protein kinase C delta type methylated 1 (human)

A protein kinase C delta type (human) that has been methylated on the residue at the position equivalent to Cys-175 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Cys-175, MOD:00660.


protein kinase C delta type isoform 1 (human)

A protein kinase C delta type isoform 1 that is encoded in the genome of human.


guanylate cyclase soluble subunit alpha-1 phosphorylated 1 (human)

A guanylate cyclase soluble subunit alpha-1 (human) that has been phosphorylated on the residue at the position equivalent to Thr-285 of the amino acid sequence represented by UniProtKB:Q02108-1. Example: UniProtKB:Q02108-1, Thr-285, MOD:00047.


Stage IV Primary Peritoneal Cancer AJCC v8

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

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.)


Refractory Primary Peritoneal Endometrioid Adenocarcinoma

Primary peritoneal endometrioid adenocarcinoma that is resistant to treatment.


Refractory Primary Peritoneal Clear Cell Adenocarcinoma

Primary peritoneal clear cell adenocarcinoma that is resistant to treatment.


Recurrent Primary Peritoneal Clear Cell Adenocarcinoma

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


Stage IIIB Primary Peritoneal Cancer AJCC v8

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

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

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


Refractory Primary Peritoneal Transitional Cell Carcinoma

Primary peritoneal transitional cell carcinoma that is resistant to treatment.


Refractory Primary Peritoneal Adenocarcinoma

Primary peritoneal adenocarcinoma that is resistant to treatment.


Metastatic Primary Peritoneal Carcinoma

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


Stage III Primary Peritoneal Cancer AJCC v7

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.)


Metastatic Primary Peritoneal High Grade Serous Adenocarcinoma

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


Stage IIIC Primary Peritoneal Cancer AJCC v7

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.)


Recurrent Primary Peritoneal Adenocarcinoma

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


Unresectable Primary Peritoneal High Grade Serous Adenocarcinoma

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


Refractory Primary Peritoneal Serous Adenocarcinoma

Primary peritoneal serous adenocarcinoma that is resistant to treatment.


Stage II Primary Peritoneal Cancer AJCC v8

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


Metastatic Primary Peritoneal Serous Adenocarcinoma

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


Stage IIA Primary Peritoneal Cancer AJCC v8

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.)


Locally Advanced Unresectable Primary Peritoneal Carcinoma

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.


Recurrent Primary Peritoneal Low Grade Serous Adenocarcinoma

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


Primary Peritoneal Transitional Cell Carcinoma

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


Platinum-Resistant Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that progresses between one and six months of completing the last platinum therapy.


Unresectable Primary Peritoneal Endometrioid Adenocarcinoma

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


Primary Peritoneal Undifferentiated Carcinoma

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.


Unresectable Primary Peritoneal Serous Adenocarcinoma

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


Recurrent Primary Peritoneal Transitional Cell Carcinoma

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


Stage IIIB Primary Peritoneal Cancer AJCC v7

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.)


Refractory Primary Peritoneal High Grade Serous Adenocarcinoma

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


Recurrent Primary Peritoneal Undifferentiated Carcinoma

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


Refractory Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that is resistant to treatment.


Recurrent Platinum-Sensitive Primary Peritoneal Carcinoma

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


Primary Peritoneal Cancer by AJCC v8 Stage

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


Primary Peritoneal Low Grade Serous Adenocarcinoma

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


Stage III Primary Peritoneal Cancer AJCC v8

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.)


Primary Peritoneal Cancer by AJCC v7 Stage

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


Unresectable Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that is not amenable to surgical resection.


Primary Peritoneal Endometrioid Adenocarcinoma

An exceedingly rare endometrioid adenocarcinoma arising from the peritoneum.


Recurrent Primary Peritoneal High Grade Serous Adenocarcinoma

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


Metastatic Primary Peritoneal Adenocarcinoma

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


Primary Peritoneal Adenocarcinoma

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


Stage IV Primary Peritoneal Cancer AJCC v7

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


Platinum-Refractory Primary Peritoneal Carcinoma

Primary peritoneal carcinoma that progresses during platinum therapy or within one month of completing the last platinum therapy.


Unresectable Primary Peritoneal Adenocarcinoma

Primary peritoneal adenocarcinoma that is not amenable to surgical resection.


