name: cardiomyopathy, familial hypertrophic 27

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


idiopathic hypereosinophilic syndrome

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


autoimmune cardiomyopathy

description: An autoimmune form of cardiomyopathy.


dilated cardiomyopathy 1K

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


dilated cardiomyopathy 1Y

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


hypertrophic cardiomyopathy 9

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


cardiofaciocutaneous syndrome 4

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


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

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


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


name: familial isolated arrhythmogenic right ventricular dysplasia

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


dilated cardiomyopathy 2B

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


name: congenital-onset Steinert myotonic dystrophy


cardiomyopathy, dilated, 2D

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


name: Emery-Dreifuss muscular dystrophy 3, autosomal recessive

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


name: catecholaminergic polymorphic ventricular tachycardia 1

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


dilated cardiomyopathy 1A

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


name: Noonan syndrome-like disorder with loose anagen hair

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


tropical endomyocardial fibrosis

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


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

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


mixed cerebral palsy

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


benign neoplasm of spinal cord

description: A benign neoplasm that involves the spinal cord.


Sacral Chordoma

description: A chordoma that arises from the sacral area.


name: sacral spinal canal and spinal cord meningioma

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


Lumbar Spine Neoplasm

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


spinal cord lymphoma

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


childhood spinal cord tumor

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


spinal chordoma

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


name: intradural extramedullary spinal canal neoplasm

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


name: thoracic spinal canal and spinal cord meningioma

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


name: lumbar spinal canal and spinal cord meningioma

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


spinal cord sarcoma

description: A sarcoma that arises from the spinal cord.


intraspinal meningioma

description: A meningioma that arises from the spinal meninges.


epidural spinal canal neoplasm

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


Cervical Spine Neoplasm

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


name: Recurrent Childhood Spinal Cord Neoplasm

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


Lumbosacral Spine Neoplasm

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


epidural spinal canal angiolipoma

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


cauda equina neuroendocrine tumor

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


name: Refractory Childhood Spinal Cord Neoplasm

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


spinal multifocal clear cell meningioma

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


name: multiple spinal canal and spinal cord meningioma

description: Multiple meningiomas that arises from the spinal meninges.


Spinal Cord Pilocytic Astrocytoma

description: Pilocytic astrocytoma that arises from the spinal cord.


Drop Metastasis in the Spinal Cord

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


name: metastatic malignant neoplasm in the spinal cord

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


spinal cord melanoma

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


spinal cord cancer

description: A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma.


name: Anaplastic (Malignant) Intraspinal Meningioma

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


conus medullaris neoplasm

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


Sacral Spine Neoplasm

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


Recurrent Adult Spinal Cord Neoplasm

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


Refractory Adult Spinal Cord Neoplasm

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


Refractory Spinal Cord Neoplasm

description: Spinal cord neoplasm resistant to treatment.


lumbosacral lipoma

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


Childhood Spinal Cord Ependymoma

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


epidural spinal canal meningioma

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


Thoracic Chordoma

description: A chordoma that arises from the thoracic spine.


cauda equina neoplasm

description: A neoplasm involving a cauda equina.


Thoracic Spine Neoplasm

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


Intraspinal Neoplasm

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


name: cervical spinal canal and spinal cord meningioma

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


spinal cord lipoma

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


Recurrent Spinal Cord Neoplasm

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


Spinal meningioma benign

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


Stage IB Fallopian Tube Cancer AJCC v8

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


epididymal adenomatoid tumor

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


adenomatoid tumor

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


pleural adenomatoid tumor

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


uterine corpus adenomatoid tumor

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


fallopian tube adenomatoid tumor

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


name: Bladder Non-Invasive Papillary Urothelial Carcinoma, High Grade

description: Bladder non-invasive papillary urothelial carcinoma characterized by marked architectural and cytologic abnormalities and frequent mitotic figures (at all levels of the urothelium).


name: Stage 0a Renal Pelvis and Ureter Cancer AJCC v7

description: Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Bladder Urothelial Proliferation of Uncertain Malignant Potential

description: Marked thickening of the bladder urothelium with minimal or absent cytologic atypia and absence of true papillary formations. It is found most commonly on routine follow-up cystoscopy in patients with a history of papillary urothelial neoplasms. (WHO 2016)


Stage 0a Bladder Cancer AJCC v8

description: Stage 0a includes: Ta, N0, M0. Ta: Non-invasive papillary carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0 Renal Pelvis and Ureter Cancer AJCC v7

description: Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0).  Ta: Papillary noninvasive carcinoma. Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Bladder Non-Invasive Urothelial Neoplasm

description: A non-invasive neoplasm that arises from the urothelial lining of the bladder.


Stage 0is Renal Pelvis Cancer AJCC v8

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


name: Non-invasive papillary urothelial carcinoma, high-grade

description: A non-invasive papillary urothelial carcinoma characterized by marked architectural and cytologic abnormalities and frequent mitotic figures (at all levels of the urothelium). It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract.


Stage 0is Bladder Cancer AJCC v8

description: Stage 0is includes: Tis, N0, M0. Tis: Urothelial carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0a Renal Pelvis and Ureter Cancer AJCC v8

description: Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0is Renal Pelvis and Ureter Cancer AJCC v8


name: Stage 0is Renal Pelvis and Ureter Cancer AJCC v7

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


name: Non-invasive papillary urothelial carcinoma, low-grade

description: A non-invasive papillary urothelial carcinoma characterized by minimal cytologic atypia and infrequent mitotic figures (usually limited to the lower half of the tumor). It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract. This type of carcinoma recurs frequently, may invade the urinary tract wall, and has a low risk of progression.


bladder flat intraepithelial lesion

description: A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ.


name: Recurrent Bladder Non-Invasive Papillary Urothelial Carcinoma, Low Grade

description: The reemergence of bladder non-invasive papillary urothelial carcinoma, low grade, after a period of remission.


name: Early Stage Bladder Urothelial Carcinoma

description: Bladder urothelial carcinoma confined to the lining of the bladder.


name: Papillary Urothelial Neoplasm of Low Malignant Potential

description: A papillary neoplasm of the urothelium. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.


name: Non-invasive papillary urothelial carcinoma of bladder

description: Papillary urothelial neoplastic proliferation in the bladder with some level of cytological and architectural disorder visible at low to intermediate magnification, with no invasion beyond the basement membrane (Ta). (WHO 2016)


name: Bladder Non-Invasive Papillary Urothelial Carcinoma, Low Grade

description: Bladder non-invasive papillary urothelial carcinoma characterized by minimal cytologic atypia and infrequent mitotic figures (usually limited to the lower half of the tumor). This type of carcinoma recurs frequently, may invade the bladder wall, and has a low risk of progression.


