name: next to BRCA1 gene 1 protein cysteinylated 1 (human)

description: A next to BRCA1 gene 1 protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-433 of the amino acid sequence represented by UniProtKB:Q14596-1. Example: UniProtKB:Q14596-1, Cys-433, MOD:00765.


name: a disintegrin and metalloproteinase with thrombospondin motifs 13 isoform h1 (human)

description: An a disintegrin and metalloproteinase with thrombospondin motifs 13 (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:Q76LX8-1.


Joubert syndrome 20

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

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.


protein SSX4 isoform h2 (human)

A protein SSX4 (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:O60224-2.


11-cis-retinyl palmitate

The 11-cis-isomer of retinyl palmitate.


asperentin-8-methyl ether

A member of the class of  isocoumarins that is asperentin in which the hydroxy group at position 8 has been replaced by a methoxy group. It is a fungal metabolite isolated from Chaetomium globosum.


melanotransferrin isoform 1 (human)

A melanotransferrin isoform 1 that is encoded in the genome of human.


(+)-phytocassane D

A phytocassane that is (+)-phytocassane A in which the hydroxy group at position 2 has been oxidised to the corresponding ketone, while the keto group at position 3 has been reduced to give the corresponding 3alpha hydroxy group.


DNA replication licensing factor MCM2

A protein that is a translation product of the human MCM2 gene or a 1:1 ortholog thereof.


name: DNA replication licensing factor MCM2, initiator methionine removed form (human)

description: A DNA replication licensing factor MCM2, initiator methionine removed form in human. UniProtKB:P49736, 2-904.


name: DNA replication licensing factor MCM2 phosphorylated 1 (human)

description: A DNA replication licensing factor MCM2 (human) that has been phosphorylated at Ser-108. UniProtKB:P49736, Ser-108, MOD:00046.


name: DNA replication licensing factor MCM2 isoform 1 (human)

description: A DNA replication licensing factor MCM2 isoform 1 that is encoded in the genome of human.


name: DNA replication licensing factor MCM2 cysteinylated 1 (human)

description: A DNA replication licensing factor MCM2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-584 of the amino acid sequence represented by UniProtKB:P49736. UniProtKB:P49736, Cys-584, MOD:00765.


name: lysosomal protective protein deaminated 2 (human)

description: A lysosomal protective protein (human) that has been deaminated on the residue at the position equivalent to Gln-380 of the amino acid sequence represented by UniProtKB:P10619-1. Example: UniProtKB:P10619-1, Gln-380, MOD:00685.


sestrin-3 isoform 1 (human)

A sestrin-3 isoform 1 that is encoded in the genome of human.


name: glucocorticoid receptor isoform hAlpha-D3 (human)

description: A glucocorticoid 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:P04150-16.


ovarian solid teratoma

description: A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present.


familial temporal lobe epilepsy 4

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.


name: integral membrane protein 2B deaminated 1 (human)

description: An integral membrane protein 2B (human) that has been deaminated on the residue at the position equivalent to Asn-211 of the amino acid sequence represented by UniProtKB:Q9Y287-1. Example: UniProtKB:Q9Y287-1, Asn-211, MOD:00684.


Cyanotic Body

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

description: Blue- or purplish-colored body; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the body.


Neonatal acrocyanosis

description: Transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn.


Cyanotic Limbs

description: Blue- or purplish-colored limbs; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the limbs.


Locally Advanced Endometrial Carcinoma

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


name: Locally Advanced Endometrial Adenocarcinoma

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


name: Locally Advanced Unresectable Endometrial Carcinoma

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


name: Locally Advanced Endometrial Endometrioid Adenocarcinoma

description: Endometrial endometrioid adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Stage IVB Thymoma AJCC v8

description: Stage IVB includes: (Any T, N2, M0, M1a); (Any T, Any N, M1b). N2: Metastasis in deep intrathoracic or cervical lymph nodes. M0: No distant metastasis. M1a: Separate pleural or pericardial nodule(s). M1b: Pulmonary intraparenchymal nodule or distant organ metastasis. (AJCC 8th ed.)


name: Stage IVB Thymic Epithelial Neoplasm AJCC v8


name: zinc finger protein 746 cysteinylated 1 (human)

description: A zinc finger protein 746 (human) that has been cysteinylated on the residue at the position equivalent to Cys-49 of the amino acid sequence represented by UniProtKB:Q6NUN9-1. Example: UniProtKB:Q6NUN9-1, Cys-49, MOD:00765.


A cholesterol ester in which the acyl group contains 20 carbons in total and 4 double bonds.


name: cellular tumor antigen p53 sequence variant S166* (human)

description: A cellular tumor antigen p53 (human) that has has been truncated after the position equivalent to Gln-165 of the amino acid sequence represented by UniProtKB:P04637-1. Example: UniProtKB:P04637-1, 1-165.


pediatric cerebral ependymoblastoma

description: An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children.


name: childhood cerebellar astrocytic neoplasm

description: Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood.


name: supratentorial ependymoma, ZFTA fusion–positive

description: A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.


childhood brainstem astrocytoma

description: An astrocytoma that arises from the brain stem and occurs during childhood.


astroblastoma

description: Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.


IDH-mutant anaplastic astrocytoma

description: An anaplastic astrocytoma carrying IDH mutations.


papillary glioneuronal tumor

description: A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present.


name: melanotic psammomatous malignant peripheral nerve sheath tumor

description: A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies.


tanycytic ependymoma

description: A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)


cerebral neuroblastoma

description: A neuroblastoma arising from the cerebral hemispheres.


name: childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered

description: A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.


name: spinal cord primitive neuroectodermal tumor

description: A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord.


brain stem astrocytic neoplasm

description: An astrocytoma that arises from the brain stem.


mediastinal schwannoma

description: A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative.


papillary ependymoma

description: A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)


adrenal gland ganglioneuroblastoma

description: A ganglioneuroblastoma arising from the adrenal gland.


pineal gland astrocytoma

description: A astrocytoma that involves the pineal body.


posterior fossa group A ependymoma

description: A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.


trigeminal schwannoma

description: A schwannoma that involves the trigeminal nerve.


Pacinian tumor

description: A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles.


adult anaplastic ependymoma

description: An anaplastic ependymoma occurring in adults.


optic tract astrocytoma

description: An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.


neurothekeoma

description: A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma.


name: peripheral primitive neuroectodermal tumor of bone

description: A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.


name: primitive neuroectodermal tumor of the corpus uteri

description: A primitive neuroectodermal tumor that involves the body of uterus.


extracranial neuroblastoma

description: A neuroblastoma arising from an anatomic site other than the brain.


spinal cord neuroblastoma

description: A neuroblastoma that affects the spinal cord.


spinal ependymoma, MYCN-amplified

description: A spinal cord ependymoma that is characterized by MYCN amplification.


name: neurofibromatosis, type III, mixed central and peripheral


name: malignant cardiac peripheral nerve sheath neoplasm

description: A very rare malignant peripheral nerve sheath tumor that arises from the heart.


adult brainstem astrocytoma

description: An astrocytoma of the brain stem that occurs during adulthood.


