name: Stage IA Lung Large Cell Carcinoma AJCC v7

description: 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.)


name: Stage IB Lung Large Cell Carcinoma AJCC v7

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

description: 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.)


Large cell lung cancer stage I

description: Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less n 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 metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Stage IIB Lung Large Cell Carcinoma AJCC v7

description: 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.)


name: Stage 0 Lung Large Cell Carcinoma AJCC v6 and v7

description: 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.)


Large cell lung cancer stage IV

description: Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b).  M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion.  M1b: Distant metastasis. (AJCC 7th ed.)


name: Stage IIIB Lung Large Cell Carcinoma AJCC v7

description: 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.)


name: beta-hexosaminidase subunit alpha isoform h1 (human)

description: A beta-hexosaminidase subunit alpha (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P06865-1.


name: Stage IV AIDS-Related Anal Canal Cancer AJCC v6 and v7

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


AIDS-Related Anal Canal Carcinoma

description: A carcinoma arising from the anal canal and occurring in HIV-positive patients.


name: Stage III AIDS-Related Anal Canal Cancer AJCC v6 and v7

description: Stage III includes: IIIA (T1, N1, M0); (T2, N1, M0); (T3, N1, M0); (T4, N0, M0); IIIB (T4, N1, M0); (Any T, N2, M0); (Any T, N3, M0).  T1: Tumor 2 cm or less in greatest dimension.  T2: tumor more than 2 cm but not more than 5 cm in greatest dimension.  T3: Tumor more than 5 cm in greatest dimension.  T4: Tumor of any size that invades adjacent organ(s).  N1: Metastasis in perirectal lymph node(s).  N0: No regional lymph node metastasis.  N2: Metastasis in unilateral internal iliac and/or inguinal lymph node(s).  N3: Metastasis in perirectal and inguinal lymph nodes and/or bilateral internal iliac and/or inguinal lymph nodes. M0: No distant metastasis. (AJCC 6th and 7th Eds.)


AIDS-related anal cancer recurrent

description: The reemergence of anal canal carcinoma in HIV-positive patients after a period of remission.


name: Stage 0 AIDS-Related Anal Canal Cancer AJCC v6 and v7

description: 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.)


name: Stage II AIDS-Related Anal Canal Cancer AJCC v6 and v7

description: Stage II includes: (T2, N0, M0); (T3,N0, M0).  T2: Tumor more than 2 cm but not more than 5 cm in greatest dimension.  T3: Tumor more than 5 cm in greatest dimension. N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


name: Stage I AIDS-Related Anal Canal Cancer AJCC v6 and v7

description: Stage I includes: T1, N0, M0.  T1: Tumor 2 cm or less in greatest dimension.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th Eds.)


name: transient receptor potential cation channel subfamily M member 4 isoform h3 (human)

description: A transient receptor potential cation channel subfamily M member 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8TD43-3.


Refractory Small Intestinal Carcinoma

description: Small intestinal carcinoma that is resistant to treatment.


kallikrein-1 N-glycosylated 4 (human)

A kallikrein-1 (human) that has been N-glycosylated at the residue equivalent to Asn-102 of the amino acid sequence represented by UniProtKB:P06870-1, in which the glycan structure is represented by GlyTouCan:G23484GM. Example: UniProtKB:P06870-1, Asn-102, MOD:00160~GNO:G23484GM.


degenerative myopia

description: Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness.


galectin-8 isoform h1 (human)

A galectin-8 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00214-1.


Grade 1 Bladder Perforation, CTCAE

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


fibrochondrogenesis 2

description: Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.


Advanced Kidney Carcinoma

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


name: Advanced Renal Pelvis Urothelial Carcinoma

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


Advanced Kidney Medullary Carcinoma

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


Advanced Renal Pelvis Carcinoma

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


dehydrated hereditary stomatocytosis 2

description: Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.


name: electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform h1 (human)

description: An electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UJS0-1.