anterior cranial fossa meningioma

description: A meningioma that affects the anterior cranial fossa.


olfactory groove meningioma

description: A meningioma that affects the olfactory sulcus.


cerebral falx meningioma

description: A meningioma that affects the falx cerebri.


cavernous sinus meningioma

description: A meningioma that affects the cavernous sinus.


name: Myeloid/lymphoid neoplasm with FLT3 rearrangement

description: Hematologic neoplasms characterized by the rearrangement of the FLT3 gene, most often resulting in the formation of t(12;13)(p13.2;q12.2)/ETV6-FLT3 fusion transcripts. Patients usually present with T-ALL or myeloid sarcoma.


cellular response to diamide

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

description: Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a diamide (N,N,N',N'-tetramethyldiazene-1,2-dicarboxamide) stimulus.


cortisone reductase deficiency 2

description: Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.


benign myoepithelioma of salivary gland

description: A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter.


autosomal dominant coarctation of aorta

description: Autosomal dominant form of aorta coarctation.


cellular response to acetylcholine

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


response to acetylcholine

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


Pneumocystis infectious disease

description: Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally.


Malposition of heart and cardiac apex

description: Any anatomical misplacement of the heart and cardiac apex such that the organ occupies an unusual location within the body.


fibromatosis, gingival, 1

description: Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.


lipoid proteinosis

description: Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.


cellular response to hydroxyurea

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


Intratubular malignant germ cells

description: A non-invasive lesion of the testis, characterized by the presence of malignant large germ cells with abundant cytoplasm in the seminiferous tubules. It may be associated with undescended or atrophic testis and infertility. The vast majority of cases progress to invasive germ cell tumors.


name: Testicular Cancer by AJCC v6 and v7 Stage

description: A term that refers to the staging of testicular cancer according to the American Joint Committee on Cancer, 6th and 7th editions.


name: Stage IB Testicular Cancer AJCC v6 and v7

description: Stage IB includes: (pT2, N0, M0, S0); (pT3, N0, M0, S0); (pT4, N0, M0, S0).  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.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


name: Stage IIB Testicular Cancer AJCC v6 and v7

description: Stage IIB includes: (Any pT/TX, N2, M0, S0); (Any pT/TX, N2, M0, S1).  pTX: Primary tumor cannot be assessed.  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.  M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


name: Stage I Testicular Non-Seminomatous Germ Cell Tumor 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: Stage IA Testicular Cancer AJCC v6 and v7

description: Stage IA includes: pT1, N0, M0, S0.  pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


name: Stage IIIB Testicular Cancer AJCC v6 and v7

description: Stage IIIB includes: (Any pT/TX, N1-3, M0, S2); (Any pT/TX, Any N, M1a, S2).  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. M1a: Non-regional nodal or pulmonary metastasis. S2: LDH 1.5-10 x N (N indicates the upper limit of normal for the LDH assay) or hCG 5,000-50,000 or AFP 1,000-10,000.  (AJCC 6th and 7th eds.)


name: Stage IIA Testicular Cancer AJCC v6 and v7

description: Stage IIA includes: (Any pT/TX, N1, M0, S0); (Any pT/TX, N1, M0, S1).  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.  M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000. (AJCC 6th and 7th eds.)


Intratubular Seminoma

description: Intratubular germ cell neoplasia characterized by the complete filling of the seminiferous tubules by seminoma cells.


name: Stage IIIC Testicular Cancer AJCC v6 and v7

description: Stage IIIC includes: (Any pT/TX, N1-3, M0, S3); (Any pT/TX, Any N, M1a, S3); (Any pT/TX, Any N, M1b, Any S).  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. M1a: Non-regional nodal or pulmonary metastasis.  M1b: Distant metastasis other than to non-regional lymph nodes and lung.  S3: LDH more than 10 x N (N indicates the upper limit of normal for the LDH assay) or hCG more than 50,000 or AFP more than 10,000. (AJCC 6th and 7th eds.)


name: Testicular germ cell tumor mixed stage III

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.)


name: Stage II Testicular Seminoma 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.)


name: Stage IIC Testicular Cancer AJCC v6 and v7

description: Stage IIC includes: (Any pT/TX, N3, M0, S0); (Any pT/TX, N3, M0, S1).  pTX: Primary tumor cannot be assessed.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


name: Stage III Testicular Cancer AJCC v6 and v7


name: Stage III Testicular Seminoma AJCC v6 and v7


name: Stage 0 Testicular Cancer AJCC v6 and v7

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.)


name: Stage I Testicular Cancer AJCC v6 and v7


name: Stage IS Testicular Cancer AJCC v6 and v7

description: Stage IS includes: Any pT/TX, N0, M0, S1-3.  pTX: Primary tumor cannot be assessed.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  S2: LDH 1.5-10 x N or hCG 5,000-50,000 or AFP 1,000-10,000.  S3: LDH more than 10 x N or hCG more than 50,000 or AFP more than 10,000. (AJCC 6th and 7th eds.)


Intratubular Embryonal Carcinoma

description: Intratubular germ cell neoplasia characterized by the filling of the seminiferous tubules by embryonal carcinoma cells. Central necrosis and calcifications are often present.


name: Testicular germ cell tumor mixed stage I


name: Stage II Testicular Cancer AJCC v6 and v7


name: Stage IIIA Testicular Cancer AJCC v6 and v7

description: Stage IIIA includes: (Any pT/TX, Any N, M1a, S0); (Any pT/TX, Any N, M1a, S1).  M1a: Non-regional nodal or pulmonary metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


name: Stage II Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7


name: Testicular embryonal carcinoma stage III


name: Testicular germ cell tumor mixed stage II


name: Stage III Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7


fucosidosis

description: Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.


Bone Hibernoma

description: A benign neoplasm that is composed of brown adipocytes and arises within or on the surface of bone.


name: Inappropriate Sinus Tachycardia Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Inappropriate sinus tachycardia at rest with heart rate  greater than 100 bpm that cannot be explained by any identifiable cause, including anemia, hypoxia, hypotension, or fever that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


gangliosidosis, emu

description: Gangliosidosis that occurs in emu.


Atypical Lymph Node

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

description: A lymph node that deviates from usual in terms of size, shape, and internal architecture.


