mediastinum seminoma

description: An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors.


polyembryoma

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

description: Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.


name: ovarian yolk sac tumor, hepatoid pattern

description: A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue.


extragonadal teratoma

description: Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor.


name: childhood central nervous system immature teratoma

description: An immature teratoma that arises from the central nervous system and occurs during childhood.


name: central nervous system nongerminomatous germ cell tumor

description: Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor.


name: enteric pattern testicular yolk sac tumor

description: A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands.


name: childhood central nervous system mature teratoma

description: A mature teratoma that arises from the central nervous system during childhood.


name: ovarian yolk sac tumor, polyvesicular vitelline pattern

description: A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues.


name: childhood central nervous system germ cell tumor

description: A germ cell tumor of the central nervous system occurring in children.


childhood ovarian embryonal carcinoma

description: An embryonal carcinoma that arises from the ovary and occurs in children.


intratubular embryonal carcinoma

description: Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


pineal region mature teratoma

description: A mature teratoma that arises from the pineal region.


cardiac germ cell tumor

description: A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors.


name: childhood central nervous system germinoma

description: A germinoma arising from the central nervous system during childhood.


name: adult central nervous system mixed germ cell tumor

description: A mixed germ cell tumor of central nervous system that occurs in an adult.


childhood endodermal sinus tumor

description: A yolk sac tumor that occurs during childhood.


extragonadal germ cell cancer

description: A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.


name: adult central nervous system mature teratoma

description: A central nervous system mature teratoma that occurs in an adult.


uterine corpus choriocarcinoma

description: An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.


pediatric CNS choriocarcinoma

description: A choriocarcinoma that arises from the central nervous system and occurs during childhood.


name: non-central nervous system-localized embryonal carcinoma


name: embryonal carcinoma of the central nervous system

description: A embryonal carcinoma that involves the central nervous system.


ovarian embryonal carcinoma

description: An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.


name: extragonadal nonseminomatous germ cell tumor

description: A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.


name: testicular yolk sac tumor, papillary pattern

description: A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli.


testis polyembryoma

description: A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies.


pineal region teratoma

description: A mature or immature teratoma that arises in the pineal region.


mixed extragonadal germ cell cancer

description: A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle.


name: testicular yolk sac tumor, glandular-alveolar pattern

description: A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures.


name: childhood central nervous system mixed germ cell tumor

description: A mixed germ cell tumor that arises from the central nervous system and occurs during childhood.


name: mixed germ cell tumor of central nervous system

description: A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia.


name: testicular yolk sac tumor, hepatoid pattern

description: A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections.


childhood brain germinoma

description: A germinoma arising from the brain during childhood.


vaginal yolk sac tumor

description: A rare yolk sac tumor that arises from the vagina. Patients present with abnormal vaginal bleeding or bloody discharge.


childhood germ cell brain tumor

description: A germ cell tumor arising from brain during childhood.


name: central nervous system endodermal sinus tumor

description: A yolk sac tumor that arises from the central nervous system and occurs during childhood.


pineal region yolk sac tumor

description: A yolk sac tumor that involves the pineal body.


central nervous system teratoma

description: A mature or immature teratoma that affects the central nervous system.


Stage IVA Vaginal Cancer AJCC v8

description: Stage IVA includes: T4, Any N, M0. 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. (from AJCC 8th Ed.)


inhibition of epinephrine uptake

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

description: Any process that prevents the activation of the directed movement of epinephrine into a cell.


nicotinamide riboside catabolic process

description: The chemical reactions and pathways resulting in the breakdown of nicotinamide riboside, the product of the formation of a glycosidic bond between ribose and nicotinamide.


name: positive regulation of bipolar cell growth

description: Any process that activates or increases the frequency, rate or extent of bipolar cell growth, polarized growth from both ends of a cell.


name: positive regulation of chondrocyte hypertrophy

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


name: positive regulation of root hair elongation

description: Any process that activates or increases the frequency, rate or extent of root hair elongation.


name: positive regulation of monopolar cell growth

description: Any process that activates or increases the frequency, rate or extent of monopolar cell growth, polarized growth from one end of a cell.


activation of bipolar cell growth

description: Any process that initiates the inactive process of bipolar cell growth, polarized growth from both ends of a cell.


name: positive regulation of direction of cell growth

description: Any process that increases the direction of cell growth.


name: positive regulation of unidimensional cell growth

description: Any process that activates or increases the frequency, rate or extent of unidimensional cell growth, the process in which a cell irreversibly increases in size in one [spatial] dimension or along one axis.


activation of monopolar cell growth

description: Any process that initiates the inactive process of monopolar cell growth, polarized growth from one end of a cell.


nitronate monooxygenase activity

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

description: Catalysis of the reaction: ethylnitronate + O2 = acetaldehyde + nitrite.


name: negative regulation of infection cushion formation

description: Any process that stops, prevents, or reduces the frequency, rate or extent of symbiont infection cushion formation on or near its host organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.


name: Childhood Anaplastic Sarcoma of the Kidney

description: An anaplastic sarcoma of the kidney that occurs during childhood.


name: idiopathic multidrug-resistant nephrotic syndrome


daunorubicin biosynthetic process

description: The chemical reactions and pathways resulting in the formation of daunorubicin.


daunorubicin catabolic process

description: The chemical reactions and pathways resulting in the breakdown of daunorubicin.


name: Refractory Diffuse Intrinsic Pontine Glioma

description: Diffuse intrinsic pontine glioma that is resistant to treatment.


name: Childhood Diffuse Intrinsic Pontine Glioma

description: A diffuse intrinsic pontine glioma that occurs during childhood.


