutaneous or mucosal papules or nodules.


hydrocephalus, llama

description: Hydrocephalus that occurs in llama.


hydrocephalus, non-human animal

description: Hydrocephalus that occurs in non-human animals.


hydrocephalus, horse

description: Hydrocephalus that occurs in horse.


hydrocephalus, dog

description: Hydrocephalus that occurs in dog.


hydrocephalus, cattle

description: Hydrocephalus that occurs in cattle.


hydrocephalus, pig

description: Hydrocephalus that occurs in pig.


hydrocephalus, sheep

description: Hydrocephalus that occurs in sheep.


hydrocephalus, puma

description: Hydrocephalus that occurs in puma.


hydrocephalus, tiger

description: Hydrocephalus that occurs in tiger.


hydrocephalus, golden hamster

description: Hydrocephalus that occurs in golden hamster.


hydrocephalus, domestic cat

description: Hydrocephalus that occurs in domestic cat.


hydrocephalus, yellow-crowned parrot

description: Hydrocephalus that occurs in yellow-crowned parrot.


hydrocephalus, rabbit

description: Hydrocephalus that occurs in rabbit.


name: Epididymal Melanotic Neuroectodermal Tumor

description: A rare neoplasm that arises from the epididymis and is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It usually occurs in infants and has a benign clinical course.


name: brachydactyly, coloboma, and anterior segment dysgenesis


name: developmental delay with variable neurologic and brain abnormalities


name: hypogonadism-mitral valve prolapse-intellectual disability syndrome

description: This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.


facial nerve neoplasm

description: A neoplasm involving a facial nerve.


facial neuralgia

description: Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions.


geniculate ganglionitis

description: Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.


geniculate herpes zoster

description: A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption.


name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

description: This syndrome is characterized by the association of Moebius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.


name: familial isolated deficiency of vitamin E

description: Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.


hypertriglyceridemia 1

description: A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration.


NIK deficiency

description: A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14).


Endemic Diseases

description: The constant presence of a disease or infectious agent within a given geographic area or population group; may also refer to the usual prevalence of a given disease within such area or group. (A dictionary of epidemiology, edited for the International Epidemiological Association by John M. Last, Oxford University Press 2001)


name: exocrine pancreatic insufficiency, domestic cat

description: Exocrine pancreatic insufficiency that occurs in domestic cat.


transient retinal arterial occlusion

description: A partial, temporary occlusion of the retinal artery.


arterial disorder

description: An impairment of the structure or function of the blood vessels which carry blood away from the heart.


Hepatic Arterial Occlusion

description: An occlusion of the hepatic artery.


Efferent Arteriolar Hyalinosis

description: The deposition of hyaline material in the wall of the efferent arterioles.


Vertebral Artery Dissection

description: A tear within the wall of a vertebral artery.


Dissection of renal artery

description: A tear within the wall of a renal artery.


Dissection, Thoracoabdominal Aorta

description: A tear within the wall of the thoracoabdominal aorta.


Dissection, Thoracic Aorta

description: A tear within the wall of the thoracic aorta.


Juvenile polyarteritis

description: Polyarteritis occurring in children or adolescents.


Systemic Arterial Hypertensive Disorder

description: Any condition resulting in systemically elevated blood pressure that is attributed to an arterial source.


Three Vessel Coronary Disease

description: There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in three coronary arteries (or greater than or equal to 50% stenosis in the left main coronary artery and greater than or equal to 50% stenosis in the right coronary artery). (ACC)


Dissection of iliac artery

description: A tear within the wall of an iliac artery.


generalized atherosclerosis

description: Atherosclerosis that is not localized.


arterial occlusion

description: Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart.


partial arterial retinal occlusion

description: A partial occlusion of the retinal artery.


Infectious Arteritis

description: A bacterial or viral infectious process affecting an artery.


polyarteritis nodosa

description: Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney.


Overlap Necrotizing Arteritis

description: A necrotizing arteritis that exhibits characteristic features of several distinct vascular disorders.


vasculitis due to ADA2 deficiency

description: Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.


Necrotizing Arteritis

description: An arteritis characterized by the presence of inflammation and necrosis in the arterial wall.


microscopic polyangiitis

description: Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.


Double coronary vessel disease

description: There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in two coronary arteries (or greater than or equal to 50% stenosis in the left main coronary artery). (ACC)


arteriolosclerosis

description: The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia.


Monckeberg arteriosclerosis

description: A type of arteriosclerosis in which calcification of the tunica media is the predominant feature.


One Vessel Coronary Disease

description: There was greater than or equal to 50% stenosis (reduction in cross-sectional area) in one coronary artery. (ACC)


cutaneous polyarteritis nodosa

description: Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.


Generalised arteriosclerosis

description: Arteriosclerosis that is not localized.


Significant Arterial Dissection

description: A dissection that impairs flow. This includes Type C (a persisting contrast medium extravasation) in the presence of ischemia, Type D (a spiral filling defect with delayed but complete distal flow), Type E (persistent filling defect with delayed antegrade flow) and Type F (filling defect with impaired flow and total occlusion).


Hyaline arteriolosclerosis

description: The deposition of hyaline material in the wall of the arterioles.


granulomatous angiitis

description: Inflammation of the arteries that is characterized by the presence of granulomas.


Femoropopliteal Occlusive Disease

description: An occlusive disease of the femoropopliteal vascular system.


endarteritis

description: Inflammation of the arterial intima.


middle ear cholesterol granuloma

description: As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response.


Bronchospasm, Exercise-Induced

description: Sudden contraction of the smooth muscles of the bronchial wall that occurs during or following exercise.


bronchial disorder

description: A disease involving the bronchus.


cellular response to ethanol

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

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


response to ethanol

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 ethanol stimulus.


name: Drug-induced cutaneous lupus erythematosus

description: A reaction to a drug characterized by skin findings common to lupus including photosensitivity and butterfly rash; typically it resolves after drug discontinuation.


lupus erythematosus tumidus

description: Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy.


