Stage IA Lung Adenosquamous Carcinoma AJCC v7

Stage IA includes: (T1a, N0, M0); (T1b, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7

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Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IIB Lung Adenosquamous Carcinoma AJCC v7

Stage IIB includes: (T2b, N1, M0); (T3, N0, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Stage IIA Lung Adenosquamous Carcinoma AJCC v7

Stage IIA includes: (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Adenosquamous cell lung cancer stage IIIB

Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IB Lung Adenosquamous Carcinoma AJCC v7

Stage IB includes: T2a, N0, M0.  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Adenosquamous cell lung cancer stage IIIA

Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


lethal osteosclerotic bone dysplasia

Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.


Conjunctival Subepithelial Nevus

A conjunctival nevus characterized by an intrastromal proliferation of predominantly type B nevus cells.


glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation

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The series of molecular signals generated as a consequence of a glial cell-derived neurotrophic factor receptor binding to one of its physiological ligands that contributes to the formation of the ureteric bud from the Wolffian duct.


reticular layer of dermis

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The thicker, deeper layer of the dermis, comprised of criss-crossing collagen fibers that form a strong elastic network and also containing blood and lymph vessels, nerves and nerve endings, and hair follicles.


Bethlem myopathy

A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.


RHYNS syndrome

RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.


isolated focal cortical dysplasia type Ib


isolated focal cortical dysplasia type I


isolated focal cortical dysplasia type Ia


isolated focal cortical dysplasia type Ic


polyenoic fatty acid isomerase activity

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Catalysis of the reaction: all-cis-icosa-5,8,11,14,17-pentaenoate = (5Z,7E,9E,14Z,17Z)-icosapentaenoate.


episodic kinesigenic dyskinesia

Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.


episodic kinesigenic dyskinesia 1

An autosomal dominant condition caused by mutation(s) in the PRRT2 gene, encoding proline-rich transmembrane protein 2. It is characterized by dyskinesia triggered by sudden movement. It shares features with infantile convulsions and paroxysmal choreoathetosis, familial. It is an allelic disorder.


paroxysmal nonkinesigenic dyskinesia 1

Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene.


episodic kinesigenic dyskinesia 2

A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.


paroxysmal nonkinesigenic dyskinesia 2

A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31.


paroxysmal nonkinesigenic dyskinesia

Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.


benign paroxysmal torticollis of infancy

Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterized by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children.


dystonia 9

A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.


ECHS1-related paroxysmal dyskinesia

A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years.


8-methylthiopropyl glucosinolate S-oxygenase activity

Catalysis of the reaction: 8-methylthiopropyl-glucosinolate = 8-methylsulfinylpropyl-glucosinolate.


anterior lateral line neuromast development

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

The process whose specific outcome is the progression of the anterior lateral line neuromast over time, from its formation to the mature structure. The neuromast is the sensory receptor of the anterior lateral line system and is composed of a population of sensory hair cells, and nonsensory supporting cells and mantle cells. Neuromast are located superficially on the epithelium or in lateral line canals.


Cervical Rhabdomyoma

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


Benign Cervical Soft Tissue Neoplasm

A rare benign mesenchymal neoplasm that arises from the cervix.


Cervical Leiomyoma

An uncommon benign smooth muscle neoplasm that arises from the cervix.


Metastatic Prostate Neuroendocrine Carcinoma

A neuroendocrine carcinoma that arises from the prostate gland and has spread to other anatomic sites.


Locally Advanced Prostate Neuroendocrine Carcinoma

A prostate neuroendocrine carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Metastatic Prostate Small Cell Neuroendocrine Carcinoma

Prostate small cell neuroendocrine carcinoma that has spread to another anatomic site.


vitamin D3 catabolic process

The chemical reactions and pathways resulting in the breakdown of vitamin D3.


sporangium germination

The physiological, developmental and morphological changes that occur in a symbiont sporangium following release from dormancy up to the earliest signs of growth. A sporangium is a structure producing and containing spores.


