name: immunoglobulin heavy constant gamma 1 deaminated 5 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been deaminated on the residue at the position equivalent to Asn-84 of the amino acid sequence represented by UniProtKB:P01857-2. Example: UniProtKB:P01857-2, Asn-84, MOD:00684.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 48 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G85740DB. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G85740DB.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 9 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan structure is represented by GlyTouCan:G11254FL. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G11254FL.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 31 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G59937CP. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G59937CP.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 20 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G40834TG. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G40834TG.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 11 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan structure is represented by GlyTouCan:G22674CI. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G22674CI.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 22 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G45504EY. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G45504EY.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 28 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G57317CE. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G57317CE.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 46 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G83646BJ. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G83646BJ.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 24 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G50073PQ. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G50073PQ.


name: immunoglobulin heavy constant gamma 1 deaminated 9 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been deaminated on the residue at the position equivalent to Asn-267 of the amino acid sequence represented by UniProtKB:P01857-2. Example: UniProtKB:P01857-2, Asn-267, MOD:00684.


name: immunoglobulin heavy constant gamma 1 deaminated 6 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been deaminated on the residue at the position equivalent to Gln-269 of the amino acid sequence represented by UniProtKB:P01857-2. Example: UniProtKB:P01857-2, Gln-269, MOD:00685.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 43 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan structure is represented by GlyTouCan:G80858MF. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G80858MF.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 42 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G80475RE. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G80475RE.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 49 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G88374WZ.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 2 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G02815KT. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G02815KT.


name: immunoglobulin heavy constant gamma 1 isoform h2 (human)

description: An immunoglobulin heavy constant gamma 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:P01857-2.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 27 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G72787SB. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G72787SB.


name: immunoglobulin heavy constant gamma 1 deaminated 4 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been deaminated on the residue at the position equivalent to Asn-244 of the amino acid sequence represented by UniProtKB:P01857-2. Example: UniProtKB:P01857-2, Asn-244, MOD:00684.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 19 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan structure is represented by GlyTouCan:G39213VZ. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G39213VZ.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 15 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G28603RA. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G28603RA.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 4 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G57776ZU. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G57776ZU.


name: immunoglobulin heavy constant gamma 1 deaminated 8 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been deaminated on the residue at the position equivalent to Asn-272 of the amino acid sequence represented by UniProtKB:P01857-2. Example: UniProtKB:P01857-2, Asn-272, MOD:00684.


name: immunoglobulin heavy constant gamma 1 isoform h1 (human)

description: An immunoglobulin heavy constant gamma 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:P01857-1.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 1 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G00912UN.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 45 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G83633GK. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G83633GK.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 26 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G54600FO. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G54600FO.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 41 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G78059CC.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 12 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G25079LO. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G25079LO.


name: eIF-2-alpha kinase GCN2 isoform h1 (human)

description: An eIF-2-alpha kinase GCN2 (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:Q9P2K8-1.


Grade 5 Hematosalpinx, CTCAE

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

description: Death


name: bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 1 (human)

description: A bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 1 that is encoded in the genome of human.


name: serine/threonine-protein kinase Nek2 isoform h3 (human)

description: A serine/threonine-protein kinase Nek2 (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:P51955-3.


Orocutaneous fistula

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

description: An abnormal communication between the skin and the oral cavity.


name: Myeloblasts 20 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


name: Blasts 10 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 10 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Blasts 20 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Blasts 60 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 60 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Blasts More than 60 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that more than 60 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Lymphoblasts More than 10 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of lymphoid origin.


name: Blasts More than 20 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that more than 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Blasts 20-30 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that between 20 and 30 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Lymphoblasts 20 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of lymphoid origin.


name: Blasts More than 10 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Myeloblasts 10 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


name: sodium- and chloride-dependent GABA transporter 1 isoform 1 (rat)

description: A sodium- and chloride-dependent GABA transporter 1 isoform 1 that is encoded in the genome of rat.


Segmental peripheral demyelination

description: A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.


name: Patchy demyelination of subcortical white matter

description: Patchy loss of myelin from nerve fibers in the central nervous system.


name: Abnormal central microtubular pair morphology of respiratory motile cilia

description: A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.


name: Absent central microtubular pair morphology of respiratory motile cilia

description: Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.


name: Symmetrical progressive peripheral demyelination

description: A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


name: Diffuse demyelination of the cerebral white matter

description: A diffuse loss of myelin from nerve fibers in the central nervous system.


name: Abnormal respiratory motile cilium morphology

description: Abnormal arrangement of the structures of the motile cilium.


description: A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.


Symmetric peripheral demyelination

description: A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


Asymmetric peripheral demyelination

description: Loss of myelin from peripheral nerves in a pattern that differs between right and left.


name: Spinal cord posterior columns myelin loss


Cerebral hypomyelination

description: Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.


Absent inner dynein arms

description: Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.


Absent inner and outer dynein arms

description: Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.


CNS demyelination

description: A loss of myelin from nerve fibers in the central nervous system.


Diffuse peripheral demyelination

description: A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


name: Dynein arm defect of respiratory motile cilia

description: An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.


name: Severe demyelination of the white matter

description: A severe loss of myelin from nerve fibers in the central nervous system.


Absent outer dynein arms

description: Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.


Peripheral demyelination

description: A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.


name: Absent respiratory ciliary axoneme radial spokes

description: Absence of the radial spokes of the axoneme of the respiratory cilium.


Sensory axonal neuropathy

description: An axonal neuropathy of peripheral sensory nerves.


name: vitamin K-dependent protein C N-glycosylated 25 (human)

description: A vitamin K-dependent protein C (human) that has been N-glycosylated at the residue equivalent to Asn-355 of the amino acid sequence represented by UniProtKB:P04070-1, in which the glycan structure is represented by GlyTouCan:G42440OJ. Example: UniProtKB:P04070-1, Asn-355, MOD:00160~GNO:G42440OJ.


Stage II Urethral Cancer AJCC v7

description: Stage II includes: T2, N0, M0.  T2: Tumor invades any of the following: corpus spongiosum, prostate, periurethral muscle.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Urethral Cancer by AJCC v7 Stage

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


Stage I Urethral Cancer AJCC v7

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


Stage 0 Urethral Cancer AJCC v7

description: Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0); (Tis pu, N0, M0); (Tis pd, N0, M0).  Ta: Noninvasive papillary, polypoid, or verrucous carcinoma.  Tis: Carcinoma in situ.  Tis pu: Carcinoma in situ, involvement of the prostatic urethra.  Tis pd: Carcinoma in situ, involvement of the prostatic ducts.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


carcinoma in situ of urethra

description: A in situ carcinoma that involves the urethra.