Systemic lupus erythematosus rash

description: A rash associated with systemic lupus erythematosus.


subacute cutaneous lupus erythematosus

description: Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced.


name: cellular response to external biotic 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 an external biotic stimulus, an external stimulus caused by, or produced by living things.


clear cell sarcoma

description: A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.


name: Childhood Clear Cell Sarcoma of Soft Parts

description: A clear cell sarcoma of soft tissue occurring in children.


name: Metastatic Clear Cell Sarcoma of Soft Tissue

description: A clear cell sarcoma of soft tissue that has spread from the original site of growth to other anatomic sites.


name: Advanced Clear Cell Sarcoma of Soft Tissue

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


name: Recurrent Clear Cell Sarcoma of Soft Tissue

description: The reemergence of clear cell sarcoma of soft tissue after a period of remission.


name: Refractory Clear Cell Sarcoma of Soft Tissue

description: Clear cell sarcoma of soft tissue that is resistant to treatment.


name: COG4-congenital disorder of glycosylation

description: COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.


name: primary cutaneous gamma/delta-positive T-cell lymphoma

description: Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.


reactive gliosis

description: A neuroinflammatory response, occurring over several days, during which glial cells undergo nonspecific reactive changes in response to damage to the central nervous system (CNS); typically involves the proliferation or hypertrophy of different types of glial cells.


name: prolonged electroretinal response suppression 2


name: prolonged electroretinal response suppression 1


name: night blindness-skeletal anomalies-dysmorphism syndrome

description: This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).


pancreatic agenesis

description: Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.


pancreatic agenesis 2

description: Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.


pancreatic agenesis 1

description: Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.


name: Locally Advanced Unresectable Gastric Adenocarcinoma

description: A gastric adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Metastatic Unresectable Carcinoma

description: A carcinoma that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.


name: Metastatic Unresectable Basal Cell Carcinoma

description: A basal cell carcinoma that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.


name: Locally Advanced Unresectable Esophageal Adenocarcinoma

description: Esophageal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Digestive System Adenocarcinoma

description: Digestive system adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Gastroesophageal Junction Adenocarcinoma

description: Gastroesophageal junction adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Pancreatic Adenocarcinoma

description: A pancreatic adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Metastatic Unresectable Gastric Adenocarcinoma

description: A gastric adenocarcinoma that has spread from its original site of growth to another anatomic site and is not amenable to surgical resection.


name: Locally Advanced Unresectable Triple-Negative Breast Carcinoma

description: Triple-negative breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Colon Adenocarcinoma

description: A colon adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Basal Cell Carcinoma

description: A basal cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Unresectable Carcinoma

description: A carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Prostate Adenocarcinoma

description: A prostatic adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Breast Carcinoma

description: A breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Unresectable Castration-Resistant Prostate Carcinoma

description: Castration-resistant prostate carcinoma that is not amenable to surgical resection.


name: Locally Advanced Unresectable Renal Cell Carcinoma

description: A renal cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Colorectal Adenocarcinoma

description: A colorectal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Pancreatic Ductal Adenocarcinoma

description: A pancreatic ductal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable HER2-Negative Breast Carcinoma

description: A HER2-negative breast adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Cervical Adenocarcinoma

description: A cervical adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Lung Non-Small Cell Squamous Carcinoma

description: A non-small cell squamous carcinoma of the lung that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable HER2-Positive Breast Carcinoma

description: HER2-positive breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Fallopian Tube Carcinoma

description: Fallopian tube carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Hormone Receptor-Positive Breast Carcinoma

description: Hormone receptor-positive breast carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Prostate Carcinoma

description: A prostatic carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Unresectable Cervical Carcinoma

description: A cervical carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Stage IA Uterine Sarcoma AJCC v7

description: Stage IA includes: T1a, N0, M0.  T1a: For leiomyosarcoma and endometrial stromal sarcoma: tumor 5 cm or less in greatest dimension.  For adenosarcoma: tumor limited to endometrium/endocervix.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


name: nephrosis-deafness-urinary tract-digital malformations syndrome

description: Nephrosis-deafness-urinary tract-digital malformations syndrome is characterized by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.


tonsil neoplasm

description: A neoplasm (disease) that involves the tonsil.


benign neoplasm of tonsil

description: A benign neoplasm that involves the tonsil.


tonsillar lipoma

description: A benign adipose tissue neoplasm of the tonsils.


Volar Melanoma

description: A melanoma that arises from the palmar surface of hands and plantar surface of feet.


Eccrine angiomatous hamartoma

description: A rare, congenital skin lesion consisting of a proliferation of eccrine glands with a vascular stroma. It presents as a flesh-colored, hyperhidrotic, painful papule or plaque appearing at birth or during childhood.


Kahrizi syndrome

description: An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene.


name: regulation of transcription from RNA polymerase II promoter by glucose

description: Any process involving glucose that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter.


name: nitrogen catabolite regulation of transcription

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


name: nitrogen catabolite activation of transcription

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


name: positive regulation of autophagy in response to ER overload

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

description: The process in which the accumulation of misfolded proteins in the endoplasmic reticulum triggers a response that positively regulates autophagy.


name: positive regulation of transcription by glucose

description: Any process involving glucose that activates or increases the rate of transcription.


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

description: A transcription regulation process in which the presence of one carbon source leads to the modulation 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.


circadian regulation of gene expression

description: Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours.


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

description: A transcription regulation process in which the presence of one nitrogen source leads to the modulation of 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: positive regulation of transcription from RNA polymerase II promoter by galactose

description: Any process involving galactose that activates or increases the rate of transcription from an RNA polymerase II promoter.


name: suppression by virus of host cytokine production

description: Any viral process that results in the inhibition of host cell cytokine production.


name: positive 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 an increase 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 regulation of transcription

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


name: regulation of transcription from RNA polymerase II promoter by galactose

description: Any process involving galactose that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter.


photoinhibition

description: The mechanism by which high light intensity inhibits photosynthesis through inactivation of the D1 protein of photosystem II.


name: RNAi-mediated antiviral immunity against RNA virus

description: An RNAi-mediated post-transcriptional gene silencing pathway induced by RNA viruses leading to a sequence-specific degradation of target mRNAs or inhibition of translation. In plants, DCL4 is the primary Dicer to detect RNA viruses.


name: positive regulation of transcription from RNA polymerase II promoter by oleic acid

description: Any process involving oleic acid that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.