Adult Diffuse Intrinsic Pontine Glioma

description: A diffuse intrinsic pontine glioma that occurs during adulthood.


name: Recurrent Diffuse Intrinsic Pontine Glioma

description: The reemergence of diffuse intrinsic pontine glioma after a period of remission.


motor nucleus of trigeminal nerve

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

description: Nucleus located in the pontine tegmentum containing cells that give rise to motor innervation of the jaw through the trigeminal nerve. It receives both crossed and uncrossed fibers from the cerebral cortex (Heimer, L. The Human Brain and Spinal Cord, 2nd ed., 1996, pg 248).


name: principal sensory nucleus of trigeminal nerve

description: The principal sensory nucleus (or chief sensory nucleus of V) is a group of second order neurons which have cell bodies in the dorsal Pons. It receives information about discriminative sensation and light touch of the face as well as conscious proprioception of the jaw via first order neurons of CN V. Most of the sensory information crosses the midline and travels to the contralateral ventral posteriomedial (VPM) of the thalamus via the Ventral Trigeminothalamic Tract, but information of the oral cavity travels to the ipsilateral Ventral Posteriomedial (VPM) of the thalamus via the Dorsal Trigeminothalamic Tract. [WP,unvetted].


trigeminal sensory nucleus

description: The sensory trigeminal nerve nuclei are the largest of the cranial nerve nuclei, and extend through the whole of the midbrain, pons and medulla. The nucleus is divided into three parts, from rostral to caudal (top to bottom in humans): * The mesencephalic nucleus * The chief sensory nucleus (or pontine nucleus or main sensory nucleus or primary nucleus) * The spinal trigeminal nucleus[WP].


name: mesencephalic nucleus of trigeminal nerve

description: Elongated nucleus located in the midbrain tegmentum that receives proprioceptive input from both teh extraocular and the masticatory muscles. Contrary to the general rule, the cell bodies that give rise to these sensory fibers are located within the mesencephalic nucleus rather than in a peripheral ganglion. Some of the sensory fibers in the mesencephalic root give off collaterals to the trigeminal motor nucleus, thereby providing the anatomic basis for the monosynaptic jaw reflex. (Heimer, L. The Human Brain and Spinal Cord, 2nd ed. 1996, page 248).


name: uterine corpus atypical polypoid adenomyoma

description: An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision.


adenomyoma of uterine corpus

description: A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue.


name: vasoconstriction of artery involved in aortic body chemoreceptor response to lowering of systemic arterial blood pressure

description: A process that is triggered by aortic body-vasomotor excitation and results in a decrease in the diameter of an artery during the chemoreceptor response to decreased blood pressure.


name: vasoconstriction of artery involved in chemoreceptor response to lowering of systemic arterial blood pressure

description: A process that is triggered by vasomotor excitation and results in a decrease in the diameter of an artery during the chemoreceptor response to decreased blood pressure.


name: vasoconstriction of artery involved in carotid body chemoreceptor response to lowering of systemic arterial blood pressure

description: A process that is triggered by carotid body-vasomotor excitation and results in a decrease in the diameter of an artery during the chemoreceptor response to decreased blood pressure.


name: negative regulation of natural killer cell proliferation involved in immune response

description: Any process that stops, prevents, or reduces the frequency, rate or extent of natural killer cell proliferation as part of an immune response.


name: regulation of natural killer cell proliferation involved in immune response

description: Any process that modulates the frequency, rate or extent of natural killer cell proliferation as part of an immune response.


name: positive regulation of natural killer cell proliferation involved in immune response

description: Any process that activates or increases the frequency, rate or extent of natural killer cell proliferation as part of an immune response.


cellular response to reversine

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 reversine stimulus.


name: positive regulation of MyD88-independent toll-like receptor signaling pathway

description: Any process that activates or increases the frequency, rate, or extent of MyD88-independent toll-like receptor signaling pathway.


name: Childhood TdT Negative Acute Lymphoblastic Leukemia

description: TdT negative acute lymphoblastic leukemia that occurs during childhood.


name: TdT Negative Acute Lymphoblastic Leukemia


name: Adult TdT Negative Acute Lymphoblastic Leukemia

description: TdT negative acute lymphoblastic leukemia that occurs during adulthood.


name: positive regulation of rDNA heterochromatin formation

description: Any process that activates or increases the frequency, rate or extent of rDNA heterochromatin formation.


name: positive regulation of heterochromatin formation

description: Any process that activates or increases the frequency, rate or extent of heterochromatin formation.


name: positive regulation of silent mating-type cassette heterochromatin formation

description: Any process that increases the frequency, rate, or extent of heterochromatin formation at silent mating-type cassette.


name: positive regulation of DNA methylation-dependent heterochromatin formation

description: Any process that increases the rate, frequency, or extent of DNA methylation-dependent heterochromatin formation.


name: positive regulation of pericentric heterochromatin formation

description: Any process that increases the frequency, rate or extent of pericentric heterochromatin formation.


primary ciliary dyskinesia 16

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.


name: metanephric extraglomerular mesangial cell proliferation involved in metanephros development

description: The multiplication or reproduction of extraglomerular glomerular mesangium cells in the metanephros by cell division, resulting in the expansion of their population. Extraglomerular mesangial cells (also known as lacis cells, Goormaghtigh cells) are light-staining cells in the kidney found outside the glomerulus, near the vascular pole and macula densa.