IDH-wildtype anaplastic astrocytoma

description: An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.


schwannoma of twelfth cranial nerve

description: A schwannoma that involves the hypoglossal nerve.


astrocytoma, IDH-mutant, grade 4

description: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.


adult pineal parenchymal tumor

description: A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults.


spinal cord oligodendroglioma

description: A oligodendroglioma that involves the spinal cord.


optic nerve astrocytoma

description: A astrocytoma (excluding glioblastoma) that involves the cranial nerve II.


posterior fossa group B ependymoma

description: A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.


adult brainstem gliosarcoma

description: A gliosarcoma of the brain stem that occurs during adulthood.


malignant triton tumor

description: Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation.


childhood optic nerve glioma

description: A glioma affecting the optic tract and occurring in childhood.


peripheral nerve schwannoma

description: A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.


name: stroma-dominant and stroma-poor composite ganglioneuroblastoma

description: A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume.


name: diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

description: A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.


name: high-grade astrocytoma with piloid features

description: An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.


name: pleomorphic xanthoastrocytoma BRAF mutant

description: An anaplastic pleomorphic xanthoastrocytoma that has material basis in BRAF mutations.


name: childhood central nervous system primitive neuroectodermal neoplasm

description: A central nervous system embryonal tumor, not otherwise specified that occurs in childhood.


atypical neurofibroma

description: A neurofibroma characterized by the presence of cellular pleomorphism.


name: supratentorial ependymoma, YAP1 fusion–positive

description: A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.


name: peripheral primitive neuroectodermal tumor of soft tissues

description: A small round cell tumor with neural differentiation arising from the soft tissues.


name: schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma

description: A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume.


peripheral ganglioneuroblastoma

description: A ganglioneuroblastoma arising from the peripheral nervous system.


chordoid glioma of the third ventricle

description: A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.


name: malignant melanocytic peripheral nerve sheath tumor of mediastinum

description: A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin.


name: malignant cutaneous granular cell skin tumor

description: A malignant granular cell tumor that arises from the skin.


neural glioblastoma

description: A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5.


name: diffuse astrocytoma, MYB- or MYBL1-altered

description: A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.


granular cell leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes.


name: benign mediastinal psammomatous neurilemmoma

description: A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies.


ependymal tumor of spinal cord

description: An ependymal tumor that arises from the spinal cord.


brain stem ependymoma

description: An ependymoma that arises from the brain stem.


name: adult embryonal tumor with multilayered rosettes, c19mc-altered

description: An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.


diffuse glioma, H3 G34 mutant

description: A histone mutated tumor that has material basis in mutations in codon 34 of the H3 histone family 3A protein.


classical glioblastoma

description: A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification.


adult brainstem glioma

description: A brain stem glioma that occurs in an adult.


myxopapillary ependymoma

description: Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.


astroblastoma, MN1-altered

description: An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q.


mediastinal granular cell myoblastoma

description: An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum.


name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2

description: An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis).


sympathetic neurilemmoma

description: A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus.


cellular ependymoma

description: An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)


adult oligodendroglioma

description: An oligodendroglioma occurring during adulthood.


name: IDH-mutant and 1p/19q-codeleted oligodendroglioma

description: An anaplastic oligodendroglioma that has material basis in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).


description: An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.


high grade astrocytic tumor

description: An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor).


malignant perineurioma

description: A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate.


cerebellar pilocytic astrocytoma

description: A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis.


name: intracranial primitive neuroectodermal tumor

description: A primitive neuroectodermal tumor that involves the brain.


adult pineoblastoma

description: A pineoblastoma occurring in adults.


low grade astrocytic tumor

description: A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).


infant-type hemispheric glioma

description: A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.


gemistocytic astrocytoma

description: A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)


name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3

description: An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas.


adult brainstem mixed glioma

description: A mixed glioma of the brain stem that occurs during adulthood.


description: A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components.


name: intermixed schwannian stroma-rich ganglioneuroblastoma

description: A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules.


adult infiltrating astrocytic neoplasm

description: An infiltrating astrocytic tumor of the brain occurring in adults.


plexiform schwannoma

description: A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck.


cerebral astrocytoma

description: An astrocytoma that arises from the cerebral hemispheres.


epithelioid neurofibroma

description: A rare neurofibroma with epithelioid morphology.


childhood optic tract astrocytoma

description: An astrocytoma that arises from the visual pathway and occurs during childhood.


name: diffuse low-grade glioma, MAPK pathway–altered

description: A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.


nasal ganglioglioma

description: Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.


RELA fusion-positive ependymoma

description: A supratentorial ependymoma characterized by a gene fusion involving ZFTA and RELA genes. It accounts for the majority of supratentorial ependymomas in children. It has an unfavorable outcome when compared to other ependymoma subtypes.


cellular schwannoma

description: A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies.


extraneural perineurioma

description: Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.


cerebellar astrocytoma

description: Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative.


adult malignant schwannoma

description: A malignant peripheral nerve sheath tumor occurring during adulthood.


adult brain ependymoma

description: An ependymoma of the brain occurring in adults.


intraneural perineurioma

description: A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells.


retinal neuroblastoma

description: A neuroblastoma arising from the retina.


ependymal tumor of brain

description: A tumor arising from the ependymal lining of the ventricles.


vulvar granular cell tumor

description: A usually benign granular cell tumor that arises from the vulva.


mixed astrocytoma-ependymoma

description: A tumor of mixed cell type with astrocytic components as well as ependymoma components.


diffuse midline glioma, H3 K27M-mutant

description: A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.


mediastinum ganglioneuroblastoma

description: A ganglioneuroblastoma arising from the mediastinum.


name: epithelioid malignant peripheral nerve sheath tumor

description: A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells.


Askin tumor

description: A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma.


protoplasmic astrocytoma

description: A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)


mediastinal melanocytic neurilemmoma

description: A melanotic schwannoma that affects the mediastinum.


neurohypophysis granular cell tumor

description: A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)


nodular ganglioneuroblastoma

description: A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules.


name: YAP1-MAMLD1 fusion-positive supratentorial ependymoma

description: A supratentorial ependymoma that has material basis in YAP1-MAMLD1 fusion.


childhood malignant schwannoma

description: A malignant peripheral nerve sheath tumor occurring in children.


supratentorial ependymal tumor

description: An ependymal tumor arising from the supratentorial region of the brain.


adult spinal cord ependymoma

description: An ependymoma of the spinal cord occurring in adults.


frontal lobe ependymal tumor

description: An ependymal tumor affecting the frontal lobe of the brain.


angiocentric glioma

description: Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.


infratentorial ependymal tumor

description: An ependymal tumor arising from the infratentorial region of the brain.


mediastinum neurofibroma

description: A neurofibroma that arises from the posterior mediastinum. Excision is usually curative.


name: cauda equina intradural extramedullary astrocytoma


nasal cavity olfactory neuroblastoma

description: An olfactory neuroblastoma arising in the nasal cavity.


corpus callosum oligodendroglioma

description: A oligodendroglioma that involves the corpus callosum.


name: malignant melanocytic neoplasm of the peripheral nerve sheath

description: A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin.


astrocytoma, IDH-mutant, grade 3

description: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.


cutaneous ganglioneuroma

description: A ganglioneuroma arising from the skin.


adult spinal cord glioblastoma

description: A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)


name: central nervous system tumor with bcor internal tandem duplication

description: A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.


parietal lobe ependymal tumor

description: An ependymal tumor affecting the parietal lobe of the brain.


schwannoma of ureter

description: A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter.


mediastinum neuroblastoma

description: A neuroblastoma arising from the mediastinum.


diencephalic astrocytomas

description: A astrocytoma that involves the diencephalon.


microcystic/reticular schwannoma

description: The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue.


cellular neurofibroma

description: A neurofibroma characterized by the presence of areas with increased cellularity.


description: Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.


astrocytoma, IDH-mutant, grade 2

description: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.


pediatric infratentorial ependymoma

description: An ependymoma that arises from the infratentorial region of the brain and occurs during childhood.


cns neuroblastoma with FOXR2 activation

description: A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo.


cutaneous granular cell tumor

description: A granular cell tumor that involves the zone of skin.


breast granular cell tumor

description: A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm.


schwannomatosis

description: The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.


supratentorial ependymoma

description: A high grade ependymoma that is located within the supratentorial brain.


name: adult central nervous system primitive neuroectodermal neoplasm

description: A central nervous system embryonal tumor, not otherwise specified that occurs in adults.


congenital epulis

description: A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative.


pediatric supratentorial ependymoma

description: An ependymoma that arises from the supratentorial region of the brain and occurs during childhood.


childhood cerebral astrocytoma

description: An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children.


fibrillary astrocytoma

description: The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)


neurilemmoma of the pleura

description: A schwannoma that involves the pleura.


name: malignant glandular tumor of peripheral nerve sheath

description: A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium.


adult astrocytic tumor

description: An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma.


childhood oligodendroglioma

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


schwannoma of jugular foramen

description: A rare intracranial schwannoma that affects the jugular foramen.


name: structural maintenance of chromosomes protein 5 isoform 1 (human)

description: A structural maintenance of chromosomes protein 5 isoform 1 that is encoded in the genome of human.


glycophorin-A O-glycosylated 9 (human)

A glycophorin-A (human) that has been O-glycosylated at the residue equivalent to Ser-21 of the amino acid sequence represented by UniProtKB:P02724-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P02724-1, Ser-21, MOD:00002~GNO:G65562ZE.


disulfide

Compounds of structure RSSR'.