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

description: Any process involving carbon catabolites that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.


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

description: A transcription regulation process in which the presence of one nitrogen source leads to an increase 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: carbon catabolite activation of transcription

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


name: induction of phytoalexin biosynthetic process

description: The activation of the chemical reactions and pathways resulting in the formation of phytoalexins, low-molecular mass, lipophilic antimicrobial compounds that accumulate rapidly at sites of incompatible pathogen infection.


name: positive regulation of transcription from RNA polymerase II promoter by glucose

description: Any process involving glucose that activates or increases the rate of transcription from an RNA polymerase II promoter.


name: RNAi-mediated antiviral immunity against DNA virus

description: An RNAi-mediated post-transcriptional gene silencing pathway induced by DNA viruses leading to a sequence-specific degradation of target mRNAs or inhibition of translation. In plants, DCL3 is the primary Dicer to detect DNA viruses.


RNAi-mediated antiviral immune response

description: A post-transcriptional gene silencing pathway mediated by the action of regulatory RNAs that protects against foreign organism invasion by restricting viral replication and dissemination.


name: 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 the modulation 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: suppression by virus of host type I interferon production

description: Any viral process that results in the inhibition of host cell type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families.


name: positive regulation of transcription by galactose

description: Any process involving galactose that activates or increases the rate of transcription.


hereditary painful callosities

description: Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin.


name: X-linked sideroblastic anemia with ataxia

description: A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.


name: Undifferentiated Juvenile Idiopathic Arthritis

description: A category of juvenile idiopathic arthritis that does not fulfill any single category or has criteria for more than one category.


name: Stage IVB Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

description: Stage IVB includes: T0, N3, M0. T0: No evidence of primary tumor. N3: Metastasis in a cervical lymph node larger than 6 cm in greatest dimension and ENE(-); or metastases in a single ipsilateral cervical lymph node larger than 3 cm in greatest dimension and ENE(+); or metastases in multiple ipsilateral, contralateral, or bilateral cervical lymph nodes, any size and ENE(+) in any node. M0: No distant metastasis. (AJCC 8th Ed.)


name: Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy by AJCC v8 Stage

description: A term that refers to the staging of unknown primary tumor (except for EBV-related and HPV-related tumors) and metastatic cervical adenopathy according to the American Joint Committee on Cancer, 8th edition.


name: Stage IVA Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

description: Stage IVA includes: T0, N2, M0. T0: No evidence of primary tumor. N2: Metastasis in a single ipsilateral or contralateral cervical lymph node 3 cm or smaller in greatest dimension and ENE(+); or metastasis in a single ipsilateral cervical lymph node larger than 3 cm but not larger than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-); or metastases in bilateral or contralateral cervical lymph nodes, none larger than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th Ed.)


name: Stage IVC Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

description: Stage IVC includes: T0, Any N, M1. T0: No evidence of primary tumor. M1: Distant metastasis. (AJCC 8th Ed.)


name: Stage III Unknown Primary Tumor (Except for EBV-Related and HPV-Related Tumors) and Metastatic Cervical Adenopathy AJCC v8

description: Stage III includes: T0, N1, M0. T0: No evidence of primary tumor. N1: Metastasis in a single ipsilateral lymph node, 3 cm or smaller in greatest dimension and ENE (extranodal extension)(-). M0: No distant metastasis. (AJCC 8th Ed.)


name: Recurrent Metastatic Merkel Cell Carcinoma

description: The reemergence of a metastatic Merkel cell carcinoma after a period of remission.


Recurrent Metastatic Malignant Neoplasm

description: The reemergence of a metastatic malignant neoplasm after a period of remission.


Recurrent Metastatic Melanoma

description: The reemergence of metastatic melanoma after a period of remission.


Recurrent Carcinoma of Unknown Primary

description: The reemergence of carcinoma from an unknown primary after a period of remission.


name: Recurrent Metastatic Digestive System Carcinoma

description: The reemergence of a metastatic digestive system carcinoma after a period of remission.


Recurrent Pseudomyxoma Peritonei

description: The reemergence of pseudomyxoma peritonei after a period of remission.


name: Recurrent Metastatic Malignant Neoplasm in the Leptomeninges

description: The reemergence of a metastatic malignant neoplasm in the leptomeninges after a period of remission.


Recurrent Metastatic Gastric Carcinoma

description: The reemergence of metastatic gastric carcinoma after a period of remission.


name: Recurrent Metastatic Skin Squamous Cell Carcinoma

description: The reemergence of a metastatic skin squamous cell carcinoma after a period of remission.


name: symbiont-mediated perturbation of host B-cell mediated immune response

description: A process in which a symbiont alters or subverts the B-cell mediated immune response of the host organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.


name: Deafness due to Connexin 26 Gene Anomaly

description: Congenital deafness caused by mutations in the gene GJB2 (deafness gene).


Complete neonatal hearing loss

description: Complete loss of the ability to detect or understand sounds present in an infant within its first month after birth.


Neonatal hearing loss

description: Partial or complete loss of the ability to detect or understand sounds present in an infant within its first month after birth.


name: autosomal recessive nonsyndromic hearing loss 1A

description: An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.


central hearing loss

description: Hearing loss resulting from disorders of the central nervous system auditory pathways.


name: autosomal recessive nonsyndromic hearing loss 49

description: An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.


name: autosomal dominant nonsyndromic hearing loss 36

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.


Hearing Loss, Functional

description: Hearing loss in the absence of auditory system pathology.


name: Mitochondrially Inherited Nonsyndromic Sensorineural Deafness

description: A maternally inherited form of nonsyndromic sensorineural deafness that is caused by a mutation in any of several mitochondrial genes.