Borderline Breast Phyllodes Tumor

description: A phyllodes tumor of the breast characterized by the presence of intermediate features and a stroma which usually resembles low grade fibrosarcoma.


name: intermediate-density lipoprotein particle clearance

description: The process in which a intermediate-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.


fatal familial insomnia

description: Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.


name: Endometrioid Tumor, Variant with Squamous Differentiation

description: An endometrioid tumor exhibiting squamous differentiation.


name: Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

description: An endometrioid adenocarcinoma exhibiting squamous differentiation.


Low Complement

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

description: A decreased amount of complement (e.g. C3, C4, CH50) as determined through quantitative measurement. May be due to a genetic deficiency or from overconsumption due to an infection or a co-morbid autoimmune disorder.


description: Catalysis of the reaction: 4,5-dihydroxybenzo(a)pyrene + C1 unit = hydroxymethoxybenzo(a)pyrene.


methanogenesis, from methanol

description: The formation of methane, a colorless, odorless, flammable gas with the formula CH4, from other components, including methanol.


miltiradiene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of miltiradiene.


carotene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of carotenes, hydrocarbon carotenoids.


name: methane biosynthetic process from methylamine

description: The chemical reactions and pathways resulting in the formation of a methane from a methylamine.


anaerobic toluene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of toluene, a volatile monoaromatic hydrocarbon found in crude petroleum and petroleum products, in the absence of oxygen.


alpha-pinene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of alpha-pinene, a monoterpene that may be a significant factor affecting bacterial activities in nature.


name: methane biosynthetic process from trimethylamine

description: The chemical reactions and pathways resulting in the formation of a methane from a trimethylamine.


methanogenesis

description: The chemical reactions and pathways resulting in the formation of methane, a colorless, odorless, flammable gas with the formula CH4. It is the simplest of the alkanes.


monoterpene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of monoterpenes, terpenes with a C10 structure.


heptadec-1-ene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of heptadec-1-ene.


lycopene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of lycopene.


olefin biosynthetic process

description: The chemical reactions and pathways resulting in the formation of olefin.


alpha-copaene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of alpha-copaene.


name: methane biosynthetic process from methanethiol

description: The chemical reactions and pathways resulting in the formation of a methane from a methanethiol.


octadecene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of octadecene.


sesquiterpene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of sesquiterpenes, any of a class of terpenes of the formula C15H24 or a derivative of such a terpene.


methanogenesis, from acetate

description: The formation of methane, a colorless, odorless, flammable gas with the formula CH4, from other components, including acetate.


name: methane biosynthetic process from methanol and hydrogen

description: The chemical reactions and pathways resulting in the formation of methane from methanol and hydrogen.


pentadec-1-ene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of pentadec-1-ene.


name: ethylene biosynthesis involved in jasmonic acid and ethylene-dependent systemic resistance

description: The chemical reactions and pathways resulting in the formation of ethylene (C2-H4, ethene), occurring as part of the process of jasmonic acid and ethylene-dependent systemic resistance.


benzene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of benzene.


description: The chemical reactions and pathways resulting in the formation of 17-methylnonadec-1-ene.


alpha-zeacarotene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of alpha-zeacarotene.


name: methane biosynthetic process from dimethylamine

description: The chemical reactions and pathways resulting in the formation of a methane from a dimethylamine.


description: The chemical reactions and pathways resulting in the formation of (Z)-nonadeca-1,14-diene.


beta-carotene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of beta-carotene.


name: methane biosynthetic process from carbon monoxide

description: The chemical reactions and pathways resulting in the formation of a methane from a carbon monoxide.


methanogenesis, from carbon dioxide

description: The chemical reactions and pathways resulting in the formation of methane, a colorless, odorless, flammable gas with the formula CH4, from other compounds, including carbon dioxide (CO2).


terpene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of terpenes, any of a large group of hydrocarbons made up of isoprene units.


name: methane biosynthetic process from formic acid

description: The chemical reactions and pathways resulting in the formation of a methane from a formic acid.


alkene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of an alkene, any acyclic branched or unbranched hydrocarbon having one carbon-carbon double bond and the general formula CnH2n.


sesquarterpene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of sesquarterpene.


beta-caryophyllene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of beta-caryophyllene.


limonene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of limonene (4-isopropenyl-1-methyl-cyclohexene), a monocyclic monoterpene.


nonadec-1-ene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of nonadec-1-ene.


ent-kaurene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of ent-kaurene. Ent-kaurene is a tetracyclic diterpenoid that is a precursor of several plant isoprenoids, including gibberellins.


beta-zeacarotene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of beta-zeacarotene.


bicyclogermacrene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of bicyclogermacrene.


name: diterpene phytoalexin precursor biosynthetic process pathway

description: A branched pathway that produces the precursors to four structurally distinct types of polycyclic diterpenes. The pathway starts with the cyclization of geranylgeranyl diphosphate into ent-copalyl diphosphate and syn-copalyl diphosphate. The catalytic conversion by diterpene cyclases of these two compounds produces the four diterpene hydrocarbons which are precursors to the four structurally distinct classes of diterpene phytoalexins.


isoprene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of isoprene, C5H8.


phytoene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of phytoene.


name: methane biosynthetic process from dimethyl sulfide

description: The chemical reactions and pathways resulting in the formation of a methane from a dimethyl sulfide.


toluene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of toluene, a volatile monoaromatic hydrocarbon found in crude petroleum and petroleum products.


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


ethylene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of ethylene (C2-H4, ethene), a simple hydrocarbon gas that can function in plants as a growth regulator.


cadinene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of cadinene.


description: The chemical reactions and pathways resulting in the formation of 18-methylnonadec-1-ene.


name: methane biosynthetic process from 3-(methylthio)propionic acid

description: The chemical reactions and pathways resulting in the formation of a methane from a 3-(methylthio)propionic acid.