Stage IV Urethral Cancer AJCC v7

description: Stage IV includes: (T4, N0, M0); (T4, N1, M0); (Any T, N2, M0), (Any T, Any N, M1).  T4: Tumor invades other adjacent organs.  N0: No regional lymph node metastasis.  N1: Metastasis in a single lymph node 2 cm or less in greatest dimension.  N2: Metastasis in a single lymph node more than 2 cm in greatest dimension, or in multiple lymph nodes.  M0: No distant metastasis.  M1: Distant metastasis.  (AJCC 7th ed.)


Stage 0a Urethral Cancer AJCC v7

description: Stage 0a includes: Ta, N0, M0.  Ta: Noninvasive papillary, polypoid, or verrucous carcinoma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage III Urethral Cancer AJCC v7

description: Stage III includes: (T1, N1, M0); (T2, N1, M0); (T3, N0, M0), (T3, N1, M0).  T1: Tumor invades subepithelial connective tissue.  T2: Tumor invades any of the following: corpus spongiosum, prostate, periurethral muscle.  T3: Tumor invades any of the following: corpus cavernosum, beyond prostatic capsule, anterior vagina, bladder neck.  N1: Metastasis in a single lymph node 2 cm or less in greatest dimension.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Gallbladder Undifferentiated Carcinoma, Spindle and Giant Cell Type

description: An undifferentiated carcinoma that arises from the gallbladder.  It is characterized by the presence of spindle and giant malignant cells, including osteoclast-like giant cells.


name: Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


name: Grade 5 Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


name: Grade 2 Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


name: Grade 4 Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


name: Grade 3 Vulva Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Grade 1 Duodenal Obstruction, CTCAE

description: Asymptomatic; clinical or diagnostic observations only; intervention not indicated


description: A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.


Optic ataxia

description: Difficulty reaching visually guided goals in peripheral vision, with the deficit, leaves voluntary eye movements largely unaffected.


name: Chronic active Epstein-Barr virus infection

description: Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed.


FGFR2B Overexpression

description: An indication that overexpression of FGFR2B has been detected in a sample.


Aplastic nasopharyngeal adenoids

description: Absence of the nasopharyngeal adenoids as a developmental defect.


name: chondrodysplasia punctata, brachytelephalangic, autosomal


name: autosomal dominant chondrodysplasia punctata

description: Autosomal dominant form of chondrodysplasia punctata.


name: chondrodysplasia punctata, tibial-metacarpal type


Broad phalanges of the hand

description: Increased width of the phalanges of the hand.


Broad distal phalanx of the thumb

description: Increased width of the distal phalanx of thumb.


Broad 1st metacarpal

description: Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Spatulate thumbs

description: Spoon-shaped, broad thumbs.


Broad hallux phalanx

description: An increase in width in one or more phalanges of the big toe.


Broad middle phalanx of the 4th finger

description: Increased width of the middle phalanx of the 4th finger.


Broad metatarsal

description: Increased side-to-side width of a metatarsal bone.


Broad phalanges of the 3rd finger

description: Increased width of the phalanges of the 3rd finger.


name: Broad proximal phalanx of the 3rd finger

description: Increased width of the proximal phalanx of the 3rd finger.


Broad middle phalanx of the 2nd finger

description: Increased width of the middle phalanx of the second finger.


Broad radial metaphysis

description: Increase in width (breadth) of the radial metaphysis.


Broad clavicles

description: Increased width (cross-sectional diameter) of the clavicles.


Broad distal phalanx of finger

description: Abnormally wide (broad) distal phalanx of finger.


Broad first metatarsal

description: Increased side-to-side width of the first metatarsal bone.


Broad distal phalanx of the hallux

description: An increase in width of the distal phalanx of the big toe.


Broad phalanx

description: Increased side-to-side width of one or more phalanges of the fingers or toes.


Bulbous tips of toes

description: An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.


Broad phalanges of the 4th finger

description: Increased width of the phalanges of the 4th finger.


Broad phalanx of the toes

description: Increased width of phalanx of one or more toes.


Broad proximal phalanges of the hand

description: Increased width of the proximal phalanges of the finger.


Broad ulna

description: Increased width of the ulna.


Broad proximal phalanx of the hallux

description: Increased width of proximal phalanx of big toe.


Broad middle phalanx of finger

description: Increased width of the middle phalanx of finger.


Broad proximal phalanx of the thumb

description: Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Broad distal phalanx of the 5th finger

description: Increased width of the distal phalanx of the 5th finger.


Broad metacarpals

description: Abnormally broad metacarpal bones.


name: Broad proximal phalanx of the 4th finger

description: Increased width of the proximal phalanx of the 4th finger.


Broad distal phalanx of the 4th finger

description: Increased width of the distal phalanx of the 4th finger.


name: Broad proximal phalanx of the 5th finger

description: Increased width of the proximal phalanx of the 5th finger.


name: Expanded phalanges with widened medullary cavities


Broad proximal phalanx of toe

description: An increase in width of one ore more proximal toe phalanges.


Increased fibular diameter

description: Increased width of the cross sectional diameter of the fibula.


Broad phalanges of the 5th finger

description: Increased width of the phalanges of the 5th finger.


Broad middle phalanx of the 5th finger

description: Increased width of the middle phalanx of the 5th finger.


Broad radius

description: Increased width of the radius.


Broad middle phalanx of the 3rd finger

description: Increased width of the middle phalanx of the 3rd finger.


name: Broad proximal phalanx of the 2nd finger

description: Increased width of the proximal phalanx of the 2nd finger.


Broad distal phalanx of the toes

description: Increased width of the distal phalanx of toe of one or more toes.


Broad distal phalanx of the 2nd finger

description: Increased width of the distal phalanx of the 2nd finger.


Broad distal phalanx of the 3rd finger

description: Increased width of the distal phalanx of the 3rd finger.


Broad distal phalanges of all fingers

description: Abnormally wide (broad) distal phalanx of finger of all fingers.


Broad thumb

description: Increased thumb width without increased dorso-ventral dimension.


Abnormal sixth cranial nerve morphology

description: Any structural abnormality of the abducens nerve.


Sixth cranial nerve hypoplasia

description: Underdevelopment of the six cranial nerve (abducens nerve).


hemoglobin D disease

description: Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).


name: solute carrier family 2, facilitated glucose transporter member 2 isoform h2 (human)

description: A solute carrier family 2, facilitated glucose transporter member 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P11168-2.


functioning pituitary gland neoplasm

description: A hormone producing pituitary gland tumor, associated with a hormonal syndrome.


TSH producing pituitary tumor

description: An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin.


TSH-secreting pituitary adenoma

description: A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.


functioning pituitary gland adenoma

description: A hormone producing pituitary gland adenoma, associated with a hormonal syndrome.


