Eosinophilic granulomatous polyp

A benign, often polypoid, hypocellular fibroblastic neoplasm with a predilection for the stomach and ileum, containing a prominent inflammatory infiltrate, especially eosinophils. (WHO 2019)


tubulopapillary adenoma of gallbladder

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

A grossly visible non-invasive neoplasm of the gallbladder composed of uniform back-to-back mucinous glands arranged in a tubular configuration. (WHO 2019)


myxoid/round cell liposarcoma

Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.


ovarian myxoid liposarcoma

A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.


round cell liposarcoma

A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.


Vaginal Cancer by AJCC v8 Stage

A term that refers to the staging of vaginal cancer according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all carcinomas of the vagina. There is no AJCC staging system for mucosal melanoma of the vagina. (from AJCC 8th Ed.)


Stage III Vaginal Cancer AJCC v8

Stage III includes: (T1-T3, N1, M0); (T3, N0, M0). T1: Tumor confined to the vagina. T2: Tumor invading paravaginal tissues but not to pelvic sidewall. T3: Tumor extending to the pelvic sidewall and/or involving the lower third of the vagina and/or causing hydronephrosis or nonfunctioning kidney. N0: No regional lymph node metastasis. N1: Pelvic or inguinal lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IV Vaginal Cancer AJCC v8

Stage IV includes: IVA: T4, Any N, M0; IVB: Any T, Any N, M1. T4: Tumor invading the mucosa of the bladder or rectum and/or extending beyond the true pelvis (bullous edema is not sufficient evidence to classify a tumor as T4). M0: No distant metastasis. M1: Distant metastasis. (from AJCC 8th Ed.)


Stage II Vaginal Cancer AJCC v8

Stage II includes: IIA: T2a, N0, M0; IIB: T2b, N0, M0. T2a: Tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. T2b: Tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIA Vaginal Cancer AJCC v8

Stage IIA includes: T2a, N0, M0. T2a: Tumor invading paravaginal tissues but not to pelvic wall, measuring 2.0 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IIB Vaginal Cancer AJCC v8

Stage IIB includes: T2b, N0, M0. T2b: Tumor invading paravaginal tissues but not to pelvic wall, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IVB Vaginal Cancer AJCC v8

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


von Willebrand factor N-glycosylated 32 (human)

A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-666 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P04275-1, Asn-666, MOD:00160~GNO:G88374WZ.


Unresectable Papillary Renal Cell Carcinoma

Papillary renal cell carcinoma that is not amenable to surgical resection.


calcitonin receptor isoform h1 (human)

A calcitonin receptor (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:P30988-2.


calcitonin receptor protein

A rhodopsin-like G-protein coupled receptor that is a translation product of the human CALCR or CALCRL genes, 1:1 orthologs thereof, or a semi-ortholog thereof.


calcitonin receptor, signal peptide removed form (human)

A calcitonin receptor (human) that has had the signal peptide removed. Example: UniProtKB:P30988-2, 25-474.


calcitonin receptor

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


calcitonin gene-related peptide type 1 receptor

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


calcitonin receptor isoform h6 (human)

A calcitonin receptor (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:P30988-6.


calcitonin receptor cysteinylated 1 (human)

A calcitonin receptor (human) that has been cysteinylated on the residue at the position equivalent to Cys-112 of the amino acid sequence represented by UniProtKB:P30988-2. Example: UniProtKB:P30988-2, Cys-112, MOD:00765.


calcitonin receptor isoform h5 (human)

A calcitonin receptor (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:P30988-5.


calcitonin receptor isoform h4 (human)

A calcitonin receptor (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:P30988-4.


calcitonin receptor cysteinylated 2 (human)

A calcitonin receptor (human) that has been cysteinylated on the residue at the position equivalent to Cys-81 of the amino acid sequence represented by UniProtKB:P30988-2. Example: UniProtKB:P30988-2, Cys-81, MOD:00765.


calcitonin gene-related peptide type 1 receptor, signal peptide removed form (human)

A calcitonin gene-related peptide type 1 receptor (human) that has had the signal peptide removed. UniProtKB:Q16602, 23-461.


calcitonin receptor isoform h2 (human)

A calcitonin receptor (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:P30988-1.


calcitonin receptor isoform h3 (human)

A calcitonin receptor (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:P30988-3.


calcitonin receptor methylated 1 (human)

A calcitonin receptor (human) that has been methylated on the residue at the position equivalent to Cys-81 of the amino acid sequence represented by UniProtKB:P30988-2. Example: UniProtKB:P30988-2, Cys-81, MOD:00660.


Refractory Fibrolamellar Carcinoma

Fibrolamellar carcinoma that is resistant to treatment.


NAD-dependent protein deacylase sirtuin-5, mitochondrial isoform 1 (human)

An NAD-dependent deacetylase sirtuin-5 isoform 1 that is encoded in the genome of human.


pyridoxamine 5'-phosphate

A vitamin B6 phosphate that is the  phosphoric ester derivative of pyridoxamine.


pyridoxamine

A monohydroxypyridine that is pyridine substituted by a hydroxy group at position 3, an aminomethyl group at position 4, a hydroxymethyl group at position 5 and a methyl group at position 2. The 4-aminomethyl form of vitamin B6, it is used (in the form of the hydrochloride salt) for treatment of diabetic nephropathy.


cAMP-dependent protein kinase catalytic subunit alpha isoform 1 (cow)

A cAMP-dependent protein kinase catalytic subunit alpha isoform 1 that is encoded in the genome of cow.


cAMP-dependent protein kinase catalytic subunit alpha isoform 1, initiator methionine removed phosphorylated 1 (cow)

A cAMP-dependent protein kinase catalytic subunit alpha isoform 1, initiator methionine removed phosphorylated 1 in cow. UniProtKB:P00517-1, 2-351, Ser-11/Ser-339, MOD:00046|Thr-198, MOD:00047.


Decreased Corpora Lutea

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

A decrease in the number of corpora lutea within the ovary.


Prostate Stromal Proliferation of Uncertain Malignant Potential

A neoplastic lesion that arises from the prostate gland stroma.  Morphologic characteristics include hypercellular stroma with scattered atypical cells, prominent overgrowth of the prostatic stroma, or changes resembling benign phyllodes tumor.  The majority of cases do not have an aggressive clinical course.  A minority of cases however, may progress to stromal sarcoma.


Grade 5 Appendicitis Perforated, CTCAE

Death


tibial muscular dystrophy

A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.