Abdominal Migraine

description: Paroxysmal episodes of intense, acute periumbilical pain that lasts for one or more hours with intervening periods of usual health lasting weeks to months, with no evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explains the symptoms. The pain interferes with normal activities and is associated with at least two of the following symptoms: anorexia, nausea, vomiting, headache, photophobia, and/or pallor.


name: leukoencephalopathy with mild cerebellar ataxia and white matter edema

description: An autosomal recessive condition caused by mutation(s) in the CLCN2 gene, encoding chloride channel protein 2. It is characterized by variable clinical features including mild cerebellar ataxia, chorioretinopathy, visual field defects, and headaches. A characteristic pattern of white matter abnormalities is evident on MRI.


name: aryl hydrocarbon receptor cysteinylated 2 (human)

description: An aryl hydrocarbon receptor (human) that has been cysteinylated on the residue at the position equivalent to Cys-741 of the amino acid sequence represented by UniProtKB:P35869. UniProtKB:P35869, Cys-741, MOD:00765.


name: aryl hydrocarbon receptor methylated 2 (human)

description: An aryl hydrocarbon receptor (human) that has been methylated on the residue at the position equivalent to Cys-101 of the amino acid sequence represented by UniProtKB:P35869. UniProtKB:P35869, Cys-101, MOD:00660.


name: aryl hydrocarbon receptor methylated 1 (human)

description: An aryl hydrocarbon receptor (human) that has been methylated on the residue at the position equivalent to Cys-764 of the amino acid sequence represented by UniProtKB:P35869. UniProtKB:P35869, Cys-764, MOD:00660.


name: aryl hydrocarbon receptor cysteinylated 1 (human)

description: An aryl hydrocarbon receptor (human) that has been cysteinylated on the residue at the position equivalent to Cys-764 of the amino acid sequence represented by UniProtKB:P35869. UniProtKB:P35869, Cys-764, MOD:00765.


name: fibroblast growth factor receptor 2 isoform h12, signal peptide removed form (human)

description: A fibroblast growth factor receptor 2 isoform h12 (human) that has had the signal peptide removed. UniProtKB:P21802-18, 22-820.


name: Grade 4 Upper Airway Infection NOS with Unknown Absolute Neutrophil Count, CTCAE


all-trans-retinal

A retinal in which all four exocyclic double bonds have E- (trans-) geometry.


serine/threonine-protein kinase SBK1

A protein that is a translation product of the human SBK1 gene or a 1:1 ortholog thereof.


name: NEDD8-activating enzyme E1 regulatory subunit isoform h4 (human)

description: A NEDD8-activating enzyme E1 regulatory subunit (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13564-4.


tyrosinemia type II

description: Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.


tyrosinemia

description: An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.


tyrosinemia type III

description: Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.


transient tyrosinemia of the newborn

description: A benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.


name: inositol monophosphatase 1 isoform h2 (human)

description: An inositol monophosphatase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29218-2.


inositol monophosphatase 1

A protein that is a translation product of the human IMPA1 gene or a 1:1 ortholog thereof.


name: inositol monophosphatase 1 isoform h3 (human)

description: An inositol monophosphatase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29218-3.


name: inositol monophosphatase 1 isoform h1 (human)

description: An inositol monophosphatase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29218-1.


name: Stage IIA Adult Soft Tissue Sarcoma AJCC v7


Stage IIA Soft Tissue Sarcoma AJCC v7

description: Stage IIA includes: (T1a, N0, M0, G2, G3); (T1b, N0, M0, G2, G3).  T1a: Superficial tumor 5 cm or less in greatest dimension.  T1b: Deep tumor 5 cm or less in greatest dimension.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  G2: Grade 2.  G3: Grade 3. (AJCC 7th ed.)


name: microsomal triglyceride transfer protein large subunit cysteinylated 1 (human)

description: A microsomal triglyceride transfer protein large subunit (human) that has been cysteinylated on the residue at the position equivalent to Cys-827 of the amino acid sequence represented by UniProtKB:P55157-1. Example: UniProtKB:P55157-1, Cys-827, MOD:00765.


name: microsomal triglyceride transfer protein large subunit deaminated 1 (human)

description: A microsomal triglyceride transfer protein large subunit (human) that has been deaminated on the residue at the position equivalent to Asn-559 of the amino acid sequence represented by UniProtKB:P55157-1. Example: UniProtKB:P55157-1, Asn-559, MOD:00684.


name: microsomal triglyceride transfer protein large subunit isoform h2 (human)

description: A microsomal triglyceride transfer protein large subunit (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55157-2.


name: microsomal triglyceride transfer protein large subunit, signal peptide removed form (human)

description: A microsomal triglyceride transfer protein large subunit (human) that has had the signal peptide removed. UniProtKB:P55157, 19-894.


name: microsomal triglyceride transfer protein large subunit isoform h1 (human)

description: A microsomal triglyceride transfer protein large subunit (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55157-1.