vitamin D5 metabolic process

The chemical reactions and pathways involving vitamin D5, (1S,3Z)-3-[(2E)-2-[(1R,3aS,7aR)-1-[(1R,4S)-4-ethyl-1,5-dimethylhexyl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylene-1-cyclohexanol.


central nervous system mature teratoma

A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO)


extragonadal germ cell tumor

A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum).


adult central nervous system germ cell tumor

A germ cell tumor of the central nervous system occurring in adults.


adult central nervous system immature teratoma


gestational uterine corpus choriocarcinoma

A gestational choriocarcinoma that involves the body of uterus.


brain germinoma

A germinoma (disease) that involves the brain.


central nervous system germ cell tumor

A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.


adult central nervous system germinoma

A central nervous system germinoma that occurs in an adult.


gestational choriocarcinoma

Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole.


adult central nervous system embryonal carcinoma

A embryonal carcinoma of the central nervous system that occurs in an adult.


polyembryoma of the ovary

A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos.


testicular embryonal carcinoma

A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.


testicular yolk sac tumor, solid pattern

A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli.


childhood ovarian yolk sac tumor

A yolk sac tumor that arises from the ovary and occurs in children.


pineal region choriocarcinoma

A choriocarcinoma (disease) that involves the pineal body.


central nervous system immature teratoma

A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO)


ovarian yolk sac tumor

A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular.


mediastinal malignant germ cell tumor

An extragonadal malignant germ cell tumor that arises from the mediastinum. This category includes seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, mixed germ cell tumors, and immature malignant teratoma.


adult central nervous system teratoma

A mature or immature teratoma affecting the central nervous system and occurring in adults.


gestational ovarian choriocarcinoma

A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present.


choriocarcinoma of the central nervous system

A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO)


mediastinal yolk sac tumor

An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome.


yolk sac tumor

A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum.


pineal region dysgerminoma

A dysgerminoma (disease) that involves the pineal body.


malignant cardiac germ cell tumor

A rare malignant germ cell tumor that arises from the pericardium.


malignant teratoma of mediastinum

A malignant teratoma that involves the mediastinum.


mediastinal germ cell tumor

A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor.


polyvesicular vitelline pattern testicular yolk sac tumor

A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue.


yolk sac tumor of central nervous system

A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO)


childhood central nervous system embryonal carcinoma

An embryonal carcinoma that arises from the central nervous system and occurs during childhood.


immature extragonadal teratoma

An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary.


pineal region germinoma

A germinoma that arises from the pineal gland.


extragonadal non-dysgerminomatous germ cell tumor


embryonal carcinoma

A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).


adult yolk sac tumor

A yolk sac tumor that occurs in an adult.


reticular pattern testicular yolk sac tumor

A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance.


childhood embryonal testis carcinoma

An embryonal carcinoma that arises from the testis during childhood.


testicular yolk sac tumor, myxomatous pattern

A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli.


ovarian yolk sac tumor, glandular pattern

A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures.


spinal cord dermoid cyst

A dermoid cyst that involves the spinal cord.


malignant peritoneal germ cell tumor

A malignant germ cell tumor that affects the peritoneum.


testicular yolk sac tumor, macrocystic pattern

A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces.


testicular yolk sac tumor, endodermal sinus pattern

A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli.


central nervous system germinoma

A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)


malignant pineal area germ cell neoplasm

A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor.


testicular yolk sac tumor

A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation.


mediastinum seminoma

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

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.


ovarian yolk sac tumor, hepatoid pattern

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


extragonadal teratoma

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.


childhood central nervous system immature teratoma

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


central nervous system nongerminomatous germ cell tumor

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


enteric pattern testicular yolk sac tumor

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


childhood central nervous system mature teratoma

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


ovarian yolk sac tumor, polyvesicular vitelline pattern

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.


childhood central nervous system germ cell tumor

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


childhood ovarian embryonal carcinoma

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


intratubular embryonal carcinoma

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.)


cardiac germ cell tumor

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


childhood central nervous system germinoma

A germinoma arising from the central nervous system during childhood.


adult central nervous system mixed germ cell tumor

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


childhood endodermal sinus tumor

A yolk sac tumor that occurs during childhood.