Meyerson Nevus

A benign melanocytic nevus surrounded by eczematous changes.


Metastatic malignant neoplasm to supraclavicular lymph nodes

The spread of a malignant neoplasm from its original site of growth to supraclavicular lymph nodes.


Metastatic Malignant Neoplasm in the Regional Lymph Nodes

The spread of a malignant neoplasm from its original site of growth to nearby lymph nodes.


Breast Carcinoma Metastatic in the Lymph Nodes

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


Metastatic malignant neoplasm to mediastinal lymph nodes

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


Prostate Carcinoma Metastatic in the Lymph Nodes

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


Metastatic Squamous Cell Carcinoma in the Cervical Lymph Nodes

A squamous cell carcinoma that has spread from its original site of growth to the cervical lymph nodes.


Dextro-Transposition of the Great Vessels with Intact Ventricular Septum

A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with the notable absence of any pathologic opening between the cardiac ventricles.


death-associated protein kinase

A protein that is a translation product of the human DAPK1, DAPK2, or DAPK3 genes, 1:1 orthologs thereof, or a semi-ortholog thereof.


death-associated protein kinase 2 isoform 1 (human)

A death-associated protein kinase 2 isoform 1 that is encoded in the genome of human.


death-associated protein kinase 1 cysteinylated 1 (human)

A death-associated protein kinase 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-753 of the amino acid sequence represented by UniProtKB:P53355-1. Example: UniProtKB:P53355-1, Cys-753, MOD:00765.


death-associated protein kinase 3 isoform h2 (human)

A death-associated protein kinase 3 (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:O43293-2.


death-associated protein kinase 1 methylated 2 (human)

A death-associated protein kinase 1 (human) that has been methylated on the residue at the position equivalent to Cys-529 of the amino acid sequence represented by UniProtKB:P53355-1. Example: UniProtKB:P53355-1, Cys-529, MOD:00660.


death-associated protein kinase 3

A death-associated protein kinase that is a translation product of the human DAPK3 gene or a 1:1 ortholog thereof.


death-associated protein kinase 3 isoform 1 (human)

A death-associated protein kinase 3 (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:O43293-1.


death-associated protein kinase 3 methylated 1 (human)

A death-associated protein kinase 3 (human) that has been methylated on the residue at the position equivalent to Cys-349 of the amino acid sequence represented by UniProtKB:O43293-1. Example: UniProtKB:O43293-1, Cys-349, MOD:00660.


death-associated protein kinase 2

A death-associated protein kinase that is a translation product of the human DAPK2 gene or a 1:1 ortholog thereof.


death-associated protein kinase 1 deaminated 1 (human)

A death-associated protein kinase 1 (human) that has been deaminated on the residue at the position equivalent to Asn-125 of the amino acid sequence represented by UniProtKB:P53355-1. Example: UniProtKB:P53355-1, Asn-125, MOD:00684.


death-associated protein kinase 3 phosphorylated 2 (human)

A death-associated protein kinase 3 (human) that has been phosphorylated on the residue at the position equivalent to Ser-414 of the amino acid sequence represented by UniProtKB:O43293-1. Example: UniProtKB:O43293-1, Ser-414, MOD:00046.


death-associated protein kinase 1 phosphorylated 3 (human)

A death-associated protein kinase 1 (human) that has been phosphorylated on the residue at the position equivalent to Thr-87 of the amino acid sequence represented by UniProtKB:P53355-1. Example: UniProtKB:P53355-1, Thr-87, MOD:00047.


death-associated protein kinase 1 deaminated 2 (human)

A death-associated protein kinase 1 (human) that has been deaminated on the residue at the position equivalent to Asn-747 of the amino acid sequence represented by UniProtKB:P53355-1. Example: UniProtKB:P53355-1, Asn-747, MOD:00684.


death-associated protein kinase 1 methylated 1 (human)

A death-associated protein kinase 1 (human) that has been methylated on the residue at the position equivalent to Cys-484 of the amino acid sequence represented by UniProtKB:P53355-1. Example: UniProtKB:P53355-1, Cys-484, MOD:00660.


death-associated protein kinase 1 phosphorylated 2 (human)

A death-associated protein kinase 1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-1429 of the amino acid sequence represented by UniProtKB:P53355-1. Example: UniProtKB:P53355-1, Ser-1429, MOD:00046.


death-associated protein kinase 1 deaminated 3 (human)

A death-associated protein kinase 1 (human) that has been deaminated on the residue at the position equivalent to Gln-38 of the amino acid sequence represented by UniProtKB:P53355-1. Example: UniProtKB:P53355-1, Gln-38, MOD:00685.


death-associated protein kinase 1 isoform h2 (human)

A death-associated protein kinase 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:P53355-2.


death-associated protein kinase 1 isoform h4 (human)

A death-associated protein kinase 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:P53355-4.


death-associated protein kinase 1 phosphorylated 1 (human)

A death-associated protein kinase 1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-289 of the amino acid sequence represented by UniProtKB:P53355-1. Example: UniProtKB:P53355-1, Ser-289, MOD:00046.


death-associated protein kinase 2 isoform h2 (human)

A death-associated protein kinase 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UIK4-2.


death-associated protein kinase 1 isoform h3 (human)

A death-associated protein kinase 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:P53355-3.


death-associated protein kinase 1 isoform 1 (human)

A death-associated protein kinase 1 isoform 1 that is encoded in the genome of human.


death-associated protein kinase 1

A death-associated protein kinase that is a translation product of the human DAPK1 gene or a 1:1 ortholog thereof.


death-associated protein kinase 3 phosphorylated 1 (human)

A death-associated protein kinase 3 (human) that has been phosphorylated on several Ser residues via activation by DAPK1. UniProtKB:O43293, Ser-309/Ser-311/Ser-312/Ser-318/Ser-326, MOD:00046.


Grade 3 Neck Soft Tissue Necrosis, CTCAE

Operative debridement or other invasive intervention indicated (e.g., tissue reconstruction, flap, or grafting)


Grade 3 Peripheral Motor Nerve NOS Intra-Operative Injury, CTCAE


Central Nervous System Teratoma with Malignant Transformation

A central nervous system teratoma characterized by the presence of a malignant component. The malignant component most often is sarcomatous (rhabdomyosarcoma or undifferentiated sarcoma) or carcinomatous (squamous cell carcinoma or adenocarcinoma).