1-undecene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of 1-undecene.


culmorin biosynthetic process

description: The chemical reactions and pathways resulting in the formation of culmorin, a sesquiterpenoid fungal metabolite and mycotoxin produced by some ascomycete species such as Fusarium culmorum, F. graminearum, F. venenatum and Leptosphaeria oraemaris.


segment polarity determination

description: Division of the 14 parasegments of the embryo into anterior and posterior compartments; exemplified by the actions of the segment polarity gene products.


periodic partitioning

description: The regionalization process that divides the spatial regions of an embryo into serially repeated regions.


periodic partitioning by pair rule gene

description: Allocation of cells to parasegments in the embryo, through the action of overlapping series of pair rule gene activities.


penile bulb artery

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

description: A short vessel of large caliber which arises from the internal pudendal between the two layers of fascia of the urogenital diaphragm; it passes medialward, pierces the inferior fascia of the urogenital diaphragm, and gives off branches which ramify in the bulb of the urethra and in the posterior part of the corpus spongiosum. It gives off a small branch to the bulbo-urethral gland.


COVID-19-Associated Ageusia

description: Ageusia caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).


Benign Cardiac Germ Cell Tumor

description: A germ cell tumor that arises within the myocardium or cardiac chambers. There is no evidence of atypia or metastases.


Malignant Pancreatic Insulinoma

description: An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas.  Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. It displays vascular invasion and metastasizes to other anatomic sites.


TERT Deficiency

description: A condition of decreased or absent presence of telomerase reverse transcriptase. Deficiency of this protein is associated with autosomal dominant dyskeratosis congenital 2, autosomal recessive dyskeratosis congenita 4, telomere-related pulmonary fibrosis, and bone marrow failure 1.


Ovarian Dermoid Cyst with Melanoma

description: A secondary melanoma that has developed in an ovarian dermoid cyst.


gonadal teratoma

description: A teratoma that arises from the testis or ovary.


mature ovarian teratoma

description: An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.


Grade 1 Ovarian Teratoma

description: A teratoma that arises from the ovary. It contains mature tissue elements and a limited amount of immature tissue elements.


Childhood Testicular Immature Teratoma

description: An immature teratoma that arises from the testis and occurs in children.


name: Ovarian Dermoid Cyst with Adenocarcinoma

description: A secondary adenocarcinoma that has developed in an ovarian dermoid cyst.


Stage I Ovarian Teratoma AJCC v6 and v7

description: Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


name: Ovarian Dermoid Cyst with Leiomyosarcoma

description: A secondary leiomyosarcoma that has developed in an ovarian dermoid cyst.


childhood immature teratoma of ovary

description: An immature teratoma that arises from the ovary and occurs in children.


name: Stage IV Ovarian Teratoma AJCC v6 and v7

description: Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)


name: Testicular Teratoma with Somatic-Type Malignancy

description: A testicular teratoma associated with a distinct secondary component that resembles a somatic-type malignant neoplasm (e.g., carcinoma or sarcoma).


struma ovarii

description: An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion).


name: Ovarian Dermoid Cyst with Somatic-Type Malignancy

description: An ovarian dermoid cyst associated with a distinct secondary component that resembles a somatic-type malignant neoplasm (e.g., carcinoma or sarcoma).


immature ovarian teratoma

description: A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients.


name: Ovarian Dermoid Cyst with Secondary Carcinoma

description: A secondary carcinoma that has developed in an ovarian dermoid cyst.  In the majority of cases, the secondary carcinoma is a squamous cell carcinoma.


name: Ovarian Dermoid Cyst with Secondary Sebaceous Tumor

description: A secondary sebaceous adenoma or sebaceous carcinoma that has developed in an ovarian dermoid cyst.


Ovarian Teratoma with Carcinoid Tumor

description: An ovarian teratoma characterized by the presence of a neoplastic neuroendocrine component consistent with carcinoid tumor.


Strumal carcinoid

description: An ovarian neoplasm characterized by the presence of aberrant thyroid tissue and a carcinoid tumor. A minority of patients develop symptoms of functioning thyroid tissue. The neuroendocrine carcinoid cells infiltrate the aberrant thyroid tissue and progressively replace the follicular lining cells.


name: Stage I Testicular Immature Teratoma AJCC v6 and v7

description: Stage I includes: pT1-4, N0, M0, SX.  pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis.  pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis.  pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion.  pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)


name: Ovarian Dermoid Cyst with Secondary Tumor

description: An adult-type tumor that has derived from an ovarian dermoid cyst.  Representative examples include dermoid cyst with secondary carcinoma, dermoid cyst with secondary sarcoma, and dermoid cyst with pituitary-type tumor.


name: Ovarian Dermoid Cyst with Secondary Sarcoma

description: A secondary sarcoma that has developed in an ovarian dermoid cyst.  Representative examples of secondary sarcomas include leiomyosarcoma, fibrosarcoma, and angiosarcoma.


ovarian biphasic or triphasic teratoma

description: A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm.


name: Stage III Testicular Immature Teratoma AJCC v6 and v7

description: Stage III includes: Any pT/TX, Any N, M1, SX.  M1: Distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


Childhood Testicular Teratoma

description: A teratoma that arises from the testis during childhood.


ovarian monodermal teratoma

description: A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer.