Medulloblastoma, SHH-2

description: Medulloblastoma, SHH-activated, characterized by chromosome 9q loss and nodular morphology. It affects mostly infants.


Grade 1 Neonatal Bradyarrhythmia, AE

description: An adverse event in a newborn characterized by brief, self-limiting, episodes of asymptomatic bradyarrhythmia; no care changes.


name: synaptosomal-associated protein 25 isoform 1 (human)

description: A synaptosomal-associated protein 25 isoform 1 that is encoded in the genome of human.


name: protein kinase C beta type isoform Beta-II (rat)

description: A protein kinase C beta type (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P68403-2.


Charcot-Marie-Tooth disease type 2A1

description: Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.


Sarcoma NCI Grade 3

description: A sarcoma with more than 15% necrosis.


Kaposi Sarcoma NCI Grade 3

description: A Kaposi sarcoma with more than 15% necrosis.


Epithelioid Sarcoma NCI Grade 3

description: An epithelioid sarcoma with more than 15% necrosis.


Angiosarcoma NCI Grade 3

description: An angiosarcoma with more than 15% necrosis.


Leiomyosarcoma NCI Grade 3

description: A leiomyosarcoma with more than 15% necrosis.


name: digestive duplication cyst of the tongue

description: Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus.


Adenosquamous cell lung cancer stage II

description: Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (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.  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.  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.)


name: Lung Adenosquamous Carcinoma by AJCC v7 Stage

description: A term that refers to the staging of adenosquamous lung carcinoma, following the rules of the TNM AJCC v7 classification system.


name: Adenosquamous cell lung cancer stage III

description: Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (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.  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.  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.)


Adenosquamous cell lung cancer stage I

description: Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less n 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 metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Adenosquamous cell lung cancer stage IV

description: Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b).  M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion.  M1b: Distant metastasis. (AJCC 7th ed.)


name: Stage IA Lung Adenosquamous Carcinoma AJCC v7

description: 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.)


name: Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7

description: 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.)


name: Stage IIB Lung Adenosquamous Carcinoma AJCC v7

description: 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.)


name: Stage IIA Lung Adenosquamous Carcinoma AJCC v7

description: 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.)


name: Adenosquamous cell lung cancer stage IIIB

description: 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.)


name: Stage IB Lung Adenosquamous Carcinoma AJCC v7

description: 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.)


name: Adenosquamous cell lung cancer stage IIIA

description: 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.)


cyclin-A2 deaminated 2 (human)

A cyclin-A2 (human) that has been deaminated on the residue at the position equivalent to Gln-317 of the amino acid sequence represented by UniProtKB:P20248. UniProtKB:P20248, Gln-317, MOD:00685.


cyclin-A2 methylated 2 (human)

A cyclin-A2 (human) that has been methylated on the residue at the position equivalent to Cys-327 of the amino acid sequence represented by UniProtKB:P20248. UniProtKB:P20248, Cys-327, MOD:00660.


cyclin-A2 cysteinylated 2 (human)

A cyclin-A2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-327 of the amino acid sequence represented by UniProtKB:P20248. UniProtKB:P20248, Cys-327, MOD:00765.


cyclin-A2 phosphorylated 1 (human)

A cyclin-A2 (human) that has been phosphorylated on the residue at the position equivalent to Ser-55 of the amino acid sequence represented by UniProtKB:P20248. UniProtKB:P20248, Ser-55, MOD:00046.


cyclin-A2 cysteinylated 3 (human)

A cyclin-A2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-390 of the amino acid sequence represented by UniProtKB:P20248. UniProtKB:P20248, Cys-390, MOD:00765.


cyclin-A2 cysteinylated 1 (human)

A cyclin-A2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-193 of the amino acid sequence represented by UniProtKB:P20248. UniProtKB:P20248, Cys-193, MOD:00765.


cyclin-A2 ubiquitinated form (human)

A cyclin-A2 (human) that includes at least one ubiquitinated lysine. UniProtKB:P20248, MOD:01148.


cyclin-A2 methylated 1 (human)

