Stage IB Mycosis Fungoides AJCC v7

Stage IB includes: T2, N0, M0, B0-1. T2: Patches, papules, or plaques covering 10% or more of the skin surface.  May further stratify into T2a (patch only) vs. T2b (plaque +/- patch).  N0: No clinically abnormal peripheral lymph nodes; biopsy not required.  M0: No visceral organ involvement.  B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells).  B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2.  (AJCC 7th ed.)


Acute Adult T-Cell Leukemia/Lymphoma

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The most common variant of adult T-cell leukemia/lymphoma.  It is characterized by systemic disease with a leukemic phase, generalized lymphadenopathy, and skin lesions.  Hypercalcemia is commonly seen.


Ann Arbor Stage II Adult Contiguous Immunoblastic Lymphoma

Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)


Refractory Diffuse Large B-Cell Lymphoma Activated B-Cell Type

Diffuse large B-cell lymphoma activated B-cell type that is resistant to treatment.


Angiocentric lymphoma stage II

Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).


Recurrent B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Classic Hodgkin Lymphoma

The reemergence of B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and classic Hodgkin lymphoma after a period of remission.


Recurrent Diffuse Large B-Cell Lymphoma Activated B-Cell Type

The reemergence of diffuse large B-cell lymphoma activated B-cell type after a period of remission.


adult nodular lymphocyte predominant Hodgkin lymphoma

A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults.


Lacrimal Drainage System Mucosa-Associated Lymphoid Tissue Lymphoma

A mucosa-associated lymphoid tissue lymphoma that arises from the lacrimal sac.


Non-Hodgkin Breast Lymphoma

A non-Hodgkin lymphoma that arises from the breast.  There is no history of extramammary breast non-Hodgkin lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast non-Hodgkin lymphoma.  Most patients present with a painless breast lump.  The vast majority of cases are B-cell non-Hodgkin lymphomas.  Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast.


Common Variant Anaplastic Large Cell Lymphoma

An anaplastic large cell lymphoma, characterized by CD30 positive lymphoid cells.


Mycosis fungoides/Sezary syndrome stage II

Stage II includes: IIA (T1-2, N1-2, M0, B0-1); IIB (T3, N0-2, M0, B0-1). T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface.  May further stratify into T1a (patch only) vs. T1b (plaque +/- patch).  T2: Patches, papules, or plaques covering 10% or more of the skin surface.  May further stratify into T2a (patch only) vs. T2b (plaque +/- patch).  T3: One or more tumors (equal or greater than 1 cm diameter).  N0: No clinically abnormal peripheral lymph nodes; biopsy not required.  N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2.  N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3.  M0: No visceral organ involvement.  B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells).  B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2.  (AJCC 7th ed.)


Diffusion Restriction

A radiologic finding seen as high-signal intensity on diffusion weighted imaging with corresponding reduced apparent diffusion coefficient (ADC) values. ADC is a measurement of the diffusion of water molecules in a given tissue.


Parotid Gland Non-Hodgkin Lymphoma

A non-Hodgkin lymphoma that arises from the parotid gland.  Representative examples include mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma.


Waldenstrom macroglobulinemia with serum IgM monoclonal protein equal or more than 3 g/dL and/or at least 10% bone marrow lymphoplasmacytic infiltration but no evidence of constitutional symptoms, symptomatic anemia, or hyperviscosity. (Blood 2008, 112:2709)


lymphoblastic lymphoma

A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma.


Recurrent High Grade B-Cell Lymphoma

The reemergence of high grade B-cell lymphoma after a period of remission.


BN2 diffuse large B-cell lymphoma

A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding.


Follicular Lymphoma by Ann Arbor Stage

An anatomic stage for follicular lymphoma based on the Ann Arbor classification criteria.


Stage III Non-Hodgkin Lymphoma

Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).


Extranodal marginal zone B-cell lymphoma (MALT type) stage II

Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue presenting as stage II disease.


Extranodal marginal zone B-cell lymphoma (MALT type) refractory

Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that is resistant to treatment.


EBV-Related Burkitt Lymphoma

Burkitt lymphoma that is caused by Epstein-Barr virus infection.


Refractory Transformed Non-Hodgkin Lymphoma

An indolent non-Hodgkin lymphoma which has undergone histologic transformation to an aggressive non-Hodgkin lymphoma and has become resistant to treatment.


Follicular lymphoma stage II

Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).


Diffuse Large B-Cell Lymphoma by Ann Arbor Stage

An anatomic stage for diffuse large B-cell lymphoma based on the Ann Arbor classification criteria.


Ann Arbor Stage I Supradiaphragmatic Nodular Lymphocyte Predominant Hodgkin Lymphoma


Burkitt Lymphoma Post-Transplant Lymphoproliferative Disorder

A Burkitt lymphoma that arises in a patient with a history of organ transplantation.


Angioimmunoblastic T-cell lymphoma stage II


folliculotropic mycosis fungoides

Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area.


Refractory Plasmablastic Lymphoma

Plasmablastic lymphoma that is resistant to treatment.


Recurrent Transformed Follicular Lymphoma to Diffuse Large B-Cell Lymphoma

The reemergence of transformed follicular lymphoma to diffuse large B-cell lymphoma after a period of remission.


Nasopharyngeal Non-Hodgkin Lymphoma

A non-Hodgkin lymphoma that arises from the nasopharynx.


Ann Arbor Stage II Contiguous Adult Aggressive Non-Hodgkin Lymphoma

Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)


AIDS-Related Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System

A diffuse large B-cell lymphoma that arises from the central nervous system in AIDS patients.


ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK).


Mature T- and NK-Cell Lymphoma by Ann Arbor Stage

An anatomic stage for mature T- and NK-cell non-Hodgkin lymphomas based on the Ann Arbor classification criteria.


Mantle Cell Lymphoma by Ann Arbor Stage

An anatomic stage for mantle cell lymphoma based on the Ann Arbor classification criteria.


Angioimmunoblastic T-cell lymphoma stage I

Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).


Primary Uveal Non-Hodgkin Lymphoma

An indolent, low-grade B-cell non-Hodgkin lymphoma that arises from the choroid, iris, or ciliary body. It is characterized by the presence of a diffuse infiltrate of small, round lymphocytes. Lymphoid follicles with germinal centers may be present. In the past these tumors were termed 'reactive lymphoid hyperplasia'. Now they are considered low-grade B-cell lymphomas, most commonly extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue.