Deafness, Autosomal Recessive 12

description: A genetic condition inherited in an autosomal recessive caused by mutation(s) in the CDH23 gene, encoding cadherin-23, characterized by progressive sensorineural hearing loss. Mutation(s) in the CDH23 gene may also cause Usher syndrome 1D.


name: autosomal recessive nonsyndromic hearing loss 36

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


name: autosomal recessive nonsyndromic hearing loss 28

description: An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.


Partial neonatal hearing loss

description: Partial loss of the ability to detect or understand sounds present in an infant within its first month after birth.


name: autosomal recessive nonsyndromic hearing loss 39

description: An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.


name: autosomal dominant nonsyndromic hearing loss 41

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.


hearing loss, X-linked 4

description: Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.


Bilateral Deafness

description: Partial or total inability to hear sounds in both ears.


Deafness, Autosomal Dominant 58

description: A genetic condition inherited in an autosomal dominant fashion linked to chromosome 2p21-p12, characterized by bilateral hearing loss.


name: X-linked hereditary sensory and autonomic neuropathy with hearing loss

description: This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.


Sensory hearing loss

description: Hearing loss caused by damage to the cochlea in the inner ear.


name: severe intellectual disability-progressive spastic diplegia syndrome

description: Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.


hand dermatosis

description: Skin conditions characterized by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual.


arthus reaction

description: A localized vasculitis resulting from deposition of antibody-antigen complexes.


name: Testicular Mixed Choriocarcinoma and Teratoma

description: A malignant mixed germ cell tumor arising from the testis.  It is characterized by the presence of a teratomatous component and malignant syncytiotrophoblastic cells.


eyelid degenerative disorder

description: A neurodegenerative disease that involves the eyelid.


name: hyperphosphatasia with intellectual disability syndrome 2

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.


benign neoplasm of endometrium

description: A benign neoplasm that involves the endometrium.


severe pre-eclampsia

description: Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances.


name: Malignant nasopharyngeal neoplasm recurrent

description: The reemergence of a nasopharyngeal malignant neoplasm after a period of remission.


Lymphoma of kidney

description: A lymphoma that arises from the kidney. There is no evidence of a systemic lymphoproliferative disorder.


detection of jasmonic acid stimulus

description: The series of events in which a jasmonic acid stimulus is received by a cell and converted into a molecular signal. Series of events required for a jasmonic acid stimulus to be detected and converted to a signal molecule.


name: follicular dendritic cell sarcoma of mediastinum

description: A rare follicular dendritic cell sarcoma that affects the structures of the mediastinum.


name: Acute Myeloid Leukemia with SF3B1 Mutation

description: An acute myeloid leukemia associated with SF3B1 gene mutation.


streptococcus pneumoniae discitis

description: Discitis caused by infection with Streptococcus pneumoniae.


atrial septal defect 9

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.


Ewing sarcoma of bone

description: A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor.


acute hypotension

description: Acute form of hypotension (disease).


name: Pancreatic Mucinous-Cystic Neoplasm, High Grade

description: A non-invasive mucinous cystic neoplasm that arises from the pancreas and is characterized by the presence of severe dysplasia.  The neoplastic columnar mucin-producing epithelial cells form papillae with irregular branching and budding.  There is nuclear stratification, prominent nucleoli, and cellular pleomorphism.  Mitotic activity is present and the mitoses may be atypical.


Genital rhabdomyoma

description: A rare benign skeletal muscle neoplasm arising from the female genital tract. It is characterized by the presence of small nucleated rhabdomyoblasts within a fibrous and myxoid stroma.


Benign Skeletal Muscle Neoplasm

description: A benign mesenchymal neoplasm arising from skeletal muscle tissue.


Extracardiac Rhabdomyoma

description: A benign mesenchymal neoplasm that shows mature skeletal muscle differentiation.


Central Nervous System Rhabdomyoma

description: A benign mesenchymal neoplasm arising from the central nervous system.  It consists of mature skeletal muscle tissue.


Vulvar Rhabdomyoma

description: A rare benign polypoid skeletal muscle neoplasm arising from the vulva. It is characterized by the presence of round striated muscle cells and strap-like skeletal muscle cells, and vascular space formations within a fibrous and myxoid stroma.


Fetal rhabdomyoma

description: A rare benign mesenchymal neoplasm arising from skeletal muscle. It is characterized by the presence of immature spindle and polygonal cells within a scant myxoid stroma. It usually develops in the head and neck region of young children.


Paratesticular Rhabdomyoma

description: A rhabdomyoma that arises from the paratesticular region.


Vaginal Rhabdomyoma

description: A rare benign polypoid skeletal muscle neoplasm arising from the vagina.  It is characterized by the presence of round striated muscle cells and strap-like skeletal muscle cells, and vascular space formations within a fibrous and myxoid stroma.


Head and Neck Rhabdomyoma

description: A benign neoplasm with skeletal muscle differentiation that arises from the head and neck. It usually affects the mouth, parapharyngeal space, larynx, salivary glands, and soft tissue of the neck.


Intermediate Rhabdomyoma

description: A morphologic variant of fetal rhabdomyoma characterized by the presence of spindle cell myoblasts and strap-like skeletal muscle cells.


Adult Extracardiac Rhabdomyoma

description: A benign mesenchymal neoplasm arising from skeletal muscle and occurring in adults.


Classic Rhabdomyoma

description: A morphologic variant of fetal rhabdomyoma characterized by the presence of a prominent myxoid stroma and primitive skeletal spindle cells.


Mediastinal Rhabdomyoma

description: A rare benign skeletal muscle neoplasm arising from the mediastinum.


atrial septal defect 7

description: Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.


mesenteric lymphadenitis

description: Inflammation of the mesenteric lymph nodes.


name: amyloidosis, primary localized cutaneous, 1

description: Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.


name: familial primary localized cutaneous amyloidosis


name: amyloidosis, primary localized cutaneous, 3


name: amyloidosis, primary localized cutaneous, 2


name: Stage IB Fallopian Tube Cancer AJCC v6 and v7

description: Stage IB includes: T1b, N0, M0.  T1b: Tumor limited to both tubes, without penetrating the serosal surface; no ascites.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


name: follicular atrophoderma-basal cell carcinoma


Metastatic Malignant Abdominal Neoplasm

description: A malignant neoplasm that arises from the abdomen and has spread from its original site of growth to another anatomic site.