Stage IVA Primary Peritoneal Cancer AJCC v8

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


Recurrent Primary Peritoneal Endometrioid Adenocarcinoma

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


Recurrent Primary Peritoneal Carcinoma

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


Recurrent Platinum-Resistant Primary Peritoneal Carcinoma

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


Refractory Primary Peritoneal Low Grade Serous Adenocarcinoma

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


Stage IIIA Primary Peritoneal Cancer AJCC v7

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.)


Refractory Primary Peritoneal Undifferentiated Carcinoma

Primary peritoneal undifferentiated carcinoma that is resistant to treatment.


Locally Advanced Primary Peritoneal Carcinoma

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


Stage IIIC Primary Peritoneal Cancer AJCC v8

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.)


Stage IIIA Primary Peritoneal Cancer AJCC v8

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.)


Recurrent Primary Peritoneal Serous Adenocarcinoma

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


Stage IIB Primary Peritoneal Cancer AJCC v8

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.)


Stage IVB Primary Peritoneal Cancer AJCC v8

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.)


Primary Peritoneal High Grade Serous Adenocarcinoma

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


Platinum-Sensitive Primary Peritoneal Carcinoma

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


Grade 4 Tricuspid Valve Disease, CTCAE

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

Life-threatening consequences; urgent intervention indicated (e.g., valve replacement, valvuloplasty)


Tricuspid Valve Disease, CTCAE

A disorder characterized by a defect in tricuspid valve function or structure.


Grade 5 Tricuspid Valve Disease, CTCAE

Death


Grade 2 Tricuspid Valve Disease, CTCAE

Asymptomatic; moderate regurgitation or stenosis by imaging


Grade 3 Tricuspid Valve Disease, CTCAE

Symptomatic; severe regurgitation or stenosis; symptoms controlled with medical intervention


Grade 1 Tricuspid Valve Disease, CTCAE

Asymptomatic valvular thickening with or without mild valvular regurgitation or stenosis


vascular cancer

A malignant neoplasm arising from the blood vessels.


great vessel cancer

A malignant neoplasm arising from the great vessels.


Malignant Inferior Vena Cava Neoplasm

A malignant neoplasm involving the inferior vena cava.


pulmonary artery choriocarcinoma

A rare choriocarcinoma that arises from a pulmonary artery.


Malignant Superior Vena Cava Neoplasm

A malignant neoplasm involving the superior vena cava.


superior vena cava leiomyosarcoma

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

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

A cancer that involves the aorta.


autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction


Metastatic Malignant Glomus Tumor

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


Locally Advanced Malignant Glomus Tumor

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


Unresectable Malignant Glomus Tumor

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


Refractory Malignant Glomus Tumor

A malignant glomus tumor that is resistant to treatment.


Scleral Disorder, CTCAE

A disorder characterized by involvement of the sclera of the eye.


Grade 3 Scleral Disorder, CTCAE

Symptomatic with marked decrease in visual acuity (best corrected visual acuity worse than 20/40 or more than 3 lines of decreased vision from known baseline, up to 20/200); limiting self care ADL


Grade 4 Scleral Disorder, CTCAE

Best corrected visual acuity of 20/200 or worse in the affected eye


Grade 1 Scleral Disorder, CTCAE

No change in vision from baseline


Grade 2 Scleral Disorder, CTCAE

Symptomatic; moderate decrease in visual acuity (best corrected visual acuity 20/40 and better or 3 lines or less decreased vision from known baseline); limiting instrumental ADL


sweat gland of eyelid

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

Glands of Moll, also known as ciliary glands, are modified apocrine sweat glands that are found on the margin of the eyelid. They are next to the base of the eyelashes, and anterior to the Meibomian glands within the distal eyelid margin. These glands are relatively large and tubular-shaped. The glands of Moll are named after Dutch oculist Jacob Anton Moll (1832-1914). Glands of Moll empty into the adjacent lashes. Glands of Moll and Zeis secrete lipid that adds to the superficial layer of the tear film, retarding evaporation. The glands of Moll are prone to infection and blockage of its duct with sebum and cell debris. Blockage of the gland's duct causes swelling which can manifest itself as a stye.


Stage III Fallopian Tube Cancer AJCC v6

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.)


Grade 2 Anal Fissure, CTCAE

Symptomatic


Anal Fissure, CTCAE

A disorder characterized by a tear in the lining of the anus.


Grade 1 Anal Fissure, CTCAE

Asymptomatic


Grade 3 Anal Fissure, CTCAE

Invasive intervention indicated


intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome


Stage IA2 Lung Cancer AJCC v8

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.)


ocular dysgenesis caused by defects in PAX6 regulation

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.


multidrug and toxin extrusion protein 1 isoform h2 (human)

A multidrug and toxin extrusion protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96FL8-2.


Metastatic Malignant Neoplasm in the Male Reproductive System

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


Secondary Prostate Urothelial Carcinoma

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


Metastatic malignant neoplasm to seminal vesicle

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


Metastatic malignant neoplasm to testis

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


Metastatic malignant neoplasm to epididymis

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


Metastatic malignant neoplasm to penis

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


Grade 4 Neck Infection NOS with Unknown Absolute Neutrophil Count, CTCAE


Grade 1 Peritoneal Cavity Intra-Operative Injury, CTCAE


tyrosine-protein phosphatase non-receptor type 1 methylated 2 (human)

A tyrosine-protein phosphatase non-receptor type 1 (human) that has been methylated on the residue at the position equivalent to Cys-121 of the amino acid sequence represented by UniProtKB:P18031. UniProtKB:P18031, Cys-121, MOD:00660.


tyrosine-protein phosphatase non-receptor type 1 phosphorylated 1 (human)

A tyrosine-protein phosphatase non-receptor type 1 (human) that has been phosphorylated at Tyr-66. UniProtKB:P18031, Tyr-66, MOD:00048.


tyrosine-protein phosphatase non-receptor type 1 methylated 1 (human)

A tyrosine-protein phosphatase non-receptor type 1 (human) that has been methylated on the residue at the position equivalent to Cys-426 of the amino acid sequence represented by UniProtKB:P18031. UniProtKB:P18031, Cys-426, MOD:00660.


A cholangiocarcinoma that has developed following infection with Opisthorchis viverrini.


Stage 0 Hilar Cholangiocarcinoma AJCC v8

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.)


Locally Advanced Distal Bile Duct Carcinoma

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


Stage IVB Intrahepatic Cholangiocarcinoma AJCC v7

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


Stage IA Intrahepatic Cholangiocarcinoma AJCC v8

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

Cholangiocarcinoma that is amenable to surgical resection.


Metastatic Bile Duct Carcinoma

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


Advanced Extrahepatic Bile Duct Carcinoma

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


Stage IVB Hilar Cholangiocarcinoma AJCC v8

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


Stage IB Distal Bile Duct Cancer AJCC v7

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.)


Localized Extrahepatic Bile Duct Carcinoma

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


Stage IIIB Hilar Cholangiocarcinoma AJCC v7

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.)


Hilar Cholangiocarcinoma by AJCC v7 Stage

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


Cholangiocarcinoma non-resectable

Cholangiocarcinoma that is not amenable to surgical resection.


Stage IVA Intrahepatic Cholangiocarcinoma AJCC v7

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

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


Clear Cell Intrahepatic Cholangiocarcinoma

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

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

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


Stage IIIC Hilar Cholangiocarcinoma AJCC v8

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.)


Unresectable Distal Bile Duct Adenocarcinoma

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


Recurrent Distal Bile Duct Adenocarcinoma

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


Extrahepatic Bile Duct Neuroendocrine Carcinoma

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. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma.


Stage I Hilar Cholangiocarcinoma AJCC v7

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.)


Locally Advanced Unresectable Cholangiocarcinoma

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


Stage IV Hilar Cholangiocarcinoma AJCC v8

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

Extrahepatic bile duct carcinoma that is amenable to surgical removal.


Locally Advanced Bile Duct Carcinoma

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


Metastatic cholangiocarcinoma

A cholangiocarcinoma that has metastasized to other anatomic sites.


Advanced Bile Duct Carcinoma

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.


Stage IVA Hilar Cholangiocarcinoma AJCC v7

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.)


Locally Advanced Intrahepatic Cholangiocarcinoma

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


Metastatic Distal Bile Duct Adenocarcinoma

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


intestinal type adenocarcinoma of extrahepatic bile duct

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

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


Stage III Intrahepatic Cholangiocarcinoma AJCC v8

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.)


Stage IV Distal Bile Duct Cancer AJCC v8

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


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


Stage III Intrahepatic Cholangiocarcinoma AJCC v7

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.)


Stage IIIA Distal Bile Duct Cancer AJCC v8

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

Bile duct carcinoma that is resistant to treatment.


Stage IIIB Intrahepatic Cholangiocarcinoma AJCC v8

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.)


The reemergence of intrahepatic cholangiocarcinoma after a period of remission.


Recurrent Extrahepatic Bile Duct Carcinoma

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


Refractory Extrahepatic Bile Duct Carcinoma

Extrahepatic bile duct carcinoma that is resistant to treatment.


anaplastic carcinoma of extrahepatic bile duct

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


Hilar Cholangiocarcinoma by AJCC v8 Stage

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.)


Stage 0 Intrahepatic Cholangiocarcinoma AJCC v7

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.)


Stage II Distal Bile Duct Cancer AJCC v8

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.)


Stage IVA Hilar Cholangiocarcinoma AJCC v8

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.)


Stage I Hilar Cholangiocarcinoma AJCC v8

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.)


Stage II Hilar Cholangiocarcinoma AJCC v8

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.)


Stage II Intrahepatic Cholangiocarcinoma AJCC v8

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.)


Bile Duct Papillary Neoplasm with an Associated Invasive Carcinoma

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.


Intrahepatic Cholangiocarcinoma by AJCC v8 Stage

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


Stage IV Intrahepatic Cholangiocarcinoma AJCC v8

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


Stage IIB Distal Bile Duct Cancer AJCC v7

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.)


Stage IIIA Hilar Cholangiocarcinoma AJCC v8

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.)


Distal Bile Duct Cancer by AJCC v8 Stage

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.)


Metastatic Extrahepatic Bile Duct Carcinoma

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


Extrahepatic Bile Duct Adenocarcinoma, Biliary Type

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


Stage IB Intrahepatic Cholangiocarcinoma AJCC v8

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.)


carcinosarcoma of extrahepatic bile duct

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


Stage IV Distal Bile Duct Cancer AJCC v7

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


Stage IIB Distal Bile Duct Cancer AJCC v8

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.)


Stage 0 Hilar Cholangiocarcinoma AJCC v7

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


Stage IA Distal Bile Duct Cancer AJCC v7

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.)


Locally Advanced Extrahepatic Bile Duct Carcinoma

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


Unresectable Bile Duct Carcinoma

Bile duct carcinoma that is not amenable to surgical resection.


Stage IIIB Distal Bile Duct Cancer AJCC v8

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.)


Stage IVB Hilar Cholangiocarcinoma AJCC v7

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.)


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


Extrahepatic Bile Duct Mixed Adenoneuroendocrine Carcinoma

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

Hilar cholangiocarcinoma that is not amenable to surgical resection.


Stage III Hilar Cholangiocarcinoma AJCC v8

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.)


Intrahepatic Cholangiocarcinoma by AJCC v7 Stage

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


Stage IIIA Intrahepatic Cholangiocarcinoma AJCC v8

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.)


Stage IIA Distal Bile Duct Cancer AJCC v8

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.)


Stage II Intrahepatic Cholangiocarcinoma AJCC v7

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.)


Refractory Distal Bile Duct Adenocarcinoma

Distal bile duct adenocarcinoma that is resistant to treatment.


Metastatic Distal Bile Duct Carcinoma

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


Extrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

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.


Intrahepatic cholangiocarcinoma that is amenable to surgical resection.


Stage IIA Distal Bile Duct Cancer AJCC v7

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

The reemergence of cholangiocarcinoma after a period of remission.


Small Duct Intrahepatic Cholangiocarcinoma

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


Stage 0 Intrahepatic Cholangiocarcinoma AJCC v8

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.)


Distal Bile Duct Cancer by AJCC v7 Stage

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


Intrahepatic cholangiocarcinoma that is resistant to treatment.


Extrahepatic Bile Duct Adenocarcinoma, Gastric Foveolar Type

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.


Intrahepatic cholangiocarcinoma that is not amenable to surgical removal.


Stage II Hilar Cholangiocarcinoma AJCC v7

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.)


Stage III Distal Bile Duct Cancer AJCC v7

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

Cholangiocarcinoma that has spread to nearby tissues or lymph nodes.


Stage I Intrahepatic Cholangiocarcinoma AJCC v8

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.)


Unresectable Extrahepatic Bile Duct Carcinoma

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


Stage IIIB Hilar Cholangiocarcinoma AJCC v8

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.)


Resectable Extrahepatic Bile Duct Adenocarcinoma

Extrahepatic bile duct adenocarcinoma that is amenable to surgical resection.


Stage IIIA Hilar Cholangiocarcinoma AJCC v7

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.)


Intrahepatic Bile Duct Intraductal Papillary Neoplasm with an Associated Invasive Carcinoma

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.


Stage I Intrahepatic Cholangiocarcinoma AJCC v7

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.)


Stage III Distal Bile Duct Cancer AJCC v8

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

Bile duct adenocarcinoma that is amenable to surgical resection.


Extrahepatic Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma

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

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

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

Cholangiocarcinoma that is resistant to treatment.


large cell neuroendocrine carcinoma of extrahepatic bile duct

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.


ectonucleotide pyrophosphatase/phosphodiesterase family member 2 isoform h2 (human)

An ectonucleotide pyrophosphatase/phosphodiesterase family member 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13822-2.


choroid spindle cell melanoma

A spindle cell melanoma that involves the optic choroid.


choroid epithelioid cell melanoma

A epithelioid cell melanoma that involves the optic choroid.


choroid necrotic melanoma

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


choroid mixed cell melanoma

A mixed cell uveal melanoma that involves the optic choroid.


intermediate cell type choroid melanoma

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


fumaric aciduria

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.


Ankle Injuries

Trauma to the ankle joint.


vertebral artery insufficiency

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.


Grade 4 Spleen Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


Anal Intraepithelial Neoplasia 2

Anal canal or perianal skin intraepithelial neoplasia with moderate dysplasia.


insulin receptor N-glycosylated 3 (rat)

An insulin receptor (rat) that has been N-glycosylated at the residue equivalent to Asn-921 of the amino acid sequence represented by UniProtKB:P15127-1, in which the glycan composition is represented by GlyTouCan:G31852PQ. Example: UniProtKB:P15127-1, Asn-921, MOD:00160~GNO:G31852PQ.


temporal lobe cancer

A cancer that involves the temporal lobe.


neoplasm of temporal lobe

A neoplasm (disease) that involves the temporal lobe.


immunoglobulin heavy constant epsilon N-glycosylated 29 (human)

An immunoglobulin heavy constant epsilon (human) that has been N-glycosylated at the residue equivalent to Asn-99 of the amino acid sequence represented by UniProtKB:P01854-2, in which the glycan structure is represented by GlyTouCan:G65219TP. Example: UniProtKB:P01854-2, Asn-99, MOD:00160~GNO:G65219TP.


Prostate Carcinoma Metastatic in the Bone

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


Breast Carcinoma Metastatic in the Bone

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


Breast Carcinoma Metastatic in the Spine

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


Plasma Cell Myeloma-Induced Bone Disease

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

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


syndromic disease

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


Sotos syndrome

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.


piriformis syndrome

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.


Ectopic Chorionic Gonadotropin Secretion Syndrome

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


yellow nail syndrome

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


Combined Immunodeficiencies Associated with Syndromic Features

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.


Joubert syndrome 3

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


Microscopic enteritis

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.


childhood myelodysplastic syndrome

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

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

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


Congenital Bone Marrow Failure Syndromes

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.


Myelodysplastic Syndrome with Monoallelic TP53 Mutation

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


opsoclonus-myoclonus syndrome

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.


Bernard-Soulier syndrome

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


BENTA disease

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.


familial cold autoinflammatory syndrome

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.


Familial Atypical Hemolytic Uremic Syndrome

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


diencephalic syndrome

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.


isotretinoin syndrome

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.


purine nucleoside phosphorylase deficiency

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.


Interferon Regulatory Factor 8 Deficiency

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

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


immunoglobulin heavy chain deficiency

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

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.


Myelodysplastic Syndrome with Genetic Abnormalities

Myelodysplastic syndrome characterized by the presence of defining genetic abnormalities.


pseudopseudohypoparathyroidism

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

An allergy to Penicillin.


Diamond-Blackfan anemia 5

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


complete trisomy 18

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


AESOP Syndrome

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


empty sella syndrome

Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person.


Postnatal Drug Withdrawal

Withdrawal signs and symptoms that present during the postnatal period and are caused by drug use by the pregnant mother.


STXBP2 Deficiency

A condition of decreased or absent presence of syntaxin-binding protein 2. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis type 5.


Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.


Fanconi anemia complementation group D1

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.


Gitelman syndrome

Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.


autoinflammatory syndrome

A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.


Weaver syndrome

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.


oculocerebrorenal syndrome

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.


Myelodysplastic Syndrome with Low Blasts

Myelodysplastic syndrome characterized by the presence of less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood.


Laurence-Moon syndrome

A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.


leukocyte adhesion deficiency 1

Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.


split hand-foot malformation 3

The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.


multicentric carpo-tarsal osteolysis with or without nephropathy

Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.


Sturge-Weber syndrome

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.


X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyzes show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.


PFAPA syndrome

An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.


A myelodysplastic syndrome resulting from chemotherapy or radiation therapy for cancer.


pseudohypoparathyroidism type 1A

A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).


chromosome 18p deletion syndrome

Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.


hereditary benign intraepithelial dyskeratosis

A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported.


Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas).


Blau syndrome

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.


ALG12-congenital disorder of glycosylation

A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).


chromosome 18q deletion syndrome

A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.


triple-A syndrome

Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.


Fanconi anemia complementation group B

Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.


Endogenous Cushing Syndrome

Cushing syndrome that is caused by excessive production of cortisol by the adrenal gland.


euthyroid sick syndrome

Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness.


Myelodysplastic Syndrome with Mutated SF3B1

Myelodysplastic syndrome characterized by mutation of SF3B1 gene. There is bone marrow dysplasia typically in one or more hematopoietic cell lineages. There are less than 5% blasts in bone marrow and less than 2% blasts in peripheral blood.


thalidomide embryopathy

A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.


autoimmune lymphoproliferative syndrome type 1

A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but variable penetrance. It is the most common subtype of autoimmune lymphoproliferative syndrome (ALPS). It is usually caused by a germline mutation in the Fas gene that leads to defective Fas-induced apoptosis but in a minority of cases, it also may be attributed to a somatic Fas mutation. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.


orofaciodigital syndrome I

A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.


tooth and nail syndrome

Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.


X-linked retinoschisis

A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.


long QT syndrome 12

Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.


tarsal tunnel syndrome

Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome.


Ehlers-Danlos syndrome

The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.


Bilateral Diffuse Uveal Melanocytic Hyperplasia

A paraneoplastic syndrome characterized by diffuse proliferation of benign melanocytes in the uvea, in patients with an underlying extraocular malignancy. (WHO 2018)


The reemergence of hemophagocytic lymphohistiocytosis after a period of remission.


neoplastic syndrome

A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.


UV-sensitive syndrome 1

Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene.


Aicardi-Goutieres syndrome 5

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.


immunodeficiency 11b with atopic dermatitis

An autosomal dominant condition caused by mutation(s) in the CARD11 gene, encoding caspase recruitment domain-containing protein 11. It is characterized by the onset of moderate to severe atopic dermatitis in early childhood, defects in T-cell activation, increased IgE, and eosinophilia.


autosomal dominant Kenny-Caffey syndrome

An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.


osteoporosis-pseudoglioma syndrome

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.


autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.


congenital myasthenic syndrome 11

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.


hyper-IgM syndrome type 1

The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.


spondyloepimetaphyseal dysplasia, sponastrime type

A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.


ataxia telangiectasia

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.


Multiple endocrine neoplasia Type 2

Multiple endocrine neoplasia caused by mutation of the RET gene. It includes the following neoplastic processes: multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and hereditary thyroid gland medullary carcinoma.


47,XYY syndrome

47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.


Crigler-Najjar syndrome

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.


TERC Deficiency

A condition of decreased or absent presence of telomerase RNA component. Deficiency of telomerase RNA component is associated with autosomal dominant dyskeratosis congenita 1, telomere-related pulmonary fibrosis, and bone marrow failure 2.


COVID-19–associated multisystem inflammatory syndrome in children

A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms.


Freeman-Sheldon syndrome

A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.


Hallermann-Streiff syndrome

Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.


Renpenning syndrome

An X-linked syndrome characterized by intellectual deficiency, microcephaly, leanness and mild short stature.


Chediak-Higashi syndrome

ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.


aneurysm-osteoarthritis syndrome

Loeys-Dietz syndrome caused by mutation(s) in the SMAD3 gene, encoding mothers against decapentaplegic homolog 3.


Bartter disease type 1

An autosomal recessive subtype of Bartter syndrome caused by mutation(s) in the SLC12A1 gene, encoding solute carrier family 12 member 1.The onset occurs in the antenatal period, and may be characterized by polyhydramnios, premature birth, failure to thrive and mental retardation. Clinical variability in the severity of symptoms exists and an essential feature of antenatal forms of Bartter syndrome is marked hypercalciuria.


ectodermal dysplasia and immune deficiency

A rare disorder caused by mutations either in the IKBKG gene resulting in an X-linked recessive inheritance pattern or in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections.


Organic mood disorder

A mental disorder caused by intrinsic disease which is characterized by persistent alterations in mood that are directly attributable to the disease itself rather than a response to knowledge of the disease or other co-morbidity. It may be broadly classified as a depressive or bipolar disorder due to a general medical condition.


Ehlers-Danlos syndrome, classic type, 1

Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.


Menkes disease

A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.


Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.


Refractory Celiac Disease

Celiac disease characterized by persistent and recurrent symptoms of malabsorption and villous atrophy in patients who adhere strictly to a gluten-free diet for at least six to twelve months. It is classified as type I or II.


Tolosa-Hunt syndrome

Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others.


Alkylating Agent-Related Myelodysplastic Syndrome

A disorder seen following cancer chemotherapy. It is the most common cause of therapy-related myelodysplastic syndromes. It typically manifests several years after initiation of single or multi-agent chemotherapy with alkylators. Mutagenic potential of alkylating agents is believed to be age and cumulative dose-dependent. Deletions in chromosomes 5 and 7 are associated with susceptibility to this disorder. Clinical signs may include fatigue, dyspnea, bruising and frequent infections. Clinical course may progress to bone marrow failure or acute myeloid leukemia that is refractory to treatment. Prognosis is dismal with survivability usually less than one year.


chromosome 1p36 deletion syndrome

A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.


holoprosencephaly 4

A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.


familial hemophagocytic lymphohistiocytosis type 1

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.


hypogonadotropic hypogonadism 1 with or without anosmia

The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3.


Immunodeficiencies Affecting Cellular and Humoral Immunity - Combined Immune Deficiency

A group of immunodeficiency disorders that include combined immunodeficiencies (CIDs) generally less profound than SCID.


Myelodysplastic Syndrome with TP53 Inactivation

Myelodysplastic syndrome characterized by the presence of TP53 gene inactivating alterations. They include monoallelic or biallelic TP53 gene mutations or one TP53 gene mutation and concurrent copy loss of TP53.


chronic granulomatous disease

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.


SAMD9-Associated Hereditary Myelodysplastic Syndrome

A familial myelodysplastic syndrome caused by inherited mutations in the SAMD9 gene.


inborn error of immunity

A disorder in which the immune system is unable to mount an adequate immune response.


Refractory Neutropenia

A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic neutrophils in the bone marrow or the peripheral blood.


nail-patella syndrome

A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.


Feminization

The development of secondary female sex characteristics in males.


muscular dystrophy-dystroglycanopathy, type A

A rare autosomal recessive inherited muscular dystrophy. It presents with generalized hypotonia, muscle weakness, mental retardation, developmental delays, and brain and eye abnormalities.


Plummer-Vinson syndrome

Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs.


Rienhoff syndrome

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.


Fraser syndrome

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.


X-linked lymphoproliferative disease due to XIAP deficiency

A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.


trichothiodystrophy 3, photosensitive

An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the GTF2H5 gene, encoding general transcription factor IIH subunit 5.


Somnolence syndrome

An uncommon subacute encephalopathy seen following cranial irradiation for cerebral neoplasms. Clinical signs manifest several weeks after treatment and include drowsiness, fatigue, lethargy and slowed mental processing. Clinical course is usually benign, self-limited and independent of radiotherapy dose.


EEC syndrome

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).


Jackson-Weiss syndrome

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.


cold-induced sweating syndrome 2

Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene.


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.


capillary malformation-arteriovenous malformation syndrome

This syndrome is characterized by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.


Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.


Myelodysplastic Syndrome/Acute Myeloid Leukemia, Not Otherwise Specified

Myelodysplastic syndrome/acute myeloid leukemia in which there is no information on myelodysplasia-related gene mutations and cytogenetic abnormalities.


FG syndrome 1

Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.


mixed connective tissue disease

Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms.


ectopic ACTH secretion syndrome

A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott)


Cowden disease

A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.


Myelodysplastic Syndrome with Biallelic TP53 Mutation

Myelodysplastic syndrome characterized by the presence of biallelic TP53 gene mutations. It is associated with a poor prognosis.


mucopolysaccharidosis type 3D

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.


Multisystem inflammatory syndrome in adults

A rare syndrome found in adults with positive test results for SARS-CoV-2 by polymerase chain reaction or antibody assays indicating recent infection that is marked by cardiovascular, gastrointestinal, dermatologic, and neurologic symptoms without severe respiratory illness. The most common signs and symptoms that have been reported to date include fever, low blood pressure, abdominal pain, vomiting, diarrhea, neck pain, rash, chest pain, and tiredness not attributable to other infections.


Iatrogenic Contrasexual Pubertal Development

Contrasexual pubertal development caused by medical intervention.


Atypical Hemolytic Uremic Syndrome-4

An autosomal dominant subtype of atypical hemolytic uremic syndrome caused by mutation(s) in the CFB gene, encoding complement factor B.


Angelman syndrome

A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.


Vici syndrome

A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.


complement component C1r/C1s deficiency

Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.


Iatrogenic Cushing's disease

Cushing syndrome as a result of increased glucocorticoids due to medical therapy.


multiple endocrine neoplasia type 4

An autosomal dominant tumor syndrome caused by germline CDKN1B mutations that result in a phenotype similar to that of multiple endocrine neoplasia type 1, characterized by endocrine neoplasms, particularly in the parathyroid glands, pituitary, and pancreas. (WHO 2017)


Childhood Myelodysplastic Syndrome with Low Blasts, Hypocellular

Childhood myelodysplastic syndrome with low blasts that is characterized by bone marrow hypocellularity.


complement component 5 deficiency

A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.


Perinatal jaundice due to inspissated bile syndrome

Yellow pigmentation of the skin, mucous membranes and eyes due to hyperbilirubinemia caused by inspissated bile plugs in the bile ducts during the perinatal period.


Andersen-Tawil syndrome

Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.


Retroperitoneal Pain Syndrome

A pain syndrome characterized by epigastric and mid-back pain, typically experienced as a dull or aching pain. Frequent causes include pancreatic cancer and retroperitoneal lymphadenopathy.


Adult Myelodysplastic Syndrome

Myelodysplastic syndrome that occurs in adulthood.


arakawa syndrome 2

A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.


ring chromosome 20

Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.


7q11.23 microduplication syndrome

7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.


Beare-Stevenson cutis gyrata syndrome

A severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.


Froelich syndrome

Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today.


Ectopic renin secretion

A syndrome characterized by abnormal secretion of renin in conjunction with neoplastic growth occurring anywhere in the body.


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2

An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.


Cenani-Lenz syndactyly syndrome

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.


mucopolysaccharidosis type 3

Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterized by severe and rapid intellectual deterioration.


brown-Vialetto-van Laere syndrome 2

Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene.


Aicardi-Goutieres syndrome 1

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene.


Recurrent Neurofibromatosis Type 1

The reemergence of neurofibromatosis type 1 after a period of remission.


Miller Fisher syndrome

An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia.


DOCK2 deficiency

An autosomal recessive combined immunodeficiency caused by mutation(s) in the DOCK2 gene, encoding dedicator of cytokinesis protein 2. It is characterized by combined immunodeficiency, primarily affecting T-cells, with more variable defects in B-cell and NK-cell function, resulting in viral and bacterial infections that may lead to death in severe cases.


Brown-Sequard syndrome

Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause.


inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.


Ehlers-Danlos syndrome, musculocontractural type 1

An autosomal recessive form of Ehlers-Danlos syndrome caused by mutation(s) in the CHST14 gene, encoding carbohydrate sulfotransferase 14.


common variable immunodeficiency 8

An autosomal recessive common variable immunodeficiency caused by mutation(s) in the LRBA gene, encoding lipopolysaccharide-responsive and beige-like anchor protein. It is characterized by recurrent infections and the development of autoimmune disorders.


exfoliation syndrome

An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.


Aicardi-Goutieres syndrome 2

Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene.


complement component 2 deficiency

Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.