Stage III Indolent Adult Non-Hodgkin Lymphoma

Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).


Centroblastic lymphoma recurrent

The reemergence of centroblastic lymphoma after a period of remission.


Stage IB Mycosis Fungoides and Sezary Syndrome AJCC v8

Stage IB includes: T2, N0, M0, B0,1. T2: Patches, papules, or plaques covering 10% or more of the skin surface. N0: No clinically abnormal peripheral lymph nodes; biopsy not required. M0: No visceral organ involvement. B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells). B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2. (AJCC 8th ed.)


Ann Arbor Stage IV Mature T- and NK-Cell Lymphoma

Ann Arbor Classification: Stage IV: Diffuse or disseminated involvement of one or more extralymphatic organs, with or without associated lymph node involvement; or isolated extralymphatic organ involvement in the absence of adjacent regional lymph node involvement, but in conjunction with disease in distant site(s); or any involvement of the liver or bone marrow, lungs (other than by direct extension from another site), or cerebrospinal fluid.


Mycosis fungoides refractory

Mycosis fungoides resistant to treatment.


Stage IIB Mycosis Fungoides and Sezary Syndrome AJCC v7

Stage IIB includes: T3, N0-2, M0, B0-1.  T3: One or more tumors (equal or greater than 1 cm diameter).  N0: No clinically abnormal peripheral lymph nodes; biopsy not required.  N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2.  N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3.  M0: No visceral organ involvement.  B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells).  B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2.  (AJCC 7th ed.)


Primary Systemic Anaplastic Large Cell Lymphoma, ALK-Positive

A T-cell peripheral lymphoma affecting multiple anatomic sites. It is composed of usually large, pleomorphic, CD30 positive T-lymphocytes with abundant cytoplasm. It is characterized by the presence of a translocation involving the ALK gene and expression of ALK fusion protein.


Nodal Peripheral T-Cell Lymphoma of T Follicular Helper Cell Origin

A subset of node-based peripheral T-cell lymphomas with phenotypic features of T follicular helper (TFH) cells. This category includes angioimmunoblastic T-cell lymphomas, follicular T-cell lymphomas, and nodal peripheral T-cell lymphomas with T follicular helper phenotype.


Recurrent Nodal Peripheral T-Cell Lymphoma with TFH Phenotype

The reemergence of nodal peripheral T-cell lymphoma with TFH phenotype after a period of remission.


splenic mantle cell lymphoma

A mantle cell lymphoma occurring in the spleen.


Recurrent Transformed Marginal Zone Lymphoma to Diffuse Large B-Cell Lymphoma

The reemergence of diffuse large B-cell lymphoma that resulted from the transformation of marginal zone lymphoma, after a period of remission.


Recurrent Burkitt Lymphoma

The reemergence of Burkitt lymphoma after a period of remission.


Prostate Diffuse Large B-Cell Lymphoma

A rare diffuse large B-cell lymphoma that arises from the prostate gland.


Monomorphic epitheliotropic intestinal T-cell lymphoma

A mature T-cell and NK-cell non-Hodgkin lymphoma of intraepithelial T-lymphocytes. It usually arises from the small intestine. A minority of cases arise from the large intestine or the stomach. It is characterized by the presence of a monomorphic cellular infiltrate of small to medium-sized T-lymphocytes that are cytotoxic and express CD56. It is not associated with celiac disease.


large B-cell diffuse lymphoma of salivary gland

A diffuse large B-cell lymphoma that manifests initially in a salivary gland. It usually occurs in the parotid gland.


Ann Arbor Stage II Grade 1 Follicular Lymphoma

Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).


Childhood Anaplastic Large Cell Lymphoma

An anaplastic large cell lymphoma that occurs during childhood.


Anaplastic Lymphoma Post-Transplant Lymphoproliferative Disorder

An anaplastic lymphoma that arises in a patient with a history of organ transplantation.


Stage IV Indolent Adult Non-Hodgkin Lymphoma


enteropathy-associated T-cell lymphoma

An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease.


Ann Arbor Stage III Grade 3 Follicular Lymphoma

Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).


T-cell lymphoma stage II

Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE). The number of regions involved may be indicated by a subscript (e.g., II3).


Refractory Primary Cutaneous Anaplastic Large Cell Lymphoma

Primary cutaneous anaplastic large cell lymphoma that is resistant to treatment.


nodular lymphocyte predominant Hodgkin lymphoma

A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008)


Sezary syndrome refractory

Sezary syndrome that is resistant to treatment.


follicular lymphoma of spleen

A follicular lymphoma occurring in the spleen.


Refractory Transformed Follicular Lymphoma to Diffuse Large B-Cell Lymphoma

Transformed follicular lymphoma to diffuse large B-cell lymphoma that is resistant to treatment.


central nervous system anaplastic large cell lymphoma

An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord.


Ann Arbor Stage II Grade 1 Contiguous Follicular Lymphoma


Lacrimal Gland Mucosa-Associated Lymphoid Tissue Lymphoma

A mucosa-associated lymphoid tissue lymphoma that arises from the lacrimal gland.


Hodgkin-Like Adult T-Cell Leukemia/Lymphoma

'Hodgkin-like T-cell leukemia/lymphoma occurring in adults.


Angioimmunoblastic T-Cell Lymphoma by Ann Arbor Stage

An anatomic stage for angioimmunoblastic T-cell lymphoma based on the Ann Arbor classification criteria.


Triple hit lymphoma

A rare B-cell non-Hodgkin lymphoma that is characterized by the abnormal rearrangement of MYC gene, BCL2 gene, and BCL6 gene. Patients with this type of lymphoma usually respond poorly to standard treatments and have a poor prognosis.


Waldenstrom macroglobulinemia that does not respond to treatment.


Ann Arbor Stage III Aggressive Adult Non-Hodgkin Lymphoma


Blastoid Variant Mantle Cell Lymphoma

An aggressive mantle cell lymphoma characterized by the presence of neoplastic B-lymphocytes resembling lymphoblasts.


thyroid gland diffuse large B-cell lymphoma

A diffuse large B-cell lymphoma primarily involving the thyroid gland.