Sellar Teratoma with Malignant Transformation

A teratoma with malignant transformation that arises from or adjacent to the sellar region.


HIV wasting syndrome

Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611).


Stage IA1 Cervical Cancer

Stage IA1 includes: T1a1, N0, M0.  T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 mm or less in horizontal spread.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IA Cervical Cancer AJCC v6 and v7

Stage IA includes: IA (T1a, N0, M0); IA1 (T1a1, N0, M0); IA2 (T1a2, N0, M0).  T1a: Invasive carcinoma diagnosed only by microscopy. Stromal invasion with a maximum depth of 5.0 mm measured from the base of the epithelium and a horizontal spread of 7.0 mm or less. Vascular space involvement, venous or lymphatic, does not affect classification. T1a1: Measured stromal invasion 3.0 mm or less in depth and 7.0 or less horizontal spread.  T1a2: Measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IA2 Cervical Cancer

Stage IA2 includes: T1a2, N0, M0.  T1a2: Measured stromal invasion more than 3.0 mm and not more than 5.0 mm with a horizontal spread 7.0 mm or less.  N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Machado-Joseph disease type 2

Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.


Machado-Joseph disease

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.


Machado-Joseph disease type 4

A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment.


Machado-Joseph disease type 3

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.


Machado-Joseph disease type 5

A subtype of Machado-Joseph disease characterized by resemblance to Hereditary Spastic Paraplegia; however, more research is needed to conclude the relationship between Type V MJD and hereditary spastic paraplegia.


Machado-Joseph disease type 1

Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.


DNA polymerase eta

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


DNA polymerase eta isoform 1 (human)

A DNA polymerase eta (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:Q9Y253-1.


DNA polymerase eta isoform h2 (human)

A DNA polymerase eta (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:Q9Y253-2.


DNA polymerase eta ubiquitinated 1 (human)

A DNA polymerase eta (human) that has been post-translationally modified to include ubiquitinated lysine at positions 682, 686, 694 and 709 of the amino acid sequence represented by UniProtKB:Q9Y253. UniProtKB:Q9Y253, Lys-682/Lys-686/Lys-694/Lys-709, MOD:01148.


Steroid Resistant Gastrointestinal Tract Acute Graft Versus Host Disease

Acute graft versus host disease occurring in the gastrointestinal tract that is resistant to treatment with steroids.


Grade 1 Respiratory Tract Hemorrhage NOS, CTCAE


ephrin type-A receptor 1 isoform h2 (human)

An ephrin type-A receptor 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:P21709-2.


ephrin type-A receptor 1 isoform h1 (human)

An ephrin type-A receptor 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:P21709-1.


ephrin type-A receptor 1 isoform h3 (human)

An ephrin type-A receptor 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:P21709-3.


ephrin type-A receptor 1, signal peptide removed form (human)

An ephrin type-A receptor 1 (human) that has had the signal peptide removed. UniProtKB:P21709, 26-976.


SUMO-activating enzyme subunit 2 deaminated 2 (human)

A SUMO-activating enzyme subunit 2 (human) that has been deaminated on the residue at the position equivalent to Gln-147 of the amino acid sequence represented by UniProtKB:Q9UBT2-1. Example: UniProtKB:Q9UBT2-1, Gln-147, MOD:00685.


high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A isoform hPDE9A2 (human)

A high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A (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:O76083-2.


NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2, initiator methionine removed form (human)

An NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 (human) that has had the initiator methionine removed. UniProtKB:O43678, 2-99.


parotid disorder

A disease involving the parotid gland.


parotid gland neoplasm

A neoplasm (disease) that involves the parotid gland.


benign neoplasm of parotid gland

A benign neoplasm that involves the parotid gland.


Shock From Lead

Unintended electric shock from patient leads.


voltage-dependent L-type calcium channel subunit alpha-1C isoform h5 (human)

A voltage-dependent L-type calcium channel subunit alpha-1C (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:Q13936-5.


ectopic Cushing syndrome

Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor.


ACTH-independent adrenal Cushing syndrome, somatic


ACTH-independent macronodular adrenal hyperplasia 1


Cushing syndrome due to macronodular adrenal hyperplasia

A rare type of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS.


ACTH-independent macronodular adrenal hyperplasia 2

Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene.


ACTH-dependent Cushing syndrome

Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH).


ACTH-independent Cushing syndrome

Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC).


von Willebrand factor N-glycosylated 9 (human)

A von Willebrand factor (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P04275-1, in which the glycan composition is represented by GlyTouCan:G29279QO. Example: UniProtKB:P04275-1, Asn-156, MOD:00160~GNO:G29279QO.


tissue-type plasminogen activator N-glycosylated 24 (human)

A tissue-type plasminogen activator (human) that has been N-glycosylated at the residue equivalent to Asn-152 of the amino acid sequence represented by UniProtKB:P00750-1, in which the glycan structure is represented by GlyTouCan:G92570PJ. Example: UniProtKB:P00750-1, Asn-152, MOD:00160~GNO:G92570PJ.


calcium-activated calmodulin-binding potassium channel alpha subunit

A calcium-activated potassium channel protein that has amino- and carboxyl-terminal intracellular domains separated by a domain containing six transmembrane helices (S1-S6) in which the last two helices (S5 and S6) flank a loop, called the pore loop, which determines ion selectivity. They are subunits of the small conductance calcium-activated channels. SK channels are independent of voltage and gated solely by intracellular calcium. These membrane channels are heteromeric complexes that comprise pore-forming alpha-subunits and the calcium-binding protein calmodulin. Calmodulin binds to the SK channel through the Calmodulin binding domain (Pfam:PF02888), which is located in an intracellular region of the alpha-subunit immediately carboxy-terminal to the pore. Channel opening is triggered when calcium binds the EF hands in the N-lobe of calmodulin. These channels play a crucial role in hyperpolarizing the membrane potential of excitable and nonexcitable cells.


intermediate conductance calcium-activated potassium channel protein 4 isoform 1 (human)

An intermediate conductance calcium-activated potassium channel protein 4 isoform 1 that is encoded in the genome of human.


small conductance calcium-activated potassium channel protein 1

A calcium-activated calmodulin-binding potassium channel alpha subunit that is a translation product of the human KCNN1 gene or a 1:1 ortholog thereof.


small conductance calcium-activated potassium channel protein 1 isoform h1 (human)

A small conductance calcium-activated potassium channel protein 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92952-1.