Nelson syndrome

description: A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation.


name: malignant thyroid stimulating hormone producing neoplasm of pituitary gland

description: A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin.


functioning gonadotropic adenoma

description: Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children).


name: Stage II Acral Lentiginous Melanoma AJCC v6 and v7

description: Stage II includes: IIA: (T2b, N0, M0); (T3a, N0, M0); IIB: (T3b, N0, M0); (T4a, N0, M0); IIC: (T4b, N0, M0).  T2b: Cutaneous melanoma with a tumor measuring 1.01-2.0 mm in thickness, with ulceration.  T3a: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, without ulceration.  T3b: Cutaneous melanoma with a tumor measuring 2.01-4.0 mm in thickness, with ulceration.  T4a: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, without ulceration.  T4b: Cutaneous melanoma with a tumor measuring more than 4.0 mm in thickness, with ulceration.  N0: No regional lymph node metastases.  M0: No detectable evidence of distant metastases. (from AJCC 6th and 7th Ed.)


Grade 2 Neck Pain, CTCAE

description: Moderate pain; limiting instrumental ADL


name: cyclin-dependent kinase 8 isoform 1 (human)

description: A cyclin-dependent kinase 8 isoform 1 that is encoded in the genome of human.


name: serine/threonine-protein kinase tousled-like 1 isoform 1 (human)

description: A serine/threonine-protein kinase tousled-like 1 isoform 1 that is encoded in the genome of human.


name: progressive relapsing multiple sclerosis

description: A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.


name: Cutaneous stenosis of the external auditory canal


name: Metastatic Malignant Neoplasm to the Thyroid

description: A malignant neoplasm either directly extending to the thyroid gland from adjacent structures (e.g. pharynx, larynx, esophagus, cervical lymph nodes), or spreading to the thyroid gland from distant anatomic sites, most frequently kidney, lung, uterus, breast, and skin.  The majority of cases are carcinomas, lymphomas, and melanomas.


Metastatic malignant neoplasm to neck

description: A malignant neoplasm that has spread to the neck region from a malignancy in a local or distant anatomic site.


name: Metastatic malignant neoplasm to parathyroid gland

description: A malignant neoplasm either directly extending to the parathyroid glands from adjacent anatomic structures, or spreading to the parathyroid glands from distant anatomic sites, most frequently breast, lung, kidney, soft tissues, and skin.


name: Metastatic malignant neoplasm to nasopharynx

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


name: Metastatic malignant neoplasm to oropharynx

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


name: Metastatic malignant neoplasm to hypopharynx

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


Metastatic malignant neoplasm to larynx

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


name: Neck Squamous Cell Carcinoma of Unknown Primary

description: A squamous cell carcinoma that has metastasized to the neck lymph nodes from an unknown primary anatomic site.


name: Recurrent Neck Squamous Cell Carcinoma of Unknown Primary

description: The reemergence of metastatic squamous cell carcinoma of unknown primary in the neck region after a period of remission.


name: Metastatic malignant neoplasm to pharynx

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


name: Human Papillomavirus-Related Head and Neck Squamous Cell Carcinoma of Unknown Primary

description: A squamous cell carcinoma that is associated with human papillomavirus infection and has metastasized to the neck lymph nodes from an unknown primary anatomic site.


name: Human Papillomavirus-Negative Head and Neck Squamous Cell Carcinoma of Unknown Primary

description: A squamous cell carcinoma that is not associated with human papillomavirus infection and has metastasized to the neck lymph nodes from an unknown primary anatomic site.


Hypoplastic iris stroma

description: Underdevelopment of the stroma of iris.


icosanoid

Any member of the group of signalling molecules arising from oxidation of the three C20 essential fatty acids (EFAs) icosapentaenoic acid (EPA), arachidonic acid (AA) and dihomo-gamma-linolenic acid (DGLA).


prostaglandin

Naturally occurring compounds derived from the parent C20 acid, prostanoic acid.


prostanoid

The family of natural prostaglandins and prostaglandin-like compounds including prostacyclins and thromboxanes.


Brown-Vialetto-van Laere syndrome 1

description: Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.


Pelvic girdle amyotrophy

description: Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.


name: Amyotrophy of the musculature of the pelvis

description: Muscular atrophy affecting the muscles of the pelvis.


intravascular fasciitis

description: A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity.


name: Stage IV Major Salivary Gland Carcinoma with Metastasis

description: Stage IV carcinoma of the major salivary glands with regional lymph nodes and/or distant metastases.


Cervical Micropapillary Adenocarcinoma

description: A rare, invasive adenocarcinoma that arises from the cervix and is characterized by a micropapillary architecture.


calcitriol 25-O-(beta-D-glucuronide)

A steroid glucosiduronic acid that is calcitriol in which the hydroxy hydrogen at position 25 has been replaced by a beta-D-glucuronyl residue.


Late Stillbirth

description: Delivery of a dead fetus greater than 28 weeks gestational age and/or greater than 1,000 grams birth weight.


name: Pathologic Stage IVB Gastroesophageal Junction Adenocarcinoma AJCC v8

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


name: Gastroesophageal Junction Adenocarcinoma by AJCC v8 Pathologic Stage

description: A term that refers to the pathologic staging of gastroesophageal junction adenocarcinoma according to the American Joint Committee on Cancer, 8th edition.


name: Pathologic Stage IIIB Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IIIB includes: (T2, N2, M0, Any G); (T3, N1-2, M0, Any G); (T4a, N0-1, M0, Any G). T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IA Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IA includes: (T1a, N0, M0, G1); (T1a, N0, M0, GX). T1a: Tumor invades the lamina propria or muscularis mucosae. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. (AJCC 8th ed.)


name: Pathologic Stage IIIA Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IIIA includes: (T1, N2, M0, Any G); (T2, N1, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage 0 Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage 0 includes: Tis, N0, M0, GN/A. Tis: High-grade dysplasia, defined as malignant cells confined to the epithelium by the basement membrane. N0: No regional lymph node metastasis. M0: No distant metastasis. GN/A: Grade non-applicable. (AJCC 8th ed.)


name: Pathologic Stage IIA Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IIA includes: (T2, N0, M0, G3); (T2, N0, M0, GX). T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. GX: Grade cannot be assessed. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Pathologic Stage I Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage I includes: IA: (T1a, N0, M0, G1); (T1a, N0, M0, GX); IB: (T1a, N0, M0, G2); (T1b, N0, M0, G1-2); (T1b, N0, M0, GX); IC: (T1, N0, M0, G3); (T2, N0, M0, G1-2). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Pathologic Stage II Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage II includes: IIA: (T2, N0, M0, G3); (T2, N0, M0, GX); IIB: (T1, N1, M0, Any G); (T3, N0, M0, Any G). T2: Tumor invades the muscularis propria. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. GX: Grade cannot be assessed. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Pathologic Stage III Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage III includes: IIIA: (T1, N2, M0, Any G); (T2, N1, M0, Any G); IIIB: (T2, N2, M0, Any G); (T3, N1-2, M0, Any G); (T4a, N0-1, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. T3: Tumor invades adventitia. T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IC Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IC includes: (T1, N0, M0, G3); (T2, N0, M0, G1-2). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T2: Tumor invades the muscularis propria. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. G2: Moderately differentiated. G3: Poorly differentiated, undifferentiated. (AJCC 8th ed.)