Ann Arbor Stage I Grade 2 Follicular Lymphoma

Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).


Precursor B-lymphoblastic lymphoma stage III


Ann Arbor Stage II Grade 2 Contiguous Follicular Lymphoma

Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).


localized pagetoid reticulosis

A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported.


Refractory Systemic Anaplastic Large Cell Lymphoma

Systemic anaplastic large cell lymphoma that does not respond to treatment.


Primary Vitreoretinal Non-Hodgkin Lymphoma

An uncommon and potentially fatal intraocular non-Hodgkin lymphoma that involves the uvea, retina, vitreous body, and optic nerve. It is a subset of primary central nervous system non-Hodgkin lymphoma. The majority of cases are diffuse large B-cell lymphomas.


grade 3B follicular lymphoma

A grade 3 follicular lymphoma composed of solid sheets of centroblasts.


Recurrent Hepatosplenic T-Cell Lymphoma

The reemergence of hepatosplenic T-cell lymphoma after a period of remission.


Grade III Lymphomatoid Granulomatosis

Lymphomatoid granulomatosis characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation.  Necrotic changes are present and are usually extensive.  Grade III lymphomatoid granulomatosis should be approached clinically as a subtype of diffuse large B-cell lymphoma.


Adult Systemic Anaplastic Large Cell Lymphoma

An anaplastic large cell lymphoma affecting multiple anatomic sites and occurring in adults.


Predominantly Diffuse Follicular Lymphoma with 1p36 Deletion

A predominantly diffuse, low-grade follicular lymphoma. It often presents as a large localized inguinal mass, lacks BCL2 rearrangement, and is associated with 1p36 deletion.


Colon Diffuse Large B-Cell Lymphoma

A diffuse large B-cell lymphoma that arises from the colon.  It is the most frequent type of lymphoma found in the colon.


Mycosis fungoides stage I

Stage I includes: IA (T1, N0, M0, B0-1); IB (T2, N0, M0, B0-1). T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface.  May further stratify into T1a (patch only) vs. T1b (plaque +/- patch).  T2: Patches, papules, or plaques covering 10% or more of the skin surface.  May further stratify into T2a (patch only) vs. T2b (plaque +/- patch).  N0: No clinically abnormal peripheral lymph nodes; biopsy not required.  M0: No visceral organ involvement.  B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells).  B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2.  (AJCC 7th ed.)


Stage III Childhood Anaplastic Large Cell Lymphoma

Ann Arbor Classification: Stage III: Involvement of lymph node regions on both sides of the diaphragm (III), which also may be accompanied by extralymphatic extension in association with adjacent lymph node involvement (IIIE) or by involvement of the spleen (IIIS) or both (IIIE,S).


Nodal marginal zone B-cell lymphoma stage II


Childhood Immunoblastic Lymphoma

An immunoblastic lymphoma (a variant of diffuse large B-cell lymphoma) occurring in children.


Prostate Mantle Cell Lymphoma

A rare mantle cell lymphoma that arises from the prostate gland.


The reemergence of lymphoplasmacytic lymphoma after a period of remission.


Refractory Transformed T-cell Non-Hodgkin Lymphoma

An indolent T-cell non-Hodgkin lymphoma which has undergone histologic transformation to an aggressive T-cell non-Hodgkin lymphoma and has become resistant to treatment.


Non-Hodgkin Lymphoma by Ann Arbor Stage

An anatomic stage for non-Hodgkin lymphomas based on the Ann Arbor classification criteria.


Stage IVB Mycosis Fungoides and Sezary Syndrome AJCC v7

Stage IVB includes: T1-4, N0-3, M1, B0-2. T1: Limited patches, papules, and/or plaques covering less than 10% of the skin surface.  May further stratify into T1a (patch only) vs. T1b (plaque +/- patch).  T2: Patches, papules, or plaques covering 10% or more of the skin surface.  May further stratify into T2a (patch only) vs. T2b (plaque +/- patch).  T3: One or more tumors (equal or greater than 1 cm diameter).  T4: Confluence of erythema covering 80% or more of body surface area.  N0: No clinically abnormal peripheral lymph nodes; biopsy not required.  N1: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 1 or NCI LN0-2.  N2: Clinically abnormal peripheral lymph nodes; histopathology Dutch grade 2 or NCI LN3.  N3: Clinically abnormal peripheral lymph nodes; histopathology Dutch grades 3-4 or NCI LN4; clone positive or negative.  M1: Visceral involvement (must have pathology confirmation and organ involved should be specified).  B0: Absence of significant blood involvement: 5% or less of peripheral blood lymphocytes are atypical (Sezary cells).  B1: Low blood tumor burden: more than 5% of peripheral blood lymphocytes are atypical (Sezary cells) but does not meet the criteria of B2.  B2: High blood tumor burden: 1000/microL Sezary cells or more with positive clone.  (AJCC 7th ed.)


Lymphoplasmacytoid lymphoma/immunocytoma stage III


Refractory Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma

Mature T-cell and NK-cell non-Hodgkin Lymphoma that is resistant to treatment.


AIDS-Related Non-Hodgkin Lymphoma of the Cervix

A non-Hodgkin lymphoma that arises from the cervix in a patient with acquired immunodeficiency syndrome.


Liver Mucosa-Associated Lymphoid Tissue Lymphoma

A rare mucosa-associated lymphoid tissue lymphoma that arises from the liver.  It is characterized by the presence of centrocyte-like cells surrounding germinal centers.  Lymphoepithelial lesions involving the bile duct epithelium may also be present.


Mature B-Cell Non-Hodgkin Lymphoma

A non-Hodgkin lymphoma that originates from mature B lymphocytes. Representative examples include diffuse large B-cell lymphoma, follicular lymphoma, marginal zone lymphoma, mantle cell lymphoma, and small lymphocytic lymphoma.


small cell variant anaplastic large cell lymphoma

A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei.


Ann Arbor Stage II Non-Contiguous Mantle Cell Lymphoma

Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II) or localized involvement of a single associated extralymphatic organ or site and its regional lymph nodes with or without other lymph node regions on the same side of the diaphragm (IIE). Note: The number of lymph node regions involved may be indicated by a subscript (e.g., II3). (from PDQ)


Ann Arbor Stage I Aggressive Adult Non-Hodgkin Lymphoma

Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE).