extragonadal germ cell cancer

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


adult central nervous system mature teratoma

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


primary germ cell tumor of central nervous system


pediatric CNS choriocarcinoma

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


non-central nervous system-localized embryonal carcinoma


embryonal carcinoma of the central nervous system

A embryonal carcinoma that involves the central nervous system.


ovarian embryonal carcinoma

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


extragonadal nonseminomatous germ cell tumor

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


testicular yolk sac tumor, papillary pattern

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

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


pineal region teratoma

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


mixed extragonadal germ cell cancer

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


testicular yolk sac tumor, glandular-alveolar pattern

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


childhood central nervous system mixed germ cell tumor

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


mixed germ cell tumor of central nervous system

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


testicular yolk sac tumor, hepatoid pattern

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


childhood brain germinoma

A germinoma arising from the brain during childhood.


vaginal yolk sac tumor

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


childhood germ cell brain tumor

A germ cell tumor arising from brain during childhood.


central nervous system endodermal sinus tumor

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


pineal region yolk sac tumor

A yolk sac tumor that involves the pineal body.


central nervous system teratoma

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


Stage IVA Vaginal Cancer AJCC v8

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

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


nicotinamide riboside catabolic process

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.


positive regulation of bipolar cell growth

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


positive regulation of chondrocyte hypertrophy

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


positive regulation of root hair elongation

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


positive regulation of monopolar cell growth

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

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


positive regulation of direction of cell growth

Any process that increases the direction of cell growth.


positive regulation of unidimensional cell growth

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

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


nitronate monooxygenase activity

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


negative regulation of infection cushion formation

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.


idiopathic multidrug-resistant nephrotic syndrome


cerebral arteriopathy with subcortical infarcts and leukoencephalopathy


ABeta amyloidosis, dutch type

Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.


ABeta amyloidosis, Iowa type

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages.


ABetaL34V amyloidosis

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.


ABetaA21G amyloidosis

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients.


ABeta amyloidosis, Italian type

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.


ABeta amyloidosis, Arctic type

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.


cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.


ADan amyloidosis

A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.


ABri amyloidosis

A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.


ACys amyloidosis

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.


cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.


cerebral amyloid angiopathy, APP-related

A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.


CARASIL syndrome

CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.


daunorubicin biosynthetic process

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


daunorubicin catabolic process

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


Refractory Diffuse Intrinsic Pontine Glioma

Diffuse intrinsic pontine glioma that is resistant to treatment.


Recurrent Diffuse Intrinsic Pontine Glioma

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


motor nucleus of trigeminal nerve

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

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).


principal sensory nucleus of trigeminal nerve

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

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].


mesencephalic nucleus of trigeminal nerve

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).


uterine corpus atypical polypoid adenomyoma

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

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.


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

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.


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

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.


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

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.


negative regulation of natural killer cell proliferation involved in immune response

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


regulation of natural killer cell proliferation involved in immune response

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


positive regulation of natural killer cell proliferation involved in immune response

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

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.


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

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


positive regulation of rDNA heterochromatin formation

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


positive regulation of heterochromatin formation

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


positive regulation of silent mating-type cassette heterochromatin formation

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


positive regulation of DNA methylation-dependent heterochromatin formation

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


positive regulation of pericentric heterochromatin formation

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


Childhood TdT Negative Acute Lymphoblastic Leukemia

TdT negative acute lymphoblastic leukemia that occurs during childhood.


TdT Negative Acute Lymphoblastic Leukemia


Adult TdT Negative Acute Lymphoblastic Leukemia

TdT negative acute lymphoblastic leukemia that occurs during adulthood.


primary ciliary dyskinesia 16

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


metanephric extraglomerular mesangial cell proliferation involved in metanephros development

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

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


intermediate-density lipoprotein particle clearance

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

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.


Endometrioid Tumor, Variant with Squamous Differentiation

An endometrioid tumor exhibiting squamous differentiation.


Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

An endometrioid adenocarcinoma exhibiting squamous differentiation.


Low Complement

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

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.