Testicular Teratoma, Prepubertal-Type

description: A testicular teratoma that is not associated with germ cell neoplasia in situ or chromosome 12p amplification.


name: Stage III Ovarian Teratoma AJCC v6 and v7

description: Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


name: Ovarian Dermoid Cyst with Corticotropin Secreting Adenoma

description: A corticotropin secreting adenoma that has developed in an ovarian dermoid cyst.  It may present with Cushing syndrome.  The clinical course is benign.


Malignant Ovarian Teratoma

description: A teratoma that arises from the ovary. It is composed exclusively of immature tissue elements.


name: Ovarian Dermoid Cyst with Secondary Pituitary-Type Tumor

description: A secondary corticotropin secreting adenoma or prolactin secreting adenoma that has developed in an ovarian dermoid cyst.  The clinical course is benign.


Testicular Dermoid Cyst

description: A mature teratoma that arises from the testis and is characterized by the presence of one or more cysts.  The cysts are lined by squamous epithelium and contain skin appendages.  Other teratomatous components may or may not be present.


Monodermal Testicular Teratoma

description: A teratoma that arises from the testis.  It is composed exclusively of one of the following tissue types: endoderm, ectoderm, or mesoderm.


ovarian cystic teratoma

description: A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst.


name: Ovarian Dermoid Cyst with Squamous Cell Carcinoma

description: A secondary squamous cell carcinoma that has developed in an ovarian dermoid cyst.


childhood teratoma of the ovary

description: A mature or immature teratoma that arises from the ovary and occurs in children.


name: Ovarian Dermoid Cyst with Sebaceous Carcinoma

description: A secondary sebaceous carcinoma that has developed in an ovarian dermoid cyst.


name: Stage II Testicular Immature Teratoma AJCC v6 and v7

description: Stage II includes: Any pT/TX, N1-3, M0, SX.  pTX: Primary tumor cannot be assessed.  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


ovarian fetiform teratoma

description: A rare type of teratoma that arises from the ovary and resembles a malformed fetus.


name: Ovarian Dermoid Cyst with Melanocytic Nevus

description: A secondary melanocytic nevus that has developed in an ovarian dermoid cyst.


name: Ovarian Dermoid Cyst with Sebaceous Adenoma

description: A secondary sebaceous adenoma that has developed in an ovarian dermoid cyst.


childhood mature teratoma of the ovary

description: A mature teratoma that arises from the ovary and occurs in children.


name: Ovarian Dermoid Cyst with Secondary Melanocytic Lesion

description: A secondary melanoma or melanocytic nevus that has developed in an ovarian dermoid cyst.


Testicular Mature Teratoma

description: A teratoma that arises from the testis and is composed of well differentiated, adult-type tissues.


name: Stage II Ovarian Teratoma AJCC v6 and v7

description: Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


name: Ovarian Dermoid Cyst with Prolactin Secreting Adenoma

description: A prolactin secreting adenoma that has developed in an ovarian dermoid cyst.  It may present with hyperprolactinemia and amenorrhea.  The clinical course is benign.


malignant teratoma of testis

description: A malignant teratoma that involves the testis.


Childhood Testicular Mature Teratoma

description: A mature teratoma that arises from the testis and occurs in children.


Testicular Teratoma, Postpubertal-Type

description: A testicular teratoma associated with germ cell neoplasia in situ and chromosome 12p amplification.


name: ovarian monodermal and highly specialized teratoma

description: A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue.


Ovarian Dermoid Cyst with Angiosarcoma

description: A secondary angiosarcoma that has developed in an ovarian dermoid cyst.


SAS acetyltransferase complex

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

description: A protein complex that possesses histone acetyltransferase activity and links histone acetylation to the assembly of transcriptionally silent chromatin. In vitro, the complex acetylates lysine 16 of histone H4 and lysine 14 of histone H3, although the latter may not be relevant in vivo. The complex contains a catalytic subunit and at least two other subunits; in Saccharomyces, the catalytic subunit is Sas2p and additional subunits are Sas4p and Sas5p.


name: postsynaptic spectrin-associated cytoskeleton organization

description: A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of spectrin-associated cytoskeleton and associated proteins in the postsynapse.


postsynaptic cytoskeleton organization

description: A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising cytoskeletal filaments and their associated proteins in the postsynaptic cytoskeleton.


name: postsynaptic actin cytoskeleton organization

description: A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins in the postsynaptic actin cytoskeleton.


name: postsynaptic intermediate filament cytoskeleton organization

description: A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprised of intermediate filament and their associated proteins in the postsynaptic cytoskeleton.


left ventricular noncompaction 7

description: Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene.


dilated cardiomyopathy 1DD

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.


dilated cardiomyopathy 1CC

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.


46,XY sex reversal 4

description: Sex reversal in an individual associated with a 9p24.3 deletion.


Chagas cardiomyopathy

description: A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly.


name: Beckwith-Wiedemann syndrome due to CDKN1C mutation


dilated cardiomyopathy 1J

description: An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.


name: 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency


viral dilated cardiomyopathy

description: An dilated cardiomyopathy caused by infection with Viruses.


name: familial isolated arrhythmogenic ventricular dysplasia, right dominant form


dilated cardiomyopathy 1AA

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.


LEOPARD syndrome 2

description: Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.


name: cardiomyopathy, familial hypertrophic, 28


left ventricular noncompaction 8

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.


cardiofaciocutaneous syndrome 3

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.


Noonan syndrome 1

description: Noonan syndrome caused by mutations in the PTPN11 gene.


name: DK1-congenital disorder of glycosylation

description: DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.


Noonan syndrome 8

description: Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.


name: Emery-Dreifuss muscular dystrophy 2, autosomal dominant

description: Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.


name: multiple acyl-CoA dehydrogenase deficiency

description: A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.


name: familial isolated arrhythmogenic ventricular dysplasia, biventricular form


name: arrhythmogenic right ventricular dysplasia 6

description: An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.


Noonan syndrome 11

description: Noonan syndrome caused by autosomal dominant mutation(s) in the MRAS gene, encoding Ras-related protein M-Ras.


Costello syndrome

description: Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.


Legius syndrome

description: Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.


hypertrophic cardiomyopathy 4

description: An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.


hypertrophic cardiomyopathy 14

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.


Noonan syndrome 5

description: Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.


dilated cardiomyopathy 1U

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.


myotonic dystrophy type 1

description: Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.


description: Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.


name: arrhythmogenic right ventricular dysplasia 13

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene.


cardiomyopathy, dilated, 2c

description: A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.


dilated cardiomyopathy 1L

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene.


dilated cardiomyopathy 1X

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.


name: arrhythmogenic right ventricular dysplasia 11

description: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.


name: arrhythmogenic right ventricular dysplasia 8

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.


Noonan syndrome 7

description: Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene.


dilated cardiomyopathy 1C

description: A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.


dilated cardiomyopathy 1M

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.


name: arrhythmogenic right ventricular dysplasia 5

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.


bacterial myocarditis

description: Myocarditis that is caused by an infection with a bacterial agent.


cardiac sarcoidosis

description: Sarcoidosis affecting the tissues of the heart.


dilated cardiomyopathy 1H

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.


Loeffler endocarditis

description: Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma.


atrial standstill 1

description: Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene.


dilated cardiomyopathy 1R

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.


alcoholic cardiomyopathy

description: A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years.


name: arrhythmogenic right ventricular dysplasia 3

description: An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.


intrinsic cardiomyopathy

description: A cardiomyopathy that is due to abnormalities in heart muscle cells.


hypertrophic cardiomyopathy 26

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.


name: very long chain acyl-CoA dehydrogenase deficiency

description: An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.


interstitial myocarditis

description: Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present.


PRKAG2-related cardiomyopathy

description: A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells.


name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15


name: Beckwith-Wiedemann syndrome due to 11p15 microduplication


giant cell myocarditis

description: An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available.


dilated cardiomyopathy 1I

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.


hypertrophic cardiomyopathy 10

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.


noonan syndrome 12

description: Noonan syndrome caused by autosomal dominant mutation(s) in the RRAS2 gene, encoding Ras-related protein R-Ras2.


name: glycogen storage disease due to acid maltase deficiency, infantile onset

description: Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.


Hurler syndrome

description: Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.


name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.


cardiomyopathy, dilated, 1MM

description: A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.


LEOPARD syndrome 1

description: Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.


cardiomyopathy, dilated, 2E

description: A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.


description: X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.


Emery-Dreifuss muscular dystrophy

description: Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.


dilated cardiomyopathy 1EE

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.


hypertrophic cardiomyopathy 13

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.


myofibrillar myopathy 1

description: A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.


hypertrophic cardiomyopathy 11

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.


dilated cardiomyopathy 1KK

description: Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.


Noonan syndrome 4

description: Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.


cardiomyopathy, dilated, 2F

description: A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32.


diphtheritic myocarditis

description: An myocarditis caused by infection with Corynebacterium diphtheriae.


hypertrophic cardiomyopathy 15

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.


name: congenital myopathy 7A, myosin storage, autosomal dominant


name: arrhythmogenic right ventricular dysplasia 12

description: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene.


hypertrophic cardiomyopathy 18

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.


name: Emery-Dreifuss muscular dystrophy 7, autosomal dominant

description: Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.


atrial standstill 2

description: Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene.


name: long chain acyl-CoA dehydrogenase deficiency

description: A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.


name: cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies


hypertrophic cardiomyopathy 7

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.


glutaric acidemia IIc

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.


dilated cardiomyopathy 1NN

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.


peripartum cardiomyopathy

description: Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery.


cardiofaciocutaneous syndrome 1

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.


left ventricular noncompaction 1

description: Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene.


name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion


name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.


dilated cardiomyopathy 2A

description: A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.


name: Emery-Dreifuss muscular dystrophy 5, autosomal dominant

description: Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.


familial cardiomyopathy

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


glutaric acidemia IIb

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.


dilated cardiomyopathy 1S

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.


dilated cardiomyopathy 1GG

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.


primary localized amyloidosis

description: Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin.


dilated cardiomyopathy 1E

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.


Noonan syndrome 6

description: Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene.


hypertrophic cardiomyopathy 19

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene.


dilated cardiomyopathy 1D

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.


dilated cardiomyopathy 1P

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.


hypertrophic cardiomyopathy 21

description: A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.


Noonan syndrome 13

description: Noonan syndrome caused by autosomal dominant mutation(s) in the MAPK1 gene, encoding mitogen-activated protein kinase 1.


non-compaction cardiomyopathy

description: Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.


name: arrhythmogenic right ventricular dysplasia, familial, 14


description: X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.


hypertrophic cardiomyopathy 3

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.


LEOPARD syndrome 3

description: Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene.


name: cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction


hypertrophic cardiomyopathy 12

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.


name: progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

description: Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.


dilated cardiomyopathy 1JJ

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.


hypertrophic cardiomyopathy 16

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.


dilated cardiomyopathy 1FF

description: A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.


dilated cardiomyopathy 1Z

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.


name: arrhythmogenic right ventricular dysplasia 9

description: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.


name: Noonan syndrome with multiple lentigines

description: A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.