Refractory B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Classic Hodgkin Lymphoma

B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and classic Hodgkin lymphoma that is resistant to treatment.


Anaplastic large cell lymphoma T- and null-cell types refractory

Anaplastic large cell lymphoma resistant to treatment.


Mediastinal Non-Hodgkin Lymphoma

Non-Hodgkin lymphoma arising from the mediastinum.


Chlamydia Psittaci-Associated Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma

Mucosa-associated lymphoid tissue lymphoma that arises from the ocular adnexa and caused by stimulation of lymphoid tissue due to Chlamydia psittaci bacterial infection.


Colorectal Burkitt Lymphoma

A rare Burkitt lymphoma that arises from the colon or rectum.


Recurrent Systemic Anaplastic Large Cell Lymphoma

The reemergence of systemic anaplastic large cell lymphoma after a period of remission.


Colon Mantle Cell Lymphoma

A mantle cell lymphoma that arises from the colon.  It often presents as a polypoid lesion.


Smoldering Adult T-Cell Leukemia/Lymphoma

An adult T-cell leukemia/lymphoma characterized by less than 5% neoplastic lymphocytes in the peripheral blood, absence of lymphadenopathy and hypercalcemia, and occasional skin or pulmonary lesions.


follicular malignant lymphoma of breast

A follicular lymphoma that arises from the breast as a primary tumor.


Charcot-Marie-Tooth disease X-linked recessive 3

X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.


Charcot-Marie-Tooth disease type X

A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.


Charcot-Marie-Tooth disease X-linked recessive 4

X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.


Charcot-Marie-Tooth disease X-linked recessive 5

X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.


Charcot-Marie-Tooth disease X-linked dominant 1

Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.


Charcot-Marie-Tooth disease X-linked recessive 2

X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.


Charcot-Marie-Tooth disease X-linked dominant 6

X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).


statin (semi-synthetic)

A statin that is derived from a naturally occurring statin by partial chemical synthesis.


hippocampal sclerosis of aging

Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus


Benign cyst of ovary

A non-malignant ovarian cyst.


corpus luteum cyst

A ovarian cyst (disease) that involves the corpus luteum.


Large Solitary Luteinized Follicle Cyst of Ovary

A large, unilateral, solitary ovarian cyst lined by luteinized cells, occurring during pregnancy or puerperium. (WHO 2020)


Complex ovarian cyst

A cystic lesion that arises from the ovary. It is characterized by the presence of cystic spaces that contain fluid and a solid tissue component.


Unilocular Ovarian Cyst

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

An ovarian cyst that has a single compartment.


Follicular cyst of ovary

A benign ovarian cyst that develops from a persistent, unruptured Graafian follicle, which grows larger than three centimeters.


Autonomous Ovarian Follicular Cyst

A cyst arising from an ovarian follicle that produces hormones independent of gonadotropin stimulation.


Functional cyst of ovary

A benign ovarian cyst that develops and regresses during the menstrual cycle as part of normal ovarian function.


saturated organic heteromonocyclic parent


carbonic anhydrase 2 isoform 1 (rat)

A vertebrate-type carbonic anhydrase 2 isoform 1 that is encoded in the genome of rat.


Grade 3 Vision Decreased, CTCAE

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)


FIGO Stage IIIB Ovarian Cancer

Ovarian cancer with macroscopic, extrapelvic, peritoneal metastasis equal or less than 2 cm +/- positive retroperitoneal lymph nodes. Includes extension to capsule of liver/spleen. (FIGO, 2014)


Grade 3 Stomach Intra-Operative Injury, CTCAE


Recurrent T Acute Lymphoblastic Leukemia

The reemergence of T-acute lymphoblastic leukemia after a period of remission.


Recurrent Childhood T Acute Lymphoblastic Leukemia

The reemergence of T-acute lymphoblastic leukemia in childhood after a period of remission.


Grade 2 Paronychia, CTCAE

Local intervention indicated; oral intervention indicated (e.g., antibiotic, antifungal, antiviral); nail fold edema or erythema with pain; associated with discharge or nail plate separation; limiting instrumental ADL


Grade 1 Stoma GI Stricture or Stenosis, CTCAE


gamma-aminobutyric acid receptor subunit alpha-1 isoform 1 (mouse)

A gamma-aminobutyric acid receptor subunit alpha-1 isoform 1 that is encoded in the genome of mouse.


gamma-aminobutyric acid receptor subunit alpha-1 isoform 1 (rat)

A gamma-aminobutyric acid receptor subunit alpha-1 isoform 1 that is encoded in the genome of rat.


A frizzled-like G-protein coupled receptor that is a translation product of the human FZD8 gene or a 1:1 ortholog thereof.


frizzled-8, signal peptide removed ubiquitinated form (human)

A frizzled-8 (human) that has had the signal peptide removed and that includes at least one ubiquitinated lysine. UniProtKB:Q9H461, 28-694, MOD:01148.


frizzled-8, signal peptide removed form (human)

A frizzled-8 (human) that has had the signal peptide removed. UniProtKB:Q9H461, 28-694.


microtubule-associated protein tau isoform Tau-F phosphorylated 1 (human)

A microtubule-associated protein tau isoform Tau-F phosphorylated 1 in human. UniProtKB:P10636-8, Thr-181, MOD:00047.


Rothmund-Thomson syndrome type 1

Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.


Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.


Rothmund-Thomson syndrome type 2

Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.


FLVCR1-related retinopathy with or without ataxia

A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.


posterior column ataxia-retinitis pigmentosa syndrome

Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.


Mononegavirales infectious disease

Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections.


mumps infectious disease

A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease.


parainfluenza virus type 2 infectious disease

A disease caused by infection with parainfluenza virus type 2.


fetal parainfluenza virus type 3 syndrome

A syndrome caused by HPIV-3.


parainfluenza virus type 3 infectious disease

Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections.


henipavirus infectious disease

Infections with viruses of the genus henipavirus, family paramyxoviridae.


Rhabdoviridae infectious disease

Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis.


borna disease

An encephalomyelitis of horses, sheep and cattle caused by borna disease virus.