A cyclin-A2 (human) that has been methylated on the residue at the position equivalent to Cys-193 of the amino acid sequence represented by UniProtKB:P20248. UniProtKB:P20248, Cys-193, MOD:00660.


cyclin-A2 deaminated 1 (human)

A cyclin-A2 (human) that has been deaminated on the residue at the position equivalent to Asn-34 of the amino acid sequence represented by UniProtKB:P20248. UniProtKB:P20248, Asn-34, MOD:00684.


lethal osteosclerotic bone dysplasia

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


Conjunctival Subepithelial Nevus

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


Grade 4 Meningitis, CTCAE

description: Life-threatening consequences; urgent intervention indicated


name: transitional endoplasmic reticulum ATPase methylated 1 (human)

description: A transitional endoplasmic reticulum ATPase (human) that has been methylated on the residue at the position equivalent to Cys-415 of the amino acid sequence represented by UniProtKB:P55072. UniProtKB:P55072, Cys-415, MOD:00660.


Bethlem myopathy

description: 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

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


name: isolated focal cortical dysplasia type Ib


name: isolated focal cortical dysplasia type I


name: isolated focal cortical dysplasia type Ia


name: isolated focal cortical dysplasia type Ic


episodic kinesigenic dyskinesia

description: 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.


name: childhood onset GLUT1 deficiency syndrome 2

description: A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.


episodic kinesigenic dyskinesia 1

description: 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.


name: infantile convulsions and choreoathetosis

description: A neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.


paroxysmal nonkinesigenic dyskinesia 1

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


episodic kinesigenic dyskinesia 2

description: 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

description: 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

description: 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.


name: benign paroxysmal torticollis of infancy

description: 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

description: 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

description: 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.


name: glutamate receptor 4 N-glycosylated 6 (rat)

description: A glutamate receptor 4 (rat) that has been N-glycosylated at the residue equivalent to Asn-258 of the amino acid sequence represented by UniProtKB:P19493-1, in which the glycan structure is represented by GlyTouCan:G60230HH. Example: UniProtKB:P19493-1, Asn-258, MOD:00160~GNO:G60230HH.


Cervical Rhabdomyoma

description: 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

description: A rare benign mesenchymal neoplasm that arises from the cervix.


Cervical Leiomyoma

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


name: Grade 2 Upper Extremity Artery Injury, CTCAE


name: Metastatic Prostate Neuroendocrine Carcinoma

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


name: Metastatic Prostate Small Cell Neuroendocrine Carcinoma

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


name: Advanced Prostate Small Cell Neuroendocrine Carcinoma

description: Prostate small cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Locally Advanced Prostate Neuroendocrine Carcinoma

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


Pesticide Exposure

description: Environmental, occupational, or consumer-based exposure to pesticides.


name: pyruvate kinase PKLR isoform R-type (human)

description: A pyruvate kinase PKLR isoform R-type that is encoded in the genome of human.


central nervous system mature teratoma

description: 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

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


name: adult central nervous system germ cell tumor

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


name: adult central nervous system immature teratoma


brain germinoma

description: A germinoma (disease) that involves the brain.


central nervous system germ cell tumor

description: 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

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


gestational choriocarcinoma

description: 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.


name: adult central nervous system embryonal carcinoma

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


polyembryoma of the ovary

description: 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

description: 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.


name: testicular yolk sac tumor, solid pattern

description: 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

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


pineal region choriocarcinoma

description: A choriocarcinoma (disease) that involves the pineal body.


name: central nervous system immature teratoma

description: 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

description: 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

description: 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

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


gestational ovarian choriocarcinoma

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


name: choriocarcinoma of the central nervous system

description: 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

description: 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

description: 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

description: A dysgerminoma (disease) that involves the pineal body.


malignant cardiac germ cell tumor

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


malignant teratoma of mediastinum

description: A malignant teratoma that involves the mediastinum.


mediastinal germ cell tumor

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


name: polyvesicular vitelline pattern testicular yolk sac tumor

description: 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.


name: yolk sac tumor of central nervous system

description: 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)


name: childhood central nervous system embryonal carcinoma

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


immature extragonadal teratoma

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


pineal region germinoma

description: A germinoma that arises from the pineal gland.


name: extragonadal non-dysgerminomatous germ cell tumor


embryonal carcinoma

description: 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

description: A yolk sac tumor that occurs in an adult.


name: reticular pattern testicular yolk sac tumor

description: 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

description: An embryonal carcinoma that arises from the testis during childhood.


name: testicular yolk sac tumor, myxomatous pattern

description: 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.


name: ovarian yolk sac tumor, glandular pattern

description: 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

description: A dermoid cyst that involves the spinal cord.


malignant peritoneal germ cell tumor

description: A malignant germ cell tumor that affects the peritoneum.


name: testicular yolk sac tumor, macrocystic pattern

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


name: testicular yolk sac tumor, endodermal sinus pattern

description: 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

description: 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)


name: malignant pineal area germ cell neoplasm

description: 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

description: 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

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


polyembryoma

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


name: ovarian yolk sac tumor, hepatoid pattern

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


extragonadal teratoma

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


name: childhood central nervous system immature teratoma

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


name: central nervous system nongerminomatous germ cell tumor

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


name: enteric pattern testicular yolk sac tumor

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


name: childhood central nervous system mature teratoma

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


name: ovarian yolk sac tumor, polyvesicular vitelline pattern

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


name: childhood central nervous system germ cell tumor

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


childhood ovarian embryonal carcinoma

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


intratubular embryonal carcinoma

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


pineal region mature teratoma

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


cardiac germ cell tumor

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


name: childhood central nervous system germinoma

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


name: adult central nervous system mixed germ cell tumor

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


childhood endodermal sinus tumor

description: A yolk sac tumor that occurs during childhood.


extragonadal germ cell cancer

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


name: adult central nervous system mature teratoma

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


uterine corpus choriocarcinoma

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


pediatric CNS choriocarcinoma

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


name: non-central nervous system-localized embryonal carcinoma


name: embryonal carcinoma of the central nervous system

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


ovarian embryonal carcinoma

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


name: extragonadal nonseminomatous germ cell tumor

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


name: testicular yolk sac tumor, papillary pattern

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


testis polyembryoma

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


pineal region teratoma

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


mixed extragonadal germ cell cancer

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


name: testicular yolk sac tumor, glandular-alveolar pattern

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


name: childhood central nervous system mixed germ cell tumor

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


name: mixed germ cell tumor of central nervous system

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


name: testicular yolk sac tumor, hepatoid pattern

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


childhood brain germinoma

description: A germinoma arising from the brain during childhood.


vaginal yolk sac tumor

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


childhood germ cell brain tumor

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


name: central nervous system endodermal sinus tumor

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


pineal region yolk sac tumor

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


central nervous system teratoma

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


Stage IVA Vaginal Cancer AJCC v8

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


name: Grade 5 Spermatic Cord Obstruction, CTCAE


name: Childhood Anaplastic Sarcoma of the Kidney

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


name: sonic hedgehog protein N-product dually lipidated 1 (mouse)

description: A sonic hedgehog protein N-product in mouse that has been further modified on the N-terminal Cys residue by palmitoylation and the C-terminal Gly residue by cholesterylation. UniProtKB:Q62226, 25-198, Cys-25, MOD:00069|Gly-198, MOD:00314.


name: sonic hedgehog protein N-product dually lipidated 1 (human)

description: A sonic hedgehog protein N-product in human that has been further modified on the N-terminal Cys residue by palmitoylation and the C-terminal Gly residue by cholesterylation. UniProtKB:Q15465, 24-197, Cys-24, MOD:00069|Gly-197, MOD:00314.


name: sonic hedgehog protein, signal peptide removed form (mouse)

description: A sonic hedgehog protein, signal peptide removed form in mouse. UniProtKB:Q62226, 25-437.


name: idiopathic multidrug-resistant nephrotic syndrome


name: sodium/potassium-transporting ATPase subunit beta-2 isoform 1 (human)

description: A sodium/potassium-transporting ATPase subunit beta-2 isoform 1 that is encoded in the genome of human.


name: Refractory Diffuse Intrinsic Pontine Glioma

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


name: Childhood Diffuse Intrinsic Pontine Glioma

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


Adult Diffuse Intrinsic Pontine Glioma

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


name: Recurrent Diffuse Intrinsic Pontine Glioma

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


name: uterine corpus atypical polypoid adenomyoma

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


adenomyoma of uterine corpus

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


name: platelet-derived growth factor receptor alpha sequence variant D846V, signal peptide removed phosphorylated 1 (human)

description: A platelet-derived growth factor receptor alpha (human) that has a Val residue at the position equivalent to Asp-846 of the amino acid sequence represented by UniProtKB:P16234-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-572, Tyr-574, Tyr-720, Tyr-731, Tyr-742, Tyr-754, Tyr-762, Tyr-768, Tyr-849, Tyr-988, and Tyr-1018. Example: UniProtKB:P16234-1, 24-1089, Tyr-572/Tyr-574/Tyr-720/Tyr-731/Tyr-742/Tyr-754/Tyr-762/Tyr-768/Tyr-849/Tyr-988/Tyr-1018, MOD:00048|Asp-846, CHEBI:30015.


name: 5'-AMP-activated protein kinase subunit gamma-1 isoform h2 (human)

description: A 5'-AMP-activated protein kinase subunit gamma-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P54619-2.


name: Childhood TdT Negative Acute Lymphoblastic Leukemia

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


name: TdT Negative Acute Lymphoblastic Leukemia


name: Adult TdT Negative Acute Lymphoblastic Leukemia

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


name: mast/stem cell growth factor receptor Kit sequence variant D419A, signal peptide removed phosphorylated 1 (human)

description: A mast/stem cell growth factor receptor Kit (human) that has an Ala residue at the position equivalent to Asp-419 of the amino acid sequence represented by UniProtKB:P10721-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-568, Tyr-570, Tyr-703, Tyr-721, Tyr-730, Tyr-823, and Tyr-936. Example: UniProtKB:P10721-1, 26-976, Asp-419, CHEBI:46217|Tyr-568/Tyr-570/Tyr-703/Tyr-721/Tyr-730/Tyr-823/Tyr-936, MOD:00048.


primary ciliary dyskinesia 16

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


name: BMP receptor type-2 sequence variant C118W (human)

description: A bone morphogenetic protein receptor type-2 (human) that has a Trp residue at the position equivalent to Cys-118 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Cys-118, CHEBI:29954.


name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 isoform h2 (human)

description: An NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O96000-2.


Borderline Breast Phyllodes Tumor

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


fatal familial insomnia

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


name: Endometrioid Tumor, Variant with Squamous Differentiation

description: An endometrioid tumor exhibiting squamous differentiation.


name: Endometrioid Adenocarcinoma, Variant with Squamous Differentiation

description: An endometrioid adenocarcinoma exhibiting squamous differentiation.


Low Complement

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


albumin methylated 6 (human)

An albumin (human) that has been methylated on the residue at the position equivalent to Cys-485 of the amino acid sequence represented by UniProtKB:P02768-1. Example: UniProtKB:P02768-1, Cys-485, MOD:00660.


name: Grade 3 Ear and Labyrinth Disorders - Other, Specify, CTCAE

description: Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL


name: aldo-keto reductase family 1 member C3 cysteinylated 1 (human)

description: An aldo-keto reductase family 1 member C3 (human) that has been cysteinylated on the residue at the position equivalent to Cys-145 of the amino acid sequence represented by UniProtKB:P42330-1. Example: UniProtKB:P42330-1, Cys-145, MOD:00765.


aldo-keto reductase family 1 member C3

A protein that is a translation product of the human AKR1C3 gene or a 1:1 ortholog thereof.


name: aldo-keto reductase family 1 member C3 isoform h2 (human)

description: An aldo-keto reductase family 1 member C3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42330-2.


name: aldo-keto reductase family 1 member C3 isoform h1 (human)

description: An aldo-keto reductase family 1 member C3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42330-1.


COVID-19-Associated Ageusia

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


name: fibroblast growth factor receptor 4 isoform 1 (mouse)

description: A fibroblast growth factor receptor 4 isoform 1 that is encoded in the genome of mouse.


name: fibroblast growth factor receptor 4 isoform 1 N-glycosylated and phosphotyrosine form (mouse)

description: A fibroblast growth factor receptor 4 isoform 1 N-glycosylated and phosphotyrosine form in mouse. UniProtKB:Q03142-1, MOD:00006|MOD:00048.


Benign Cardiac Germ Cell Tumor

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


Malignant Pancreatic Insulinoma

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


name: Toll-like receptor 7 deaminated 14 (human)

description: A Toll-like receptor 7 (human) that has been deaminated on the residue at the position equivalent to Asn-733 of the amino acid sequence represented by UniProtKB:Q9NYK1. UniProtKB:Q9NYK1, Asn-733, MOD:00684.