small conductance calcium-activated potassium channel protein 2 isoform 2 (human)

A small conductance calcium-activated potassium channel protein 2 isoform 2 that is encoded in the genome of human.


small conductance calcium-activated potassium channel protein 1 isoform 2 (human)

A small conductance calcium-activated potassium channel protein 1 isoform 2 that is encoded in the genome of human.


intermediate conductance calcium-activated potassium channel protein 4 deaminated 1 (human)

An intermediate conductance calcium-activated potassium channel protein 4 (human) that has been deaminated on the residue at the position equivalent to Gln-382 of the amino acid sequence represented by UniProtKB:O15554. UniProtKB:O15554, Gln-382, MOD:00685.


small conductance calcium-activated potassium channel protein 3 isoform 1 (human)

A small conductance calcium-activated potassium channel protein 3 isoform 1 that is encoded in the genome of human.


small conductance calcium-activated potassium channel protein 2 isoform 1 (human)

A small conductance calcium-activated potassium channel protein 2 isoform 1 that is encoded in the genome of human.


small conductance calcium-activated potassium channel protein 1 phosphorylated 1 (human)

A small conductance calcium-activated potassium channel protein 1 (human) that has been phosphorylated on the residue at the position equivalent to Thr-402 of the amino acid sequence represented by UniProtKB:Q92952-1. Example: UniProtKB:Q92952-1, Thr-402, MOD:00047.


small conductance calcium-activated potassium channel protein 2

A calcium-activated calmodulin-binding potassium channel alpha subunit that is a translation product of the human KCNN2 gene or a 1:1 ortholog thereof.


small conductance calcium-activated potassium channel protein 3

A calcium-activated calmodulin-binding potassium channel alpha subunit that is a translation product of the human KCNN3 gene or a 1:1 ortholog thereof. The KCNN3 gene contains two arrays of CAG trinucleotide repeats, which are highly polymorphic. The SK3 channels are thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization.


intermediate conductance calcium-activated potassium channel protein 4

A calcium-activated calmodulin-binding potassium channel alpha subunit that is a translation product of the human KCNN4 gene or a 1:1 ortholog thereof. It forms a voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization which promotes calcium influx. The channel is blocked by clotrimazole and charybdotoxin but is insensitive to apamin. This feature distinguishes the intermediate from the small conductance channels.


small conductance calcium-activated potassium channel protein 3 sequence variant 1 (human)

A small conductance calcium-activated potassium channel protein 3 (human) that has a C-terminal truncation due to frameshift and premature stop, such that the sequence is equivalent to UniProtKB:Q9UGI6-1, 1-283, plus the residues TML. The truncated protein lacks the transmembrane and the calmodulin binding domains. However, it conserves the two glutamine rich domains.


small conductance calcium-activated potassium channel protein 3 isoform h2 (human)

A small conductance calcium-activated potassium channel protein 3 (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:Q9UGI6-2.


small conductance calcium-activated potassium channel protein 3 isoform h3 (human)

A small conductance calcium-activated potassium channel protein 3 (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:Q9UGI6-3.


heme oxygenase 1 isoform 1 (rat)

A heme oxygenase 1 isoform 1 that is encoded in the genome of rat.


microphthalmia, isolated, with coloboma 4


Hemoglobin SE disease

A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin E mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease.


Stage IV Colorectal Neuroendocrine Tumor AJCC v8

Stage IV includes: (T1, Any N, M1); (T2, Any N, M1); (T3, Any N, M1); (T4, Any N, M1). T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. T2: Tumor invading the muscularis propria or measuring more than 2 cm with invasion of the lamina propria or submucosa. T3: Tumor invading through the muscularis propria into subserosal tissue without penetration of overlying serosa. T4: Tumor invading the visceral peritoneum (serosa) or other organs or adjacent structures. M1: Distant metastasis. (AJCC 8th ed.)


Stage IV Colon Neuroendocrine Tumor AJCC v8


Stage IV Rectal Neuroendocrine Tumor AJCC v8


Pyogenic granuloma of oral mucosa

A lobular hemangioma arising from the oral mucosa.


Airway Infantile Hemangioma

A rare infantile hemangioma in the airway, usually in the subglottic area or trachea. It may or may not be associated with cutaneous lesions. It is a potentially life-threatening condition and the infant should be closely monitored for signs of airway disease.


Senile hemangioma of lip

A capillary hemangioma arising from the lip and presenting as a papular lesion.


Pyogenic granuloma of skin and subcutaneous tissue

A lobular hemangioma arising from the skin and attached subcutaneous tissues.


Anastomosing Hemangioma

An unusual variant of capillary hemangioma. It is characterized by a unique anastomosing sinusoidal-like architecture which may mimic angiosarcoma. It was originally described in the kidney but rare cases have been reported in other sites.


Infantile hemangioma of liver

A capillary hemangioma that arises from the liver. It occurs in infants and children.


Infantile hemangioma

A capillary hemangioma that may regress spontaneously.  It occurs in infants and children.


Multiple Lobular Capillary Hemangiomas

A lobular hemangioma present in multiple anatomic sites.


Capillary hemangioma of orbit

A capillary hemangioma arising from the orbit.


Cardiac Capillary Hemangioma

A capillary hemangioma arising from the heart.


prostate-specific antigen N-glycosylated 78 (human)

A prostate-specific antigen (human) that has been N-glycosylated at the residue equivalent to Asn-69 of the amino acid sequence represented by UniProtKB:P07288-1, in which the glycan composition is represented by GlyTouCan:G95835XS. Example: UniProtKB:P07288-1, Asn-69, MOD:00160~GNO:G95835XS.


interleukin-1 receptor antagonist protein isoform 1, signal peptide removed form (human)

An interleukin-1 receptor antagonist protein isoform 1, signal peptide removed form in human. UniProtKB:P18510-1, 26-177.


interleukin-1 receptor antagonist protein isoform 1 (human)

An interleukin-1 receptor antagonist protein isoform 1 that is encoded in the genome of human.


transitional endoplasmic reticulum ATPase deaminated 4 (human)

A transitional endoplasmic reticulum ATPase (human) that has been deaminated on the residue at the position equivalent to Asn-260 of the amino acid sequence represented by UniProtKB:P55072. UniProtKB:P55072, Asn-260, MOD:00684.


secondary neoplasm

A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.


metastatic malignant neoplasm in the eye

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


metastatic malignant neoplasm

A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site.


secondary malignant neoplasm

A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment.