A pyridine alkaloid that is pyridine N-oxide substituted by a methyldisulfanyl group at position 2. Isolated from Allium stipitatum, it exhibits antibacterial activity.


A cholesteryl 6-O-acyl-beta-D-galactoside having 15-(ethyldisulfanyl)pentadecanoyl as the 6-O-acyl group.


GCB

An organic disulfide that is L-685,458 in which the C-terminal amide group is coupled to a biotin moiety via a long linker containing the disulfide group.


A beta-D-galactoside comprising methyl beta-D-galactoside having a 15-(ethyldisulfanyl)pentadecanoyl group attached at the 6-position.


ROSTRATIN D

An organic disulfide isolated from the whole broth of the marine-derived fungus Exserohilum rostratum and has been shown to exhibit antineoplastic activity.


D-cystine

The D-enantiomer of cystine.


ARANOTIN

An organic heterohexacyclic compound with antiviral and antibiotic properties that is isolated from Amauroascus aureus.


sporidesmin A

An organic heteropentacyclic compound that has formula C18H20ClN3O6S2, produced by the saprophyte fungus Pithomyces chartarum. It is a mycotoxin responsible for the hepatogenous photosensitisation disease facial eczema in ruminants.


lehualide K

An organic disulfide that is didecyl disulfide in which the hydrogens of the terminal methyl groups are replaced by 3,4-dimethoxy-5-methyl-2H-pyran-2-ones groups respectively. It has been isolated from the marine sponge of the genus Plakortis.


organic disulfide

Compounds of structure RSSR in which R and R' are organic groups.


ROSTRATIN A

An organic disulfide  isolated from the whole broth of the marine-derived fungus Exserohilum rostratum and has been shown to exhibit antineoplastic activity.


A beta-D-galactoside comprising phenyl beta-D-galactoside having a 15-(ethyldisulfanyl)pentadecanoyl group attached at the 6-position.


name: proteasome subunit alpha type-7 phosphorylated 1 (human)

description: A proteasome subunit alpha type-7 (human) that has been phosphorylated on the residue at the position equivalent to Ser-11 of the amino acid sequence represented by UniProtKB:O14818-1. Example: UniProtKB:O14818-1, Ser-11, MOD:00046.


activating signal cointegrator 1

A protein that is a translation product of the human TRIP4 gene or a 1:1 ortholog thereof.


name: activating signal cointegrator 1 deaminated 1 (human)

description: An activating signal cointegrator 1 (human) that has been deaminated on the residue at the position equivalent to Gln-425 of the amino acid sequence represented by UniProtKB:Q15650. UniProtKB:Q15650, Gln-425, MOD:00685.


name: activating signal cointegrator 1 glutathionylated 1 (human)

description: An activating signal cointegrator 1 (human) that has been glutathionylated on the residue at the position equivalent to Cys-86 of the amino acid sequence represented by UniProtKB:Q15650. UniProtKB:Q15650, Cys-86, MOD:00234.


name: activating signal cointegrator 1 isoform 1 (human)

description: An activating signal cointegrator 1 isoform 1 that is encoded in the genome of human.


protein DBF4 homolog B

A protein that is a translation product of the human DBF4B gene or a 1:1 ortholog thereof.


name: protein DBF4 homolog B isoform h2 (human)

description: A protein DBF4 homolog B (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:Q8NFT6-2.


name: protein DBF4 homolog B isoform h3 (human)

description: A protein DBF4 homolog B (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:Q8NFT6-3.


name: protein DBF4 homolog B isoform h4 (human)

description: A protein DBF4 homolog B (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:Q8NFT6-4.


name: protein DBF4 homolog B isoform h1 (human)

description: A protein DBF4 homolog B (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:Q8NFT6-1.


A naphthylmethanol that is methanol in which one of the hydrogens of the methyl group is replaced by a naphthalen-1-yl group.


naphthylmethanol

A primary alcohol that is methanol in which one of the methyl hydrogens has been replaced by a naphthyl or a substituted naphthyl group.


A naphthylmethanol that is methanol in which one of the methyl hydrogens has been replaced by a (2-naphthyl) group.


insulinoma-associated protein 1

A protein that is a translation product of the human INSM1 gene or a 1:1 ortholog thereof.


Recurrent Lung Neuroendocrine Neoplasm

description: The reemergence of a lung neuroendocrine neoplasm after a period of remission.


name: protein-tyrosine sulfotransferase 1 isoform 1 (human)

description: A protein-tyrosine sulfotransferase 1 isoform 1 that is encoded in the genome of human.


name: vascular cell adhesion protein 1 O-glycosylated 3 (human)

description: A vascular cell adhesion protein 1 (human) that has been O-glycosylated at the residue equivalent to Thr-81 of the amino acid sequence represented by UniProtKB:P19320-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P19320-1, Thr-81, MOD:00005~GNO:G43417UB.


benign testicular sertoli cell tumor

description: A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent.


testicular sertoli cell tumor

description: A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course.


claudin-5 isoform 1 (human)

A claudin-5 isoform 1 that is encoded in the genome of human.


A protein that is a translation product of the human CLDN5 gene or a 1:1 ortholog thereof.


Refractory Childhood Lymphoma

description: Childhood Hodgkin or non-Hodgkin lymphoma that is resistant to treatment.


Refractory Childhood Hodgkin Lymphoma

description: Hodgkin lymphoma that occurs during childhood and is resistant to treatment.


delta-sarcoglycan

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


delta-sarcoglycan isoform h2 (human)

A delta-sarcoglycan (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:Q92629-2.


delta-sarcoglycan isoform h3 (human)

A delta-sarcoglycan (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:Q92629-3.


delta-sarcoglycan isoform 1 (human)

A delta-sarcoglycan isoform 1 that is encoded in the genome of human.


name: serine/threonine-protein kinase receptor R3 sequence variant L285F (human)

description: A serine/threonine-protein kinase receptor R3 (human) that has a Phe residue at the position equivalent to Leu-285 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, Leu-285, CHEBI:29997.


Sarcoma GX

description: A sarcoma in which the grade cannot be evaluated.


name: ferredoxin-2, mitochondrial, transit peptide removed form (human)

description: A ferredoxin-2, mitochondrial (human) that has had the transit peptide removed. UniProtKB:Q6P4F2, 56-186.


name: ferredoxin-2, mitochondrial isoform h2 (human)

description: A ferredoxin-2, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6P4F2-2.


name: ferredoxin-2, mitochondrial isoform h1 (human)

description: A ferredoxin-2, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6P4F2-1.


protein SOX-15 isoform h1 (human)

A protein SOX-15 (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:O60248-1.


name: RNA-binding protein FXR1 isoform A (human)

description: An RNA-binding protein FXR1 isoform A that is encoded in the genome of human.


name: tryptophan--tRNA ligase, cytoplasmic, initiator methionine removed form (human)

description: A tryptophan--tRNA ligase, cytoplasmic (human) that has had the initiator methionine removed. UniProtKB:P23381, 2-471.


UDP-D-apiose

A UDP-sugar having D-apiose as the sugar portion.