Advanced Malignant Abdominal Neoplasm

description: A malignant neoplasm that arises from the abdomen and has spread extensively to other anatomic sites or is no longer responding to treatment.


Refractory Pleomorphic Liposarcoma

description: Pleomorphic liposarcoma that is resistant to treatment.


name: sick sinus syndrome 2, autosomal dominant

description: Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.


20q11.2 microduplication syndrome

description: 20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.


brachydactyly type E2

description: Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.


immunodeficiency 32B

description: A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.


hydranencephaly, dog

description: Hydranencephaly that occurs in dog.


name: congenital narrowing of cervical spinal canal

description: Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (sagittal diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.


Retinoblastoma, diffuse

description: A retinoblastoma characterized by the absence of a distinct retinal mass and the presence of malignant cells diffusely infiltrating the retina. It is often confused with uveitis and endophthalmitis, resulting in delayed diagnosis of the malignancy.


name: adaptive immune memory response involving T cells and B cells

description: An immune response mediated by reactivated memory T cells and B cells and directed against a previously encountered antigen, being quicker and quantitatively better compared with the primary response.


adaptive immune memory response

description: An immune response directed against a previously encountered antigen, being quicker and quantitatively better compared with the primary response.


name: mesoaxial hexadactyly and cardiac malformation


name: developmental delay with or without intellectual impairment or behavioral abnormalities


mesocestoidiasis

description: An disease or disorder caused by infection with Mesocestoides.


name: Refractory Vaginal Squamous Cell Carcinoma

description: Vaginal squamous cell carcinoma that is resistant to treatment.


fibrous meningioma

description: A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.


Larsen-like syndrome, B3GAT3 type

description: Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.


primary ciliary dyskinesia 13

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.


Factor V Inactivation

description: Presence of inactivating antibodies to factor V in the blood.


acquired factor V deficiency

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


Gallbladder Adenoma, Intestinal-Type

description: An adenoma that arises from the gallbladder and is associated with intestinal-type differentiation.


neoplastic polyp

description: A term that includes all polypoid growth from the inner lining of the mucous membrane.


Cervical Microglandular Polyp

description: A benign endocervical polypoid epithelial hyperplasia characterized by the presence of tightly packed glandular structures. It is usually seen in women on oral contraceptive therapy and during pregnancy.


tubular adenoma of stomach

description: An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a tubular architectural pattern.


Precancerous Polyp

description: A polyp with severe dysplastic features.


polyposis

description: A condition characterized by the presence of numerous polyps.


villous adenoma of stomach

description: An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a villous architectural pattern.


adenomatous polyp of stomach

description: A neoplastic polyp that arises from the stomach. It is associated with intestinal-type differentiation. The presence of high grade dysplasia and a size of more than 2 cm are factors that increase the risk of malignant transformation.


Ampulla of Vater Tubular Adenoma

description: An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of tubular epithelial structures and it is associated with dysplasia.


Eosinophilic granulomatous polyp

description: A benign, often polypoid, hypocellular fibroblastic neoplasm with a predilection for the stomach and ileum, containing a prominent inflammatory infiltrate, especially eosinophils. (WHO 2019)


Ampulla of Vater Villous Adenoma

description: An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.


Adenomatous Polyps

description: A polypoid neoplasm arising from the glandular epithelium of the gastrointestinal tract. There is proliferation of glandular cells which may display dysplastic cytologic features. Representative examples include the adenomatous polyps of the colon and rectum..


Endocervical polyp

description: A polyp that arises from the endocervix. It is characterized by the presence of endocervical glands and a fibrovascular stroma.


Fallopian Tube Endometrioid Polyp

description: An adenomatous polyp that arises from the interstitial portion of the fallopian tube and is characterized by the presence of endometrial epithelium.  It may obstruct the lumen of the fallopian tube and result in infertility or tubal pregnancy.


Colorectal Adenomatous Polyp

description: A polypoid adenoma that arises from and protrudes into the lumen of the colon or rectum.  Epithelial dysplasia is always present.  According to the architectural pattern it is classified as tubular, tubulovillous, or villous.


Adenoma of ampulla of Vater

description: An adenoma that arises from the ampulla of Vater and resembles the adenomas of the small and large intestines.  Morphologically, according to the growth pattern, it may be classified as tubular, tubulovillous, or villous.  Dysplasia is always present.  Jaundice may be an early symptom.


Adenomatous polyp of rectum

description: A polypoid adenoma that arises from and protrudes into the lumen of the rectum.  Epithelial dysplasia is always present.  According to the architectural pattern it is classified as tubular, tubulovillous, or villous.


Intestinal-type adenoma

description: An adenoma that arises from the glandular epithelium of the gastrointestinal tract and is associated with intestinal-type differentiation.


tubulovillous adenoma of stomach

description: An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a tubulovillous architectural pattern.


tubulopapillary adenoma of gallbladder

description: A grossly visible non-invasive neoplasm of the gallbladder composed of uniform back-to-back mucinous glands arranged in a tubular configuration. (WHO 2019)


myxoid/round cell liposarcoma

description: Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.


ovarian myxoid liposarcoma

description: A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.


round cell liposarcoma

description: A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.


Vaginal Cancer by AJCC v8 Stage

description: A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas of the vagina. There is no AJCC staging system for mucosal melanoma of the vagina. (from AJCC 8th Ed.)