Foreign body in penis

Extraneous material located within the penis.


Postoperative shock

A state of shock following a surgical operation.


Stage II Appendix Neuroendocrine Tumor AJCC v7

Stage II includes: T2, T3, N0, M0. T2: Tumor more than 2 cm but not more than 4 cm or with extension to the cecum. T3: Tumor more than 4 cm or with extension to the ileum.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Adult Ependymoma

An ependymoma occurring in adults.


Adult Supratentorial Ependymoma ZFTA Fusion-Positive

A supratentorial ependymoma ZFTA fusion-positive that occurs in adults.


Adult Posterior Fossa Ependymoma

A posterior fossa ependymoma that occurs in adults.


Grade 5 Cerebrospinal Fluid Leakage, CTCAE

Death


Advanced Genitourinary System Carcinoma

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


Advanced Bladder Urothelial Carcinoma

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


Advanced Urethral Urothelial Carcinoma

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


Advanced Vaginal Adenosquamous Carcinoma

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


Advanced Endometrial Carcinoma

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


Advanced Fallopian Tube Carcinoma

Fallopian tube carcinoma that has spread extensively from its original site of growth to other anatomic sites or is no longer responding to treatment.


Advanced Ureter Urothelial Carcinoma

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


Advanced Cervical Squamous Cell Carcinoma

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


Advanced Penile Carcinoma

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


Advanced Vaginal Squamous Cell Carcinoma

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


Advanced Cervical Carcinoma

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


Advanced Bladder Carcinoma

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


Advanced Platinum-Resistant Ovarian Carcinoma

Platinum-resistant ovarian carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Ovarian Carcinoma

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


Advanced Urothelial Carcinoma

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


Advanced Renal Pelvis and Ureter Urothelial Carcinoma

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


Advanced Microsatellite Stable Ovarian Carcinoma

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


Advanced Microsatellite Stable Endometrial Carcinoma

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


Advanced Vaginal Carcinoma

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


Advanced Endometrial Undifferentiated Carcinoma

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


Advanced Vulvar Carcinoma

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


Advanced Prostate Carcinoma

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


Advanced Vaginal Squamous Cell Carcinoma, Not Otherwise Specified

Vaginal squamous cell carcinoma, not otherwise specified that that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Cervical Adenosquamous Carcinoma

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


hereditary continuous muscle fiber activity

Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.


basal ganglia calcification, idiopathic, 1

An autosomal dominant condition caused by mutation(s) in the SLC20A2 gene, encoding sodium-dependent phosphate transporter 2. It is characterized by calcification of the basal ganglia.


bromodomain-containing protein 4 isoform B (human)

A bromodomain-containing protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60885-3.


bromodomain-containing protein 4 isoform C (human)

A bromodomain-containing protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60885-2.


bromodomain-containing protein 4 phosphorylated 1 (human)

A bromodomain-containing protein 4 (human) that has been phosphorylated on the residue at the position equivalent to Thr-221 of the amino acid sequence represented by UniProtKB:O60885-1. Example: UniProtKB:O60885-1, Thr-221, MOD:00047.


bromodomain-containing protein 4 isoform A (human)

A bromodomain-containing protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60885-1.


bromodomain-containing protein 4 deaminated 1 (human)

A bromodomain-containing protein 4 (human) that has been deaminated on the residue at the position equivalent to Asn-162 of the amino acid sequence represented by UniProtKB:O60885-1. Example: UniProtKB:O60885-1, Asn-162, MOD:00684.


Recurrent Grade II Lymphomatoid Granulomatosis

The reemergence of grade II lymphomatoid granulomatosis after a period of remission.


Recurrent Grade I Lymphomatoid Granulomatosis

The reemergence of grade I lymphomatoid granulomatosis after a period of remission.


Recurrent Childhood Lymphomatoid Granulomatosis

The reemergence of lymphomatoid granulomatosis in childhood after a period of remission.


retinitis pigmentosa 2

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.


RP2-related retinopathy

A retinopathy caused by variants in the X-linked gene, RP2.


Extraocular Cutaneous Sebaceous Carcinoma

A rare variant of sebaceous carcinoma that does not affect the ocular region.


Conjunctival Sebaceous Carcinoma

A rare sebaceous carcinoma that arises from the conjunctiva.


Metastatic Sebaceous Carcinoma

Sebaceous carcinoma that has spread from the original site of growth to other anatomic sites.


Recurrent Sebaceous Carcinoma

The reemergence of sebaceous carcinoma after a period of remission.


sebaceous carcinoma of salivary gland

A rare sebaceous carcinoma that arises from the salivary glands.


Refractory Sebaceous Carcinoma

Sebaceous carcinoma that is resistant to treatment.


Head and Neck Sebaceous Carcinoma

A sebaceous carcinoma that arises from the head and neck region.


oxytocin-neurophysin 1 isoform 1 (human)

An oxytocin-neurophysin 1 isoform 1 that is encoded in the genome of human.


Tropical Disease

Infectious and parasitic diseases endemic in tropical and subtropical zones, including Chagas' disease, leishmaniasis, leprosy, malaria, onchocerciasis, schistosomiasis, sleeping sickness, yellow fever, and others; often water- or insect-borne.


infection by Trypanosoma gambiense

Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.


early yaws

Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly.


infection by Trypanosoma rhodesiense

An infection with Trypanosoma brucei rhodesiense.


late yaws

Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints.


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


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


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


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


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


chronic lymphoproliferative disorder of NK-cells

An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged.


autosomal recessive early-onset Parkinson disease 23

Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene.


Parkinson disease 17

Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene.


juvenile onset Parkinson disease 19A

Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.


Parkinson disease 21

Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene.


Kufor-Rakeb syndrome

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.


autosomal recessive juvenile Parkinson disease 2

A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia.


early-onset Parkinson disease 20

Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.


parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development


parkinsonian-pyramidal syndrome

A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.


late-onset Parkinson disease

A Parkinson disease that begins after around the age of 50.


autosomal dominant Parkinson disease 8

Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.


autosomal recessive early-onset Parkinson disease 7

Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene.


young-onset Parkinson disease

A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.


autosomal dominant Parkinson disease 4

A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22.


Parkinson disease 22, autosomal dominant

Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene.


autosomal recessive early-onset Parkinson disease 6

Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene.


autosomal recessive Parkinson disease 14

A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.


hymenolepiasis

A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability.


Grade 3 Large Bowel Mucositis or Stomatitis by Clinical Examination Classification, CTCAE


Grade 5 Tracheal Fistula, CTCAE

Death


receptor-type tyrosine-protein kinase FLT3 sequence variant K663Q, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Gln residue at the position equivalent to Lys-663 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Lys-663, CHEBI:30011.


receptor-type tyrosine-protein kinase FLT3

A CSF-1/PDGF receptor-type tyrosine-protein kinase that is a translation product of the human FLT3 gene or a 1:1 ortholog thereof.


receptor-type tyrosine-protein kinase FLT3 sequence variant V579E, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Glu residue at the position equivalent to Val-579 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Val-579, CHEBI:29972.


receptor-type tyrosine-protein kinase FLT3 sequence variant K663R, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Arg residue at the position equivalent to Lys-663 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Lys-663, CHEBI:29952.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835V, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Val residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asp-835, CHEBI:30015.


receptor-type tyrosine-protein kinase FLT3 sequence variant S451F, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Phe residue at the position equivalent to Ser-451 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Ser-451, CHEBI:29997|Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048.


receptor-type tyrosine-protein kinase FLT3 sequence variant Y842H, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a His residue at the position equivalent to Tyr-842 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Tyr-842, CHEBI:29979.


receptor-type tyrosine-protein kinase FLT3 sequence variant V579E, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Glu residue at the position equivalent to Val-579 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Val-579, CHEBI:29972|Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048.


receptor-type tyrosine-protein kinase FLT3 isoform h2 (human)

A receptor-type tyrosine-protein kinase FLT3 (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:P36888-2.


receptor-type tyrosine-protein kinase FLT3 sequence variant D839H, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a His residue at the position equivalent to Asp-839 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asp-839, CHEBI:29979.


receptor-type tyrosine-protein kinase FLT3 sequence variant N841Y, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Tyr residue at the position equivalent to Asn-841 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asn-841, CHEBI:46858.


receptor-type tyrosine-protein kinase FLT3 sequence variant V579I, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ile residue at the position equivalent to Val-579 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Val-579, CHEBI:30009.


receptor-type tyrosine-protein kinase FLT3, signal peptide removed phosphorylated 2 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has had the signal peptide removed and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969 of the amino acid sequence represented by UniProtKB:P36888-1. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048.


receptor-type tyrosine-protein kinase FLT3 sequence variant F594I, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ile residue at the position equivalent to Phe-594 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Phe-594, CHEBI:30009.


receptor-type tyrosine-protein kinase FLT3 sequence variant F691V, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Val residue at the position equivalent to Phe-691 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Phe-691, CHEBI:30015.


receptor-type tyrosine-protein kinase FLT3 sequence variant K663N, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Asn residue at the position equivalent to Lys-663 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Lys-663, CHEBI:50347.


receptor-type tyrosine-protein kinase FLT3, signal peptide removed phosphorylated and ubiquitinated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has had the signal peptide removed, that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969 of the amino acid sequence represented by UniProtKB:P36888-1, and that includes at least 1 ubiquitinated lysine. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|MOD:01148.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835H, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a His residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asp-835, CHEBI:29979.


receptor-type tyrosine-protein kinase FLT3 sequence variant D839N, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Asn residue at the position equivalent to Asp-839 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asp-839, CHEBI:50347.


receptor-type tyrosine-protein kinase FLT3 sequence variant N676T, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Thr residue at the position equivalent to Asn-676 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asn-676, CHEBI:30013.


receptor-type tyrosine-protein kinase FLT3 sequence variant V592D, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Asp residue at the position equivalent to Val-592 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Val-592, CHEBI:29958.


receptor-type tyrosine-protein kinase FLT3 sequence variant D839Q, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Gln residue at the position equivalent to Asp-839 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asp-839, CHEBI:30011.


receptor-type tyrosine-protein kinase FLT3 sequence variant F594L, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Leu residue at the position equivalent to Phe-594 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Phe-594, CHEBI:30006.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835N, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Asn residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asp-835, CHEBI:50347.


receptor-type tyrosine-protein kinase FLT3 sequence variant N676S, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Ser residue at the position equivalent to Asn-676 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asn-676, CHEBI:29999.


receptor-type tyrosine-protein kinase FLT3 sequence variant N841T, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Thr residue at the position equivalent to Asn-841 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asn-841, CHEBI:30013.


receptor-type tyrosine-protein kinase FLT3 sequence variant D839N, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Asn residue at the position equivalent to Asp-839 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asp-839, CHEBI:50347.


receptor-type tyrosine-protein kinase FLT3 sequence variant F691L, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Leu residue at the position equivalent to Phe-691 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Phe-691, CHEBI:30006.


receptor-type tyrosine-protein kinase FLT3 sequence variant D839Q, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Gln residue at the position equivalent to Asp-839 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asp-839, CHEBI:30011.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835A, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ala residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asp-835, CHEBI:46217.


receptor-type tyrosine-protein kinase FLT3 sequence variant V579L, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Leu residue at the position equivalent to Val-579 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Val-579, CHEBI:30006|Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048.


receptor-type tyrosine-protein kinase FLT3 sequence variant Y842C, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Cys residue at the position equivalent to Tyr-842 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Tyr-842, CHEBI:29950.


receptor-type tyrosine-protein kinase FLT3 sequence variant N676D, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Asp residue at the position equivalent to Asn-676 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asn-676, CHEBI:29958.


receptor-type tyrosine-protein kinase FLT3 sequence variant Y842C, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Cys residue at the position equivalent to Tyr-842 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Tyr-842, CHEBI:29950.


receptor-type tyrosine-protein kinase FLT3 sequence variant V592A, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ala residue at the position equivalent to Val-592 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Val-592, CHEBI:46217.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835F, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Phe residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asp-835, CHEBI:29997.


receptor-type tyrosine-protein kinase FLT3 sequence variant Y572C, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Cys residue at the position equivalent to Tyr-572 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Tyr-572, CHEBI:29950.


receptor-type tyrosine-protein kinase FLT3 sequence variant A627P, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Pro residue at the position equivalent to Ala-627 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Ala-627, CHEBI:50342.


receptor-type tyrosine-protein kinase FLT3 sequence variant F594S, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Ser residue at the position equivalent to Phe-594 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Phe-594, CHEBI:29999.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835A, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ala residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asp-835, CHEBI:46217.