name: Pathologic Stage IVA Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IVA includes: (T4a, N2, M0, Any G); (T4b, N0-2, M0, Any G); (Any T, N3, M0, Any G). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IIB Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IIB includes: (T1, N1, M0, Any G); (T3, N0, M0, Any G). T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. T3: Tumor invades adventitia. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IV Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IV includes: IVA: (T4a, N2, M0, Any G); (T4b, N0-2, M0, Any G); (Any T, N3, M0, Any G); IVB: (Any T, Any N, M1, Any G). T4a: Tumor invades the pleura, pericardium, azygos vein, diaphragm, or peritoneum. T4b: Tumor invades other adjacent structures, such as the aorta, vertebral body, or airway. N0: No regional lymph node metastasis. N1: Tumor with metastasis in one or two regional lymph nodes. N2: Tumor with metastasis in three to six regional lymph nodes. N3: Tumor with metastasis in seven or more regional lymph nodes. M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


name: Pathologic Stage IB Gastroesophageal Junction Adenocarcinoma AJCC v8

description: Stage IB includes: (T1a, N0, M0, G2); (T1b, N0, M0, G1-2); (T1b, N0, M0, GX). T1a: Tumor invades the lamina propria or muscularis mucosae. T1b: Tumor invades the submucosa. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well-differentiated. GX: Grade cannot be assessed. G2: Moderately differentiated. (AJCC 8th ed.)


name: Refractory High Grade Burkitt-Like Lymphoma

description: High grade B-cell lymphoma Burkitt-like lymphoma resistant to treatment.


name: Recurrent High Grade Burkitt-Like Lymphoma

description: The reemergence of high grade B-cell lymphoma Burkitt-like lymphoma after a period of remission.


name: Stage II High Grade Adult Non-Hodgkin's Lymphoma


name: Stage II High Grade Burkitt-Like Lymphoma

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


name: High Grade B-Cell Non-Hodgkin's Lymphoma


name: Stage I High Grade Burkitt-Like Lymphoma

description: Stage I NHL means involvement of a single lymph node region (I) or localized involvement of a single extralymphatic organ or site (IE). (from PDQ)


name: Recurrent High Grade Adult Non-Hodgkin's Lymphoma


name: Stage IV High Grade Adult Non-Hodgkin's Lymphoma


name: Stage IV High Grade Burkitt-Like Lymphoma

description: Stage IV NHL means disseminated (multifocal) involvement of one or more extralymphatic sites with or without associated lymph node involvement or isolated extralymphatic organ involvement with distant (nonregional) nodal involvement. (from PDQ)


name: Stage III High Grade Adult Non-Hodgkin's Lymphoma


name: Stage I High Grade Adult Non-Hodgkin's Lymphoma


name: Stage III High Grade Burkitt-Like Lymphoma

description: Stage III NHL means involvement of lymph node regions on both sides of the diaphragm (III) that may also be accompanied by localized involvement of an extralymphatic organ or site (IIIE), by involvement of the spleen (IIIS), or both (IIIS+E). (from PDQ)


High Grade Burkitt-Like Lymphoma

description: A high grade B-cell lymphoma showing greater pleomorphism in nuclear size and shape than the classical Burkitt lymphoma.


name: Patchy sclerosis of the proximal phalanx of the 3rd toe


name: Stage IVB Esophageal Squamous Cell Carcinoma


name: sodium/nucleoside cotransporter 1 isoform h2 (human)

description: A sodium/nucleoside cotransporter 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:O00337-2.


lymphangioleiomyomatosis

description: A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.


chronic sphenoidal sinusitis

description: Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.


name: 1alpha,25-dihydroxy-2beta-(2-hydroxyethoxy)vitamin D3 / 1alpha,25-dihydroxy-2beta-(2-hydroxyethoxy)cholecalciferol


A phytocannabinoid that is Delta(9)-tetrahydrocannabinol in which the C-11 methyl has been fully oxidised to a carboxy group. Further enzymatic oxidation product of 11-hydroxy-Delta(9)-tetrahydrocannabinol.


name: short transient receptor potential channel 6 isoform h1 (human)

description: A short transient receptor potential channel 6 (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:Q9Y210-1.


name: short transient receptor potential channel 6

description: A transient receptor potential cation channel TRPC3/6/7 that is a translation product of the human TRPC6 gene or a 1:1 ortholog thereof.


name: short transient receptor potential channel 6 isoform h3 (human)

description: A short transient receptor potential channel 6 (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:Q9Y210-3.


name: short transient receptor potential channel 6 phosphorylated 1 (human)

description: A short transient receptor potential channel 6 (human) that has been phosphorylated on the residue at the position equivalent to Thr-402 of the amino acid sequence represented by UniProtKB:Q9Y210-1. Example: UniProtKB:Q9Y210-1, Thr-402, MOD:00047.


name: short transient receptor potential channel 6 N-glycosylated 2 (human)

description: A short transient receptor potential channel 6 (human) that has been N-glycosylated at the residue equivalent to Asn-473 of the amino acid sequence represented by UniProtKB:Q9Y210-1, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:Q9Y210-1, Asn-473, MOD:00160~GNO:G12580WI.


name: short transient receptor potential channel 6 N-glycosylated 1 (human)

description: A short transient receptor potential channel 6 (human) that has been N-glycosylated at the residue equivalent to Asn-473 of the amino acid sequence represented by UniProtKB:Q9Y210-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:Q9Y210-1, Asn-473, MOD:00160~GNO:G08293MJ.


name: short transient receptor potential channel 6 isoform h2 (human)

description: A short transient receptor potential channel 6 (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:Q9Y210-2.


Benign Nasolacrimal Duct Neoplasm

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


name: Hodgkin lymphoma, nodular sclerosis, cellular phase

description: A nodular sclerosis Hodgkin lymphoma characterized by the presence of lacunar cells, nodular growth, and the absence of fibrosis.


name: troponin C, slow skeletal and cardiac muscles isoform 1 (human)

description: A troponin C, slow skeletal and cardiac muscles isoform 1 that is encoded in the genome of human.


name: Unresectable Cervical Adenosquamous Carcinoma

description: Cervical adenosquamous carcinoma that is not amenable to surgical resection.


Scapular winging

description: Abnormal protrusion of the scapula away from the surface of the back.


name: splicing factor 3B subunit 3 isoform h3 (human)

description: A splicing factor 3B subunit 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q15393-3.


Vesicovaginal fistula

description: The presence of a fistula connecting the urinary bladder to the vagina.


Rectoperineal fistula

description: The presence of a fistula between the perineum and the rectum.


Urethrovaginal fistula

description: The presence of a fistula between the vagina and the urethra.