Marburg hemorrhagic fever

Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure.


morbillivirus infectious disease

Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions.


respirovirus infectious disease

Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface.


Paramyxoviridae infectious disease

Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections.


Filoviridae infectious disease

Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown.


parainfluenza virus type 4 infectious disease

A disease caused by infection with parainfluenza virus type 4.


Nipah virus disease

Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness.


parainfluenza virus type 1 infectious disease

A disease caused by infection with parainfluenza virus type 1.


parainfluenza infectious disease

A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults.


Avulavirus infectious disease

Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl.


adult central nervous system choriocarcinoma

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


Ciliary Body Adenoma

A benign neoplasm of the pigmented ciliary epithelium (pigmented epithelial adenoma) and/ or the non-pigmented ciliary epithelium (non-pigmented epithelial adenoma). (WHO 2018)


vascular endothelial growth factor receptor 1 N-glycosylated 4 (human)

A vascular endothelial growth factor receptor 1 (human) that has been N-glycosylated at the residue equivalent to Asn-625 of the amino acid sequence represented by UniProtKB:P17948-1, in which the glycan composition is represented by GlyTouCan:G57776ZU. Example: UniProtKB:P17948-1, Asn-625, MOD:00160~GNO:G57776ZU.


Smouldering systemic mastocytosis

Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions.


L-histidine derivative

A proteinogenic amino acid derivative resulting from the formal reaction of L-histidine at the amino group, carboxy group, or the imidazolyl moiety, or from the replacement of any hydrogen of L-histidine by a heteroatom.


progressive myoclonic epilepsy type 9

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.


Inflammatory Malignant Fibrous Histiocytoma NCI Grade 2


dipsogenic diabetes insipidus

Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism.


DNA (cytosine-5)-methyltransferase 3A isoform m2 (mouse)

A DNA (cytosine-5)-methyltransferase 3A (mouse) 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:O88508-2.


adult papillary meningioma

A papillary meningioma occurring in adults.


gamma-aminobutyric acid receptor subunit beta-1

A GABA(A) receptor protein that is a translation product of the human GABRB1 gene or a 1:1 ortholog thereof.


gamma-aminobutyric acid receptor subunit beta-1 isoform 1 (mouse)

A gamma-aminobutyric acid receptor subunit beta-1 isoform 1 that is encoded in the genome of mouse.


gamma-aminobutyric acid receptor subunit beta-1, signal peptide removed form (human)

A gamma-aminobutyric acid receptor subunit beta-1 (human) that has had the signal peptide removed. UniProtKB:P18505, 26-474.


gamma-aminobutyric acid receptor subunit beta-1 isoform 1 (rat)

A gamma-aminobutyric acid receptor subunit beta-1 isoform 1 that is encoded in the genome of rat.


gamma-aminobutyric acid receptor subunit beta-1 isoform h2 (human)

A gamma-aminobutyric acid receptor subunit beta-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:P18505-2.


gamma-aminobutyric acid receptor subunit beta-1 isoform 1 (human)

A gamma-aminobutyric acid receptor subunit beta-1 isoform 1 that is encoded in the genome of human.


cyclitol

A polyol consisting of a cycloalkane containing at least three hydroxy groups, each attached to a different ring carbon atom.


Inositol

Any cyclohexane-1,2,3,4,5,6-hexol.


An oligosaccharide phosphate consisting of D-myo-inositol having a 6-O-(2-aminoethylphosphono)-alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(1->6)-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl residue attached at the 6-position.


B Acute Lymphoblastic Leukemia with Intrachromosomal Amplification of Chromosome 21

B acute lymphoblastic leukemia characterized by amplification of a portion of chromosome 21. It usually occurs in children and is associated with an adverse prognosis.


Matthew-Wood syndrome

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.


Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor

A testicular mixed germ cell-sex cord-stromal tumor in which the neoplastic germ cells and the neoplastic sex cord-stromal cells do not form nests and are instead arranged in a diffuse pattern.


Empyema with fistula

An empyema with a fistula.


Grade 3 Hyperuricemia, CTCAE

>ULN with physiologic consequences


Grade 4 Alcohol Intolerance, CTCAE

Life-threatening consequences; urgent intervention indicated


secondary early-onset glaucoma of genetic origin


cysteinyl leukotriene receptor

A leukotriene receptor that in active form binds cysteinyl leukotriene.


cysteinyl leukotriene receptor 1

A cysteinyl leukotriene receptor that is a translation product of the human CYSLTR1 gene or a 1:1 ortholog thereof. The preferred ligand is the cysteinyl leukotriene D4.


cysteinyl leukotriene receptor 2

A cysteinyl leukotriene receptor that is a translation product of the human CYSLTR2 gene or a 1:1 ortholog thereof. The preferred ligand is the cysteinyl leukotriene C4.


Grade 3 Flashing Lights, CTCAE

Limiting self care ADL


congenital plasminogen activator inhibitor type 1 deficiency

Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.


Advanced Adenocarcinoma

An adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Ovarian Clear Cell Adenocarcinoma

Ovarian clear cell adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Breast Adenocarcinoma

Breast adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Endometrial Endometrioid Adenocarcinoma

Endometrial endometrioid adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Intrahepatic cholangiocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Distal Bile Duct Adenocarcinoma

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


Advanced renal cell carcinoma

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


Advanced Prostate Adenocarcinoma with Neuroendocrine Differentiation

Prostate adenocarcinoma with neuroendocrine differentiation that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Gastric Adenocarcinoma

Gastric adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Unresectable Gastric Adenocarcinoma

A gastric adenocarcinoma that has spread from its original site of growth to distant anatomic sites and is not amenable to surgical resection.