receptor-type tyrosine-protein kinase FLT3 sequence variant V592G, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Gly residue at the position equivalent to Val-592 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Val-592, CHEBI:29947.


receptor-type tyrosine-protein kinase FLT3 sequence variant F691I, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ile residue at the position equivalent to Phe-691 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Phe-691, CHEBI:30009.


receptor-type tyrosine-protein kinase FLT3 sequence variant D839H, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a His residue at the position equivalent to Asp-839 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asp-839, CHEBI:29979.


receptor-type tyrosine-protein kinase FLT3 sequence variant N841K, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Lys residue at the position equivalent to Asn-841 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asn-841, CHEBI:29967.


receptor-type tyrosine-protein kinase FLT3 sequence variant V579A, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ala residue at the position equivalent to Val-579 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Val-579, CHEBI:46217|Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835G, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Gly residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asp-835, CHEBI:29947.


receptor-type tyrosine-protein kinase FLT3 sequence variant R834Q, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Gln residue at the position equivalent to Arg-834 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Arg-834, CHEBI:30011.


receptor-type tyrosine-protein kinase FLT3 sequence variant F621L, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Leu residue at the position equivalent to Phe-621 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Phe-621, CHEBI:30006.


receptor-type tyrosine-protein kinase FLT3 sequence variant V592D, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Asp residue at the position equivalent to Val-592 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Val-592, CHEBI:29958.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835G, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Gly residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asp-835, CHEBI:29947.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835E, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Glu residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asp-835, CHEBI:29972.


receptor-type tyrosine-protein kinase FLT3 sequence variant F594S, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Ser residue at the position equivalent to Phe-594 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Phe-594, CHEBI:29999.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835Y, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Tyr residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asp-835, CHEBI:46858.


receptor-type tyrosine-protein kinase FLT3 sequence variant S451F, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Phe residue at the position equivalent to Ser-451 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Ser-451, CHEBI:29997.


receptor-type tyrosine-protein kinase FLT3 sequence variant F594L, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Leu residue at the position equivalent to Phe-594 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Phe-594, CHEBI:30006.


receptor-type tyrosine-protein kinase FLT3 sequence variant N841H, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a His residue at the position equivalent to Asn-841 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asn-841, CHEBI:29979.


receptor-type tyrosine-protein kinase FLT3 sequence variant N841Y, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Tyr residue at the position equivalent to Asn-841 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asn-841, CHEBI:46858.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835H, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a His residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asp-835, CHEBI:29979.


receptor-type tyrosine-protein kinase FLT3 sequence variant F594V, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Val residue at the position equivalent to Phe-594 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Phe-594, CHEBI:30015.


receptor-type tyrosine-protein kinase FLT3, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has had the signal peptide removed. UniProtKB:P36888, 27-993.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835Y, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Tyr residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asp-835, CHEBI:46858.


receptor-type tyrosine-protein kinase FLT3 sequence variant N676S, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Ser residue at the position equivalent to Asn-676 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asn-676, CHEBI:29999.


receptor-type tyrosine-protein kinase FLT3 sequence variant F691V, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Val residue at the position equivalent to Phe-691 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Phe-691, CHEBI:30015.


receptor-type tyrosine-protein kinase FLT3, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has had the signal peptide removed and that has been phosphorylated on the residues at the positions equivalent to Tyr-768 and Tyr-969 of the amino acid sequence represented by UniProtKB:P36888-1. Example: UniProtKB:P36888-1, 27-993, Tyr-768/Tyr-969, MOD:00048.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835E, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Glu residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asp-835, CHEBI:29972.


receptor-type tyrosine-protein kinase FLT3 sequence variant N676K, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Lys residue at the position equivalent to Asn-676 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asn-676, CHEBI:29967.


receptor-type tyrosine-protein kinase FLT3 sequence variant A848P, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Pro residue at the position equivalent to Ala-848 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Ala-848, CHEBI:50342.


receptor-type tyrosine-protein kinase FLT3 sequence variant N841I, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ile residue at the position equivalent to Asn-841 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asn-841, CHEBI:30009.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835F, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Phe residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asp-835, CHEBI:29997.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835V, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Val residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asp-835, CHEBI:30015.


receptor-type tyrosine-protein kinase FLT3 sequence variant V592G, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Gly residue at the position equivalent to Val-592 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Val-592, CHEBI:29947.


receptor-type tyrosine-protein kinase FLT3 sequence variant N841K, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Lys residue at the position equivalent to Asn-841 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asn-841, CHEBI:29967.


receptor-type tyrosine-protein kinase FLT3 sequence variant K663Q, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Gln residue at the position equivalent to Lys-663 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Lys-663, CHEBI:30011.


receptor-type tyrosine-protein kinase FLT3 sequence variant D839G, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Gly residue at the position equivalent to Asp-839 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asp-839, CHEBI:29947.


receptor-type tyrosine-protein kinase FLT3 sequence variant V579I, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ile residue at the position equivalent to Val-579 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Val-579, CHEBI:30009|Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048.


receptor-type tyrosine-protein kinase FLT3 sequence variant Y842H, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a His residue at the position equivalent to Tyr-842 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Tyr-842, CHEBI:29979.


receptor-type tyrosine-protein kinase FLT3 sequence variant N841T, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Thr residue at the position equivalent to Asn-841 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asn-841, CHEBI:30013.


receptor-type tyrosine-protein kinase FLT3 sequence variant N841I, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ile residue at the position equivalent to Asn-841 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asn-841, CHEBI:30009.


receptor-type tyrosine-protein kinase FLT3 sequence variant N676T, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Thr residue at the position equivalent to Asn-676 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Asn-676, CHEBI:30013.


receptor-type tyrosine-protein kinase FLT3 sequence variant F594I, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ile residue at the position equivalent to Phe-594 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Phe-594, CHEBI:30009.


receptor-type tyrosine-protein kinase FLT3 sequence variant K663R, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Arg residue at the position equivalent to Lys-663 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Lys-663, CHEBI:29952.


receptor-type tyrosine-protein kinase FLT3 sequence variant N841H, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a His residue at the position equivalent to Asn-841 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asn-841, CHEBI:29979.


receptor-type tyrosine-protein kinase FLT3 sequence variant N676K, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Lys residue at the position equivalent to Asn-676 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asn-676, CHEBI:29967.


receptor-type tyrosine-protein kinase FLT3 isoform h1 (human)