H-type rectovestibular fistula

description: Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.


Perineal fistula

description: The presence of a fistula between the bowel and the perineum.


Anoperineal fistula

description: The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.


Urachus fistula

description: Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.


Rectourethral fistula

description: An abnormal connection (fistula) between the rectum and the urethra.


Rectovaginal fistula

description: The presence of a fistula between the vagina and the rectum.


Rectoureteral fistula

description: An abnormal connection (fistula) between the rectum and the ureter.


Rectovestibular fistula

description: A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.


Rectal fistula

description: The presence of a fistula affecting the rectum.


Bladder fistula

description: The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.


Colovesical fistula

description: An aberrant, pathological communication between the colon and the bladder.


Urethral fistula

description: The presence of an abnormal connection between the urethra and another organ or the skin.


Rectovesical fistula

description: An aberrant, pathological communication between the rectum and the bladder.


Grade 5 Pulmonary Hypertension, CTCAE

description: Death


Recurrent Unspecified Lung Carcinoma

description: Lung carcinoma that has re-emerged after a period of remission.


Large cell lung cancer recurrent

description: The reemergence of large cell lung carcinoma after a period of remission.


name: Recurrent Lung Non-Small Cell Squamous Carcinoma

description: The reemergence of lung squamous non-small cell carcinoma after a period of remission.


Recurrent Bronchogenic Carcinoma

description: The reemergence of bronchogenic carcinoma after a period of remission.


name: Locally Recurrent Lung Non-Small Cell Carcinoma

description: The reemergence of lung non-small cell carcinoma after a period of remission, at or adjacent to the site of the original tumor.


name: Recurrent Lung Non-Squamous Non-Small Cell Carcinoma

description: The reemergence of non-squamous non-small cell lung carcinoma after a period of remission.


name: Adenosquamous cell lung cancer recurrent

description: The reemergence of adenosquamous lung carcinoma after a period of remission.


Lung adenocarcinoma recurrent

description: The re-emergence of lung adenocarcinoma after a period of remission.


Small cell lung cancer recurrent

description: The reemergence of small cell carcinoma of the lung after a period of remission.


Lung squamous cell carcinoma recurrent

description: The re-emergence of squamous cell lung carcinoma after a period of remission.


name: Recurrent Extensive Stage Lung Small Cell Carcinoma

description: Extensive stage small cell lung carcinoma that has reemerged after a period of remission.


pituitary gland basophilic carcinoma

description: A malignant epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes.


Stage IA Vaginal Cancer AJCC v8

description: Stage IA includes: T1a, N0, M0. T1a: Tumor confined to the vagina, measuring 2.0 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage I Vaginal Cancer AJCC v8

description: Stage I includes: IA: T1a, N0, M0; IB: T1b, N0, M0. T1a: Tumor confined to the vagina, measuring 2.0 cm or less. T1b: Tumor confined to the vagina, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Stage IB Vaginal Cancer AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Tumor confined to the vagina, measuring more than 2.0 cm. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


Neutrophil Count 1000

description: Indicates a neutrophil count of at least 1000 per cubic millimeter.


name: Non-Neoplastic Chronic Lower Respiratory System Disorder

description: A non-neoplastic longstanding disorder of the lower respiratory system.


name: vulvar proximal-type epithelioid sarcoma

description: An epithelioid sarcoma of the proximal type involving the vulva.


Abnormality of the thenar eminence

description: An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.


Small thenar eminence

description: Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.


name: neuronopathy, distal hereditary motor, autosomal recessive 10


name: Decreased renal tubular phosphate excretion


name: DNA polymerase beta unacetylated 1 (human)

description: A DNA polymerase beta (human) that lacks acetylation on the residue equivalent to Lys-72 of the amino acid sequence represented by UniProtKB:P06746. UniProtKB:P06746, Lys-72, PR:000026291.


name: Recurrent Castration-Sensitive Prostate Carcinoma

description: The reemergence of hormone-sensitive prostate carcinoma in an anatomic site other than the prostate gland, after a period of remission.


name: delta-type opioid receptor isoform 1 (rat)

description: A delta-type opioid receptor isoform 1 that is encoded in the genome of rat.


Refractory Testicular Lymphoma

description: Testicular lymphoma that is resistant to treatment.


testicular lymphoma

description: A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site.


Recurrent Testicular Lymphoma

description: The reemergence of testicular lymphoma after a period of remission.


Testicular Follicular Lymphoma

description: A distinctive variant of follicular lymphoma arising from the testis. It has been reported with higher frequency in children, but is also seen rarely in adults. It differs biologically from nodal follicular lymphoma because it lacks evidence of the BCL2 translocation. It is usually of high cytological grade, usually grade 3A, but has a good prognosis, even without additional therapy beyond surgical excision. (WHO 2017)


name: Primary Diffuse Large B-Cell Lymphoma of the Testis

description: A diffuse large B-cell lymphoma that arises from the testis. It predominantly affects older men. Patients usually present with a unilateral hard painless mass. Bilateral masses have been described in a minority of patients.


name: Testicular Nasal Type Extranodal NK/T-Cell Lymphoma

description: A nasal type extranodal NK/T-cell lymphoma affecting the testis. Patients usually present with unilateral testicular enlargement. Bilateral involvement is rare. The prognosis is poor.


acid ceramidase isoform h2 (human)

An acid ceramidase (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:Q13510-2.


name: methylmalonic aciduria type A protein, mitochondrial sequence variant Y207C, transit peptide removed form (human)

description: A methylmalonic aciduria type A protein, mitochondrial (human) that has a Cys residue at the position equivalent to Tyr-207 of the amino acid sequence represented by UniProtKB:Q8IVH4 and that has had the transit peptide removed. UniProtKB:Q8IVH4, 66-418, Tyr-207, CHEBI:29950.


Malignant Pancreatic Somatostatinoma

description: A neuroendocrine tumor that arises from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss. It displays vascular invasion and metastasizes to other anatomic sites.


name: Pancreatic Somatostatin-Producing Neuroendocrine Tumor

description: A usually malignant, somatostatin producing neuroendocrine tumor, arising from the delta cells of the pancreas.  It may or may not be associated with inappropriate secretion of somatostatin and an associated clinical syndrome.


pancreatic somatostatinoma

description: A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss.


major salivary gland carcinoma

description: A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.


name: major salivary gland carcinoma ex pleomorphic adenoma

description: A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.


Recurrent Submandibular Gland Carcinoma

description: The reemergence of submandibular gland carcinoma after a period of remission.


name: Recurrent Parotid Gland Adenoid Cystic Carcinoma

description: The reemergence of parotid gland adenoid cystic carcinoma after a period of remission.