UDP-alpha-D-apiose

A UDP-D-apiose in which the anomeric centre of the apiose fragment has alpha-configuration.


name: UDP-glucose:glycoprotein glucosyltransferase 1 deaminated 2 (human)

description: A UDP-glucose:glycoprotein glucosyltransferase 1 (human) that has been deaminated on the residue at the position equivalent to Gln-1210 of the amino acid sequence represented by UniProtKB:Q9NYU2-1. Example: UniProtKB:Q9NYU2-1, Gln-1210, MOD:00685.


name: UDP-glucose:glycoprotein glucosyltransferase 1, signal peptide removed form (human)

description: A UDP-glucose:glycoprotein glucosyltransferase 1 (human) that has had the signal peptide removed. UniProtKB:Q9NYU2, 43-1555.


name: UDP-glucose:glycoprotein glucosyltransferase 1 hydroxylated 1 (human)

description: A UDP-glucose:glycoprotein glucosyltransferase 1 (human) that has been hydroxylated on the residue at the position equivalent to Pro-1088 of the amino acid sequence represented by UniProtKB:Q9NYU2-1. Example: UniProtKB:Q9NYU2-1, Pro-1088, MOD:00678.


name: UDP-glucose:glycoprotein glucosyltransferase 1 isoform h2 (human)

description: A UDP-glucose:glycoprotein glucosyltransferase 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:Q9NYU2-2.


name: UDP-glucose:glycoprotein glucosyltransferase 1 acetylated 1 (human)

description: A UDP-glucose:glycoprotein glucosyltransferase 1 (human) that has been acetylated on the residue at the position equivalent to Lys-1211 of the amino acid sequence represented by UniProtKB:Q9NYU2-1. Example: UniProtKB:Q9NYU2-1, Lys-1211, MOD:00723.


name: UDP-glucose:glycoprotein glucosyltransferase 1 deaminated 3 (human)

description: A UDP-glucose:glycoprotein glucosyltransferase 1 (human) that has been deaminated on the residue at the position equivalent to Gln-809 of the amino acid sequence represented by UniProtKB:Q9NYU2-1. Example: UniProtKB:Q9NYU2-1, Gln-809, MOD:00685.


name: UDP-glucose:glycoprotein glucosyltransferase 1 deaminated 1 (human)

description: A UDP-glucose:glycoprotein glucosyltransferase 1 (human) that has been deaminated on the residue at the position equivalent to Gln-1243 of the amino acid sequence represented by UniProtKB:Q9NYU2-1. Example: UniProtKB:Q9NYU2-1, Gln-1243, MOD:00685.


name: UDP-glucose:glycoprotein glucosyltransferase 1 isoform h1 (human)

description: A UDP-glucose:glycoprotein glucosyltransferase 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:Q9NYU2-1.


name: developmental and epileptic encephalopathy, 86


name: phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein methylated 3 (human)

description: A phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein (human) that has been methylated on the residue at the position equivalent to Cys-1572 of the amino acid sequence represented by UniProtKB:Q8TCU6-1. Example: UniProtKB:Q8TCU6-1, Cys-1572, MOD:00660.


name: exosome complex component 10 isoform h1 (human)

description: An exosome complex component 10 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q01780-1.


Tuberculous bronchopneumonia

description: Acute and progressive bronchopneumonia caused by Mycobacterium tuberculosis bacteria.  It is characterized by widespread pulmonary patchy consolidations.


Advanced HER2-Low Breast Carcinoma

description: A HER2-low breast adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: DNA replication complex GINS protein PSF3 isoform 1 (human)

description: A DNA replication complex GINS protein PSF3 isoform 1 that is encoded in the genome of human.


name: DNA replication complex GINS protein PSF3 isoform h3 (human)

description: A DNA replication complex GINS protein PSF3 (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:Q9BRX5-3.


name: DNA replication complex GINS protein PSF3 isoform h2 (human)

description: A DNA replication complex GINS protein PSF3 (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:Q9BRX5-2.


AJUGACILIATIN G

A  diterpene lactone isolated from the whole plants of Ajuga ciliata.


name: combined oxidative phosphorylation defect type 30

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.


name: YY1-associated protein 1 isoform h7 (human)

description: A YY1-associated 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:Q9H869-7.


name: protein Hook homolog 1 methylated 3 (human)

description: A protein Hook homolog 1 (human) that has been methylated on the residue at the position equivalent to Cys-652 of the amino acid sequence represented by UniProtKB:Q9UJC3-1. Example: UniProtKB:Q9UJC3-1, Cys-652, MOD:00660.


name: trafficking protein particle complex subunit 9

description: A protein that is a translation product of the human TRAPPC9 gene or a 1:1 ortholog thereof.


name: trafficking protein particle complex subunit 9 methylated 1 (human)

description: A trafficking protein particle complex subunit 9 (human) that has been methylated on the residue at the position equivalent to Cys-1142 of the amino acid sequence represented by UniProtKB:Q96Q05-1. Example: UniProtKB:Q96Q05-1, Cys-1142, MOD:00660.


name: trafficking protein particle complex subunit 9 isoform 1 (human)

description: A trafficking protein particle complex subunit 9 isoform 1 that is encoded in the genome of human.


name: trafficking protein particle complex subunit 9 isoform 3 (human)

description: A trafficking protein particle complex subunit 9 isoform 3 that is encoded in the genome of human.


name: trafficking protein particle complex subunit 9 isoform h2 (human)

description: A trafficking protein particle complex subunit 9 (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:Q96Q05-2.


A phosphatidylethanolamine 36:1 in which one acyl group has 18 carbons and is fully saturated while the other has 18 carbons and 1 double bond (position not specified).


phosphatidylethanolamine 36:1

A phosphatidylethanolamine in which the two acyl groups contain a total of 36 carbons and 1 double bond.


sulfopin

A sulfone that is thiolane substituted by two oxo groups at position 1 and by a (chloroacetyl)(2,2-dimethylpropyl)amino group at position 3. It is a covalent inhibitor of Pin1 (Ki = 17 nM) that inhibits Myc-driven tumors in vivo.


sulfolane

A member of the class of tetrahydrothiophenes that is tetrahydrothiophene in which the sulfur has been oxidised to give the corresponding sulfone. A colourless, high-boiling (285degreeC) liquid that is miscible with both water and hydrocarbons, it is used as an industrial solvent, particularly for the purification of hydrocarbon mixtures by liquid-vapour extraction.


name: deficiency of uridine monophosphate synthase, non-human animal

description: Deficiency of uridine monophosphate synthase that occurs in non-human animals.


name: deficiency of uridine monophosphate synthase, cattle

description: Deficiency of uridine monophosphate synthase that occurs in cattle.


name: tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform h2 (human)

description: A tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase (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:Q9UET6-2.


andrastin B

A 17-oxo steroid that is andrastin C in which a hydrogen of the methyl group at position 19 has been replaced by a hydroxy group. A farnesyltransferase inhibitor produced by Penicillium roqueforti, a filamentous fungus involved in the ripening of several kinds of blue cheeses.


15-hydroxy steroid

A hydroxy steroid carrying a hydroxy group at position 15.


Progesterone in which the hydrogen at the 15beta position is substituted by a hydroxy group.


A 3beta-hydroxysteroid consisting of 3beta-hydroxy-5alpha-cholest-8(14)-ene having an additional hydroxy group at the 15beta-position.


15alpha-hydroxy steroid

A 15-hydroxy steroid in which the hydroxy group at position 15 has an alpha-configuration.


andrastin F

A 17-oxo steroid that is andrastin D in which the keto group at position 3 has undergone formal reduction to give the corresponding 3beta-hydroxy compound.


An androstanoid that is testosterone substituted by a alpha-hydroxy group at position 15. A natural product found in Daphnia magna exposed to the biocide tributyltin.


andrastin E

A 17-oxo steroid that is andrastin D in which the keto group at position 3 has undergone formal reduction to give the corresponding 3alpha-hydroxy compound.