A receptor-type tyrosine-protein kinase FLT3 (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:P36888-1.


receptor-type tyrosine-protein kinase FLT3 sequence variant K663N, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Asn residue at the position equivalent to Lys-663 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Lys-663, CHEBI:50347.


receptor-type tyrosine-protein kinase FLT3 sequence variant V592A, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ala residue at the position equivalent to Val-592 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Val-592, CHEBI:46217.


receptor-type tyrosine-protein kinase FLT3 sequence variant V579A, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Ala residue at the position equivalent to Val-579 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Val-579, CHEBI:46217.


receptor-type tyrosine-protein kinase FLT3 sequence variant F691L, signal peptide removed phosphorylated 1 (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Leu residue at the position equivalent to Phe-691 of the amino acid sequence represented by UniProtKB:P36888-1, that has had the signal peptide removed, and that has been phosphorylated on the residues at the positions equivalent to Tyr-589, Tyr-591, Tyr-599, Tyr-768, Tyr-955, and Tyr-969. Example: UniProtKB:P36888-1, 27-993, Tyr-589/Tyr-591/Tyr-599/Tyr-768/Tyr-955/Tyr-969, MOD:00048|Phe-691, CHEBI:30006.


receptor-type tyrosine-protein kinase FLT3 sequence variant V579L, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Leu residue at the position equivalent to Val-579 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Val-579, CHEBI:30006.


receptor-type tyrosine-protein kinase FLT3 sequence variant D835N, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has an Asn residue at the position equivalent to Asp-835 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Asp-835, CHEBI:50347.


receptor-type tyrosine-protein kinase FLT3 sequence variant F594V, signal peptide removed form (human)

A receptor-type tyrosine-protein kinase FLT3 (human) that has a Val residue at the position equivalent to Phe-594 of the amino acid sequence represented by UniProtKB:P36888-1 and that has had the signal peptide removed. Example: UniProtKB:P36888-1, 27-993, Phe-594, CHEBI:30015.


congenital aortic valve insufficiency

Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.


Rheumatic tricuspid valve regurgitation

Tricuspid valve insufficiency secondary to rheumatic fever.


Congenital insufficiency of pulmonary valve

Dysfunction of the pulmonary valve characterized by incomplete valve closure that is present at birth.


Grade 4 Bone Marrow Hypocellular, CTCAE

Aplastic persistent for longer than 2 weeks


intracranial sinus thrombosis

Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects.


cavernous sinus thrombosis

Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)


Arteriovenous fistula stenosis

Narrowing of the lumen of an arteriovenous fistula.


Triple-Class Refractory Plasma Cell Myeloma

Multiple myeloma that is resistant to three classes of therapeutic agents, including proteasome inhibitors, immunomodulatory agents, and monoclonal antibodies.


aspartate aminotransferase, mitochondrial, transit peptide removed pyridoxal phosphate lysine 1 (human)

An aspartate aminotransferase, mitochondrial (human) that has had the transit peptide removed and has been post-translationally modified to include pyridoxal phosphate lysine at position 279 of the amino acid sequence represented by UniProtKB:P00505. UniProtKB:P00505, 30-430, Lys-279, MOD:00128.


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


hydroxycarboxylic acid receptor 2 isoform 1 (rat)

A hydroxycarboxylic acid receptor 2 isoform 1 that is encoded in the genome of rat.


hydroxycarboxylic acid receptor 2

A hydroxycarboxylic acid receptor protein that is a translation product of the human HCAR2 gene or a 1:1 ortholog thereof.


hydroxycarboxylic acid receptor 2 isoform 1 (mouse)

A hydroxycarboxylic acid receptor 2 isoform 1 that is encoded in the genome of mouse.


apocrine sweat gland disorder

A disease that involves the apocrine sweat gland.


familial acne inversa

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


acne inversa, familial, 3

Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.


acne inversa, familial, 2

Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.


apocrine adenoma

A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma.


apocrine sweat gland cancer

A malignant neoplasm involving the apocrine sweat gland.


acne inversa, familial, 1

Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene.


apocrine sweat gland neoplasm

A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma.


Dextrocardia Situs Solitus

A congenital heart defect in which the heart is located in the right side and the other organs are in their normal position.


Recurrent Childhood Pineoblastoma

The reemergence of pineoblastoma in childhood after a period of remission.


Trichomonas prostatitis

Infection of the prostate gland caused by Trichomonas vaginalis.


Blasts 9 Percent or Less of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 9 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


TGF-beta receptor type-1, signal peptide removed ubiquitinated form (human)

A TGF-beta receptor type-1 (human) that has had the signal peptide removed and that includes at least one ubiquitinated lysine. UniProtKB:P36897, 34-503, MOD:01148.


Renal Tubular Acidosis Associated With Deafness

Renal tubular acidosis associated with sensorineural hearing loss, and which is typically associated with recessive mutations.


Fetal acidosis

An abnormally high hydrogen ion concentration (umbilical arterial blood pH less than 7.00) in fetal blood or tissue.


Autosomal Recessive Distal Renal Tubular Acidosis-4 with Hemolytic Anemia

An autosomal recessive type of distal renal tubular acidosis caused by mutation(s) in the SLC4A1 gene, encoding band 3 anion transport protein. Additionally, it may be characterized by hemolytic anemia.


Refractory Chronic Myelomonocytic Leukemia

Chronic myelomonocytic leukemia that is resistant to treatment.


Wilson-Turner syndrome

A very rare genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.


mitogen-activated protein kinase 7 isoform h2 (human)

A mitogen-activated protein kinase 7 (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:Q13164-2.


mitogen-activated protein kinase 7

A protein that is a translation product of the human MAPK7 gene or a 1:1 ortholog thereof.


mitogen-activated protein kinase 7 isoform h3 (human)

A mitogen-activated protein kinase 7 (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:Q13164-3.


mitogen-activated protein kinase 7, initiator methionine removed form (human)

A mitogen-activated protein kinase 7 (human) that has had the initiator methionine removed. UniProtKB:Q13164, 2-816.


mitogen-activated protein kinase 7, initiator methionine removed phosphorylated 2 (human)

A mitogen-activated protein kinase 7 (human) that has had the initiator methionine removed and has been post-translationally modified to include phosphothreonine at position 219, and phosphotyrosine at position 221 of the amino acid sequence represented by UniProtKB:Q13164. UniProtKB:Q13164, 2-816, Thr-219, MOD:00047|Tyr-221, MOD:00048.