Parotid gland adenocarcinoma

description: An adenocarcinoma that arises from the parotid gland.


name: Stage IV Major Salivary Gland Carcinoma without Metastasis

description: Stage IV carcinoma of the major salivary glands without regional lymph nodes or distant metastases.


submandibular gland cancer

description: A malignant neoplasm involving the submandibular gland.


name: squamous cell carcinoma of submandibular gland

description: An invasive squamous cell carcinoma that arises from the submandibular gland.  It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.


name: Stage IVC Major Salivary Gland Cancer AJCC v8

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


name: Recurrent Submandibular Gland Undifferentiated Carcinoma

description: The reemergence of submandibular gland undifferentiated carcinoma after a period of remission.


name: mucoepidermoid carcinoma of submandibular gland

description: A mucoepidermoid carcinoma that involves the submandibular gland.


parotid gland squamous cell carcinoma

description: An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.


name: Recurrent Submandibular Gland Acinic Cell Carcinoma

description: The reemergence of submandibular gland acinic cell carcinoma after a period of remission.


name: Stage III Major Salivary Gland Cancer AJCC v7

description: Stage III includes: (T3, N0, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension.  Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension.  N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 7th ed.)


name: Stage IV Major Salivary Gland Cancer AJCC v8

description: Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); (Any T, N3, M0); IVC (Any T, Any N, M1). T4a: Moderately advanced disease.  Tumor invades skin, mandible, ear canal, and/or facial nerve. T0: No evidence of primary tumor. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. T4b: Very advanced disease.  Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-), or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or multiple ipsilateral, contralateral, or bilateral nodes any with ENE(+). M0: No distant metastasis. M1: Distant metastasis. (AJCC 8th ed.)


Major Salivary Gland Adenocarcinoma

description: An adenocarcinoma that arises from the parotid gland, submandibular gland, or sublingual gland.


name: Submandibular Gland Acinic Cell Carcinoma

description: An adenocarcinoma with serous acinar cell differentiation that arises from the submandibular gland.


name: Submandibular Gland Undifferentiated Carcinoma

description: A carcinoma that arises from the submandibular gland and is characterized by the presence of undifferentiated, anaplastic malignant epithelial cells.


adenocarcinoma of sublingual gland

description: An adenocarcinoma that arises from the sublingual gland.


name: Major Salivary Gland Cancer by AJCC v8 Stage

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


name: Stage I Major Salivary Gland Cancer AJCC v7

description: Stage I includes: T1, N0, M0.  T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Stage IVA Major Salivary Gland Cancer AJCC v7

description: Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Moderately advanced disease.  Tumor invades skin, mandible, ear canal, and/or facial nerve. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension.  Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension.  T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension.  N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension.  N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension.  M0: No distant metastasis. (AJCC 7th ed.)


name: Recurrent Submandibular Gland Mucoepidermoid Carcinoma

description: The reemergence of submandibular gland mucoepidermoid carcinoma after a period of remission.


name: Recurrent Parotid Gland Carcinoma ex Pleomorphic Adenoma

description: The reemergence of parotid gland carcinoma ex pleomorphic adenoma after a period of remission.


name: Stage II Major Salivary Gland Cancer AJCC v8

description: Stage II includes: T2, N0, M0. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Recurrent Parotid Gland Carcinoma

description: The reemergence of parotid gland carcinoma after a period of remission.


name: Stage IVB Major Salivary Gland Cancer AJCC v8

description: Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0). T4b: Very advanced disease.  Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N0: No regional lymph node metastasis. N3: Metastasis in a lymph node larger than 6 cm in greatest dimension and ENE(-); or in a single ipsilateral node larger than 3 cm in greatest dimension and ENE(+); or multiple ipsilateral, contralateral, or bilateral nodes any with ENE(+). M0: No distant metastasis. (AJCC 8th ed.)


name: Recurrent Parotid Gland Squamous Cell Carcinoma

description: The reemergence of parotid gland squamous cell carcinoma after a period of remission.


carcinoma of parotid gland

description: A carcinoma that involves the parotid gland.


name: Recurrent Submandibular Gland Squamous Cell Carcinoma

description: The reemergence of submandibular gland squamous cell carcinoma after a period of remission.


name: Stage IVA Major Salivary Gland Cancer AJCC v8

description: Stage IVA includes: (T4a, N0, M0); (T4a, N1, M0); (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0). T4a: Moderately advanced disease.  Tumor invades skin, mandible, ear canal, and/or facial nerve. T0: No evidence of primary tumor. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension. N0: No regional lymph node metastasis. N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(+); or more than 3 cm but not more than 6 cm in greatest dimension and ENE(-); or metastases in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-), or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)


sublingual gland carcinoma

description: A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma.


name: Stage 0 Major Salivary Gland Cancer AJCC v8

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


name: Major Salivary Gland Squamous Cell Carcinoma

description: A squamous cell carcinoma that arises from the parotid or submandibular gland.


name: Recurrent Parotid Gland Mucoepidermoid Carcinoma

description: The reemergence of parotid gland mucoepidermoid carcinoma after a period of remission.


name: major salivary gland mucoepidermoid carcinoma

description: A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.


name: Recurrent Parotid Gland Acinic Cell Carcinoma

description: The reemergence of parotid gland acinic cell carcinoma after a period of remission.


name: major salivary gland adenoid cystic carcinoma

description: An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.


name: Major Salivary Gland Cancer by AJCC v7 Stage

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


name: Submandibular Gland Carcinoma ex Pleomorphic Adenoma

description: A carcinoma that arises from a pleomorphic adenoma in the submandibular gland.  Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months.  Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis.  In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.


name: Major Salivary Gland Acinic Cell Carcinoma

description: An adenocarcinoma with serous acinar cell differentiation that arises from the major salivary glands.  The vast majority of cases occur in the parotid gland.  Patients usually present with a slow growing mass in the parotid area.


parotid gland acinic cell carcinoma

description: An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area.


submandibular gland adenocarcinoma

description: An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma.


name: mucoepidermoid carcinoma of parotid gland

description: A mucoepidermoid carcinoma that involves the parotid gland.


name: parotid gland carcinoma ex pleomorphic adenoma

description: A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.


name: Stage IV Major Salivary Gland Cancer AJCC v7

description: Stage IV includes: IVA (T4a, N0, M0); (T4a, N1, M0); (T1, N2, M0); (T2, N2, M0); (T3, N2, M0); (T4a, N2, M0); IVB (T4b, Any N, M0); (Any T, N3, M0); IVC (Any T, Any N, M1). T4a: Moderately advanced disease.  Tumor invades skin, mandible, ear canal, and/or facial nerve. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension.  Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension.  T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension.  T4b: Very advanced disease.  Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension.  N2: Metastasis in a single ipsilateral lymph node, more than 3 cm but not more than 6 cm in greatest dimension, or in multiple ipsilateral lymph nodes, none more than 6 cm in greatest dimension, or in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension.  N3: Metastasis in a lymph node, more than 6 cm in greatest dimension.  M0: No distant metastasis. M1: Distant metastasis. (AJCC 7th ed.)