Recurrent Childhood Osteosarcoma

description: The reemergence of childhood osteosarcoma after a period of remission.


CBL-related disorder

description: CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL.


name: congenital or early infantile CACH syndrome


name: leukoencephalopathy with vanishing white matter

description: A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes "foamy'' aspect.


name: leukoencephalopathy with vanishing white matter 5


name: leukoencephalopathy with vanishing white matter 2


name: leukoencephalopathy, progressive, with ovarian failure


name: leukoencephalopathy with vanishing white matter 3


name: leukoencephalopathy with vanishing white matter 1

description: Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene.


name: leukoencephalopathy with vanishing white matter 4


transient congenital hypothyroidism

description: A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone.


bone dysplasia, lethal Holmgren type

description: Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.


migraine, familial hemiplegic, 1

description: An autosomal dominant subtype of familial hemiplegic migraine caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A.


name: melanoma, cutaneous malignant, susceptibility to, 9


Recurrent Dedifferentiated Chordoma

description: The reemergence of dedifferentiated chordoma after a period of remission.


Recurrent Chordoma

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


Locally Recurrent Chordoma

description: The reemergence of chordoma after a period of remission, at or adjacent to the site of the original tumor.


name: Stage IV Primary Peritoneal Cancer AJCC v8

description: Stage IV includes: Any T, Any N, M1: M1: Distant metastasis, including pleural effusion with positive cytology; liver or splenic parenchymal metastasis; metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); and transmural involvement of intestine. (from AJCC 8th Ed.)


name: Recurrent Platinum-Resistant Primary Peritoneal High Grade Serous Adenocarcinoma

description: The reemergence of platinum-resistant primary peritoneal high-grade serous adenocarcinoma after a period of remission.


name: Refractory Primary Peritoneal Endometrioid Adenocarcinoma

description: Primary peritoneal endometrioid adenocarcinoma that is resistant to treatment.


name: Refractory Primary Peritoneal Clear Cell Adenocarcinoma

description: Primary peritoneal clear cell adenocarcinoma that is resistant to treatment.


name: Recurrent Primary Peritoneal Clear Cell Adenocarcinoma

description: The reemergence of primary peritoneal clear cell adenocarcinoma after a period of remission.


name: Stage IIIB Primary Peritoneal Cancer AJCC v8

description: Stage IIIB includes: T3b, N0/N1, M0. T3b: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


Advanced Primary Peritoneal Carcinoma

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


Clear cell adenocarcinoma of peritoneum

description: An extremely rare adenocarcinoma arising from the peritoneum. It is composed of malignant glandular epithelium containing clear cells.


name: Refractory Primary Peritoneal Transitional Cell Carcinoma

description: Primary peritoneal transitional cell carcinoma that is resistant to treatment.


name: Refractory Primary Peritoneal Adenocarcinoma

description: Primary peritoneal adenocarcinoma that is resistant to treatment.


Metastatic Primary Peritoneal Carcinoma

description: A carcinoma that arises from the peritoneum and has metastasized to another anatomic site.


name: Stage III Primary Peritoneal Cancer AJCC v7

description: Stage III includes: T3, N0, M0.  T3: Microscopically confirmed peritoneal tumor outside pelvis.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


name: Metastatic Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high-grade serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


name: Stage IIIC Primary Peritoneal Cancer AJCC v7

description: Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal tumor beyond pelvis more than 2cm in greatest dimension and/or regional lymph node metastasis. N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


name: Recurrent Primary Peritoneal Adenocarcinoma

description: The reemergence of primary peritoneal adenocarcinoma after a period of remission.


name: Unresectable Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high-grade serous adenocarcinoma that is not amenable to surgical resection.


name: Refractory Primary Peritoneal Serous Adenocarcinoma

description: Primary peritoneal serous adenocarcinoma that is resistant to treatment.


name: Stage II Primary Peritoneal Cancer AJCC v8

description: Stage II includes: T2, N0, M0. T2: Primary peritoneal cancer. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


name: Metastatic Primary Peritoneal Serous Adenocarcinoma

description: Primary peritoneal serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


name: Stage IIA Primary Peritoneal Cancer AJCC v8

description: Stage IIA includes: T2a, N0, M0. T2a: Primary peritoneal cancer with extension and/or implants on the uterus and/or fallopian tube(s) and/or ovaries. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


name: Locally Advanced Unresectable Primary Peritoneal Carcinoma

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


name: Recurrent Primary Peritoneal Low Grade Serous Adenocarcinoma

description: The reemergence of primary peritoneal low grade serous adenocarcinoma after a period of remission.


name: Primary Peritoneal Transitional Cell Carcinoma

description: An extremely rare transitional cell carcinoma that arises from the peritoneum.


name: Platinum-Resistant Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that progresses between one and six months of completing platinum therapy.


name: Unresectable Primary Peritoneal Endometrioid Adenocarcinoma

description: Primary peritoneal endometrioid adenocarcinoma that is not amenable to surgical resection.


name: Primary Peritoneal Undifferentiated Carcinoma

description: An extremely rare carcinoma arising from the peritoneum. It is characterized by the presence of a diffuse malignant infiltrate that is composed of epithelial cells without evidence of glandular or squamous differentiation.


name: Unresectable Primary Peritoneal Serous Adenocarcinoma

description: Primary peritoneal serous adenocarcinoma that is not amenable to surgical resection.


name: Recurrent Primary Peritoneal Transitional Cell Carcinoma

description: The reemergence of primary peritoneal transitional cell carcinoma after a period of remission.


name: Stage IIIB Primary Peritoneal Cancer AJCC v7

description: Stage IIIB includes: T3b, N0, M0.  T3b: Macroscopic peritoneal tumor beyond pelvis 2 cm or less in greatest dimension. N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


name: Metastatic Platinum-Resistant Primary Peritoneal Carcinoma

description: A platinum-resistant primary peritoneal carcinoma that has spread from its original site of growth to another anatomic site.


name: Refractory Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high grade serous adenocarcinoma that is resistant to treatment.


name: Recurrent Primary Peritoneal Undifferentiated Carcinoma

description: The reemergence of primary peritoneal undifferentiated carcinoma after a period of remission.