Stage III Vaginal Cancer AJCC v8

description: Stage III includes: (T1-T3, N1, M0); (T3, N0, M0). T1: Tumor confined to the vagina. T2: Tumor invading paravaginal tissues but not to pelvic sidewall. T3: Tumor extending to the pelvic sidewall and/or involving the lower third of the vagina and/or causing hydronephrosis or nonfunctioning kidney. N0: No regional lymph node metastasis. N1: Pelvic or inguinal lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IV Vaginal Cancer AJCC v8

description: Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Tumor invading the mucosa of the bladder or rectum and/or extending beyond the true pelvis (bullous edema is not sufficient evidence to classify a tumor as T4). M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)


Stage II Vaginal Cancer AJCC v8

description: Stage II includes: IIA: T2a, N0, M0; IIB: T2b, N0, M0. T2a: Tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. T2b: Tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIA Vaginal Cancer AJCC v8

description: Stage IIA includes: T2a, N0, M0. T2a: Tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIB Vaginal Cancer AJCC v8

description: Stage IIB includes: T2b, N0, M0. T2b: Tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IVB Vaginal Cancer AJCC v8

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


name: Unresectable Papillary Renal Cell Carcinoma

description: A papillary renal cell carcinoma that is not amenable to surgical resection.


Refractory Fibrolamellar Carcinoma

description: Fibrolamellar carcinoma that is resistant to treatment.


name: Prostate Stromal Proliferation of Uncertain Malignant Potential

description: A neoplastic lesion that arises from the prostate gland stroma.  Morphologic characteristics include hypercellular stroma with scattered atypical cells, prominent overgrowth of the prostatic stroma, or changes resembling benign phyllodes tumor.  The majority of cases do not have an aggressive clinical course.  A minority of cases however, may progress to stromal sarcoma.


tibial muscular dystrophy

description: A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.


Meyerson nevus

description: A benign melanocytic nevus surrounded by eczematous changes.


frontonasal dysplasia, cattle

description: Frontonasal dysplasia that occurs in cattle.


cellular response to mycotoxin

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 mycotoxin stimulus. A mycotoxin is a toxic chemical substance produced by fungi.


response to mycotoxin

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 mycotoxin stimulus. A mycotoxin is a toxic chemical substance produced by fungi.


name: Metastatic malignant neoplasm to supraclavicular lymph nodes

description: The spread of a malignant neoplasm from its original site of growth to supraclavicular lymph nodes.


name: metastatic malignant neoplasm in the lymph nodes

description: The spread of a malignant neoplasm to the lymph nodes.


name: Metastatic Malignant Neoplasm in the Regional Lymph Nodes

description: The spread of a malignant neoplasm from its original site of growth to nearby lymph nodes.


name: Breast Carcinoma Metastatic in the Lymph Nodes

description: A carcinoma that arises from the breast and has spread to the lymph nodes.


Metastatic Melanoma in the Lymph Nodes

description: A melanoma that has spread to the lymph nodes from a cutaneous or extracutaneous primary site.


name: Metastatic malignant neoplasm to mediastinal lymph nodes

description: The spread of a malignant neoplasm to the mediastinal lymph nodes from an adjacent or distant anatomic site.


name: Prostate Carcinoma Metastatic in the Lymph Nodes

description: A carcinoma that arises from the prostate gland and has spread to the lymph nodes.


name: Metastatic Squamous Cell Carcinoma in the Cervical Lymph Nodes

description: A squamous cell carcinoma that has spread from its original site of growth to the cervical lymph nodes.


name: Dextro-Transposition of the Great Vessels with Intact Ventricular Septum

description: A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with the notable absence of any pathologic opening between the cardiac ventricles.


name: microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects


name: Central Nervous System Teratoma with Malignant Transformation

description: A central nervous system teratoma characterized by the presence of a malignant component. The malignant component most often is sarcomatous (rhabdomyosarcoma or undifferentiated sarcoma) or carcinomatous (squamous cell carcinoma or adenocarcinoma).


name: Sellar Teratoma with Malignant Transformation

description: A teratoma with malignant transformation that arises from or adjacent to the sellar region.


HIV wasting syndrome

description: Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).


Stage IA1 Cervical Cancer

description: Stage IA1 includes: T1a1, N0, M0.  T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 mm or less in horizontal spread.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IA Cervical Cancer AJCC v6 and v7

description: Stage IA includes: IA (T1a, N0, M0); IA1 (T1a1, N0, M0); IA2 (T1a2, N0, M0).  T1a: Invasive carcinoma diagnosed only by microscopy. Stromal invasion with a maximum depth of 5.0 mm measured from the base of the epithelium and a horizontal spread of 7.0 mm or less. Vascular space involvement, venous or lymphatic, does not affect classification. T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 or less horizontal spread.  T1a2: Measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IA2 Cervical Cancer

description: Stage IA2 includes: T1a2, N0, M0.  T1a2: Measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


name: intellectual developmental disorder, autosomal recessive 82


Machado-Joseph disease type 2

description: Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.


Machado-Joseph disease type 4

description: A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.


Machado-Joseph disease type 3

description: Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.


Machado-Joseph disease type 5

description: A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia.


Machado-Joseph disease type 1

description: Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.


name: metaphyseal modeling abnormality, skin lesions, and spastic paraplegia


name: Steroid Resistant Gastrointestinal Tract Acute Graft Versus Host Disease

description: Acute graft versus host disease occurring in the gastrointestinal tract that is resistant to treatment with steroids.


parotid disorder

description: A disease involving the parotid gland.


parotid gland neoplasm

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


benign neoplasm of parotid gland

description: A benign neoplasm that involves the parotid gland.


ectopic Cushing syndrome

description: Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.


name: ACTH-independent adrenal Cushing syndrome, somatic


name: ACTH-independent macronodular adrenal hyperplasia 1


name: Cushing syndrome due to macronodular adrenal hyperplasia

description: A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.


name: ACTH-independent macronodular adrenal hyperplasia 2

description: Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.


name: Cushing syndrome due to cortisol-producing adrenocortical adenoma


ACTH-dependent Cushing syndrome

description: Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).