Noonan syndrome

description: Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.


name: X-linked Emery-Dreifuss muscular dystrophy

description: X-linked form of Emery-Dreifuss muscular dystrophy.


episodic angioedema with eosinophilia

description: A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns.


familial hypertrophic cardiomyopathy

description: Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.


cardiomyopathy, familial restrictive, 1

description: Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.


dilated cardiomyopathy 1BB

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.


familial restrictive cardiomyopathy

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


familial dilated cardiomyopathy

description: A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.


fatal infantile encephalocardiomyopathy

description: Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.


Noonan syndrome 9

description: Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene.


name: multiple acyl-CoA dehydrogenase deficiency, severe neonatal type


hypertrophic cardiomyopathy 8

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.


ATTRV122I amyloidosis

description: A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.


extrinsic cardiomyopathy

description: A cardiomyopathy that is not due to abnormalities in heart muscle cells.


cardiomyopathy, familial restrictive, 3

description: Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


dilated cardiomyopathy 3B

description: Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.


rheumatic myocarditis

description: Inflammation of the myocardium in acute rheumatic heart disease.


Keshan disease

description: A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.


Noonan syndrome 10

description: Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.


cardiofaciocutaneous syndrome

description: Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.


Beckwith-Wiedemann syndrome

description: Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.


name: autosomal dominant Emery-Dreifuss muscular dystrophy

description: Autosomal dominant form of Emery-Dreifuss muscular dystrophy.


name: arrhythmogenic right ventricular dysplasia 1

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.


name: Noonan syndrome-like disorder with loose anagen hair 1

description: An inherited condition caused by autosomal dominant mutation(s) in the SHOC2 gene, encoding leucine-rich repeat protein SHOC-2. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.


dilated cardiomyopathy 1HH

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.


name: PGM1-congenital disorder of glycosylation


primary systemic amyloidosis

description: Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.


dilated cardiomyopathy 1G

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.


eosinophilia-myalgia syndrome

description: A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93)


name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome


name: Beckwith-Wiedemann syndrome due to NSD1 mutation


name: Emery-Dreifuss muscular dystrophy 6, X-linked


name: hypereosinophilia of undetermined significance

description: Long-lasting, unexplained and asymptomatic blood hypereosinophilia.


name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion


glutaric acidemia IIa

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.


name: Noonan syndrome-like disorder with loose anagen hair 2

description: An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.


dilated cardiomyopathy 1Q

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.


name: disseminated eosinophilic collagen disease


name: glycogen storage disease due to acid maltase deficiency, late-onset

description: Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.


hypertrophic cardiomyopathy 17

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.


name: arrhythmogenic right ventricular dysplasia 10

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.


dilated cardiomyopathy 1O

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.


name: arrhythmogenic right ventricular cardiomyopathy

description: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.


glycogen storage disease II

description: Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.


name: Noonan syndrome and Noonan-related syndrome


hypertrophic cardiomyopathy 20

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.


dilated cardiomyopathy 1V

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.


dilated cardiomyopathy 1B

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.


Barth syndrome

description: Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.


left ventricular noncompaction 10

description: Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.


cardiofaciocutaneous syndrome 2

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.


name: long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

description: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.


hypertrophic cardiomyopathy 2

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


dilated cardiomyopathy 1W

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.


name: lethal congenital glycogen storage disease of heart

description: Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.


acute myocarditis

description: The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness.


autoimmune myocarditis

description: Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.


viral myocarditis

description: Myocarditis that is caused by an infection with a viral agent.


name: early-onset myopathy with fatal cardiomyopathy


name: hypertrophic cardiomyopathy due to intensive athletic training


name: cardiomyopathy, familial hypertrophic, 30, atrial


Noonan syndrome 3

description: Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.


name: Emery-Dreifuss muscular dystrophy 4, autosomal dominant

description: Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.


idiopathic cardiomyopathy

description: A disease of the heart muscle or myocardium proper whose cause is unknown.


hypertrophic cardiomyopathy 25

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.


hypertrophic cardiomyopathy 6

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.


AL amyloidosis

description: AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.


name: familial isolated arrhythmogenic ventricular dysplasia, left dominant form


cirrhotic cardiomyopathy

description: Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes.


name: symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

description: Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.


cardiomyopathy, dilated, 2G

description: A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.


Gaucher disease type I

description: Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.


description: An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.


dilated cardiomyopathy 1II

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.


Noonan syndrome 2

description: Noonan syndrome caused by autosomal recessive mutation(s) in the LZTR1 gene, encoding leucine-zipper-like transcriptional regulator 1.


Naxos disease

description: A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.


46,XY sex reversal 1

description: Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.


name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.


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

description: Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.


name: arrhythmogenic right ventricular dysplasia 4

description: An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.


name: multiple acyl-CoA dehydrogenase deficiency, mild type


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.


name: cardiomyopathy, familial hypertrophic 27

description: An autosomal recessive subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ALPK3 gene, encoding alpha-protein kinase 3.


autoimmune cardiomyopathy

description: An autoimmune form of cardiomyopathy.


dilated cardiomyopathy 1K

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.


dilated cardiomyopathy 1Y

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.


hypertrophic cardiomyopathy 9

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.


cardiofaciocutaneous syndrome 4

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.


name: Emery-Dreifuss muscular dystrophy 1, X-linked

description: Emery-Dreifuss muscular dystrophy inherited in an X-linked recessive pattern and caused by mutations in the EMD gene, encoding emerin.


name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11


name: familial isolated arrhythmogenic right ventricular dysplasia

description: Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.


dilated cardiomyopathy 2B

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.


name: congenital-onset Steinert myotonic dystrophy


cardiomyopathy, dilated, 2D

description: A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.


name: Emery-Dreifuss muscular dystrophy 3, autosomal recessive

description: Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.


name: catecholaminergic polymorphic ventricular tachycardia 1

description: Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.


dilated cardiomyopathy 1A

description: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.


name: Noonan syndrome-like disorder with loose anagen hair

description: Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.


tropical endomyocardial fibrosis

description: Tropical endomyocardial fibrosis is a restrictive cardiopathy, occurring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.


name: NKX2.5-related congenital, conduction and myopathic heart disease

description: A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome.


mixed cerebral palsy

description: A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.


benign neoplasm of spinal cord

description: A benign neoplasm that involves the spinal cord.