A 3beta-hydroxysteroid consisting of 3beta-hydroxy-5alpha-cholestane having an additional hydroxy group at the 15beta-position.


urolithiasis, Red shanked douc langur

description: Urolithiasis that occurs in Red shanked douc langur.


name: dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 1 (human)

description: A dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2 that is encoded in the genome of human.


name: serine/threonine-protein kinase Nek10 isoform h1 (human)

description: A serine/threonine-protein kinase Nek10 (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:Q6ZWH5-1.


name: chymotrypsin-like elastase family member 3B N-glycosylated 7 (human)

description: A chymotrypsin-like elastase family member 3B (human) that has been N-glycosylated at the residue equivalent to Asn-114 of the amino acid sequence represented by UniProtKB:P08861-1, in which the glycan structure is represented by GlyTouCan:G27919IH. Example: UniProtKB:P08861-1, Asn-114, MOD:00160~GNO:G27919IH.


name: Ovarian Mucinous Cystic Tumor with Mural Nodules

description: A mucinous cystic tumor of the ovary characterized by the presence of one or more well circumscribed solid nodules in the wall of the cysts (mural nodules) that protrude into the lumen.  The mural nodules may be benign (sarcoma-like) or malignant.  The malignant mural nodules histologically are anaplastic carcinomas, carcinosarcomas, or sarcomas.  The clinical course depends on the histology of the mural nodules.  The prognosis of mucinous cystic tumors with benign mural nodules is the same as the corresponding types of mucinous cystic tumors without the mural nodules.  Mucinous cystic tumors with malignant mural nodules may follow a malignant clinical course.


utrophin deaminated 5 (human)

A utrophin (human) that has been deaminated on the residue at the position equivalent to Gln-750 of the amino acid sequence represented by UniProtKB:P46939-1. Example: UniProtKB:P46939-1, Gln-750, MOD:00685.


Epithelioid sarcoma recurrent

description: The reemergence of epithelioid sarcoma after a period of remission


name: proline-rich protein 12 isoform h1 (human)

description: A proline-rich protein 12 (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:Q9ULL5-3.


proline-rich protein 12

A protein that is a translation product of the human PRR12 gene or a 1:1 ortholog thereof.


name: proline-rich protein 12 deaminated 1 (human)

description: A proline-rich protein 12 (human) that has been deaminated on the residue at the position equivalent to Asn-1117 of the amino acid sequence represented by UniProtKB:Q9ULL5-3. Example: UniProtKB:Q9ULL5-3, Asn-1117, MOD:00684.


name: proline-rich protein 12 isoform h2 (human)

description: A proline-rich protein 12 (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:Q9ULL5-2.


Metastatic Neoplasm to the Placenta

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


Placental polyp

description: A polyp in the uterine cavity that is formed by placenta remnants.


benign neoplasm of placenta

description: A benign neoplasm that involves the placenta.


Metastatic Hydatidiform Mole

description: The spread of abnormal molar chorionic villi from an invasive hydatidiform mole in the uterine cavity to other anatomic sites, usually the vaginal wall and pelvis.


name: SH3 domain-binding glutamic acid-rich protein isoform h2 (human)

description: An SH3 domain-binding glutamic acid-rich protein (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:P55822-2.


name: delta-1-pyrroline-5-carboxylate synthase isoform Short (human)

description: A delta-1-pyrroline-5-carboxylate synthase isoform 2 that is encoded in the genome of human.


semaphorin-5B isoform h3 (human)

A semaphorin-5B (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:Q9P283-3.


An unsaturated fatty acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of (17Z,20Z,23Z,26Z,29Z)-dotriacontapentaenoic acid.


name: pre-rRNA-processing protein TSR1 homolog cysteinylated 1 (human)

description: A pre-rRNA-processing protein TSR1 homolog (human) that has been cysteinylated on the residue at the position equivalent to Cys-618 of the amino acid sequence represented by UniProtKB:Q2NL82. UniProtKB:Q2NL82, Cys-618, MOD:00765.


pericardium cancer

description: A malignant neoplasm involving the pericardium.


Pericardial Sarcoma

description: A rare sarcoma that arises from the pericardium. The two most common types are angiosarcoma and synovial sarcoma. Patients present with symptoms related to pericardial effusion.


Pericarditis malignant

description: Pericarditis caused by the infiltration of the pericardium by a malignant neoplasm.  The diagnosis is based on the cytological examination of pericardial fluid or the histologic examination of pericardial tissue.


name: Metastatic malignant neoplasm to pericardium

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


name: Pericardial mesothelioma malignant recurrent

description: The reemergence of malignant mesothelioma in the pericardium after a period of remission.


Pericardial Primary Effusion Lymphoma

description: Primary effusion lymphoma that affects the pericardial cavity. The majority of patients are HIV-positive men.


Pericardial Yolk Sac Tumor

description: A yolk sac tumor that arises within the pericardium.


Pericardial Carcinomatosis

description: Carcinoma that has spread diffusely to the pericardium.


Pericardial Synovial Sarcoma

description: A rare synovial sarcoma that arises from the pericardium. Patients present with symptoms related to pericardial effusion.


Malignant Pericardial Germ Cell Tumor

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


Pericardial Angiosarcoma

description: A rare angiosarcoma that arises from the pericardium. Patients present with symptoms related to pericardial effusion.


name: intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type


name: pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 isoform h2 (human)

description: A pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 (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:Q92620-2.


endogenous depression

description: Depression which is considered strictly biological.


smad4 sequence variant G352R (human)

A mothers against decapentaplegic homolog 4 (human) that has an Arg residue at the position equivalent to Gly-352 of the amino acid sequence represented by UniProtKB:Q13485. UniProtKB:Q13485, Gly-352, CHEBI:29952.


hapten OTAf

A synthetic phenylalanine derivative consisting of a 1:1 diatereoisomeric mixture of ochratoxin A and its isochromenyl C-3 epimer.


hapten OTAd

A synthetic phenylalanine derivative derived formally from the mycotoxin ochratoxin A by replacement of the methyl group  at position 3 of the isochromene ring with a 4-carboxybutyl group.


hapten OTAe

A synthetic phenylalanine derivative derived formally from the mycotoxin ochratoxin A by amide formation between its carboxy group and 6-aminohexanoic acid.


ochratoxin A

A phenylalanine derivative resulting from the formal condensation of the amino group of L-phenylalanine with the carboxy group of (3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-carboxylic acid (ochratoxin alpha). It is among the most widely occurring food-contaminating mycotoxins, produced by Aspergillus ochraceus, Aspergillus carbonarius and Penicillium verrucosum.


hapten OTAb

A synthetic phenylalanine derivative derived formally from the mycotoxin ochratoxin A by substitution at position 4 of the phenyl ring with a 5-carboxypentyl group.


Finding During Childbirth Labor

description: Symptom, signs, test results in a pregnant mother childbirth.


Prolonged second stage of labor

description: At least 2 hours of pushing in multiparous women and at least 3 hours of pushing in nulliparous women. Longer durations may be appropriate on an individualized basis (e.g., with the use of epidural analgesia or with fetal malposition) as long as progress is being documented.


Hypotonic uterine inertia

description: Greater than 20 hours of labor in nulliparous women and greater than 14 hours in parous women.


Arrested active phase of labor

description: More than or equal to 6 cm dilation with membrane rupture and one of the following: 4 hours or more of adequate contractions (e.g. more than 200 Montevideo units), 6 hours or more of inadequate contractions and no cervical change.


(R,S)-fenoxanil

The stereoisomer of N-(2-cyano-3-methylbutan-2-yl)-2-(2,4-dichlorophenoxy)propanamide obtained by formal condensation of the carboxy group of (R)-2-(2,4-dichlorophenoxy)propanoic acid with the amino group of (S)-2-amino-2,3-dimethylbutanenitrile.


name: OCIA domain-containing protein 2 methylated 2 (human)

description: An OCIA domain-containing protein 2 (human) that has been methylated on the residue at the position equivalent to Cys-106 of the amino acid sequence represented by UniProtKB:Q56VL3-1. Example: UniProtKB:Q56VL3-1, Cys-106, MOD:00660.


OCIA domain-containing protein 2

A protein that is a translation product of the human OCIAD2 gene or a 1:1 ortholog thereof.


name: OCIA domain-containing protein 2 isoform 1 (human)

description: An OCIA domain-containing protein 2 isoform 1 that is encoded in the genome of human.


name: OCIA domain-containing protein 2 methylated 1 (human)

description: An OCIA domain-containing protein 2 (human) that has been methylated on the residue at the position equivalent to Cys-46 of the amino acid sequence represented by UniProtKB:Q56VL3-1. Example: UniProtKB:Q56VL3-1, Cys-46, MOD:00660.


name: OCIA domain-containing protein 2 isoform h2 (human)

description: An OCIA domain-containing protein 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:Q56VL3-2.


name: OCIA domain-containing protein 2 cysteinylated 1 (human)

description: An OCIA domain-containing protein 2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-46 of the amino acid sequence represented by UniProtKB:Q56VL3-1. Example: UniProtKB:Q56VL3-1, Cys-46, MOD:00765.


name: Rho guanine nucleotide exchange factor 18 isoform h2 (human)

description: A Rho guanine nucleotide exchange factor 18 (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:Q6ZSZ5-5.


name: glycine receptor subunit alpha-3 isoform Alpha-3K (human)

description: A glycine receptor subunit alpha-3 isoform 2 that is encoded in the genome of human.


name: X-ray repair cross-complementing protein 5 deaminated 1 (human)

description: An X-ray repair cross-complementing protein 5 (human) that has been deaminated on the residue at the position equivalent to Gln-73 of the amino acid sequence represented by UniProtKB:P13010. UniProtKB:P13010, Gln-73, MOD:00685.


name: clathrin heavy chain 1 deaminated 6 (human)

description: A clathrin heavy chain 1 (human) that has been deaminated on the residue at the position equivalent to Asn-117 of the amino acid sequence represented by UniProtKB:Q00610-1. Example: UniProtKB:Q00610-1, Asn-117, MOD:00684.


name: Bladder carcinoma stage I, without cancer in situ

description: Stage I includes: T1, N0, M0.  T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th eds.)


Bladder Cancer by AJCC v7 Stage

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


Bladder squamous cell carcinoma stage 0

description: Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th Eds.)


name: Bladder transitional cell carcinoma stage II

description: Stage II includes: (T2a, N0, M0); (T2b, N0, M0).  T2a: Tumor invades superficial muscle (inner half).  T2b: Tumor invades deep muscle (outer half).  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th Eds.)


name: Stage 0a Bladder Urothelial Carcinoma AJCC v6 and v7

description: Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage III Bladder Cancer AJCC v6 and v7

description: Stage III includes: (T3a, N0, M0); (T3b, N0, M0); (T4a, N0, M0).  T3a: Tumor microscopically invades perivesical tissue.  T3b: Tumor macroscopically invades perivesical tissue (extravesical mass).  T4a: Tumor invades prostatic stroma, uterus, vagina.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th eds.)


name: Bladder carcinoma stage I, with cancer in situ

description: Stage I bladder carcinoma associated with the presence of bladder carcinoma in situ.


Stage IV Bladder Cancer AJCC v7

description: Stage IV includes: (T4b, N0, M0); (Any T, N1-3, M0); (Any T, Any N, M1).  T4b: Tumor invades pelvic wall, abdominal wall.  N0: No regional lymph node metastasis.  N1: Single regional lymph node metastasis in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node).  N2: Multiple regional lymph node metastases in the true pelvis (hypogastric, obturator, external iliac, or presacral lymph node metastasis).  N3: Metastasis to the common iliac lymph nodes.  M0: No distant metastasis.  M1: Distant metastasis.  (AJCC 7th ed.)


name: Bladder transitional cell carcinoma stage III


name: Bladder squamous cell carcinoma stage III


Bladder adenocarcinoma stage II

description: Stage II includes: (T2a, N0, M0); (T2b, N0, M0).  T2a: Tumor invades superficial muscle (inner half).  T2b: Tumor invades deep muscle (outer half).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


name: Bladder transitional cell carcinoma stage IV


name: Bladder squamous cell carcinoma stage IV


name: Bladder transitional cell carcinoma stage I


Stage 0 Bladder Carcinoma

description: Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0).  Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor".  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th Eds.)


name: Refractory Stage 0 Bladder Cancer AJCC v6 and v7

description: Stage 0 bladder cancer defined according to the AJCC v6 and v7 criteria that is resistant to treatment.


name: Bladder squamous cell carcinoma stage II


neuropeptide Y receptor

A rhodopsin-like G-protein coupled receptor that is a translation product of the human NPY1R, NPY2R, or NPY4R to NPY6R genes, 1:1 orthologs thereof, or a semi-ortholog thereof.


name: neuropeptide Y receptor type 4 isoform 1 (human)

description: A neuropeptide Y receptor type 4 isoform 1 that is encoded in the genome of human.


neuropeptide Y receptor type 2

A neuropeptide Y receptor that is a translation product of the human NPY2R gene or a 1:1 ortholog thereof.


neuropeptide Y receptor type 5

A neuropeptide Y receptor that is a translation product of the human NPY5R gene or a 1:1 ortholog thereof.


neuropeptide Y receptor type 4

A neuropeptide Y receptor that is a translation product of the human NPY4R gene or a 1:1 ortholog thereof. The preferred ligand is pancreatic polypeptide.


neuropeptide Y receptor type 1

A neuropeptide Y receptor that is a translation product of the human NPY1R gene or a 1:1 ortholog thereof. The preferred ligands are neuropeptides Y and YY.


name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 isoform 1 (human)

description: A SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 isoform 1 that is encoded in the genome of human.


TLE family member 5 isoform 1 (human)

A TLE family member 5 isoform 1 that is encoded in the genome of human.


TLE family member 5 isoform h2 (human)

A TLE family member 5 (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:Q08117-2.


name: TLE family member 5 cysteinylated 1 (human)

description: A TLE family member 5 (human) that has been cysteinylated on the residue at the position equivalent to Cys-89 of the amino acid sequence represented by UniProtKB:Q08117-1. Example: UniProtKB:Q08117-1, Cys-89, MOD:00765.


name: TLE family member 5 methylated 1 (human)

description: A TLE family member 5 (human) that has been methylated on the residue at the position equivalent to Cys-47 of the amino acid sequence represented by UniProtKB:Q08117-1. Example: UniProtKB:Q08117-1, Cys-47, MOD:00660.


A 1-(biphenyl-4-yloxy)-3,3-dimethyl-1-(1,2,4-triazol-1-yl)butan-2-ol that is the (1S,2S)-diastereomer of bitertanol.


BITERTANOL

A member of the class of triazoles that is 3,3-dimethyl-1-(1,2,4-triazol-1-yl)butane-1,2-diol substituted at position O-1 by a biphenyl-4-yl group.


A 1-(biphenyl-4-yloxy)-3,3-dimethyl-1-(1,2,4-triazol-1-yl)butan-2-ol that is the (1R,2R)-diastereomer of bitertanol.


A 1-(biphenyl-4-yloxy)-3,3-dimethyl-1-(1,2,4-triazol-1-yl)butan-2-ol that is the (1S,2R)-diastereomer of bitertanol.


name: BTB/POZ domain-containing protein KCTD17 deaminated 1 (human)

description: A BTB/POZ domain-containing protein KCTD17 (human) that has been deaminated on the residue at the position equivalent to Gln-137 of the amino acid sequence represented by UniProtKB:Q8N5Z5-1. Example: UniProtKB:Q8N5Z5-1, Gln-137, MOD:00685.


name: Advanced Undifferentiated Pleomorphic Sarcoma

description: An undifferentiated pleomorphic sarcoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: solute carrier family 22 member 1 isoform h2 (human)

description: A solute carrier family 22 member 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:O15245-2.


dedicator of cytokinesis protein 11

A protein that is a translation product of the human DOCK11 gene or a 1:1 ortholog thereof.


name: dedicator of cytokinesis protein 11 isoform 1 (human)

description: A dedicator of cytokinesis protein 11 isoform 1 that is encoded in the genome of human.


name: dedicator of cytokinesis protein 11 hydroxylated 1 (human)

description: A dedicator of cytokinesis protein 11 (human) that has been hydroxylated on the residue at the position equivalent to Trp-112 of the amino acid sequence represented by UniProtKB:Q5JSL3. UniProtKB:Q5JSL3, Trp-112, MOD:01622.


name: dedicator of cytokinesis protein 11 deaminated 1 (human)

description: A dedicator of cytokinesis protein 11 (human) that has been deaminated on the residue at the position equivalent to Asn-1024 of the amino acid sequence represented by UniProtKB:Q5JSL3. UniProtKB:Q5JSL3, Asn-1024, MOD:00684.


name: interleukin-1 receptor accessory protein

description: A protein that is a translation product of the human IL1RAP gene or a 1:1 ortholog thereof.


name: interleukin-1 receptor accessory protein isoform h3 (human)

description: An interleukin-1 receptor accessory protein (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:Q9NPH3-3.


name: interleukin-1 receptor accessory protein isoform h4 (human)

description: An interleukin-1 receptor accessory protein (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:Q9NPH3-5.


name: interleukin-1 receptor accessory protein isoform 1, signal peptide removed form (human)

description: An interleukin-1 receptor accessory protein isoform 1 (human) that has had the signal peptide removed. UniProtKB:Q9NPH3-1, 21-570.


name: interleukin-1 receptor accessory protein isoform 1 (human)

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


name: interleukin-1 receptor accessory protein isoform h2 (human)

description: An interleukin-1 receptor accessory protein (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:Q9NPH3-2.


name: transient receptor potential cation channel subfamily V member 3 isoform A (human)

description: A transient receptor potential cation channel TRPV3 isoform A that is encoded in the genome of human.


name: interferon-induced GTP-binding protein Mx1 deaminated 2 (human)

description: An interferon-induced GTP-binding protein Mx1 (human) that has been deaminated on the residue at the position equivalent to Gln-536 of the amino acid sequence represented by UniProtKB:P20591-1. Example: UniProtKB:P20591-1, Gln-536, MOD:00685.


name: Ras-related protein R-Ras isoform 1 (human)

description: A Ras-related protein R-Ras isoform 1 that is encoded in the genome of human.


name: surfeit locus protein 4 isoform h3 (human)

description: A surfeit locus 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:O15260-3.


cyclin-T2 methylated 1 (human)

A cyclin-T2 (human) that has been methylated on the residue at the position equivalent to Cys-122 of the amino acid sequence represented by UniProtKB:O60583-1. Example: UniProtKB:O60583-1, Cys-122, MOD:00660.


name: protein-arginine deiminase type-2 deaminated 1 (human)

description: A protein-arginine deiminase type-2 (human) that has been deaminated on the residue at the position equivalent to Asn-64 of the amino acid sequence represented by UniProtKB:Q9Y2J8-1. Example: UniProtKB:Q9Y2J8-1, Asn-64, MOD:00684.


lactadherin isoform h4 (human)

A lactadherin (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:Q08431-4.


CAAX prenyl protease 2

A protein that is a translation product of the human RCE1 gene or a 1:1 ortholog thereof.


name: CAAX prenyl protease 2, initiator methionine removed form (human)

description: A CAAX prenyl protease 2 (human) that has had the initiator methionine removed. UniProtKB:Q9Y256, 2-329.


name: CAAX prenyl protease 2, initiator methionine removed ubiquitinated form (human)

description: A CAAX prenyl protease 2 (human) that has had the initiator methionine removed and that includes at least one ubiquitinated lysine. UniProtKB:Q9Y256, 2-329, MOD:01148.


name: CAAX prenyl protease 2 isoform 1 (human)

description: A CAAX prenyl protease 2 isoform 1 that is encoded in the genome of human.


funisitis

description: An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid.


Necrotizing Funisitis

description: A ring of karyorrhectic debris that may exhibit dystrophic mineralization and/or identifiable fetal neutrophil infiltrate in Wharton's jelly that is oriented towards the amniotic surface. The cord has a denser ring externally and a fainter ring centrally.


name: E3 ubiquitin-protein ligase Hakai isoform 1 (human)

description: An E3 ubiquitin-protein ligase Hakai isoform 1 that is encoded in the genome of human.


name: blood group Rh(D) polypeptide isoform h6 (human)

description: A blood group Rh(D) polypeptide (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:Q02161-6.


name: spectrin beta chain, non-erythrocytic 2 isoform h1 (human)

description: A spectrin beta chain, non-erythrocytic 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:O15020-1.


name: collagen alpha-1(XV) chain, signal peptide removed galactosylhydroxylysine form (human)

description: A collagen alpha-1(XV) chain (human) that has had the signal peptide removed and that includes at least 1 galactosylhydroxylated lysine. UniProtKB:P39059, 28-1388, MOD:01914.


name: Non-Functioning Pancreatic Neuroendocrine Tumor G2

description: An intermediate grade well differentiated neoplasm with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome.


Pancreatic Neuroendocrine Tumor G2

description: A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the pancreas. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3-20%.


name: Advanced Pancreatic Neuroendocrine Tumor G2

description: Pancreatic neuroendocrine tumor G2 that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: Functioning Pancreatic Neuroendocrine Tumor G2

description: A well differentiated, intermediate grade neoplasm with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion.


name: Metastatic Pancreatic Neuroendocrine Tumor G2

description: Pancreatic neuroendocrine tumor G2 that has spread from its original site of growth to another anatomic site.


beta-D-glucosylsphingosine

D-Glucosylsphingosine in which the anomeric configuration of the glucosyl moiety is beta.


Cyflometofen

A nitrile that is acetonitrile in which the methyl hydrogens have been replaced by o-trifluoromethylbenzoyl, p-tert-butylphenyl, and (2-methoxyethoxy)carbonyl groups.


A frizzled-like G-protein coupled receptor that is a translation product of the human FZD10 gene or a 1:1 ortholog thereof.


name: frizzled-10, signal peptide removed form (human)

description: A frizzled-10 (human) that has had the signal peptide removed. UniProtKB:Q9ULW2, 21-581.


name: insulin-like growth factor 2 mRNA-binding protein 3 methylated 1 (human)

description: An insulin-like growth factor 2 mRNA-binding protein 3 (human) that has been methylated on the residue at the position equivalent to Cys-110 of the amino acid sequence represented by UniProtKB:O00425-1. Example: UniProtKB:O00425-1, Cys-110, MOD:00660.


name: acyl-coenzyme A thioesterase MBLAC2 isoform 1 (human)

description: An acyl-coenzyme A thioesterase MBLAC2 isoform 1 that is encoded in the genome of human.


name: condensin-2 complex subunit D3 methylated 4 (human)

description: A condensin-2 complex subunit D3 (human) that has been methylated on the residue at the position equivalent to Cys-471 of the amino acid sequence represented by UniProtKB:P42695. UniProtKB:P42695, Cys-471, MOD:00660.


condensin-2 complex subunit D3

A protein that is a translation product of the human NCAPD3 gene or a 1:1 ortholog thereof.


name: condensin-2 complex subunit D3 methylated 1 (human)

description: A condensin-2 complex subunit D3 (human) that has been methylated on the residue at the position equivalent to Cys-831 of the amino acid sequence represented by UniProtKB:P42695. UniProtKB:P42695, Cys-831, MOD:00660.


name: condensin-2 complex subunit D3 deaminated 2 (human)

description: A condensin-2 complex subunit D3 (human) that has been deaminated on the residue at the position equivalent to Asn-506 of the amino acid sequence represented by UniProtKB:P42695. UniProtKB:P42695, Asn-506, MOD:00684.


name: condensin-2 complex subunit D3 methylated 2 (human)

description: A condensin-2 complex subunit D3 (human) that has been methylated on the residue at the position equivalent to Cys-1059 of the amino acid sequence represented by UniProtKB:P42695. UniProtKB:P42695, Cys-1059, MOD:00660.