Refractory Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that is resistant to treatment.


name: Unresectable Platinum-Resistant Primary Peritoneal Carcinoma

description: A platinum-resistant primary peritoneal carcinoma that is not amenable to surgical resection.


name: Recurrent Platinum-Sensitive Primary Peritoneal Carcinoma

description: The reemergence of platinum-sensitive primary peritoneal carcinoma after a period of remission.


name: Primary Peritoneal Cancer by AJCC v8 Stage

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


name: Primary Peritoneal Low Grade Serous Adenocarcinoma

description: A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by low grade histopathologic features.


name: Stage III Primary Peritoneal Cancer AJCC v8

description: Stage III includes: IIIA: T3a, N0/N1, M0; IIIB: T3b, N0/N1, M0; IIIC: T3c, N0/N1, M0. T3a: Primary peritoneal cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. T3b: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension with or without metastasis to the retroperitoneal lymph nodes. T3c: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


name: Primary Peritoneal Cancer by AJCC v7 Stage

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


name: Unresectable Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that is not amenable to surgical resection.


name: Platinum-Refractory Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high-grade serous adenocarcinoma that progresses during platinum therapy or within one month of completing platinum therapy.


name: Primary Peritoneal Endometrioid Adenocarcinoma

description: An exceedingly rare endometrioid adenocarcinoma arising from the peritoneum.


name: Recurrent Primary Peritoneal High Grade Serous Adenocarcinoma

description: The reemergence of primary peritoneal high-grade serous adenocarcinoma after a period of remission.


name: Metastatic Primary Peritoneal Adenocarcinoma

description: Primary peritoneal adenocarcinoma that has spread from its original site of growth to another anatomic site.


Primary Peritoneal Adenocarcinoma

description: A rare adenocarcinoma that arises from the lining of the peritoneum.


name: Stage IV Primary Peritoneal Cancer AJCC v7

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


name: Platinum-Refractory Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that progresses during platinum therapy or within one month of completing platinum therapy.


name: Unresectable Primary Peritoneal Adenocarcinoma

description: Primary peritoneal adenocarcinoma that is not amenable to surgical resection.


name: Stage IVA Primary Peritoneal Cancer AJCC v8

description: Stage IVA includes: Any T, Any N, M1a. M1a: Primary peritoneal cancer with pleural effusion with positive cytology. (from AJCC 8th Ed.)


name: Recurrent Primary Peritoneal Endometrioid Adenocarcinoma

description: The reemergence of primary peritoneal endometrioid adenocarcinoma after a period of remission.


Recurrent Primary Peritoneal Carcinoma

description: The reemergence of primary peritoneal carcinoma after a period of remission.


name: Recurrent Platinum-Resistant Primary Peritoneal Carcinoma

description: The reemergence of platinum-resistant primary peritoneal carcinoma after a period of remission.


name: Refractory Primary Peritoneal Low Grade Serous Adenocarcinoma

description: Primary peritoneal low grade serous adenocarcinoma that is resistant to treatment.


name: Stage IIIA Primary Peritoneal Cancer AJCC v7

description: Stage IIIA includes: T3a, N0, M0.  T3a: Microscopic peritoneal tumor beyond pelvis (no macroscopic tumor). N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th Ed.)


name: Refractory Primary Peritoneal Undifferentiated Carcinoma

description: Primary peritoneal undifferentiated carcinoma that is resistant to treatment.


name: Locally Advanced Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Stage IIIC Primary Peritoneal Cancer AJCC v8

description: Stage IIIC includes: T3c, N0/N1, M0. T3c: Primary peritoneal cancer with macroscopic peritoneal metastasis beyond the pelvis more than 2 cm in greatest dimension with or without metastasis to the retroperitoneal lymph nodes (includes extension of tumor to capsule of liver and spleen without parenchymal involvement of either organ). N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


name: Stage IIIA Primary Peritoneal Cancer AJCC v8

description: Stage IIIA includes: T3a, N0/N1, M0. T3a: Primary peritoneal cancer with microscopic extrapelvic (above the pelvic brim) peritoneal involvement with or without positive retroperitoneal lymph nodes. N0: No regional lymph node metastasis. N1: Positive retroperitoneal lymph nodes only (histologically confirmed). M0: No distant metastasis. (AJCC 8th Ed.)


name: Recurrent Primary Peritoneal Serous Adenocarcinoma

description: The reemergence of primary peritoneal serous adenocarcinoma after a period of remission.


name: Stage IIB Primary Peritoneal Cancer AJCC v8

description: Stage IIB includes: T2b, N0, M0. T2b: Primary peritoneal cancer with tumor extension to and/or implants on other pelvic tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


name: Stage IVB Primary Peritoneal Cancer AJCC v8

description: Stage IVB includes: Any T, Any N, M1b. M1b: Primary peritoneal cancer with liver or splenic parenchymal metastases; metastases to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); transmural involvement of intestine. (from AJCC 8th Ed.)


name: Primary Peritoneal High Grade Serous Adenocarcinoma

description: A serous adenocarcinoma that arises from the lining of the peritoneum. It is characterized by high grade histopathologic features.


name: Platinum-Sensitive Primary Peritoneal Carcinoma

description: Primary peritoneal carcinoma that has a documented response to platinum-based chemotherapy.


name: Platinum-Resistant Primary Peritoneal High Grade Serous Adenocarcinoma

description: Primary peritoneal high-grade serous adenocarcinoma that progresses between one and six months of completing platinum therapy.


name: primary microcephaly-mild intellectual disability-young-onset diabetes syndrome


vascular cancer

description: A malignant neoplasm arising from the blood vessels.


great vessel cancer

description: A malignant neoplasm arising from the great vessels.


Malignant Inferior Vena Cava Neoplasm

description: A malignant neoplasm involving the inferior vena cava.


pulmonary artery choriocarcinoma

description: A rare choriocarcinoma that arises from a pulmonary artery.


Malignant Superior Vena Cava Neoplasm

description: A malignant neoplasm involving the superior vena cava.


superior vena cava leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells.


Benign neoplasm of great vessels

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


aortic malignant tumor

description: A cancer that involves the aorta.


scleroderma, non-human animal

description: Scleroderma that occurs in non-human animals.


scleroderma, chicken

description: Scleroderma that occurs in chicken.


name: autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction


Metastatic Malignant Glomus Tumor

description: A malignant glomus tumor that has spread from its original site of growth to another anatomic site.


Locally Advanced Malignant Glomus Tumor

description: A malignant glomus tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


Unresectable Malignant Glomus Tumor

description: A malignant glomus tumor that is not amenable to surgical resection.


Refractory Malignant Glomus Tumor

description: A malignant glomus tumor that is resistant to treatment.


Stage III Fallopian Tube Cancer AJCC v6

description: Stage III includes: (T3, N0, M0); IIIA (T3a, N0, M0); IIIB (T3b, N0, M0); IIIC (T3c, N0, M0).  T3: Tumor involves one or both fallopian tubes, with peritoneal implants outside the pelvis.  T3a: Microscopic peritoneal metastasis outside the pelvis.  T3b: Macroscopic peritoneal metastasis outside the pelvis 2cm or less in greatest dimension.  T3c: Peritoneal metastasis more than 2cm in diameter. (AJCC 6th ed.)


name: intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome


Stage IA2 Lung Cancer AJCC v8

description: Stage IA2 includes: T1b, N0, M0. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)


myositis ossificans, cattle

description: Myositis ossificans that occurs in cattle.


myositis ossificans, non-human animal

description: Myositis ossificans that occurs in non-human animals.


myositis ossificans, pig

description: Myositis ossificans that occurs in pig.


name: ocular dysgenesis caused by defects in PAX6 regulation

description: Any eye disorder in which the cause of the disease is a variant in the PAX6 gene itself or a variant within another locus that results in defective regulation of the PAX6 gene.


name: Metastatic malignant neoplasm to prostate

description: The spread of a malignant neoplasm to the prostate gland from an adjacent or distant anatomic site.


name: Metastatic Malignant Neoplasm in the Male Reproductive System

description: The spread of a malignant neoplasm to the male reproductive system from an adjacent or distant anatomic site.


Secondary Prostate Urothelial Carcinoma

description: A transitional cell carcinoma that has spread to the prostate gland directly from the bladder.


name: Metastatic malignant neoplasm to seminal vesicle

description: The spread of a malignant neoplasm to the seminal vesicle from an adjacent or distant anatomic site.


Metastatic malignant neoplasm to testis

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


name: Metastatic malignant neoplasm to epididymis

description: A malignant neoplasm that has metastasized to the epididymis from another anatomic site.


Metastatic malignant neoplasm to penis

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


description: A cholangiocarcinoma that has developed following infection with Opisthorchis viverrini.


name: Stage 0 Hilar Cholangiocarcinoma AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ/high grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Locally Advanced Distal Bile Duct Carcinoma

description: Distal bile duct carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Stage IVB Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage IVB includes: Any T, Any N, M1.  M1: Distant metastasis. (from AJCC 7th Ed.)


name: Stage IA Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IA includes: T1a, N0, M0. T1a: Solitary tumor equal or less than 5 cm without vascular invasion.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Cholangiocarcinoma resectable

description: Cholangiocarcinoma that is amenable to surgical resection.


Metastatic Bile Duct Carcinoma

description: A carcinoma that arises from the intrahepatic or extrahepatic bile ducts and has metastasized to other anatomic sites.


name: Advanced Extrahepatic Bile Duct Carcinoma

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


name: Stage IVB Hilar Cholangiocarcinoma AJCC v8

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


name: Stage IB Distal Bile Duct Cancer AJCC v7

description: Stage IB includes: T2, N0, M0. T2: Tumor invades beyond the wall of the bile duct.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Localized Extrahepatic Bile Duct Carcinoma

description: A carcinoma that arises from the extrahepatic bile ducts and it has not spread to other anatomic sites.


name: Stage IIIB Hilar Cholangiocarcinoma AJCC v7

description: Stage IIIB includes: T1-3, N1, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue.  T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue.  T2b: Tumor invades adjacent hepatic parenchyma.  T3: Tumor invades unilateral branches of the portal vein or hepatic artery.  N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein).  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Hilar Cholangiocarcinoma by AJCC v7 Stage

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


Cholangiocarcinoma non-resectable

description: Cholangiocarcinoma that is not amenable to surgical resection.


name: Stage IVA Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage IVA includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor with periductal invasion. N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Distal Bile Duct Adenocarcinoma

description: An adenocarcinoma that arises from the common bile duct distal to the insertion of the cystic duct.


name: Clear Cell Intrahepatic Cholangiocarcinoma

description: A morphologic variant of intrahepatic cholangiocarcinoma composed of malignant glandular epithelium, an abundant fibrous stroma, and the presence of clear cells. Clinical symptoms include abdominal pain, weight loss and malaise.


Stage I Distal Bile Duct Cancer AJCC v8

description: Stage I includes: T1, N0, M0. T1: Tumor invading the bile duct wall with a depth less than 5 mm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Metastatic Hilar Cholangiocarcinoma

description: Hilar cholangiocarcinoma that has spread from its original site of growth to another anatomic site.


name: Stage IIIC Hilar Cholangiocarcinoma AJCC v8

description: Stage IIIC includes: Any T, N1, M0. N1: One to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Unresectable Distal Bile Duct Adenocarcinoma

description: Distal bile duct adenocarcinoma that is not amenable to surgical resection.


name: Recurrent Distal Bile Duct Adenocarcinoma

description: The reemergence of distal bile duct adenocarcinoma after a period of remission.


name: Extrahepatic Bile Duct Neuroendocrine Carcinoma

description: An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. The mitotic count is more than 20 per 10 HPF. It is classified as either small or large cell neuroendocrine carcinoma based on the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm.


name: Stage I Hilar Cholangiocarcinoma AJCC v7

description: Stage I includes: T1, N0, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Locally Advanced Unresectable Cholangiocarcinoma

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


name: Stage IV Hilar Cholangiocarcinoma AJCC v8

description: Stage IV includes: IVA: (Any T, N2, M0); IVB: (Any T, Any N, M1). N2: Four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Bile duct cancer resectable

description: Extrahepatic bile duct carcinoma that is amenable to surgical removal.


Locally Advanced Bile Duct Carcinoma

description: A bile duct carcinoma that has spread to nearby tissues or lymph nodes.


Metastatic cholangiocarcinoma

description: A cholangiocarcinoma that has metastasized to other anatomic sites.


Advanced Bile Duct Carcinoma

description: A carcinoma that arises from the intrahepatic or extrahepatic bile ducts and has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Stage IVA Hilar Cholangiocarcinoma AJCC v7

description: Stage IVA includes: T4, N0-1, M0. T4: Tumor invades the main portal vein or its branches bilaterally; or the common hepatic artery; or the second-order biliary radicals bilaterally; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement.  N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis (including nodes along the cystic duct, common bile duct, hepatic artery, and portal vein).  M0: No distant metastasis.  (from AJCC 7th Ed.)


name: Locally Advanced Intrahepatic Cholangiocarcinoma

description: Intrahepatic cholangiocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Metastatic Distal Bile Duct Adenocarcinoma

description: Distal bile duct adenocarcinoma that has spread from its original site of growth to another anatomic site.


name: intestinal type adenocarcinoma of extrahepatic bile duct

description: An adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of neoplastic tubular glands lined by columnar cells or neoplastic glands lined by goblet cells.


Bile duct cancer recurrent

description: The reemergence of bile duct carcinoma after a period of remission.


name: Stage III Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); (Any T, N1, M0). T3: Tumor perforating the visceral peritoneum. T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IV Distal Bile Duct Cancer AJCC v8

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


description: Intrahepatic cholangiocarcinoma that has metastasized to a limited number of sites.


name: Stage III Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage III includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum or involving the local extra hepatic structures by direct invasion. N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage IIIA Distal Bile Duct Cancer AJCC v8

description: Stage IIIA includes: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Refractory Bile Duct Carcinoma

description: Bile duct carcinoma that is resistant to treatment.


name: Stage IIIB Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IIIB includes: (T4, N0, M0); (Any T, N1, M0). T4: Tumor involving local extrahepatic structures by direct invasion. N0: No regional lymph node metastasis. N1: Regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


description: The reemergence of intrahepatic cholangiocarcinoma after a period of remission.


name: Recurrent Extrahepatic Bile Duct Carcinoma

description: The reemergence of an extrahepatic bile duct carcinoma after a period of remission.


name: Refractory Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that is resistant to treatment.


name: anaplastic carcinoma of extrahepatic bile duct

description: A carcinoma without evidence of differentiation arising from the extrahepatic bile ducts.


name: Hilar Cholangiocarcinoma by AJCC v8 Stage

description: A term that refers to the staging of hilar cholangiocarcinoma according to the American Joint Committee on Cancer, 8th edition. Hilar well-differentiated neuroendocrine tumors and sarcomas are not staged using this staging system. (from AJCC 8th Ed.)


name: Stage 0 Intrahepatic Cholangiocarcinoma AJCC v7

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


name: Stage II Distal Bile Duct Cancer AJCC v8

description: Stage II includes: IIA: (T1, N1, M0); (T2, N0, M0); IIB: (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IVA Hilar Cholangiocarcinoma AJCC v8

description: Stage IVA includes: Any T, N2, M0. N2: Four or more positive lymph nodes involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage I Hilar Cholangiocarcinoma AJCC v8

description: Stage I includes: T1, N0, M0. T1: Tumor confined to the bile duct, with extension up to the muscle layer or fibrous tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage II Hilar Cholangiocarcinoma AJCC v8

description: Stage II includes: T2a-b, N0, M0. T2a: Tumor invading beyond the wall of the bile duct to surrounding adipose tissue. T2b: Tumor invading adjacent hepatic parenchyma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage II Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage II includes: T2, N0, M0. T2: Solitary tumor with intrahepatic vascular invasion, or multiple tumors, with or without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Bile Duct Papillary Neoplasm with an Associated Invasive Carcinoma

description: An intraductal papillary neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.


name: Intrahepatic Cholangiocarcinoma by AJCC v8 Stage

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


name: Stage IV Intrahepatic Cholangiocarcinoma AJCC v8

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


name: Stage IIB Distal Bile Duct Cancer AJCC v7

description: Stage IIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T1: Tumor confined to the bile duct histologically.  T2: Tumor invades beyond the wall of the bile duct. T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage IIIA Hilar Cholangiocarcinoma AJCC v8

description: Stage IIIA includes: T3, N0, M0. T3: Tumor invading unilateral branches of the portal vein or hepatic artery. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Distal Bile Duct Cancer by AJCC v8 Stage

description: A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to bile duct adenocarcinomas, biliary intraepithelial neoplasia, high-grade neuroendocrine carcinomas, and papillary carcinomas that arise from the distal bile duct. Tumors arising in the ampulla of Vater, sarcomas, and well-differentiated neuroendocrine tumors (carcinoids) are not staged using this staging system. (from AJCC 8th Ed.)


name: Metastatic Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that has spread from its original site of growth to another anatomic site.


name: Extrahepatic Bile Duct Adenocarcinoma, Biliary Type

description: A well or moderately differentiated adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of malignant tubular glands.


name: Stage IB Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: carcinosarcoma of extrahepatic bile duct

description: A carcinoma that arises from the extrahepatic bile ducts and it is characterized by the presence of a sarcomatous component.


name: Stage IV Distal Bile Duct Cancer AJCC v7

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


name: Stage IIB Distal Bile Duct Cancer AJCC v8

description: Stage IIB includes: (T2, N1, M0); (T3, N0, M0); (T3, N1, M0). T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0 Hilar Cholangiocarcinoma AJCC v7

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


name: Stage IA Distal Bile Duct Cancer AJCC v7

description: Stage IA includes: T1, N0, M0. T1: Tumor confined to the bile duct histologically.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Locally Advanced Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Unresectable Bile Duct Carcinoma

description: Bile duct carcinoma that is not amenable to surgical resection.


name: Stage IIIB Distal Bile Duct Cancer AJCC v8

description: Stage IIIB includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IVB Hilar Cholangiocarcinoma AJCC v7

description: Stage IVB includes: (Any T, N2, M0); (Any T, Any N, M1).  N2: MetastasIs to periaortic, pericaval, superior mesenteric artery, and/or celiac artery lymph nodes.  M0: No distant metastasis.  M1: Distant metastasis. (from AJCC 7th Ed.)


description: Intrahepatic cholangiocarcinoma that has spread from its original site of growth to another anatomic site.


name: Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma

description: A carcinoma that arises from the extrahepatic bile ducts and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component.  At least 30 percent of either component should be present for the diagnosis to be made.


Unresectable Hilar Cholangiocarcinoma

description: Hilar cholangiocarcinoma that is not amenable to surgical resection.


name: Stage III Hilar Cholangiocarcinoma AJCC v8

description: Stage III includes: IIIA: (T3, N0, M0); IIIB: (T4, N0, M0); IIIC: (Any T, N1, M0). T3: Tumor invading unilateral branches of the portal vein or hepatic artery. T4: Tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. N1: One to three positive lymph nodes typically involving the hilar, cystic duct, common bile duct, hepatic artery, posterior pancreatoduodenal, and portal vein lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Intrahepatic Cholangiocarcinoma by AJCC v7 Stage

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


name: Stage IIIA Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage IIIA includes: T3, N0, M0. T3: Tumor perforating the visceral peritoneum. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IIA Distal Bile Duct Cancer AJCC v8

description: Stage IIA includes: (T1, N1, M0); (T2, N0, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage II Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage II includes: T2, N0, M0.  T2: Solitary tumor with vascular invasion or multiple tumors, with or without vascular invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Refractory Distal Bile Duct Adenocarcinoma

description: Distal bile duct adenocarcinoma that is resistant to treatment.


Metastatic Distal Bile Duct Carcinoma

description: A distal bile duct carcinoma that has spread from its original site of growth to other anatomic sites.


name: Extrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

description: A papillary neoplasm that arises from the epithelium of the extrahepatic bile ducts and it is associated with an invasive carcinomatous component.  The carcinomatous component is an adenocarcinoma.


description: Intrahepatic cholangiocarcinoma that is amenable to surgical resection.


name: Stage IIA Distal Bile Duct Cancer AJCC v7

description: Stage IIA includes: T3, N0, M0.  T3: Tumor invades the gallbladder, pancreas, duodenum, or other adjacent organs without involvement of the celiac axis or the superior mesenteric artery.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


Cholangiocarcinoma recurrent

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


name: Small Duct Intrahepatic Cholangiocarcinoma

description: An intrahepatic cholangiocarcinoma that arises from the small interlobular bile ducts.


name: Stage 0 Intrahepatic Cholangiocarcinoma AJCC v8

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


name: Distal Bile Duct Cancer by AJCC v7 Stage

description: A term that refers to the staging of distal bile duct cancer according to the American Joint Committee on Cancer, 7th edition.


description: Intrahepatic cholangiocarcinoma that is resistant to treatment.


name: Extrahepatic Bile Duct Adenocarcinoma, Gastric Foveolar Type

description: An unusual, well differentiated adenocarcinoma that arises from the extrahepatic bile ducts.  It is characterized by the presence of tall malignant columnar cells with mucin-containing cytoplasm and basally located nuclei.


description: Intrahepatic cholangiocarcinoma that is not amenable to surgical removal.


name: Stage II Hilar Cholangiocarcinoma AJCC v7

description: Stage II includes: T2a-b, N0, M0.  T2a: Tumor invades beyond the wall of the bile duct to surrounding adipose tissue.  T2b: Tumor invades adjacent hepatic parenchyma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage III Distal Bile Duct Cancer AJCC v7

description: Stage III includes: T4, Any N, M0. T4: Tumor involves the celiac axis or the superior mesenteric artery.  M0: No distant metastasis. (from AJCC 7th Ed.)


Locally Advanced Cholangiocarcinoma

description: Cholangiocarcinoma that has spread to nearby tissues or lymph nodes.


name: Stage I Intrahepatic Cholangiocarcinoma AJCC v8

description: Stage I includes: IA (T1a, N0, M0); IB (T1b, N0, M0). T1a: Solitary tumor equal or less than 5 cm without vascular invasion.  T1b: Solitary tumor larger than 5 cm without vascular invasion. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Unresectable Extrahepatic Bile Duct Carcinoma

description: Extrahepatic bile duct carcinoma that is not amenable to surgical removal.


name: Stage IIIB Hilar Cholangiocarcinoma AJCC v8

description: Stage IIIB includes: T4, N0, M0. T4: Tumor invading the main portal vein or its branches bilaterally, or the common hepatic artery; or unilateral second-order biliary radicals with contralateral portal vein or hepatic artery involvement. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Resectable Extrahepatic Bile Duct Adenocarcinoma

description: Extrahepatic bile duct adenocarcinoma that is amenable to surgical resection.


name: Stage IIIA Hilar Cholangiocarcinoma AJCC v7

description: Stage IIIA includes: T3, N0, M0. T3: Tumor invades unilateral branches of the portal vein or hepatic artery.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Intrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

description: A papillary neoplasm that arises from the epithelium of the intrahepatic bile ducts and it is associated with an invasive carcinomatous component.  The carcinomatous component is an intrahepatic cholangiocarcinoma.


name: Stage I Intrahepatic Cholangiocarcinoma AJCC v7

description: Stage I includes: T1, N0, M0. T1: Solitary tumor without vascular invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


name: Stage III Distal Bile Duct Cancer AJCC v8

description: Stage III includes: IIIA: (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); IIIB: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T1: Tumor invading the bile duct wall with a depth less than 5 mm. T2: Tumor invading the bile duct wall with a depth of 5-12 mm. T3: Tumor invading the bile duct wall with a depth greater than 12 mm. T4: Tumor involving the celiac axis, superior mesenteric artery, and/or common hepatic artery. N0: No regional lymph node metastasis. N1: Metastasis in one to three regional lymph nodes. N2: Metastasis in four or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Bile duct adenocarcinoma resectable

description: Bile duct adenocarcinoma that is amenable to surgical resection.


name: Extrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma

description: A mucinous cystic neoplasm that arises from the extrahepatic bile ducts and it is associated with an invasive carcinomatous component.


Stage 0 Distal Bile Duct Cancer AJCC v8

description: Stage 0 includes: Tis, N0, M0. Tis: Carcinoma in situ/high-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Distal Bile Duct Cancer AJCC v7

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


Refractory Cholangiocarcinoma

description: Cholangiocarcinoma that is resistant to treatment.


name: large cell neuroendocrine carcinoma of extrahepatic bile duct

description: An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts.  It is characterized by the presence of malignant large cells.


choroid spindle cell melanoma

description: A spindle cell melanoma that involves the optic choroid.


choroid epithelioid cell melanoma

description: A epithelioid cell melanoma that involves the optic choroid.


choroid necrotic melanoma

description: A choroid melanoma characterized by the presence of tumor cell necrosis.


choroid mixed cell melanoma

description: A mixed cell uveal melanoma that involves the optic choroid.


intermediate cell type choroid melanoma

description: Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


fumaric aciduria

description: Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.


vertebral artery insufficiency

description: A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction.


Anal Intraepithelial Neoplasia 2

description: Anal canal or perianal skin intraepithelial neoplasia with moderate dysplasia.


temporal lobe cancer

description: A cancer that involves the temporal lobe.


neoplasm of temporal lobe

description: A neoplasm (disease) that involves the temporal lobe.


name: Metastatic malignant neoplasm to vertebral column

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


Metastatic malignant neoplasm to bone

description: Evidence of secondary malignant neoplasm of bone and bone marrow.


name: Prostate Carcinoma Metastatic in the Bone

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


Breast Carcinoma Metastatic in the Bone

description: A carcinoma that arises from the breast and has metastasized to the bone.


name: Breast Carcinoma Metastatic in the Spine

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


name: Plasma Cell Myeloma-Induced Bone Disease

description: Bone infiltration by malignant plasma cells in patients with history of plasma cell myeloma. Bone involvement occurs in approximately eighty percent of newly diagnosed symptomatic plasma cell myeloma patients. The axial skeleton, particularly the spine, and the proximal long bones are the most commonly affected bone sites. It results in osteolytic bone lesions, widespread osteopenia, and compression fractures.


Lung Carcinoma Metastatic in the Bone

description: A carcinoma that arises from the lung and has metastasized to the bone.


syndromic disease

description: A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.


Cobb's syndrome

description: A rare congenital but non-hereditary disorder characterized by angiomas or arteriovenous malformations of the spinal cord. Clinical signs include sudden onset of radicular pain localizable to a dermatome with overlying cutaneous vascular lesions. Untreated, the clinical course follows a progression of sensory loss, weakness to paralysis and incontinence. However, clinical prognosis improves with endovascular embolization and/or surgical excision of the spinal lesion.


Sotos syndrome

description: Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.


branchio-oto-renal syndrome

description: A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).


Pancoast syndrome

description: A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent.


piriformis syndrome

description: A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica.


name: Ectopic Chorionic Gonadotropin Secretion Syndrome

description: A syndrome characterized by abnormal secretion of chorionic gonadotropin in conjunction with neoplastic growth occurring anywhere in the body.


yellow nail syndrome

description: A very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema.


Waardenburg syndrome type 2

description: Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.


Twiddler's syndrome

description: Dislodgement, breakdown, or other malfunction of an artificial cardiac pacemaker, chemotherapy port, drip infusion valve, or similar implanted diagnostic or therapeutic device as a result of unconscious or habitual manipulation by the patient.


name: Combined Immunodeficiencies Associated with Syndromic Features

description: A group of genetic immunodeficiency syndromes with unique clinical features and well-characterized underlying immune defects, comprised of: CID with congenital thrombocytopenia; CID due to DNA repair defects other than forms of SCID in category I; CID due to thymic defects with additional congenital anomalies; CID with immunoosseous dysplasias; Hyper-IgE syndromes (HIES); CID due to defects of vitamin B12 and folate metabolism; Anhidrotic ectodermal dysplasia with immunodeficiency; CID due to calcium channel defects; and various other CID with unique clinical phenotypes.


Microscopic enteritis

description: Diagnosis of celiac disease at a later age despite an asymptomatic clinical course. Serologic evidence with minimal histological changes in the intestinal mucosa are noted. The presence of human tissue transglutaminase, endomysial and gliadin antibodies without substantial villous changes follow many years of a seemingly gluten-tolerant diet. Despite an unremarkable clinical course, continued unrestricted gluten intake may predispose to the same sequelae as overt disease.


B cell deficiency

description: A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.


childhood myelodysplastic syndrome

description: An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.


Insulin resistance syndrome

description: A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome.


synpolydactyly

description: A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits).


name: Congenital Bone Marrow Failure Syndromes

description: A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome.


name: hereditary breast ovarian cancer syndrome

description: An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.


name: Myelodysplastic Syndrome with Monoallelic TP53 Mutation

description: Myelodysplastic syndrome characterized by the presence of monoallelic TP53 gene mutation.


opsoclonus-myoclonus syndrome

description: Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders.


name: autosomal dominant familial periodic fever

description: A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis.


Bernard-Soulier syndrome

description: Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.


Sifrim-Hitz-Weiss Syndrome

description: An autosomal dominant condition caused by mutation(s) in the CHD4 gene, encoding chromodomain helicase DNA binding protein 4. It is characterized by disordered intellectual development, with variable congenital defects.


stiff-person syndrome

description: Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.


Wernicke-Korsakoff syndrome

description: Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed.


cytokine release syndrome

description: A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening.


BENTA disease

description: BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.


vertebrobasilar insufficiency

description: Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated.


familial cold autoinflammatory syndrome

description: Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.


name: Familial Atypical Hemolytic Uremic Syndrome

description: Hemolytic uremic syndrome associated with an inherited defect, but which is not associated with shiga toxin-producing enterobacteria.


Joubert syndrome 3

description: Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.


name: Severe Combined Immunodeficiency with Absence of T, B, and NK Cells

description: A severe combined immunodeficiency disorder that is associated with a lack of T, B, and NK cells.


isotretinoin syndrome

description: Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.


name: Interferon Regulatory Factor 8 Deficiency

description: A genetic condition caused by mutation(s) in the IRF8 gene encoding interferon regulatory factor 8. Autosomal dominant (Immunodeficiency 32A) and autosomal recessive (Immunodeficiency 32B) genetic alterations result in different phenotypes, both of which have impairment of function in dendritic cells.


Dubowitz syndrome

description: A rare multiple congenital syndrome characterized primarily by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.


immunoglobulin heavy chain deficiency

description: A disorder that affects the production of complete immunoglobulins. Deletions in the heavy chain genes on chromosome 14 disrupt the synthesis and secretion of properly functioning antibodies resulting in monoclonal populations of truncated heavy chains without covalently bonded light chains. Such deletions have been implicated as playing a significant role in several diseases including leukemias, lymphomas and myelomas.


Behr syndrome

description: A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.


name: Myelodysplastic Syndrome with Genetic Abnormalities

description: Myelodysplastic syndrome characterized by the presence of defining genetic abnormalities.


diencephalic syndrome

description: Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.


name: Mental Retardation, Autosomal Dominant 18

description: An autosomal dominant neurodevelopmental syndrome caused by mutation(s) in the GATAD2B gene, encoding transcriptional repressor p66-beta. It is characterized by global developmental delay and intellectual impairment.


pseudopseudohypoparathyroidism

description: A disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).


Allergy to penicillin

description: An allergy to Penicillin.


Diamond-Blackfan anemia 5

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.


nevoid basal cell carcinoma syndrome

description: An autosomal dominant genetic syndrome caused by abnormalities in the PTCH and SUFU gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas.


complete trisomy 18

description: Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism.


hand-foot syndrome

description: A condition characterized by redness, pain, swelling, and tingling in the palms of the hands or the soles of the feet. It may appear as a side effect to chemotherapy agents.


AESOP Syndrome

description: An exceedingly rare syndrome characterized by adenopathy and a red-to-brown skin patch overlying a plasmacytoma.