Sacral Chordoma

description: A chordoma that arises from the sacral area.


name: sacral spinal canal and spinal cord meningioma

description: A meningioma that arises from the meninges of the sacral region of the spinal cord.


Lumbar Spine Neoplasm

description: A benign or malignant neoplasm that affects the lumbar region of the spine.


spinal cord lymphoma

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


childhood spinal cord tumor

description: A benign or malignant neoplasm affecting the spinal cord during childhood.


spinal chordoma

description: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.


name: intradural extramedullary spinal canal neoplasm

description: A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression.


name: thoracic spinal canal and spinal cord meningioma

description: A meningioma that arises from the meninges of the thoracic region of the spinal cord.


name: lumbar spinal canal and spinal cord meningioma

description: A meningioma that arises from the meninges of the lumbar region of the spinal cord.


spinal cord sarcoma

description: A sarcoma that arises from the spinal cord.


intraspinal meningioma

description: A meningioma that arises from the spinal meninges.


epidural spinal canal neoplasm

description: A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord.


Cervical Spine Neoplasm

description: A benign or malignant neoplasm that affects the neck region of the spine.


name: Recurrent Childhood Spinal Cord Neoplasm

description: The reemergence of a spinal cord neoplasm in childhood after a period of remission.


Lumbosacral Spine Neoplasm

description: A benign or malignant neoplasm that affects the lumbosacral region of the spine.


epidural spinal canal angiolipoma

description: An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.


cauda equina neuroendocrine tumor

description: A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.


name: Refractory Childhood Spinal Cord Neoplasm

description: Spinal cord neoplasm in childhood which is resistant to treatment.


spinal multifocal clear cell meningioma

description: A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.


name: multiple spinal canal and spinal cord meningioma

description: Multiple meningiomas that arises from the spinal meninges.


Spinal Cord Pilocytic Astrocytoma

description: Pilocytic astrocytoma that arises from the spinal cord.


Drop Metastasis in the Spinal Cord

description: An intradural extramedullary spinal metastasis from an intracranial tumor through the cerebrospinal fluid.


name: metastatic malignant neoplasm in the spinal cord

description: A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.


spinal cord melanoma

description: A melanoma (disease) that involves the spinal cord.


name: Anaplastic (Malignant) Intraspinal Meningioma

description: An anaplastic (malignant) meningioma involving the spinal meninges.


conus medullaris neoplasm

description: A neoplasm (disease) that involves the conus medullaris.


Sacral Spine Neoplasm

description: A benign or malignant neoplasm that affects the sacral region of the spine.


Recurrent Adult Spinal Cord Neoplasm

description: The reemergence of a spinal cord neoplasm in adulthood after a period of remission.


Refractory Adult Spinal Cord Neoplasm

description: Spinal cord neoplasm in adulthood which is resistant to treatment.


Refractory Spinal Cord Neoplasm

description: Spinal cord neoplasm resistant to treatment.


lumbosacral lipoma

description: A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.


Childhood Spinal Cord Ependymoma

description: An ependymoma of the spinal cord not associated with MYCN amplification and occurring in children.


epidural spinal canal meningioma

description: A meningioma that arises in the epidural spinal canal space.


Thoracic Chordoma

description: A chordoma that arises from the thoracic spine.


cauda equina neoplasm

description: A neoplasm involving a cauda equina.


Thoracic Spine Neoplasm

description: A benign or malignant neoplasm that affects the thoracic region of the spine.


Intraspinal Neoplasm

description: A neoplasm that occurs within the spinal canal including the spinal cord and surrounding paraspinal spaces.


name: cervical spinal canal and spinal cord meningioma

description: A meningioma that arises from the meninges of the cervical region of the spinal cord.


spinal cord lipoma

description: A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.


Recurrent Spinal Cord Neoplasm

description: The reemergence of a spinal cord neoplasm after a period of remission.


Spinal meningioma benign

description: A grade I, slowly growing meningioma that arises from the spinal meninges.


Stage IB Fallopian Tube Cancer AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Fallopian tube cancer with tumor limited to fallopian tubes; no tumor on fallopian tube surface; no malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


epididymal adenomatoid tumor

description: A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis.


adenomatoid tumor

description: A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis.


pleural adenomatoid tumor

description: A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.


uterine corpus adenomatoid tumor

description: A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures.


fallopian tube adenomatoid tumor

description: A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding.


neurula embryo

description: An embryo at the neurula stage.


morula

description: A spherical embryonic mass of blastomeres formed before the blastula and resulting from cleavage of the fertilized ovum.


cleaving embryo

description: Organism at the cleavage stage.


blastula

description: Organism at the blastula stage - an early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence.


late embryo

description: An embryo that is at the late embryonic stage; this stage covers late steps of the embryogenesis with a fully formed embryo still developing before birth or egg hatching.


gastrula

description: Organism at the gastrula stage.