name: Recurrent Submandibular Gland Carcinoma ex Pleomorphic Adenoma

description: The reemergence of submandibular gland carcinoma ex pleomorphic adenoma after a period of remission.


name: Stage I Major Salivary Gland Cancer AJCC v8

description: Stage I includes: T1, N0, M0. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Parotid Gland Undifferentiated Carcinoma

description: A carcinoma that arises from the parotid gland and is characterized by the presence of undifferentiated, anaplastic malignant epithelial cells.


parotid gland adenoid cystic carcinoma

description: An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.


name: Recurrent Submandibular Gland Adenoid Cystic Carcinoma

description: The reemergence of submandibular gland adenoid cystic carcinoma after a period of remission.


name: Stage III Major Salivary Gland Cancer AJCC v8

description: Stage III includes: (T3, N0, M0); (T0, N1, M0); (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T3: Tumor measuring more than 4 cm in greatest dimension, and/or tumor having extraparenchymal extension.  T0: No evidence of primary tumor. T1: Tumor measuring 2 cm or less in greatest dimension without extraparenchymal extension. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension.  N0: No regional lymph node metastasis.  N1: Metastasis in a single ipsilateral lymph node, 3 cm or less in greatest dimension and ENE(-). M0: No distant metastasis. (AJCC 8th ed.)


name: Stage IVC Major Salivary Gland Cancer AJCC v7

description: Stage IVC includes: Any T, Any N, M1. M1: Distant metastasis. (AJCC 7th ed.)


name: Stage II Major Salivary Gland Cancer AJCC v7

description: Stage II includes: T2, N0, M0. T2: Tumor measuring more than 2 cm, but not more than 4 cm in greatest dimension without extraparenchymal extension. Extraparenchymal extension is clinical or macroscopic evidence of invasion of soft tissues. Microscopic evidence alone does not constitute extraparenchymal extension for classification purposes.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Recurrent Parotid Gland Undifferentiated Carcinoma

description: The reemergence of parotid gland undifferentiated carcinoma after a period of remission.


name: submandibular gland adenoid cystic carcinoma

description: An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues.


name: Stage IVB Major Salivary Gland Cancer AJCC v7

description: Stage IVB includes: (T4b, Any N, M0); (Any T, N3, M0).  T4b: Very advanced disease.  Tumor invades skull base and/or pterygoid plates and/or encases carotid artery. N3: Metastasis in a lymph node, more than 6 cm in greatest dimension.  M0: No distant metastasis. (AJCC 7th ed.)


autosomal recessive osteopetrosis 4

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.


name: AIDS-Related Plasmablastic Lymphoma of the Oral Mucosa

description: A plasmablastic oral mucosa lymphoma in a patient with acquired immunodeficiency syndrome.


Plasmablastic Lymphoma of Mucosa Site

description: A plasmablastic lymphoma that arises from a mucosal site.


name: AIDS-Related Plasmablastic Lymphoma of Mucosa Site

description: A plasmablastic mucosal site lymphoma in a patient with acquired immunodeficiency syndrome.


name: Plasmablastic Lymphoma of the Oral Mucosa

description: A plasmablastic lymphoma that arises from the oral mucosa. It is usually associated with HIV infection.


Early Stage Esophageal Carcinoma

description: A stage term referring to esophageal carcinoma that is confined to the esophageal mucosa or submucosa.


name: localized junctional epidermolysis bullosa, non-Herlitz type

description: Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails.


name: junctional epidermolysis bullosa, non-Herlitz type

description: Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.


name: generalized junctional epidermolysis bullosa non-Herlitz type

description: Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement.


Typical perifissural nodule

description: A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).


Leukonychia

description: White discoloration of the nails.


Abnormal hypopharynx morphology

description: A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus.


Bifid epiglottis

description: A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.


Abnormal epiglottis morphology

description: An abnormality of the epiglottis.


Hypoplasia of the epiglottis

description: Hypoplasia of the epiglottis.


Epiglottic enlargement

description: Anlarged and edematous epiglottis. This sign can be observed on a lateral radiograph of the neck and it suggests a diagnosis of acute infectious epiglottitis.


Aplasia/Hypoplasia of the Epiglottis

description: This term applies if the Epiglottis is absent or hypoplastic.


Aplasia of the epiglottis

description: Absence of the epiglottis.


carbonic anhydrase 1 isoform 1 (human)

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


name: carbonic anhydrase 1, initiator methionine removed form (human)

description: A carbonic anhydrase 1 (human) that has had the initiator methionine removed. UniProtKB:P00915, 2-261.


name: ephrin type-B receptor 4 isoform h2 (human)

description: An ephrin type-B receptor 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:P54760-2.


acute intestinal ischemia

description: Ischemia of the intestine that is rapid in onset.


chronic gonococcal salpingitis

description: Chronic form of gonococcal salpingitis.


Hypergastrinemia

description: An elevated amount of gastrin in the blood.


name: Abnormal circulating gastrin concentration

description: An abnormal concentration of gastrin in the blood.


Breast Cellular Fibroadenoma

description: A fibroadenoma characterized by the presence of a pericanalicular growth pattern, increased stromal cellularity, and less than 2 mitoses per 10 high-power fields.


name: histone-lysine N-methyltransferase EHMT2 methylated 4 (human)

description: A histone-lysine N-methyltransferase EHMT2 (human) that has been methylated on the residue at the position equivalent to Cys-743 of the amino acid sequence represented by UniProtKB:Q96KQ7-1. Example: UniProtKB:Q96KQ7-1, Cys-743, MOD:00660.


description: A disorder seen following cancer chemotherapy. It typically manifests a few years after initiation of epipodophyllotoxin chemotherapy. Mutagenic potential of these non-intercalating DNA topoisomerase II inhibitors is believed to be increased with concurrent use of asparaginase or granulocyte colony-stimulating factor. Balanced translocations involving chromosomal bands 11q23 and 21q22 are commonly associated with this disorder. Clinical signs may include fatigue, dyspnea, bruising and frequent infections. Clinical course usually progresses to acute myeloid leukemia though most epipodophyllotoxin-related leukemias do not have an antecedent myelodysplastic phase. Prognosis is dismal with survivability usually less than one year.


name: liver inflammatory myofibroblastic tumor

description: A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human)

description: A sex hormone-binding globulin isoform with conserved glycosylation sites (human) that has had the signal peptide removed and has been post-translationally modified to include O-glycosylation and N-glycosylation on residues equivalent to Thr-36 and Asn-396, respectively, of the amino acid sequence represented by UniProtKB:P04278-1. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, MOD:00831.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 13 (human)

description: A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7846. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7846.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 15 (human)

description: A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7764. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7764.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 12 (human)

description: A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7763. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7763.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 10 (human)

description: A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7863. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7863.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 14 (human)

description: A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7674. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7674.


name: sex hormone-binding globulin isoform, signal peptide removed glycosylated 11 (human)

description: A sex hormone-binding globulin isoform, signal peptide removed glycosylated 3 (human) whose N-linked glycan structure is UniCarbKB:7834. Example: UniProtKB:P04278-1, 30-402, Thr-36, MOD:00164|Asn-396, UniCarbKB:7834.


name: phosphoenolpyruvate carboxykinase deficiency, cytosolic

description: PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).