TERT Deficiency

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


Ovarian Dermoid Cyst with Melanoma

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


gonadal teratoma

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


mature ovarian teratoma

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


Grade 1 Ovarian Teratoma

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


Childhood Testicular Immature Teratoma

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


name: Ovarian Dermoid Cyst with Adenocarcinoma

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


Stage I Ovarian Teratoma AJCC v6 and v7

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


name: Ovarian Dermoid Cyst with Leiomyosarcoma

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


childhood immature teratoma of ovary

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


name: Stage IV Ovarian Teratoma AJCC v6 and v7

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


name: Testicular Teratoma with Somatic-Type Malignancy

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


struma ovarii

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


name: Ovarian Dermoid Cyst with Somatic-Type Malignancy

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


immature ovarian teratoma

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


name: Ovarian Dermoid Cyst with Secondary Carcinoma

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


name: Ovarian Dermoid Cyst with Secondary Sebaceous Tumor

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


Ovarian Teratoma with Carcinoid Tumor

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


Strumal carcinoid

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


name: Stage I Testicular Immature Teratoma AJCC v6 and v7

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


name: Ovarian Dermoid Cyst with Secondary Tumor

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


name: Ovarian Dermoid Cyst with Secondary Sarcoma

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


ovarian biphasic or triphasic teratoma

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


name: Stage III Testicular Immature Teratoma AJCC v6 and v7

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


Childhood Testicular Teratoma

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


ovarian monodermal teratoma

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


Testicular Teratoma, Prepubertal-Type

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


name: Stage III Ovarian Teratoma AJCC v6 and v7

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


name: Ovarian Dermoid Cyst with Corticotropin Secreting Adenoma

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


Malignant Ovarian Teratoma

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


name: Ovarian Dermoid Cyst with Secondary Pituitary-Type Tumor

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


Testicular Dermoid Cyst

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


Monodermal Testicular Teratoma

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


ovarian cystic teratoma

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


name: Ovarian Dermoid Cyst with Squamous Cell Carcinoma

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


childhood teratoma of the ovary

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


name: Ovarian Dermoid Cyst with Sebaceous Carcinoma

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


name: Stage II Testicular Immature Teratoma AJCC v6 and v7

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


ovarian fetiform teratoma

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


name: Ovarian Dermoid Cyst with Melanocytic Nevus

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


name: Ovarian Dermoid Cyst with Sebaceous Adenoma

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


childhood mature teratoma of the ovary

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


name: Ovarian Dermoid Cyst with Secondary Melanocytic Lesion

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


Testicular Mature Teratoma

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


name: Stage II Ovarian Teratoma AJCC v6 and v7

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


name: Ovarian Dermoid Cyst with Prolactin Secreting Adenoma

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


malignant teratoma of testis

description: A malignant teratoma that involves the testis.


Childhood Testicular Mature Teratoma

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


Testicular Teratoma, Postpubertal-Type

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


name: ovarian monodermal and highly specialized teratoma

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


Ovarian Dermoid Cyst with Angiosarcoma

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


name: G protein-activated inward rectifier potassium channel 4 isoform 1 (mouse)

description: A G protein-activated inward rectifier potassium channel 4 isoform 1 that is encoded in the genome of mouse.


left ventricular noncompaction 7

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


dilated cardiomyopathy 1DD

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


dilated cardiomyopathy 1CC

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


46,XY sex reversal 4

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


Chagas cardiomyopathy

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


name: Beckwith-Wiedemann syndrome due to CDKN1C mutation


dilated cardiomyopathy 1J

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


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


viral dilated cardiomyopathy

description: An dilated cardiomyopathy caused by infection with Viruses.


name: familial isolated arrhythmogenic ventricular dysplasia, right dominant form


dilated cardiomyopathy 1AA

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


LEOPARD syndrome 2

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


name: cardiomyopathy, familial hypertrophic, 28


left ventricular noncompaction 8

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


cardiofaciocutaneous syndrome 3

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


Noonan syndrome 1

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


name: DK1-congenital disorder of glycosylation

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


Noonan syndrome 8

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


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

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


name: Emery-Dreifuss muscular dystrophy 2, autosomal dominant

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


name: familial isolated arrhythmogenic ventricular dysplasia, biventricular form


name: arrhythmogenic right ventricular dysplasia 6

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


Noonan syndrome 11

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


Costello syndrome

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


Legius syndrome

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


hypertrophic cardiomyopathy 4

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


hypertrophic cardiomyopathy 14

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


Noonan syndrome 5

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


dilated cardiomyopathy 1U

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


myotonic dystrophy type 1

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


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


name: arrhythmogenic right ventricular dysplasia 13

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


cardiomyopathy, dilated, 2c

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


dilated cardiomyopathy 1L

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


dilated cardiomyopathy 1X

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


name: arrhythmogenic right ventricular dysplasia 11

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


name: arrhythmogenic right ventricular dysplasia 8

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


Noonan syndrome 7

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


dilated cardiomyopathy 1C

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


dilated cardiomyopathy 1M

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


name: arrhythmogenic right ventricular dysplasia 5

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


bacterial myocarditis

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


cardiac sarcoidosis

description: Sarcoidosis affecting the tissues of the heart.


dilated cardiomyopathy 1H

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


Loeffler endocarditis

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


atrial standstill 1

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


dilated cardiomyopathy 1R

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


alcoholic cardiomyopathy

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


name: arrhythmogenic right ventricular dysplasia 3

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


intrinsic cardiomyopathy

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


hypertrophic cardiomyopathy 26

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


name: very long chain acyl-CoA dehydrogenase deficiency

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


interstitial myocarditis

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


PRKAG2-related cardiomyopathy

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


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


name: Beckwith-Wiedemann syndrome due to 11p15 microduplication


giant cell myocarditis

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


dilated cardiomyopathy 1I

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


hypertrophic cardiomyopathy 10

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


noonan syndrome 12

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


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

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


Hurler syndrome

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


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

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


cardiomyopathy, dilated, 1MM

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


LEOPARD syndrome 1

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


cardiomyopathy, dilated, 2E

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


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


Emery-Dreifuss muscular dystrophy

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


dilated cardiomyopathy 1EE

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


hypertrophic cardiomyopathy 13

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


myofibrillar myopathy 1

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


hypertrophic cardiomyopathy 11

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


dilated cardiomyopathy 1KK

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


Noonan syndrome 4

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


cardiomyopathy, dilated, 2F

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


hypertrophic cardiomyopathy 15

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


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


name: arrhythmogenic right ventricular dysplasia 12

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


hypertrophic cardiomyopathy 18

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


name: Emery-Dreifuss muscular dystrophy 7, autosomal dominant

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


atrial standstill 2

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


name: long chain acyl-CoA dehydrogenase deficiency

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


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


hypertrophic cardiomyopathy 7

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


glutaric acidemia IIc

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


dilated cardiomyopathy 1NN

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


peripartum cardiomyopathy

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


cardiofaciocutaneous syndrome 1

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


left ventricular noncompaction 1

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


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


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

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


dilated cardiomyopathy 2A

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


name: Emery-Dreifuss muscular dystrophy 5, autosomal dominant

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


familial cardiomyopathy

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


glutaric acidemia IIb

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


dilated cardiomyopathy 1S

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


dilated cardiomyopathy 1GG

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


primary localized amyloidosis

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


dilated cardiomyopathy 1E

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


Noonan syndrome 6

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


hypertrophic cardiomyopathy 19

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


dilated cardiomyopathy 1D

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


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

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


dilated cardiomyopathy 1P

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


hypertrophic cardiomyopathy 21

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


Noonan syndrome 13

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


non-compaction cardiomyopathy

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


name: arrhythmogenic right ventricular dysplasia, familial, 14


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


hypertrophic cardiomyopathy 3

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


LEOPARD syndrome 3

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


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


hypertrophic cardiomyopathy 12

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


name: progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

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


dilated cardiomyopathy 1JJ

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


hypertrophic cardiomyopathy 16

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


dilated cardiomyopathy 1FF

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


dilated cardiomyopathy 1Z

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


name: arrhythmogenic right ventricular dysplasia 9

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


name: Noonan syndrome with multiple lentigines

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


name: X-linked Emery-Dreifuss muscular dystrophy

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


episodic angioedema with eosinophilia

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


familial hypertrophic cardiomyopathy

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


cardiomyopathy, familial restrictive, 1

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