Advanced Chromophobe Renal Cell Carcinoma

Chromophobe renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Unclassified Renal Cell Carcinoma

Unclassified renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Triple-Negative Breast Carcinoma

Triple-negative breast carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Cervical Adenocarcinoma

A cervical adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Hepatocellular Carcinoma

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


Advanced Cholangiocarcinoma

A cholangiocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Endometrial Adenocarcinoma

Endometrial adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Appendix Adenocarcinoma

Appendix adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Sarcomatoid Renal Cell Carcinoma

Sarcomatoid renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Hilar Cholangiocarcinoma

Hilar cholangiocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Clear Cell Renal Cell Carcinoma

A clear cell renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Adult Hepatocellular Carcinoma

A hepatocellular carcinoma that occurs during adulthood and has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Papillary Renal Cell Carcinoma

A papillary renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Endometrial Serous Adenocarcinoma

Endometrial serous adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Vaginal Adenocarcinoma

Vaginal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Gastroesophageal Junction Adenocarcinoma

Gastroesophageal junction adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Colorectal Adenocarcinoma

Colorectal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Esophageal Adenocarcinoma

Esophageal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced HER2-Positive Breast Carcinoma

HER2-positive breast carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Pancreatic Adenocarcinoma

Pancreatic adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Adenocarcinoma of Unknown Primary

An adenocarcinoma of unknown primary that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Hormone Receptor-Positive Breast Carcinoma

Hormone receptor-positive breast carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Pancreatic Ductal Adenocarcinoma

Pancreatic ductal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Rectal Adenocarcinoma

Rectal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Lung Adenocarcinoma

Lung adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Colon Adenocarcinoma

Colon adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Fibrolamellar Carcinoma

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


Advanced Endometrioid Adenocarcinoma

Endometrioid adenocarcinoma that has spread extensively from the original site of growth to other anatomic sites or is no longer responding to treatment.


Advanced HER2-Negative Breast Carcinoma

HER2-negative breast adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Prostate Adenocarcinoma

A prostatic adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Ovarian Endometrioid Adenocarcinoma

Ovarian endometrioid adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


30S ribosomal protein S12 isoform 1, initiator methionine removed acetylated 1 (Escherichia coli K-12)

A 30S ribosomal protein S12 isoform 1, initiator methionine removed acetylated 1 in Escherichia coli K-12. UniProtKB:P0A7S3-1, 2-124, Lys-108, MOD:00064.


30S ribosomal protein S12 isoform 1, initiator methionine removed methylthiolated 1 (Escherichia coli K-12)

A 30S ribosomal protein S12 isoform 1, initiator methionine removed methylthiolated 1 in Escherichia coli K-12. UniProtKB:P0A7S3-1, 2-124, Asp-89, MOD:00237.


Grade 3 Tooth Development Disorder, CTCAE

Maldevelopment with impairment not surgically correctable; limiting self care ADL


hematopoietic prostaglandin D synthase isoform 1 (human)

A glutathione-requiring prostaglandin D synthase isoform 1 that is encoded in the genome of human.


Grade 4 Cranial Nerve VI Intra-Operative Injury, CTCAE


autosomal dominant nonsyndromic hearing loss 17

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.


Locally Advanced Unresectable Gallbladder Carcinoma

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


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


serine/threonine-protein kinase tousled-like 2 isoform 3 (human)

A serine/threonine-protein kinase tousled-like 2 isoform 3 that is encoded in the genome of human.


solute carrier family 2, facilitated glucose transporter member 2 O-glycosylated 1 (human)

A solute carrier family 2, facilitated glucose transporter member 2 (human) that has been O-glycosylated at the residue equivalent to Thr-69 of the amino acid sequence represented by UniProtKB:P11168-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P11168-1, Thr-69, MOD:00005~GNO:G43417UB.


Grade 2 Non-Infectious Vaginal Discharge, CTCAE


Grade 1 Non-Infectious Vaginal Discharge, CTCAE


Stage IIIA Uveal Melanoma AJCC v7

Stage IIIA includes: (T2c-d, N0, M0); (T3b-c, N0, M0); (T4a, N0, M0).  T2c: Ciliary body and choroid: Tumor size category 2 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T2d: Ciliary body and choroid: Tumor size category 2 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. T3b: Ciliary body and choroid: Tumor size category 3 with ciliary body involvement. T3c: Ciliary body and choroid: Tumor size category 3 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T4a: Iris: Tumor with extrascleral extension less than or equal to 5 mm in diameter.  Ciliary body and choroid: Tumor size category 4 without ciliary body involvement and extraocular extension.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Grade 5 Hematuria, CTCAE

Death


muscarinic acetylcholine receptor DM1 isoform A (fruit fly)

A muscarinic acetylcholine receptor DM1 (fruit fly) 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:P16395-2.


acne keloid

A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent.


Asperger syndrome

A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.


Grade 1 Thoracic Duct Intra-Operative Injury, CTCAE


nuclear receptor subfamily 1 group I member 2 isoform m2 (mouse)

A nuclear receptor subfamily 1 group I member 2 (mouse) 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:O54915-2.


nuclear receptor subfamily 1 group I member 2 isoform 1 (mouse)

A nuclear receptor subfamily 1 group I member 2 isoform 1 that is encoded in the genome of mouse.


vitamin K-dependent protein C N-glycosylated 32 (human)

A vitamin K-dependent protein C (human) that has been N-glycosylated at the residue equivalent to Asn-371 of the amino acid sequence represented by UniProtKB:P04070-1, in which the glycan structure is represented by GlyTouCan:G17409FQ. Example: UniProtKB:P04070-1, Asn-371, MOD:00160~GNO:G17409FQ.


Grade 3 Mediastinum Infection NOS with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Mediastinum Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils NOS, CTCAE


Grade 4 Mediastinum Infection NOS with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 2 Mediastinum Infection NOS with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 5 Mediastinum Infection NOS with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


prostaglandin G/H synthase 2 isoform 1 (rat)

A prostaglandin G/H synthase 2 isoform 1 that is encoded in the genome of rat.


A protein that is a translation product of the human PARP4 gene or a 1:1 ortholog thereof.


D-Ofloxacin

The (R)-enantiomer of ofloxacin.


Either of the two diastereoisomers of 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the imidazol-1-ylmethyl group and the aryloxymethyl group are in a cis relationship to each other - i.e. they are both on the same side of the plane of the dioxolane ring. The antifungal drug ketoconazole is a racemic mixture of the two cis diastereoisomers.


Either of the two diastereoisomers of 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the imidazol-1-ylmethyl group and the aryloxymethyl group are in a trans relationship to each other - i.e. they are on opposite sides of the plane of the dioxolane ring. (N.B. The antifungal drug ketoconazole is a racemic mixture of the two cis diastereoisomers.)


The (S)-enantiomer of gatifloxacin.


Terazol

A 1-(4-{[2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)-4-isopropylpiperazine in which positions 2 and 4 of the 1,3-dioxolane moiety have S and R configuration, respectively.


Difloxacin

A quinolone that is pefloxacin in which the ethyl group at position 1 of the quinolone has been replaced by a p-fluorophenyl group. A broad-spectrum antibiotic effective against both Gram-positive and Gram-negative bacteria, it is used (usually as the monohydrochloride salt) for the treatment of bacterial infections in dogs.


trans-Ketoconazole

A 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the dioxolane ring has R configuration at positions 2 and 4.


(R)-gatifloxacin

The (R)-enantiomer of gatifloxacin.


Sulfociprofloxacin

An organosulfonic acid that is ciprofloxacin  carrying a sulfo group at position 4 of the piperazine ring. It is a metabolite of ciprofloxacin.


(R)-temafloxacin

1-(2,4-difluorophenyl)-6-fluoro-7-(3-methylpiperazin-1-yl)-4-oxo-1,4-dihydroquinoline-3-carboxylic acid that has R configuration.


(S)-temafloxacin

1-(2,4-difluorophenyl)-6-fluoro-7-(3-methylpiperazin-1-yl)-4-oxo-1,4-dihydroquinoline-3-carboxylic acid that has S configuration.


Temafloxacin

A racemate comprising equimolar amounts of (R)- and (S)-temafloxacin. Both enantiomers both exhibit similar pharmacological profiles. Temafloxacin was briefly used (either as the free base or as the hydrochloride salt) as an antibacterial drug but was withdrawn worldwide in 1992 following reports of serious side effects, including severe hypoglycaemia, haemolytic anaemia, liver and kidney dysfunction, anaphylaxis, and death.


(+)-Ketoconazole

A cis-1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine which dioxolane moiety has (2R,4S)-configuration.


Enrofloxacin

A quinolinemonocarboxylic acid that is 1,4-dihydroquinoline-3-carboxylic acid substituted by an oxo group at position 4, a fluoro group at position 6, a cyclopropyl group at position 1 and a 4-ethylpiperazin-1-yl group at position 7. It is a veterinary antibacterial agent used for the treatment of pets.


A 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the dioxolane ring has S configuration at positions 2 and 4.


Terconazole

A 1-(4-{[2-(2,4-dichlorophenyl)-2-(1H-1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)-4-isopropylpiperazine in which positions 2 and 4 of the 1,3-dioxolane moiety have R and S configuration, respectively.


Oxociprofloxacin

metabolite of ciprofloxacin


Ketoconazole

A cis-1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine which dioxolane moiety has (2S,4R)-configuration.


E3 ubiquitin-protein ligase Mdm2 phosphorylated 2 (human)

An E3 ubiquitin-protein ligase Mdm2 (human) that has been post-translationally modified to include phosphoserine at positions 166 and 188 of the amino acid sequence represented by UniProtKB:Q00987. UniProtKB:Q00987, Ser-166/Ser-188, MOD:00046.


isobutyryl-CoA dehydrogenase deficiency

An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).


Metastatic Rectal Adenocarcinoma

An adenocarcinoma that arises from the rectum and has metastasized to another anatomic site.


Locally Advanced Unresectable Rectal Adenocarcinoma

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


Locally Advanced Rectal Adenocarcinoma

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


Alcohol Intolerance

Increased sensitivity to the adverse effects of alcohol, which can include nasal congestion, skin flushes, heart dysrhythmias, nausea, vomiting, indigestion and headaches.


mixed phenotype acute leukemia with BCR-ABL1

An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.


mixed phenotype acute leukemia with t(v;11q23.3)

A rare mixed phenotype acute leukemia in which the blasts carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. The prognosis is usually unfavorable.


developmental and epileptic encephalopathy, 81


benign adult familial myoclonic epilepsy

Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.


adult Refsum disease

A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.


adult Refsum disease due to PEX7 defect

An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.


peroxisome biogenesis disorder due to PEX10 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.


creatine transporter deficiency

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.


PUM1-associated developmental disability-ataxia-seizure syndrome


pyridoxine-dependent epilepsy

A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).


developmental and epileptic encephalopathy 110


developmental and epileptic encephalopathy, 42

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.


febrile seizures, familial, 8

A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.


developmental and epileptic encephalopathy 108


developmental and epileptic encephalopathy, 66


developmental and epileptic encephalopathy, 31

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene.


peroxisome biogenesis disorder due to PEX13 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene.


developmental and epileptic encephalopathy, 3

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.


developmental and epileptic encephalopathy, 38

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.


developmental and epileptic encephalopathy, 55


disorder of bile acid aminotransferase

Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.


early-onset Lafora body disease

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.


peroxisome biogenesis disorder due to PEX26 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.


peroxisomal single enzyme/protein defect

Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.


A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).


developmental and epileptic encephalopathy, 58


peroxisome biogenesis disorder 3A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX12 gene, encoding peroxisome assembly protein 12. Peroxisome biogenesis disorder 3A manifests phenotypically as Zellweger syndrome.


encephalopathy due to GLUT1 deficiency

Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.


spastic paraplegia-severe developmental delay-epilepsy syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.


mulibrey nanism

A prenatal onset growth disorder with multiorgan manifestations.


X-linked cerebral adrenoleukodystrophy

A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.


developmental and epileptic encephalopathy, 12

An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.


sterol carrier protein 2 deficiency

A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.


neonatal-onset developmental and epileptic encephalopathy

A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.


developmental and epileptic encephalopathy, 82


rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.


Zellweger spectrum disorders

The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.


pyruvate dehydrogenase E3-binding protein deficiency

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.


developmental and epileptic encephalopathy, 51

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.


epilepsy, idiopathic generalized

A chronic condition characterized by recurrent generalized seizures.


AGAT deficiency

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.


developmental and epileptic encephalopathy, 26

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.


Lafora disease

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.


infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.


sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.


peroxisome biogenesis disorder 7A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7A manifests phenotypically as Zellweger syndrome.


benign familial infantile epilepsy

Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.


inherited reflex epilepsy

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


undetermined early-onset epileptic encephalopathy

A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.


developmental and epileptic encephalopathy, 64


peroxisome biogenesis disorder 1B

An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


encephalopathy due to mitochondrial and peroxisomal fission defect


peroxisome biogenesis disorder due to PEX3 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.


developmental and epileptic encephalopathy, 7

KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.


neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.


epilepsy, familial focal, with variable foci 4


seizures, benign familial infantile, 3

Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.


developmental and epileptic encephalopathy, 87


peroxisome biogenesis disorder, complementation group 3


developmental and epileptic encephalopathy, 6

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.


autosomal dominant epilepsy with auditory features

A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.


lipoic acid synthetase deficiency

Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.


epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).


developmental and epileptic encephalopathy

A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.


juvenile absence epilepsy

Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.


progressive myoclonic epilepsy type 3

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.


developmental and epileptic encephalopathy, 80


peroxisome biogenesis disorder 1A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder

Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).


adrenomyeloneuropathy

An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.


epileptic encephalopathy, infantile or early childhood


developmental and epileptic encephalopathy 105 with hypopituitarism


peroxisome biogenesis disorder due to PEX6 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.


developmental and epileptic encephalopathy, 72


focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.


pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.


developmental and epileptic encephalopathy, 76

An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B.


disorder of peroxisomal alpha oxidation

Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.


generalized epilepsy with febrile seizures plus, type 1


rhizomelic chondrodysplasia punctata type 3

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.


peroxisome biogenesis disorder 4B

An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2, Peroxisome biogenesis disorder 4B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


developmental and epileptic encephalopathy 102


developmental and epileptic encephalopathy 101


disorder of peroxisomal transporter

Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.


developmental and epileptic encephalopathy, 46

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.


peroxisome biogenesis disorder due to PEX16 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.


generalized epilepsy with febrile seizures plus, type 8


A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.


peroxisome biogenesis disorder due to PEX12 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.


developmental and epileptic encephalopathy, 56


Mowat-Wilson syndrome due to a ZEB2 point mutation


adolescent/adult onset autosomal dominant epilepsy with auditory features

A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.


developmental and epileptic encephalopathy, 30

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.


generalized epilepsy with febrile seizures plus, type 6


familial encephalopathy with neuroserpin inclusion bodies


peroxisome biogenesis disorder 10A (Zellweger)


developmental and epileptic encephalopathy 109


juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).


developmental and epileptic encephalopathy, 19

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.


autosomal recessive spinocerebellar ataxia 15

Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.


Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene.


developmental and epileptic encephalopathy 6B


phytanoyl-CoA hydroxylase deficiency

Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.


disorder of defective peroxisomal and mitochondrial fission

A disease that has its basis in the disruption of peroxisome and mitochondrial fission.


mitochondrial DNA depletion syndrome 4a

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.


severe neonatal-onset encephalopathy with microcephaly

An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.


X-linked intellectual disability-epilepsy syndrome


pyruvate dehydrogenase E1-beta deficiency

Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.


developmental and epileptic encephalopathy 31B


cerebral creatine deficiency syndrome

Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.


developmental and epileptic encephalopathy, 36

An X-linked dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the ALG13 gene, encoding putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13.


pyruvate dehydrogenase E2 deficiency

Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.


developmental and epileptic encephalopathy, 53


autosomal dominant nocturnal frontal lobe epilepsy 4

Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.


developmental and epileptic encephalopathy, 11

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.


pyridoxine-dependent epilepsy caused by ALDH7A1 mutant


developmental and epileptic encephalopathy, 74


myoclonic-atonic epilepsy

An autosomal dominant condition caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1. It is characterized by early onset of absence and myoclonic seizures following developmental delay. Intellectual disability may develop following the onset of seizures.


congenital bile acid synthesis defect 4

An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.


generalized epilepsy with febrile seizures plus, type 9

Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.


familial temporal lobe epilepsy 2

A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.


developmental and epileptic encephalopathy, 63


photosensitive epilepsy

An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.


peroxisome biogenesis disorder 6B

An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


congenital bile acid synthesis defect 5

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.


encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


folinic acid-responsive seizures

Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.


seizures, benign familial neonatal, 1

Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.


developmental and epileptic encephalopathy, 50


epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features


developmental and epileptic encephalopathy, 37

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.


developmental and epileptic encephalopathy, 68


epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features


familial mesial temporal lobe epilepsy with febrile seizures


developmental and epileptic encephalopathy, 88


developmental and epileptic encephalopathy 89


epilepsy, early-onset, vitamin B6-dependent


generalized epilepsy with febrile seizures plus, type 7

Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.


childhood absence epilepsy

Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.


developmental and epileptic encephalopathy 106


developmental and epileptic encephalopathy, 18


pyridoxal phosphate-responsive seizures

Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.


developmental and epileptic encephalopathy, 75


developmental and epileptic encephalopathy, 69


pyruvate dehydrogenase phosphatase deficiency

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.


peroxisome biogenesis disorder 5A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder due to PEX14 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.


infantile convulsions and choreoathetosis

Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.


GLUT1 deficiency syndrome

An epileptic encephalopathy resulting from impaired glucose transport into the brain.


developmental and epileptic encephalopathy, 34

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.


developmental and epileptic encephalopathy 96


X-linked dominant intellectual disability-epilepsy syndrome


seizures, benign familial infantile, 5

Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.


action myoclonus-renal failure syndrome

Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.


peroxisome biogenesis disorder 8B

An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


peroxisome biogenesis disorder 11A (Zellweger)


pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.


progressive myoclonic epilepsy type 8

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.


Mowat-Wilson syndrome due to monosomy 2q22


developmental and epileptic encephalopathy, 21

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.


developmental and epileptic encephalopathy, 14

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.


epilepsy, familial focal, with variable foci 3

Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.


benign familial neonatal-infantile seizures 1


developmental and epileptic encephalopathy, 62


alanine glyoxylate aminotransferase deficiency

Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.


d-bifunctional protein deficiency

A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.


non-neonatal early infantile epileptic encephalopathy

Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.


developmental and epileptic encephalopathy, 78


neonatal-onset encephalopathy with rigidity and seizures


developmental and epileptic encephalopathy 99


acyl-CoA binding domain containing protein 5 deficiency

A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.


autosomal dominant nocturnal frontal lobe epilepsy 5

Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.


childhood epilepsy with centrotemporal spikes

A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.