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


methanogenesis, from methanol

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


miltiradiene biosynthetic process

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


carotene biosynthetic process

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


methane biosynthetic process from methylamine

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


anaerobic toluene biosynthetic process

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

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.


methane biosynthetic process from trimethylamine

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


methanogenesis

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

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


heptadec-1-ene biosynthetic process

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


lycopene biosynthetic process

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


olefin biosynthetic process

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


alpha-copaene biosynthetic process

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


methane biosynthetic process from methanethiol

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


octadecene biosynthetic process

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


sesquiterpene biosynthetic process

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

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


methane biosynthetic process from methanol and hydrogen

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


pentadec-1-ene biosynthetic process

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


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

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

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


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


alpha-zeacarotene biosynthetic process

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


methane biosynthetic process from dimethylamine

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


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


beta-carotene biosynthetic process

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


methane biosynthetic process from carbon monoxide

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


methanogenesis, from carbon dioxide

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

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


methane biosynthetic process from formic acid

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


alkene biosynthetic process

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

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


beta-caryophyllene biosynthetic process

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


limonene biosynthetic process

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


nonadec-1-ene biosynthetic process

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


ent-kaurene biosynthetic process

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

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


bicyclogermacrene biosynthetic process

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


diterpene phytoalexin precursor biosynthetic process pathway

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

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


phytoene biosynthetic process

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


methane biosynthetic process from dimethyl sulfide

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


toluene biosynthetic process

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


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


ethylene biosynthetic process

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

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


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


methane biosynthetic process from 3-(methylthio)propionic acid

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


1-undecene biosynthetic process

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


culmorin biosynthetic process

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

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

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


periodic partitioning by pair rule gene

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


penile bulb artery

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

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


Benign Cardiac Germ Cell Tumor

A non-metastasizing germ cell tumor that arises within the myocardium or cardiac chambers.


Malignant Pancreatic Insulinoma

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.


otospondylomegaepiphyseal dysplasia, autosomal dominant

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.


otospondylomegaepiphyseal dysplasia, autosomal recessive


fibrochondrogenesis 1

Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.


Stickler syndrome type 2

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).


Marshall syndrome

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.


TERT Deficiency

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

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


gonadal teratoma

A teratoma that arises from the testis or ovary.


mature ovarian teratoma

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

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


Childhood Testicular Immature Teratoma

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


Ovarian Dermoid Cyst with Adenocarcinoma

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


Stage I Ovarian Teratoma AJCC v6 and v7

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.)


Ovarian Dermoid Cyst with Leiomyosarcoma

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


childhood immature teratoma of ovary

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


Stage IV Ovarian Teratoma AJCC v6 and v7

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


Testicular Teratoma with Somatic-Type Malignancy

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


struma ovarii

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).


Ovarian Dermoid Cyst with Somatic-Type Malignancy

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

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.


Ovarian Dermoid Cyst with Secondary Carcinoma

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


Ovarian Dermoid Cyst with Secondary Sebaceous Tumor

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


Ovarian Teratoma with Carcinoid Tumor

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


Strumal carcinoid

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.


Stage I Immature Testicular Teratoma AJCC v6 and v7

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.)


Ovarian Dermoid Cyst with Secondary Tumor

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.


Ovarian Dermoid Cyst with Secondary Sarcoma

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

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.


Stage III Immature Testicular Teratoma AJCC v6 and v7

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

A teratoma that arises from the testis during childhood.


ovarian monodermal teratoma

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


Stage III Ovarian Teratoma AJCC v6 and v7

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.)


Ovarian Dermoid Cyst with Corticotropin Secreting Adenoma

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

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


Ovarian Dermoid Cyst with Secondary Pituitary-Type Tumor

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

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

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

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


Ovarian Dermoid Cyst with Squamous Cell Carcinoma

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


childhood teratoma of the ovary

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


Ovarian Dermoid Cyst with Sebaceous Carcinoma

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


Stage II Immature Testicular Teratoma AJCC v6 and v7

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

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


Ovarian Dermoid Cyst with Melanocytic Nevus

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


Ovarian Dermoid Cyst with Sebaceous Adenoma

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


childhood mature teratoma of the ovary

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


Ovarian Dermoid Cyst with Secondary Melanocytic Lesion

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


Mature Testicular Teratoma

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


Stage II Ovarian Teratoma AJCC v6 and v7

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.)


Ovarian Dermoid Cyst with Prolactin Secreting Adenoma

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

A malignant teratoma that involves the testis.


Childhood Testicular Mature Teratoma

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


ovarian monodermal and highly specialized teratoma

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

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


SAS acetyltransferase complex

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

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.


postsynaptic spectrin-associated cytoskeleton organization

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

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.


postsynaptic actin cytoskeleton organization

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.


postsynaptic intermediate filament cytoskeleton organization

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

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


dilated cardiomyopathy 1DD

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


dilated cardiomyopathy 1CC

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


46,XY sex reversal 4

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


Chagas cardiomyopathy

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.


Beckwith-Wiedemann syndrome due to CDKN1C mutation


dilated cardiomyopathy 1J

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.


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


viral dilated cardiomyopathy

An dilated cardiomyopathy caused by infection with Viruses.


familial isolated arrhythmogenic ventricular dysplasia, right dominant form


DPM3-congenital disorder of glycosylation

DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.


dilated cardiomyopathy 1AA

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


LEOPARD syndrome 2

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


cardiomyopathy, familial hypertrophic, 28


left ventricular noncompaction 8

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


cardiofaciocutaneous syndrome 3

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


Noonan syndrome 1

Noonan syndrome caused by mutations in the PTPN11 gene.


DK1-congenital disorder of glycosylation

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

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


autosomal recessive limb-girdle muscular dystrophy type 2D

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.


Emery-Dreifuss muscular dystrophy 2, autosomal dominant

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


multiple acyl-CoA dehydrogenase deficiency

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.


familial isolated arrhythmogenic ventricular dysplasia, biventricular form


arrhythmogenic right ventricular dysplasia 6

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


Noonan syndrome 11

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


Costello syndrome

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

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

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

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


Noonan syndrome 5

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


dilated cardiomyopathy 1U

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


myotonic dystrophy type 1

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.


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.


arrhythmogenic right ventricular dysplasia 13

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


cardiomyopathy, dilated, 2c

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

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


dilated cardiomyopathy 1X

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


arrhythmogenic right ventricular dysplasia 11

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


arrhythmogenic right ventricular dysplasia 8

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


Noonan syndrome 7

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


dilated cardiomyopathy 1C

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


dilated cardiomyopathy 1M

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


arrhythmogenic right ventricular dysplasia 5

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


bacterial myocarditis

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


cardiac sarcoidosis

Sarcoidosis affecting the tissues of the heart.


dilated cardiomyopathy 1H

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


Loeffler endocarditis

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

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


dilated cardiomyopathy 1R

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


alcoholic cardiomyopathy

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


fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency


arrhythmogenic right ventricular dysplasia 3

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


intrinsic cardiomyopathy

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


hypertrophic cardiomyopathy 26

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


very long chain acyl-CoA dehydrogenase deficiency

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

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.


Beckwith-Wiedemann syndrome due to imprinting defect of 11p15


Beckwith-Wiedemann syndrome due to 11p15 microduplication


giant cell myocarditis

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

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


hypertrophic cardiomyopathy 10

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


noonan syndrome 12

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


glycogen storage disease due to acid maltase deficiency, infantile onset

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

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.


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

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


familial isolated restrictive cardiomyopathy

Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.


LEOPARD syndrome 1

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

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.


cardiomyopathy, dilated, 1MM

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


Becker muscular dystrophy

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


autosomal recessive Emery-Dreifuss muscular dystrophy

Autosomal recessive form of Emery-Dreifuss muscular dystrophy.


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

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


dilated cardiomyopathy 1EE

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


hypertrophic cardiomyopathy 13

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


myofibrillar myopathy 1

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

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


Duchenne and Becker muscular dystrophy

Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.


dilated cardiomyopathy 1KK

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


Noonan syndrome 4

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


cardiomyopathy, dilated, 2F

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

An myocarditis caused by infection with Corynebacterium diphtheriae.


hypertrophic cardiomyopathy 15

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


congenital myopathy 7A, myosin storage, autosomal dominant


arrhythmogenic right ventricular dysplasia 12

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


hypertrophic cardiomyopathy 18

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


Emery-Dreifuss muscular dystrophy 7, autosomal dominant

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


atrial standstill 2

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


long chain acyl-CoA dehydrogenase deficiency

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.


cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies


hypertrophic cardiomyopathy 7

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


glutaric acidemia IIc

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


dilated cardiomyopathy 1NN

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


peripartum cardiomyopathy

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.


familial isolated dilated cardiomyopathy

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.


cardiofaciocutaneous syndrome 1

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


left ventricular noncompaction 1

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


Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion


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

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


dilated cardiomyopathy 2A

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


Emery-Dreifuss muscular dystrophy 5, autosomal dominant

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


familial cardiomyopathy

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


glutaric acidemia IIb

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


dilated cardiomyopathy 1S

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


dilated cardiomyopathy 1GG

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


primary localized amyloidosis

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

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


Noonan syndrome 6

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


hypertrophic cardiomyopathy 19

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


dilated cardiomyopathy 1D

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


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

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


dilated cardiomyopathy 1P

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


hypertrophic cardiomyopathy 21

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


Noonan syndrome 13

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


non-compaction cardiomyopathy

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.


arrhythmogenic right ventricular dysplasia, familial, 14


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

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


LEOPARD syndrome 3

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


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


hypertrophic cardiomyopathy 12

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


progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

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

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


hypertrophic cardiomyopathy 16

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


dilated cardiomyopathy 1FF

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


dilated cardiomyopathy 1Z

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


arrhythmogenic right ventricular dysplasia 9

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


Noonan syndrome with multiple lentigines

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


Noonan syndrome

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


X-linked Emery-Dreifuss muscular dystrophy

X-linked form of Emery-Dreifuss muscular dystrophy.


episodic angioedema with eosinophilia

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

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


cardiomyopathy, familial restrictive, 1

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


dilated cardiomyopathy 1BB

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


familial restrictive cardiomyopathy

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


familial dilated cardiomyopathy

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

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


Noonan syndrome 9

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


multiple acyl-CoA dehydrogenase deficiency, severe neonatal type


hypertrophic cardiomyopathy 8

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


ATTRV122I amyloidosis

Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.


extrinsic cardiomyopathy

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


cardiomyopathy, familial restrictive, 3

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


dilated cardiomyopathy 3B

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


rheumatic myocarditis

Inflammation of the myocardium in acute rheumatic heart disease.


Keshan disease

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


Noonan syndrome 10

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


cardiofaciocutaneous syndrome

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

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


autosomal dominant Emery-Dreifuss muscular dystrophy

Autosomal dominant form of Emery-Dreifuss muscular dystrophy.


arrhythmogenic right ventricular dysplasia 1

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


Noonan syndrome-like disorder with loose anagen hair 1

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

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


PGM1-congenital disorder of glycosylation


primary systemic amyloidosis

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

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


eosinophilia-myalgia syndrome

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)


46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome


Beckwith-Wiedemann syndrome due to NSD1 mutation


Emery-Dreifuss muscular dystrophy 6, X-linked


hypereosinophilia of undetermined significance

Long-lasting, unexplained and asymptomatic blood hypereosinophilia.


Beckwith-Wiedemann syndrome due to 11p15 microdeletion


glutaric acidemia IIa

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


Noonan syndrome-like disorder with loose anagen hair 2

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

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


disseminated eosinophilic collagen disease


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

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

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


arrhythmogenic right ventricular dysplasia 10

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


dilated cardiomyopathy 1O

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


arrhythmogenic right ventricular cardiomyopathy

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

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.


Noonan syndrome and Noonan-related syndrome


hypertrophic cardiomyopathy 20

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


dilated cardiomyopathy 1V

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


dilated cardiomyopathy 1B

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


Barth syndrome

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

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


cardiofaciocutaneous syndrome 2

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


long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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

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


dilated cardiomyopathy 1W

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


acute myocarditis

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.