name: condensin-2 complex subunit D3 methylated 3 (human)

description: A condensin-2 complex subunit D3 (human) that has been methylated on the residue at the position equivalent to Cys-387 of the amino acid sequence represented by UniProtKB:P42695. UniProtKB:P42695, Cys-387, MOD:00660.


name: condensin-2 complex subunit D3 phosphorylated 3 (human)

description: A condensin-2 complex subunit D3 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-1100 of the amino acid sequence represented by UniProtKB:P42695. UniProtKB:P42695, Tyr-1100, MOD:00048.


name: condensin-2 complex subunit D3 deaminated 1 (human)

description: A condensin-2 complex subunit D3 (human) that has been deaminated on the residue at the position equivalent to Gln-1111 of the amino acid sequence represented by UniProtKB:P42695. UniProtKB:P42695, Gln-1111, MOD:00685.


name: condensin-2 complex subunit D3 phosphorylated 1 (human)

description: A condensin-2 complex subunit D3 (human) that has been phosphorylated on the residue at the position equivalent to Thr-1415 of the amino acid sequence represented by UniProtKB:P42695. UniProtKB:P42695, Thr-1415, MOD:00047.


name: condensin-2 complex subunit D3 phosphorylated 2 (human)

description: A condensin-2 complex subunit D3 (human) that has been phosphorylated on the residue at the position equivalent to Thr-1415, and phosphoserine at position 1419 of the amino acid sequence represented by UniProtKB:P42695. UniProtKB:P42695, Thr-1415, MOD:00047|Ser-1419, MOD:00046.


name: condensin-2 complex subunit D3 deaminated 3 (human)

description: A condensin-2 complex subunit D3 (human) that has been deaminated on the residue at the position equivalent to Gln-649 of the amino acid sequence represented by UniProtKB:P42695. UniProtKB:P42695, Gln-649, MOD:00685.


name: condensin-2 complex subunit D3 cysteinylated 1 (human)

description: A condensin-2 complex subunit D3 (human) that has been cysteinylated on the residue at the position equivalent to Cys-831 of the amino acid sequence represented by UniProtKB:P42695. UniProtKB:P42695, Cys-831, MOD:00765.


alpha-enolase acetylated 1 (human)

An alpha-enolase (human) that has been acetylated on the residue at the position equivalent to Lys-5 of the amino acid sequence represented by UniProtKB:P06733-1. Example: UniProtKB:P06733-1, Lys-5, MOD:00723.


autoimmune disorder of endocrine system

description: A hypersensitivity reaction type II disease that involves the endocrine system.


autoimmune primary ovarian failure

description: An autoimmune form of primary ovarian failure.


postpartum thyroiditis

description: A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum


IgG4-related thyroid disease

description: Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occurring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease.


neonatal thyrotoxicosis

description: A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins.


autoimmune polyendocrinopathy type 3

description: A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.


lactobacillic acid

An 11,12-methyleneoctadecanoic acid having (11R,12S)-configuration.


11,12-methyleneoctadecanoic acid

A C18, saturated fatty acid composed of octadecanoic acid having an 11,12-methylene substituent forming a cyclopropane.


choanal atresia, ass

description: Choanal atresia that occurs in ass.


name: E3 ubiquitin-protein ligase MYCBP2 methylated 1 (human)

description: An E3 ubiquitin-protein ligase MYCBP2 (human) that has been methylated on the residue at the position equivalent to Cys-2044 of the amino acid sequence represented by UniProtKB:O75592-1. Example: UniProtKB:O75592-1, Cys-2044, MOD:00660.


isobutrin

A member of the class of chalcones that is trans-chalcone substituted by beta-D-glucopyranosyloxy groups at positions 3 and 4' and hydroxy groups at positions 4 and 2' respectively.


name: serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform isoform 1 (human)

description: A serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform isoform 1 that is encoded in the genome of human.


AV Block First Degree by ECG Finding

description: An electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds. Note that other thresholds may be applicable. (CDISC)


A member of the class of piperidones that is piperidin-4-one substituted by a 3-oxoprop-1-en-3-yl group at position 1 and 4-nitrobenzylidene groups at positions 3 and 5. It is an inhibitor of ubiquitin-specific-processing protease 14 (USP14) and ubiquitin carboxyl-terminal hydrolase isozyme L5 (UCHL5).


kininogen-1 N-glycosylated 12 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P01042-1, Asn-205, MOD:00160~GNO:G06247RL.


kininogen-1 O-glycosylated 22 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-137 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P01042-1, Thr-137, MOD:00005~GNO:G58001LT.


kininogen-1 O-glycosylated 48 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-546 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P01042-1, Thr-546, MOD:00005~GNO:G53434XO.


kininogen-1 O-glycosylated 6 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Ser-150 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P01042-1, Ser-150, MOD:00002~GNO:G58001LT.


kininogen-1 O-glycosylated 30 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-400 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P01042-1, Thr-400, MOD:00005~GNO:G53434XO.


kininogen-1 N-glycosylated 16 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G40926MX. Example: UniProtKB:P01042-1, Asn-205, MOD:00160~GNO:G40926MX.


kininogen-1 N-glycosylated 37 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-48 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P01042-1, Asn-48, MOD:00160~GNO:G59626AS.


kininogen-1 O-glycosylated 2 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Ser-150 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G17015OC. Example: UniProtKB:P01042-1, Ser-150, MOD:00002~GNO:G17015OC.


kininogen-1 O-glycosylated 10 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Ser-577 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G17015OC. Example: UniProtKB:P01042-1, Ser-577, MOD:00002~GNO:G17015OC.


kininogen-1 O-glycosylated 29 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-273 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01042-1, Thr-273, MOD:00005~GNO:G43417UB.


kininogen-1 N-glycosylated 4 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-169 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P01042-1, Asn-169, MOD:00160~GNO:G27947YN.


kininogen-1 O-glycosylated 33 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-401 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01042-1, Thr-401, MOD:00005~GNO:G43417UB.


kininogen-1 O-glycosylated 44 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-542 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01042-1, Thr-542, MOD:00005~GNO:G43417UB.


kininogen-1 O-glycosylated 5 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Ser-150 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P01042-1, Ser-150, MOD:00002~GNO:G53434XO.


kininogen-1 O-glycosylated 43 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-533 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P01042-1, Thr-533, MOD:00005~GNO:G53434XO.


kininogen-1 isoform h3 (human)

A kininogen-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:P01042-3.


kininogen-1 N-glycosylated 30 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-294 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01042-1, Asn-294, MOD:00160~GNO:G43417UB.


kininogen-1 O-glycosylated 36 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-407 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01042-1, Thr-407, MOD:00005~GNO:G43417UB.


kininogen-1 N-glycosylated 38 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-48 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P01042-1, Asn-48, MOD:00160~GNO:G88374WZ.


kininogen-1 N-glycosylated 29 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-294 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P01042-1, Asn-294, MOD:00160~GNO:G42358LZ.


kininogen-1 O-glycosylated 8 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Ser-531 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G73004SD. Example: UniProtKB:P01042-1, Ser-531, MOD:00002~GNO:G73004SD.


kininogen-1 N-glycosylated 27 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-294 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan structure is represented by GlyTouCan:G36131WL. Example: UniProtKB:P01042-1, Asn-294, MOD:00160~GNO:G36131WL.


kininogen-1 N-glycosylated 1 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-169 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01042-1, Asn-169, MOD:00160~GNO:G00912UN.


kininogen-1 O-glycosylated 31 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-400 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G57317CE. Example: UniProtKB:P01042-1, Thr-400, MOD:00005~GNO:G57317CE.


kininogen-1 N-glycosylated 11 (human)

A kininogen-1 (human) that has been N-glycosylated at the residue equivalent to Asn-205 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01042-1, Asn-205, MOD:00160~GNO:G00912UN.


kininogen-1 O-glycosylated 27 (human)

A kininogen-1 (human) that has been O-glycosylated at the residue equivalent to Thr-151 of the amino acid sequence represented by UniProtKB:P01042-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01042-1, Thr-151, MOD:00005~GNO:G43417UB.