ACTH-independent Cushing syndrome

description: Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).


name: microphthalmia, isolated, with coloboma 4


Hemoglobin SE disease

description: A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin E mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease.


name: Stage IV Colorectal Neuroendocrine Tumor AJCC v8

description: Stage IV includes: (T1, Any N, M1); (T2, Any N, M1); (T3, Any N, M1); (T4, Any N, M1). T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. M1: Distant metastasis. (AJCC 8th ed.)


name: Stage IV Colon Neuroendocrine Tumor AJCC v8


name: Stage IV Rectal Neuroendocrine Tumor AJCC v8


detection of endogenous biotic stimulus

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


Pyogenic granuloma of oral mucosa

description: A lobular hemangioma arising from the oral mucosa.


Airway Infantile Hemangioma

description: A rare infantile hemangioma in the airway, usually in the subglottic area or trachea. It may or may not be associated with cutaneous lesions. It is a potentially life-threatening condition and the infant should be closely monitored for signs of airway disease.


Senile hemangioma of lip

description: A capillary hemangioma arising from the lip and presenting as a papular lesion.


name: Pyogenic granuloma of skin and subcutaneous tissue

description: A lobular hemangioma arising from the skin and attached subcutaneous tissues.


Anastomosing hemangioma

description: An unusual variant of capillary hemangioma. It is characterized by a unique anastomosing sinusoidal-like architecture which may mimic angiosarcoma. It was originally described in the kidney but rare cases have been reported in other sites.


Infantile hemangioma of liver

description: A capillary hemangioma that arises from the liver. It occurs in infants and children.


Infantile hemangioma

description: A capillary hemangioma that may regress spontaneously.  It occurs in infants and children.


Multiple Lobular Capillary Hemangiomas

description: A lobular hemangioma present in multiple anatomic sites.


Capillary hemangioma of orbit

description: A capillary hemangioma arising from the orbit.


Cardiac Capillary Hemangioma

description: A capillary hemangioma arising from the heart.


metastatic neoplasm

description: A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology.


secondary neoplasm

description: A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.


name: metastatic malignant neoplasm in the colon

description: The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site.


neoplastic meningitis

description: Metastatic neoplasm in which the tumor cells spread to leptomeninges (pia and arachnoid) and subarachnoid space. The most common primary tumors metastasizing to the leptomeninges are breast and lung carcinomas, melanoma, aggressive non-Hodgkin lymphoma, and acute lymphocytic leukemia.


name: metastatic malignant neoplasm in the eye

description: A malignant neoplasm that has spread to the eye from another anatomic site.


metastatic malignant neoplasm

description: A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site.


secondary malignant neoplasm

description: A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.


name: Stage II Appendix Neuroendocrine Tumor AJCC v7

description: Stage II includes: T2, T3, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm or with extension to the cecum. T3: Tumor more than 4 cm or with extension to the ileum.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Adult Ependymoma

description: An ependymoma occurring in adults.


name: Adult Supratentorial Ependymoma ZFTA Fusion-Positive

description: A supratentorial ependymoma ZFTA fusion-positive that occurs in adults.


Adult Posterior Fossa Ependymoma

description: A posterior fossa ependymoma that occurs in adults.


name: hereditary continuous muscle fiber activity

description: Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.


Advanced Genitourinary System Carcinoma

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


Advanced Bladder Urothelial Carcinoma

description: Bladder urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Urethral Urothelial Carcinoma

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


name: Advanced Vaginal Adenosquamous Carcinoma

description: Vaginal adenosquamous carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Endometrial Carcinoma

description: An endometrial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Fallopian Tube Carcinoma

description: Fallopian tube carcinoma that has spread extensively from its original site of growth to other anatomic sites or is no longer responding to treatment.


Advanced Ureter Urothelial Carcinoma

description: Ureter urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Advanced Cervical Squamous Cell Carcinoma

description: Cervical squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Penile Carcinoma

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


name: Advanced Vaginal Squamous Cell Carcinoma

description: Vaginal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Cervical Carcinoma

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


name: Advanced Platinum-Refractory Ovarian Carcinoma

description: Platinum-refractory ovarian carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Bladder Carcinoma

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


name: Advanced Platinum-Resistant Ovarian Carcinoma

description: Platinum-resistant ovarian carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Ovarian Carcinoma

description: An ovarian carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Urothelial Carcinoma

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


name: Advanced Renal Pelvis and Ureter Urothelial Carcinoma

description: Renal pelvis and ureter urothelial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Advanced Microsatellite Stable Ovarian Carcinoma

description: Microsatellite stable ovarian carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Advanced Microsatellite Stable Endometrial Carcinoma

description: Microsatellite stable endometrial carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Vaginal Carcinoma

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


name: Advanced Endometrial Undifferentiated Carcinoma

description: Endometrial undifferentiated carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Vulvar Carcinoma

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


Advanced Prostate Carcinoma

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


name: Advanced Vaginal Squamous Cell Carcinoma, Not Otherwise Specified

description: Vaginal squamous cell carcinoma, not otherwise specified that that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Advanced Cervical Adenosquamous Carcinoma

description: Cervical adenosquamous carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: basal ganglia calcification, idiopathic, 1

description: An autosomal dominant condition caused by mutation(s) in the SLC20A2 gene, encoding sodium-dependent phosphate transporter 2. It is characterized by calcification of the basal ganglia.


Recurrent Lymphomatoid Granulomatosis

description: The reemergence of lymphomatoid granulomatosis after a period of remission.


name: Recurrent Grade II Lymphomatoid Granulomatosis

description: The reemergence of grade II lymphomatoid granulomatosis after a period of remission.


name: Recurrent Grade I Lymphomatoid Granulomatosis

description: The reemergence of grade I lymphomatoid granulomatosis after a period of remission.


name: Recurrent Childhood Lymphomatoid Granulomatosis

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


retinitis pigmentosa 2

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.


RP2-related retinopathy

description: A retinopathy caused by variants in the X-linked gene, RP2.


name: Extraocular Cutaneous Sebaceous Carcinoma

description: A rare variant of sebaceous carcinoma that does not affect the ocular region.


Conjunctival Sebaceous Carcinoma

description: A rare sebaceous carcinoma that arises from the conjunctiva.


Metastatic Sebaceous Carcinoma

description: Sebaceous carcinoma that has spread from the original site of growth to other anatomic sites.


Recurrent Sebaceous Carcinoma

description: The reemergence of sebaceous carcinoma after a period of remission.


sebaceous carcinoma of salivary gland

description: A rare sebaceous carcinoma that arises from the salivary glands.


Refractory Sebaceous Carcinoma

description: Sebaceous carcinoma that is resistant to treatment.


Head and Neck Sebaceous Carcinoma

description: A sebaceous carcinoma that arises from the head and neck region.


Tropical Disease

description: Infectious and parasitic diseases endemic in tropical and subtropical zones, including Chagas' disease, leishmaniasis, leprosy, malaria, onchocerciasis, schistosomiasis, sleeping sickness, yellow fever, and others; often water- or insect-borne.


infection by Trypanosoma gambiense

description: Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.


early yaws

description: Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly.


infection by Trypanosoma rhodesiense

description: An infection with Trypanosoma brucei rhodesiense.


late yaws

description: Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints.


yaws

description: An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease.


name: chronic lymphoproliferative disorder of NK-cells

description: An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged.


name: autosomal recessive early-onset Parkinson disease 23

description: Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.


Parkinson disease 17

description: Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene.


juvenile onset Parkinson disease 19A

description: Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.


Parkinson disease 21

description: Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene.


Kufor-Rakeb syndrome

description: Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.


name: autosomal recessive juvenile Parkinson disease 2

description: A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia.


early-onset Parkinson disease 20

description: Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.


name: parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development


parkinsonian-pyramidal syndrome

description: A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.


late-onset Parkinson disease

description: A Parkinson disease that begins after around the age of 50.


autosomal dominant Parkinson disease 8

description: Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.


name: autosomal recessive early-onset Parkinson disease 7

description: Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.


young-onset Parkinson disease

description: A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.


autosomal dominant Parkinson disease 4

description: A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.


autosomal dominant Parkinson disease 1

description: An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the SNCA gene, encoding alpha-synuclein. Mutation(s) in the SNCA gene are responsible for PARK4 and Lewy body dementia, and have overlapping phenotypes.


name: Parkinson disease 22, autosomal dominant

description: Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.


name: autosomal recessive early-onset Parkinson disease 6

description: Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene.


name: autosomal recessive Parkinson disease 14

description: A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.


hymenolepiasis

description: A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability.


oral candidiasis

description: Infection of the mucosal lining of the mouth with the fungus Candida albicans.


congenital aortic valve insufficiency

description: Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.


Heart valve regurgitation

description: Dysfunction of one of the cardiac valves characterized by incomplete valve closure.


mitral valve disorder

description: A disease involving the mitral valve.


Rheumatic tricuspid valve regurgitation

description: Tricuspid valve insufficiency secondary to rheumatic fever.


name: Congenital insufficiency of pulmonary valve

description: Dysfunction of the pulmonary valve characterized by incomplete valve closure that is present at birth.


lateral sinus thrombosis

description: Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure.


intracranial sinus thrombosis

description: Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects.


sagittal sinus thrombosis

description: Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma.


cavernous sinus thrombosis

description: Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)


Arteriovenous fistula stenosis

description: Narrowing of the lumen of an arteriovenous fistula.


name: Triple-Class Refractory Multiple Myeloma

description: Multiple myeloma that is resistant to three classes of therapeutic agents, including proteasome inhibitors, immunomodulatory agents, and monoclonal antibodies.


name: frontonasal dysplasia phocomelic upper limbs


apocrine sweat gland disorder

description: A disease that involves the apocrine sweat gland.


hidradenitis

description: An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland.


familial acne inversa

description: An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome.


acne inversa, familial, 3

description: Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.


acne inversa, familial, 2

description: Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.


apocrine adenoma

description: A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma.


apocrine sweat gland cancer

description: A malignant neoplasm involving the apocrine sweat gland.


acne inversa, familial, 1

description: Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.


apocrine sweat gland neoplasm

description: A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma.


Dextrocardia Situs Solitus

description: A congenital heart defect in which the heart is located in the right side and the other organs are in their normal position.


Recurrent Childhood Pineoblastoma

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


Trichomonas prostatitis

description: Infection of the prostate gland caused by Trichomonas vaginalis.


alpha-mannosidosis, goat

description: Alpha-mannosidosis that occurs in goat.


name: detection of light stimulus involved in magnetoreception

description: The series of events involved in magnetoception in which a light stimulus is received and converted into a molecular signal. Downstream processing of the light information in addition to other sensory data allows organisms to perceive the orientation of a magnetic field.


name: detection of light stimulus involved in sensory perception

description: The series of events in which a light stimulus is received by a cell and converted into a molecular signal as part of the sensory perception of light.


name: detection of light stimulus involved in visual perception

description: The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal.


name: renal tubular acidosis, distal, 4, with hemolytic anemia

description: Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.


exploration behavior

description: The specific behavior of an organism in response to a novel environment or stimulus.


locomotory exploration behavior

description: The specific movement from place to place of an organism in response to a novel environment.


name: Refractory Chronic Myelomonocytic Leukemia

description: Chronic myelomonocytic leukemia that is resistant to treatment.


Wilson-Turner syndrome

description: A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.


osteogenesis imperfecta type 12

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.


name: combined immunodeficiency due to DOCK8 deficiency

description: Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).


mediastinum rhabdomyosarcoma

description: A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum.


name: Acrodysostosis 1 with or without hormone resistance

description: An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.


acrodysostosis

description: Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.


name: acrodysostosis 2 with or without hormone resistance

description: Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.


ethmoidal sinus neoplasm

description: A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


benign neoplasm of sphenoidal sinus

description: A non-metastasizing neoplasm that arises from the sphenoid sinus.


sphenoidal sinus neoplasm

description: A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


maxillary sinus neoplasm

description: A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


benign neoplasm of ethmoidal sinus

description: A benign neoplasm that involves the ethmoid sinus.


benign neoplasm of maxillary sinus

description: A benign neoplasm that involves the maxillary sinus.


paranasal sinus cancer

description: A primary or metastatic malignant neoplasm involving the paranasal sinuses.