Eventration

description: A localized protrusion of a structure into an adjacent structure or cavity.


diaphragmatic eventration

description: A congenital or acquired abnormality characterized by elevation of the hemidiaphragm.


name: Epidermal Growth Factor Receptor Inhibitor-Induced Acneiform Lesion

description: Acneiform dermatitis caused by epidermal growth factor receptor inhibitory therapy in a dose-dependent manner.


EBV-Related Carcinoma

description: Carcinoma that develops in individuals infected with Epstein-Barr virus (EBV), and in which there is a well-documented association between the neoplastic process and EBV.


name: Epstein-Barr virus-associated gastric carcinoma

description: Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis.


leukocyte adhesion deficiency 3

description: Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder.


name: Low Grade Pancreatic Intraepithelial Neoplasia

description: Pancreatic intraepithelial neoplasia characterized by the presence of low grade epithelial dysplasia.


Pancreatic Intraepithelial Neoplasia-1A

description: A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form flat architectural patterns.  Mild cytological atypia is present.


Moderate pancreatic duct dysplasia

description: A pancreatic mucinous intraepithelial neoplasia characterized by the presence of papillary and less often flat architectural patterns.  Moderate cytological atypia is present with some loss of nuclear polarity, nuclear crowding or hyperchromatism.


Pancreatic Intraepithelial Neoplasia-1B

description: A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form papillary, micropapillary, or basally pseudostratified architectural patterns.  Mild cytological atypia is present.


Pancreatic Intraepithelial Neoplasia-1

description: A pancreatic intraepithelial neoplasia characterized by the presence of tall columnar cells that form flat or papillary, micropapillary, and basally pseudostratified architectural patterns.  Mild cytological atypia is present.


Early balding

description: Loss of scalp hair at an earlier than normal age.


name: ALK tyrosine kinase receptor sequence variant L1196N, signal peptide removed form (human)

description: An ALK tyrosine kinase receptor (human) that has an Asn residue at the position equivalent to Leu-1196 of the amino acid sequence represented by UniProtKB:Q9UM73 and that has had the signal peptide removed. UniProtKB:Q9UM73, 19-1620, Leu-1196, CHEBI:50347.


Erectile dysfunction

description: A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.


name: Grade 3 Major Visceral Artery Intra-Operative Injury, CTCAE


name: Grade 3 Neonatal Administration Site Complication, AE

description: An administration site complication adverse event in a newborn characterized by ulceration or necrosis; severe tissue damage; operative intervention indicated.


name: Neonatal Administration Site Complication, AE

description: An adverse event in a newborn characterized by local irritation or a complication at the administration site of a drug.


name: Grade 2 Neonatal Administration Site Complication, AE

description: An administration site complication adverse event in a newborn characterized by erythema with associated symptoms (e.g., edema, pain, induration, phlebitis).


name: Grade 5 Neonatal Administration Site Complication, AE

description: An administration site complication adverse event in a newborn which results in death.


name: Grade 4 Neonatal Administration Site Complication, AE

description: An administration site complication adverse event in a newborn characterized by life-threatening consequences; urgent intervention indicated.


name: Grade 1 Neonatal Administration Site Complication, AE

description: An administration site complication adverse event in a newborn characterized by painless edema.


taste receptor type 2 member 5

A taste receptor type 2 that is a translation product of the human TAS2R5 gene or a 1:1 ortholog thereof.


name: Patient-Specific Neoantigen-Positive Malignant Solid Neoplasm

description: A malignant solid neoplasm that expresses unique tumor-specific neoantigens in a single patient.


name: Elevated circulating heptacarboxylporphyrin concentration

description: The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal.


Grade 2 Myocardial Infarction, CTCAE

description: Asymptomatic and cardiac enzymes minimally abnormal and no evidence of ischemic ECG changes


name: serine/threonine-protein kinase 26 isoform h2 (human)

description: A serine/threonine-protein kinase 26 (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:Q9P289-2.


name: fibroblast growth factor receptor 2 sequence variant N549H, signal peptide removed form (human)

description: A fibroblast growth factor receptor 2 (human) that has a His residue at the position equivalent to Asn-549 of the amino acid sequence represented by UniProtKB:P21802-1 and that has had the signal peptide removed. Example: UniProtKB:P21802-1, 22-821, Asn-549, CHEBI:29979.


name: B Acute Lymphoblastic Leukemia with TCF3-HLF Rearrangement

description: An exceptionally rare childhood B-acute lymphoblastic leukemia associated with TCF3-HLF gene rearrangement resulting in the formation of TCF3-HLF chimeric transcription factor. The prognosis is poor.


name: B Acute Lymphoblastic Leukemia with HLF Rearrangement

description: An exceptionally rare childhood B-acute lymphoblastic leukemia associated with HLF gene rearrangement. The prognosis is poor.


name: B Acute Lymphoblastic Leukemia with TCF4-HLF Rearrangement

description: An exceptionally rare childhood B-acute lymphoblastic leukemia associated with TCF4-HLF gene rearrangement resulting in the formation of TCF4-HLF chimeric transcription factor. The prognosis is poor.


Retinal fold

description: A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.


name: Retinal detachments and defects, unspecified

description: An imperfection if the retina of the eye in association with detachment of the retina from its blood supply.


Retinal defect, unspecified

description: An imperfection of the retina of the eye.


rhegmatogenous retinal detachment

description: Retinal detachment secondary to retinal tear or break.


Tractional retinal detachment

description: A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.


name: chromosome 4Q32.1-q32.2 triplication syndrome


name: partial duplication of the long arm of chromosome 4

description: Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.


distal trisomy 4q

description: Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.


Chronic gouty nephropathy

description: Chronic kidney disease resulting from deposition of urate crystals or microtophi in the medullary interstitium.


Non-Neoplastic Kidney Disorder

description: A non-neoplastic disorder that affects the renal parenchyma and/or renal pelvis. Representative examples include glomerulonephritis and pyelonephritis.


Minimal mesangial lupus nephritis

description: A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence.


Nephrotic Syndrome - ADCK4 Associated

description: Nephrotic syndrome attributed to mutation(s) in the ADCK4 gene.


multicystic dysplastic kidney

description: Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.


Nephrotic Syndrome - MYO1E Associated

description: Nephrotic syndrome attributed to mutation(s) in the MYO1E gene.


karyomegalic interstitial nephritis

description: Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene.