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

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


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

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


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

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


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

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


small conductance calcium-activated potassium channel protein 2

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


small conductance calcium-activated potassium channel protein 3

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


intermediate conductance calcium-activated potassium channel protein 4

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


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

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


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

A small conductance calcium-activated potassium channel protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UGI6-2.


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

A small conductance calcium-activated potassium channel protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UGI6-3.


heme oxygenase 1 isoform 1 (rat)

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


posterior corneal pigmentation

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


microphthalmia, isolated, with coloboma 4


Hemoglobin SE disease

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


Stage IV Colorectal Neuroendocrine Tumor AJCC v8

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


Stage IV Colon Neuroendocrine Tumor AJCC v8


Stage IV Rectal Neuroendocrine Tumor AJCC v8


Pyogenic granuloma of oral mucosa

A lobular hemangioma arising from the oral mucosa.


Airway Infantile Hemangioma

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


Senile hemangioma of lip

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


Pyogenic granuloma of skin and subcutaneous tissue

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


Anastomosing Hemangioma

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


Infantile hemangioma of liver

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


Infantile hemangioma

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


Multiple Lobular Capillary Hemangiomas

A lobular hemangioma present in multiple anatomic sites.


Capillary hemangioma of orbit

A capillary hemangioma arising from the orbit.


Cardiac Capillary Hemangioma

A capillary hemangioma arising from the heart.


prostate-specific antigen N-glycosylated 78 (human)

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


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

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


interleukin-1 receptor antagonist protein isoform 1 (human)

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


secondary neoplasm

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


metastatic malignant neoplasm in the eye

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


metastatic malignant neoplasm

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


secondary malignant neoplasm

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


Foreign body in penis

Extraneous material located within the penis.


Postoperative shock

A state of shock following a surgical operation.


Stage II Appendix Neuroendocrine Tumor AJCC v7

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


Adult Ependymoma

An ependymoma occurring in adults.


Grade 5 Cerebrospinal Fluid Leakage, CTCAE

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

Death


Advanced Genitourinary System Carcinoma

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


Advanced Bladder Urothelial Carcinoma

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


Advanced Urethral Urothelial Carcinoma

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


Advanced Vaginal Adenosquamous Carcinoma

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


Advanced Endometrial Carcinoma

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


Advanced Fallopian Tube Carcinoma

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


Advanced Ureter Urothelial Carcinoma

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


Advanced Cervical Squamous Cell Carcinoma

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


Advanced Penile Carcinoma

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


Advanced Vaginal Squamous Cell Carcinoma

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


Advanced Cervical Carcinoma

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


Advanced Bladder Carcinoma

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


Advanced Ovarian Carcinoma

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


Advanced Urothelial Carcinoma

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


Advanced Renal Pelvis and Ureter Urothelial Carcinoma

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


Advanced Microsatellite Stable Ovarian Carcinoma

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


Advanced Microsatellite Stable Endometrial Carcinoma

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


Advanced Vaginal Carcinoma

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


Advanced Vulvar Carcinoma

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


Advanced Prostate Carcinoma

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


Advanced Vaginal Squamous Cell Carcinoma, Not Otherwise Specified

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


Advanced Cervical Adenosquamous Carcinoma

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


hereditary continuous muscle fiber activity

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


basal ganglia calcification, idiopathic, 1

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


bromodomain-containing protein 4 isoform B (human)

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


bromodomain-containing protein 4 isoform C (human)

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


bromodomain-containing protein 4 isoform A (human)

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


retinitis pigmentosa 2

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


RP2-related retinopathy

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


Recurrent Grade II Lymphomatoid Granulomatosis

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


Recurrent Grade I Lymphomatoid Granulomatosis

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


Recurrent Childhood Lymphomatoid Granulomatosis

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


Extraocular Cutaneous Sebaceous Carcinoma

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


Conjunctival Sebaceous Carcinoma

A rare sebaceous carcinoma that arises from the conjunctiva.


sebaceous carcinoma of salivary gland

A rare sebaceous carcinoma that arises from the salivary glands.


Head and Neck Sebaceous Carcinoma

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


oxytocin-neurophysin 1 isoform 1 (human)

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


Tropical Disease

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


infection by Trypanosoma gambiense

Trypanosomiasis caused by infection by Trypanosoma brucei gambiense.


early yaws

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


infection by Trypanosoma rhodesiense

An infection with Trypanosoma brucei rhodesiense.


late yaws

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


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


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


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


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


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


chronic lymphoproliferative disorder of NK-cells

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


autosomal recessive early-onset Parkinson disease 23

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


Parkinson disease 17

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


juvenile onset Parkinson disease 19A

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


Parkinson disease 21

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


Kufor-Rakeb syndrome

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


autosomal recessive juvenile Parkinson disease 2

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


early-onset Parkinson disease 20

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


parkinsonian-pyramidal syndrome

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


late-onset Parkinson disease

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


autosomal dominant Parkinson disease 8

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


autosomal recessive early-onset Parkinson disease 7

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


young-onset Parkinson disease

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


autosomal dominant Parkinson disease 4

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


Parkinson disease 22, autosomal dominant

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


autosomal recessive early-onset Parkinson disease 6

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


autosomal recessive Parkinson disease 14

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


hymenolepiasis

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


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


Grade 5 Tracheal Fistula, CTCAE

Death


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

A receptor-type tyrosine-protein kinase FLT3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36888-2.


receptor-type tyrosine-protein kinase FLT3

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


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

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


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

A receptor-type tyrosine-protein kinase FLT3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36888-1.


congenital aortic valve insufficiency

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


Congenital insufficiency of pulmonary valve

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


Grade 4 Bone Marrow Hypocellular, CTCAE

Aplastic persistent for longer than 2 weeks


intracranial sinus thrombosis

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


cavernous sinus thrombosis

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


Arteriovenous fistula stenosis

Narrowing of the lumen of an arteriovenous fistula.


Triple-Class Refractory Plasma Cell Myeloma

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


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

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


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


hydroxycarboxylic acid receptor 2 isoform 1 (rat)

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


hydroxycarboxylic acid receptor 2

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


hydroxycarboxylic acid receptor 2 isoform 1 (mouse)

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


apocrine sweat gland disorder

A disease that involves the apocrine sweat gland.


chromhidrosis

A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.


familial acne inversa

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


acne inversa, familial, 3

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


acne inversa, familial, 2

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


apocrine adenoma

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


apocrine sweat gland cancer

A malignant neoplasm involving the apocrine sweat gland.


acne inversa, familial, 1

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


apocrine sweat gland neoplasm

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


Dextrocardia Situs Solitus

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


Recurrent Childhood Pineoblastoma

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


Trichomonas prostatitis

Infection of the prostate gland caused by Trichomonas vaginalis.


Blasts 9 Percent or Less of Peripheral Blood White Cells

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


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

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


Renal Tubular Acidosis Associated With Deafness

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


Fetal acidosis

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


Refractory Chronic Myelomonocytic Leukemia

Chronic myelomonocytic leukemia that is resistant to treatment.


Wilson-Turner syndrome

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


myasthenic syndrome, congenital, 1B, fast-channel

A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.


autosomal recessive congenital ichthyosis 3

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene.


autosomal recessive congenital ichthyosis 4B

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.


presynaptic congenital myasthenic syndrome


congenital myasthenic syndrome 10

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.


congenital myasthenic syndrome 2A

A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.


blepharocheilodontic syndrome 2

Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.


inverse Marcus-Gunn phenomenon

Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.


congenital myasthenic syndrome with tubular aggregates

A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.


ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.


blepharophimosis-epicanthus inversus-ptosis due to copy number variations

Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.


ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.


camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).


blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.


congenital myasthenic syndrome 3A

A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.


congenital myasthenic syndrome 20

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.


blepharocheilodontic syndrome

An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.


myasthenic syndrome, congenital, 24, presynaptic


postaxial acrofacial dysostosis

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.


congenital myasthenic syndrome 16

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.


Barber-Say syndrome

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.


oculopharyngodistal myopathy

Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.


fibrosis of extraocular muscles, congenital, with synergistic divergence


metopic ridging-ptosis-facial dysmorphism syndrome


congenital myasthenic syndrome 14

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.


congenital myasthenic syndrome 9

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


isolated congenital ectropion

A congenital ectropion that is not part of a larger syndrome.


fibrosis of extraocular muscles, congenital, 3b


lamellar ichthyosis

A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.


congenital myasthenic syndrome 18

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.


tarsal kink syndrome

Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.


myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive


myasthenia, congenital, refractory to acetylcholinesterase inhibitors


keratosis follicularis spinulosa decalvans

Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.


Char syndrome

Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.


blepharocheilodontic syndrome 1

Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.


congenital fibrosis of extraocular muscles type 1

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.


congenital myasthenic syndrome 2C

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.


blepharophimosis, ptosis, and epicanthus inversus syndrome

Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).


Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.


A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.


Baraitser-winter syndrome 2

Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.


myasthenic syndrome, congenital, 25, presynaptic


congenital myasthenic syndrome 4A

A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.


congenital myasthenic syndrome 4B

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.


fibrosis of extraocular muscles, congenital, 2

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.


fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.


congenital myasthenic syndrome 8

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


ptosis-vocal cord paralysis syndrome

Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983.


blepharophimosis-ptosis-epicanthus inversus syndrome type 2


congenital myasthenic syndromes with glycosylation defect


congenital myasthenic syndrome 13

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.


atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.


ichthyosis, lamellar, autosomal dominant


myotonic dystrophy type 2

Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.


Martinez Monasterio Pinheiro syndrome

A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder.


congenital myasthenic syndrome 21

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.


congenital myasthenic syndrome 19

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.


fibrosis of extraocular muscles, congenital, 3c


autosomal recessive congenital ichthyosis 8

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene.


congenital myasthenic syndrome 3C

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.


Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.


Acrootoocular syndrome

Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disk swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.


autosomal recessive congenital ichthyosis 6

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.


blepharophimosis-ptosis-epicanthus inversus syndrome type 1


oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.


orthostatic hypotension 1

A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.


autosomal recessive congenital ichthyosis 5

An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13.


Baraitser-Winter syndrome 1

Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.


postsynaptic congenital myasthenic syndrome


fibrosis of extraocular muscles, congenital, 5

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.


isolated congenital entropion

A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.


congenital myasthenic syndrome 3B

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.


Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.


keratosis follicularis spinulosa decalvans, autosomal dominant


blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure.


congenital myasthenic syndrome 1A

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.


autosomal recessive congenital ichthyosis 4A

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.


congenital myasthenic syndrome 7

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.


keratosis follicularis spinulosa decalvans, X-linked


maternally-inherited progressive external ophthalmoplegia


congenital myasthenic syndrome 15

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.


Ptosis-strabismus-ectopic pupils syndrome is characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.


ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1

An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.


congenital myasthenic syndrome 17

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.


mitogen-activated protein kinase 7 isoform h2 (human)

A mitogen-activated protein kinase 7 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13164-2.


mitogen-activated protein kinase 7

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


mitogen-activated protein kinase 7 isoform h3 (human)

A mitogen-activated protein kinase 7 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13164-3.


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

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


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

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


mitogen-activated protein kinase 7 isoform 1 phosphorylated 1 (human)

A mitogen-activated protein kinase 7 isoform 1 phosphorylated 1 in human. UniProtKB:Q13164-1, Thr-28/Thr-219/Thr-733, MOD:00047|Tyr-221, MOD:00048|Ser-421/Ser-433/Ser-496/Ser-731, MOD:00046.


mitogen-activated protein kinase 7 isoform h4 (human)

A mitogen-activated protein kinase 7 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13164-4.


mitogen-activated protein kinase 7 isoform 1 (human)

A mitogen-activated protein kinase 7 isoform 1 that is encoded in the genome of human.


osteogenesis imperfecta type 12

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.


combined immunodeficiency due to DOCK8 deficiency

Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).


heat shock protein HSP 90-alpha isoform 1 (human)

A heat shock protein HSP 90-alpha (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:P07900-1.


cftr isoform 1 phosphorylated 2 (human)

A cftr isoform 1 phosphorylated 2 in human. Example: UniProtKB:P13569-1, Ser-686/Ser-737/Ser-768/Ser-790/Ser-795/Ser-813, MOD:00046.


cytochrome P450 3A7 isoform h1 (human)

A cytochrome P450 3A7 (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:P24462-1.


cytochrome P450 3A7 isoform h2 (human)

A cytochrome P450 3A7 (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:P24462-2.


Acrodysostosis 1 with or without hormone resistance

An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.


acrodysostosis

Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.


acrodysostosis 2 with or without hormone resistance

Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.


ethmoidal sinus neoplasm

A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


benign neoplasm of sphenoidal sinus

A non-metastasizing neoplasm that arises from the sphenoid sinus.


sphenoidal sinus neoplasm

A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


maxillary sinus neoplasm

A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


benign neoplasm of ethmoidal sinus

A benign neoplasm that involves the ethmoid sinus.


benign neoplasm of maxillary sinus

A benign neoplasm that involves the maxillary sinus.


paranasal sinus cancer

A primary or metastatic malignant neoplasm involving the paranasal sinuses.


ethmoid sinus ectopic meningioma

An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus.


frontal sinus neoplasm

A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


benign neoplasm of frontal sinus

A benign neoplasm that involves the frontal sinus.


paranasal sinus lymphoma

A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type.


induced myeloid leukemia cell differentiation protein Mcl-1 isoform h1 (human)

An induced myeloid leukemia cell differentiation protein Mcl-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:Q07820-1.


histone deacetylase 1 isoform 1 (rat)

A histone deacetylase 1 isoform 1 that is encoded in the genome of rat.


histone deacetylase 1 isoform 1 (human)

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


histone deacetylase 1 isoform 1 (mouse)

A histone deacetylase 1 isoform 1 that is encoded in the genome of mouse.


Carcinoid tumor of the duodenum

A well differentiated, low grade neuroendocrine neoplasm (carcinoid tumor) that arises from the duodenum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


activated factor Xa heavy chain (human)

An activated factor Xa heavy chain in human. UniProtKB:P00742, 235-488.


Grade 3 Chylothorax, CTCAE

Severe symptoms; elective operative intervention indicated


adult germ cell tumor

A germ cell tumor that occurs during adulthood.


adult teratoma

A teratoma that occurs in an adult.


adult cystic teratoma

A cystic teratoma that occurs in an adult.


amyotrophic lateral sclerosis type 11

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene.


thymidine phosphorylase isoform h2 (human)

A thymidine phosphorylase (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:P19971-2.


serine/threonine-protein kinase N3 phosphorylated 1 (human)

A serine/threonine-protein kinase N3 (human) that has been phosphorylated on the residue at the position equivalent to Thr-718 of the amino acid sequence represented by UniProtKB:Q6P5Z2. UniProtKB:Q6P5Z2, Thr-718, MOD:00047.


facioscapulohumeral muscular dystrophy 1

Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene.


Gollop-Wolfgang complex

Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.


Recurrent Salivary Duct Carcinoma

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


tissue-type plasminogen activator N-glycosylated 16 (human)

A tissue-type plasminogen activator (human) that has been N-glycosylated at the residue equivalent to Asn-152 of the amino acid sequence represented by UniProtKB:P00750-1, in which the glycan structure is represented by GlyTouCan:G77038WW. Example: UniProtKB:P00750-1, Asn-152, MOD:00160~GNO:G77038WW.


Stage I Rectal Neuroendocrine Tumor AJCC v8

Stage I includes: T1, N0, M0. T1: Tumor invading the lamina propria or submucosa and measuring 2 cm or less. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


cornea plana 2

Any cornea plana in which the cause of the disease is a mutation in the KERA gene.


acetylcholine receptor subunit delta isoform 1 (human)

An acetylcholine receptor subunit delta isoform 1 that is encoded in the genome of human.


acetylcholine receptor subunit delta, signal peptide removed form (human)

An acetylcholine receptor subunit delta (human) that has had the signal peptide removed. UniProtKB:Q07001, 22-517.


acetylcholine receptor subunit delta isoform h2 (human)

An acetylcholine receptor subunit delta (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:Q07001-2.


CIC-DUX4 Sarcoma

An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4 gene on chromosome 4. The translocation results in CIC-DUX4, t(4;19)(q35;q13) fusions.


Cacosmia

A hallucination of an unpleasant odor.


aminodiol

An amino alcohol having two hydroxy functional groups.


corrinoid adenosyltransferase MMAB

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


corrinoid adenosyltransferase MMAB, transit peptide removed form (human)

A corrinoid adenosyltransferase MMAB (human) that has had the transit peptide removed. UniProtKB:Q96EY8, 33-250.


5-hydroxytryptamine receptor 2A isoform h2 (human)

A 5-hydroxytryptamine receptor 2A (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:P28223-2.


chronic lymphocytic leukemia/small lymphocytic lymphoma

An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood.


intrapelvic lymph node leukemic reticuloendotheliosis


refractory hairy cell leukemia

Hairy cell leukemia that is resistant to treatment.


pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma

A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years.


chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation

A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years.


hairy cell leukemia variant

Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C).


pars planitis

An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders.


transcriptional enhancer factor TEF-5, initiator methionine removed form (human)

A transcriptional enhancer factor TEF-5 (human) that has had the initiator methionine removed. UniProtKB:Q99594, 2-435.


Breast Classic Lobular Carcinoma In Situ Type B

Breast classic lobular carcinoma in situ  characterized by the presence of neoplastic cells with nuclei of various sizes and shapes.


Prognostic Stage IIIA Breast Cancer AJCC v8

Stage IIIA includes: (T0-1, N1, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T2, N0, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T2, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Any); (T2, N1, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N1, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Negative); (T2, N1, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N1, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N1, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Negative); (T3, N0, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N0, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Negative); (T3, N0, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N0, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T3, N0, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Negative); (T0-2, N2, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G1, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T0-2, N2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-2, N2, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-2, N2, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); ( T0-2, N2, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T3, N1-2, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G1, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T3, N1-2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T3, N1-2, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T3, N1-2, M0, G2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T4, N0-2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (Any T, N3, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. T4: Tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or macroscopic nodules); invasion of the dermis alone does not qualify as T4. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. N3: Tumor with metastases in 10 or more axillary lymph nodes; or in infraclavicular (level III axillary) lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the presence of one or more positive level I, II axillary lymph nodes; or in more than three axillary lymph nodes and micrometastases or macrometastases by sentinel lymph node biopsy in clinically negative ipsilateral internal mammary lymph nodes; or in ipsilateral supraclavicular lymph nodes. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)


Breast Ductal Carcinoma In Situ and Invasive Lobular Carcinoma

A breast carcinoma characterized by the presence of a ductal carcinoma in situ component and an invasive lobular carcinomatous component.


Localized Breast Carcinoma

Breast carcinoma that is confined to the site in which it initially manifested without evidence of spread to other anatomic sites.


Invasive Breast Cribriform Carcinoma

An invasive adenocarcinoma of the breast with a favorable clinical outcome, characterized by the presence of a sieve-like or cribriform infiltrating pattern.


Intraductal Micropapillary Breast Carcinoma

Breast ductal carcinoma in situ characterized by the presence of neoplastic epithelial cells arranged in micropapillary patterns.


Solid papillary carcinoma in situ of breast

Breast solid papillary carcinoma characterized by the presence of nodules with rounded, well-circumscribed contours and a distribution pattern consistent with an in situ process. (WHO 2019)


Stage IIA Breast Carcinoma

Stage IIA includes: (T0, N1, M0); (T1, N1, M0); (T2, N0, M0).  T0: No evidence of primary tumor.  T1: Tumor 20 mm or less in greatest dimension.  T1 includes T1mi. T1mi: Tumor 1 mm or less in greatest dimension. T2: Tumor more than 20 mm but not more than 50 mm in greatest dimension.  N1: Metastasis to movable ipsilateral level I, II axillary lymph node(s).  N0: No regional lymph node metastasis.  M0: No clinical or radiographic evidence of distant metastasis.  M0 includes M0(i+).  (AJCC 6th and 7th Eds.)


Stage IIIC Breast Cancer AJCC v7

Stage IIIC includes: Any T, N3, M0.  N3: Metastases in ipsilateral infraclavicular (level III) axillary lymph nodes(s) with or without level I, II axillary lymph node involvement; or in clinically detected ipsilateral internal mammary lymph node(s) with clinically evident level I, II axillary lymph node metastases; or metastases in ipsilateral supraclavicular lymph node(s) with or without axillary or internal mammary lymph node involvement.  M0: No clinical or radiographic evidence of distant metastasis.  M0 includes M0(i+).  (AJCC 7th Ed.)


breast angiosarcoma

A malignant vascular neoplasm arising from the breast.


Invasive Breast Lobular Carcinoma, Solid Variant

A grade I invasive lobular carcinoma of the breast, characterized by the presence of neoplastic cells that form trabeculae and groups infiltrating collagen bundles.


Metastatic Triple-Negative Breast Carcinoma

A triple-negative breast carcinoma that has spread from its original site of growth to another anatomic site.


Invasive Breast Lobular Carcinoma with Predominant In Situ Component

A breast carcinoma characterized by the presence of a predominant lobular carcinoma in situ component and a minor component of invasive carcinoma.


Recurrent Malignant Breast Neoplasm

The reemergence of a malignant breast neoplasm after a period of remission.


Invasive Breast Lobular Carcinoma, Alveolar Variant

A grade I invasive lobular carcinoma of the breast, characterized by the presence of round groups of neoplastic cells.


Hereditary Female Breast Carcinoma

Breast carcinoma that has developed in female relatives of patients with history of breast carcinoma.


High Grade Ductal Breast Carcinoma In Situ

Breast ductal carcinoma in situ characterized by the presence of neoplastic cells with severe dysplasia and the formation of micropapillary, cribriform, or solid patterns. The nuclei show marked pleomorphism and have prominent nucleoli. Mitotic activity is usually present. There is comedo-type of necrosis present in the ducts. The necrotic debris is surrounded by pleomorphic malignant cells.


Breast Carcinoma Metastatic in the Liver

A carcinoma that originates from the breast and has spread to the liver.


Unresectable HER2-Negative Breast Carcinoma

HER2-negative breast carcinoma that is not amenable to surgical resection.


Histiocytoid Breast Carcinoma

A rare variant of invasive lobular breast carcinoma characterized by the presence of histiocyte-like malignant cells with pale cytoplasm forming sheets or linear patterns. Apocrine differentiation may be present. It usually has an aggressive clinical course.


Squamous Cell Carcinoma In Situ of the Nipple

An intraepidermal squamous cell carcinoma involving the area of the nipple.


malignant neoplasm of breast stage I

Stage I includes: IA: T1, N0, M0 and IB: (T0, N1mi, M0); (T1, N1mi, M0).  T1: Tumor 20 mm or less in greatest dimension.  T1 includes T1mi. T1mi: Tumor 1 mm or less in greatest dimension.  T0: No evidence of primary tumor.  N0: No regional lymph node metastasis.  N1mi: Nodal micrometastases.  M0: No clinical or radiographic evidence of distant metastasis.  M0 includes M0(i+).  (AJCC 7th Ed.)


Prognostic Stage 0 Breast Cancer AJCC v8

Stage 0 includes: Tis, N0, M0, G1-3, HER2 Status: Any, ER Status: Any, PR Status: Any. Tis: Ductal carcinoma in situ. Lobular carcinoma in situ is a benign entity and is removed from TNM staging in the AJCC Cancer Staging Manual, 8th Edition. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)


Refractory HER2-Positive Breast Carcinoma

HER2-positive breast carcinoma that is resistant to treatment.


Invasive Breast Solid Papillary Carcinoma

Breast solid papillary carcinoma associated with areas featuring strands or large clusters of tumor cells. (WHO 2019)


Breast Florid Lobular Carcinoma In Situ

Breast lobular carcinoma in situ characterized by the presence of neoplastic cells with cytological features identical to classic lobular carcinoma in situ, but with marked distention of terminal ductal lobular units or ducts.


adenocarcinoma of breast with neuroendocrine differentiation

An invasive breast carcinoma characterized by the presence of focal neuroendocrine differentiation.


Metastatic Breast Inflammatory Carcinoma

Inflammatory carcinoma of the breast that has spread from its original site of growth to another anatomic site.


Metastatic Breast Neuroendocrine Tumor G1

A well differentiated neuroendocrine tumor that arises from the breast and has metastasized to other anatomic sites.


Stage IV Breast Cancer AJCC v6 and v7

Stage IV includes: Any T, Any N, M1.  M1: Distant metastasis. (AJCC 6th and 7th Eds.)


Breast Classic Lobular Carcinoma In Situ

Breast lobular carcinoma in situ characterized by the presence of dyscohesive proliferations of type A and/or type B epithelial cells. Type A cells are small cells with uniform hyperchromatic nuclei, whereas type B cells have slightly larger vesicular nuclei, with mild variability in size and shape and with small nucleoli. The cell populations may be mixed in individual proliferations. (WHO 2019)


Atypical Medullary Breast Carcinoma

An invasive ductal breast carcinoma characterized by the presence of a predominantly syncytial architectural pattern. It may have some, but not all the strictly defined additional morphologic criteria which are necessary for the diagnosis of medullary breast carcinoma (presence of a diffuse lymphoplasmacytic infiltrate, neoplastic round cells with abundant cytoplasm and vesicular nuclei, complete histological circumscription, and absence of glandular or tubular structures). It does not have the relatively favorable outcome that characterizes medullary breast carcinoma.


Breast Periductal Stromal Tumor

A rare, low-grade malignant stromal tumor that arises from the breast. It is characterized by the proliferation of atypical stromal spindle cells that surround benign tubules and ducts in a pericanalicular pattern. Mitotic activity is present. The tumor has a multinodular and infiltrative growth pattern and lacks the leaf-like architecture of phyllodes tumor. Wide excision with negative margins is the treatment of choice.


Primary angiosarcoma of breast

An angiosarcoma that arises from the breast parenchyma and is not associated with radiation exposure.


Metastatic HER2-Negative Breast Carcinoma

HER2-negative breast adenocarcinoma that has spread to another anatomic site.


Recurrent HER2-Positive Breast Carcinoma

The reemergence of HER2-positive breast carcinoma after a period of remission.


Anatomic Stage 0 Breast Cancer AJCC v8

Stage 0 includes: Tis, N0, M0. Tis: Ductal carcinoma in situ. Lobular carcinoma in situ is a benign entity and is removed from TNM staging in the AJCC Cancer Staging Manual, 8th Edition. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)


Stage IIIC Breast Cancer AJCC v6

Stage IIIC Breast Cancer was added in the 6th Edition AJCC Staging Manual, on the basis of metastasis to the infraclavicular lymph nodes (N3) plus any T, M0.


Hormone Receptor-Positive Breast Carcinoma

Breast adenocarcinoma that is positive for estrogen or progesterone receptors.


Refractory Hormone Receptor-Positive Breast Carcinoma

Hormone receptor-positive breast adenocarcinoma that does not respond to treatment.


breast leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells.


Malignant nipple neoplasm male

A malignant neoplasm that affects the area of the nipple in males.


Metastatic Breast Neuroendocrine Neoplasm

A neuroendocrine neoplasm that arises from the breast and has metastasized to another anatomic site.


Inflammatory carcinoma of breast stage III

Inflammatory breast carcinoma is classified as AJCC Stage IIIB (T4d) unless other criteria indicate more advanced staging.


High Grade Breast Mucoepidermoid Carcinoma

An aggressive mucoepidermoid carcinoma characterized by the presence of focal necrosis and high mitotic activity.  Lymph node and distant metastases are common.  The prognosis is usually poor.


Postradiation Breast Angiosarcoma

A malignant vascular neoplasm arising from the skin of the breast secondary to radiation treatment for breast cancer.


Invasive Breast Ductal Carcinoma and Invasive Lobular Carcinoma

An invasive ductal breast carcinoma associated with an invasive lobular carcinomatous component.


Multicentric Breast Carcinoma

A breast carcinoma characterized by the presence of multiple cancerous tumors that originate from different clones and are usually located in different quadrants of the breast.


Breast Cancer by AJCC v8 Prognostic Stage

A term that refers to the staging of breast cancer, following the rules of the TNM AJCC v8 classification system. This staging system should be used in countries where HER2, ER, and PR biomarker tests are routinely performed for patient care (U.S., Canada, etc.). (from AJCC 8th Ed.)


Stage IIIB Breast Carcinoma

Stage IIIB includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0).  T4: Tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or skin nodules).  N0: No regional lymph node metastasis.  N1: Metastasis to movable ipsilateral level I, II axillary lymph node(s).  N2: Metastases in ipsilateral level I, II axillary lymph nodes that are clinically fixed or matted; or in clinically detected ipsilateral internal mammary nodes in the absence of clinically evident axillary lymph node metastases.  M0: No clinical or radiographic evidence of distant metastasis.  M0 includes M0(i+).  (AJCC 7th Ed.)


Locally Advanced HER2-Negative Breast Carcinoma

HER2-negative breast adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Prognostic Stage IIB Breast Cancer AJCC v8

Stage IIB includes: (T0-1, N1, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T2, N0, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T2, N0, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T2, N0, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T2, N1, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (T2, N1, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-2, N2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T0-2, N2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)


Invasive Male Breast Carcinoma

A rare invasive carcinoma that arises from the male breast. Morphologically, it is similar to the invasive carcinomas that arise from the female breast. It usually develops in the retroareolar region.


Anatomic Stage II Breast Cancer AJCC v8

Stage II includes: IIA: (T0, N1, M0); (T1, N1, M0); (T2, N0, M0); IIB: (T2, N1, M0); (T3, N0, M0). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)


Low Grade Breast Adenosquamous Carcinoma

A low grade metaplastic carcinoma of the breast with morphologic features similar to the adenosquamous carcinoma of the skin.  In the majority of cases the prognosis is excellent.


Refractory Triple-Negative Breast Carcinoma

Triple-negative breast carcinoma that is resistant to treatment.


Noninfiltrating intraductal papillary adenocarcinoma (morphologic abnormality)

Breast ductal carcinoma in situ characterized by the presence of filiform arborizing fibrovascular cores lined by neoplastic ductal epithelium. (WHO 2019)


HER2-Low Breast Carcinoma

Breast adenocarcinoma defined by low expression of HER2 (IHC1+ or IHC2+; FISH negative).


Metastatic Breast Signet Ring Cell Carcinoma

A signet ring cell carcinoma that arises from the breast and has metastasized to other anatomic sites.


Breast adenocarcinoma metastatic

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


Stage II Breast Cancer AJCC v6 and v7

Stage II includes: IIA: (T0, N1, M0); (T1, N1, M0); (T2, N0, M0) and IIB: (T2, N1, M0); (T3, N0, M0).  T0: No evidence of primary tumor.  T1: Tumor 2.0 cm or less in greatest dimension.  T1 includes T1mi. T1mi: Tumor 1 mm or less in greatest dimension. T2: Tumor more than 2.0 cm but not more than 5.0 cm in greatest dimension.  T3: Tumor more than 5.0 cm in greatest dimension.  N1: Metastasis to movable ipsilateral axillary lymph node(s).  M0: No distant metastasis.  (AJCC 6th and 7th Eds.)


Inflammatory carcinoma of breast recurrent

The reemergence of inflammatory carcinoma of the breast after a period of remission


Breast Carcinoma with Choriocarcinomatous Features

An invasive ductal breast carcinoma, not otherwise specified, characterized by increased levels of human beta-chorionic gonadotropin in the serum.  Morphologic evidence of choriocarcinomatous differentiation is rare.


Prognostic Stage II Breast Cancer AJCC v8

Stage II includes: IIA: (T1, N0, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T1, N0, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T1, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T1, N0, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T1, N0, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1mi, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1mi, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1mi, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1mi, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1mi, M0, G3, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G1-2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T0-1, N1, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T2, N0, M0, G1, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G1-2, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T2, N0, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T2, N0, M0, G3, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T0-2, N2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G1, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); IIB: (T0-1, N1, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T0-1, N1, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-1, N1, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T0-1, N1, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T2, N0, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Negative); (T2, N0, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G2, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T2, N0, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Negative); (T2, N0, M0, G3, HER2 Status: Positive, ER Status: Negative, PR Status: Any); (T2, N1, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (T2, N1, M0, G1, HER2 Status: Negative, ER Status: Negative, PR Status: Positive); (T0-2, N2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T0-2, N2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T3, N1-2, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Positive). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. T3: Tumor measuring more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N1mi: Micrometastases (approximately 200 cells, larger than 0.2 mm, but none larger than 2.0 mm). N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)


Carcinoma in situ of female breast

A proliferation of atypical neoplastic epithelial cells confined to the mammary ducts of the female breast.


Recurrent Breast Angiosarcoma

The reemergence of breast angiosarcoma after a period of remission.


Anatomic Stage IIA Breast Cancer AJCC v8

Stage IIA includes: (T0, N1, M0); (T1, N1, M0); (T2, N0, M0). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)


Malignant neoplasm of nipple of female breast

A malignant neoplasm that affects the area of the nipple in females.


Paget's disease and infiltrating duct carcinoma of breast

Paget disease involving the skin overlying the mammary gland, accompanied by invasive ductal breast carcinoma.


Anatomic Stage IA Breast Cancer AJCC v8

Stage IA includes: T1, N0, M0. T1: Tumor measuring 20 mm or less in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)


Invasive Breast Lobular Carcinoma, Tubulolobular Variant

An invasive lobular carcinoma of the breast, characterized by the presence of neoplastic cells forming small tubular structures.


Hormone Receptor-Negative Breast Carcinoma

Breast adenocarcinoma that is negative for hormone receptors.


Breast sarcoma recurrent

The reemergence of breast sarcoma after a period of remission.


Breast Carcinoma with Osseous Metaplasia

An invasive breast carcinoma showing differentiation towards bone structures.


Breast Polymorphous Adenocarcinoma

A rare, low grade malignant epithelial neoplasm arising from the breast. It is characterized by the presence of uniform, small to medium size malignant epithelial cells and an infiltrating pattern.


Stage III Breast Cancer AJCC v7

Stage III includes: IIIA : (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N1, M0); (T3, N2, M0), IIIB: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0), and IIIC: (any T, N3, M0).  T4: Tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or skin nodules).  N2: Metastases in ipsilateral level I, II axillary lymph nodes that are clinically fixed or matted; or in clinically detected ipsilateral internal mammary nodes in the absence of clinically evident axillary lymph node metastases.  N3: Metastases in ipsilateral infraclavicular (level III) axillary lymph nodes(s) with or without level I, II axillary lymph node involvement; or in clinically detected ipsilateral internal mammary lymph node(s) with clinically evident level I, II axillary lymph node metastases; or metastases in ipsilateral supraclavicular lymph node(s) with or without axillary or internal mammary lymph node involvement.  M0: No clinical or radiographic evidence of distant metastasis.  M0 includes M0(i+).  (AJCC 7th Ed.)


BRCA-Associated Breast Carcinoma

Breast carcinoma caused by deleterious germline mutation in a gene of the BRCA family.


Unresectable Hormone Receptor-Positive Breast Carcinoma

Hormone receptor-positive breast carcinoma that is not amenable to surgical resection.


Invasive Breast Carcinoma of No Special Type with Predominant Intraductal Component

An invasive breast carcinoma of no special type characterized by the presence of a predominant ductal carcinoma in situ component and a minor component of invasive carcinoma.


Prognostic Stage IA Breast Cancer AJCC v8

Stage IA includes: (T1, N0, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (T1, N0, M0, G1-2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T1, N0, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T1, N0, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Any); (T0-1, N1mi, M0, G1, HER2 Status: Positive, ER Status: Any, PR Status: Any); (T0-1, N1mi, M0, G1-2, HER2 Status: Negative, ER Status: Positive, PR Status: Positive); (T0-1, N1mi, M0, G2, HER2 Status: Positive, ER Status: Positive, PR Status: Positive); (T0-1, N1mi, M0, G3, HER2 Status: Positive, ER Status: Positive, PR Status: Any); (MultiGene Panel-Oncotype Dx Recurrence Score Less Than 11, T1-2, N0, M0, G1-3, HER2 Status: Negative, ER Status: Positive, PR Status: Any). T0: No evidence of primary tumor. T1: Tumor measuring 20 mm or less in greatest dimension. T2: Tumor measuring more than 20 mm, but not more than 50 mm in greatest dimension. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1mi: Micrometastases (approximately 200 cells, larger than 0.2 mm, but none larger than 2.0 mm). G1: Low combined histologic grade (favorable); SBR score of 3-5 points. G2: Intermediate combined histologic grade (moderately favorable); SBR score: 6-7 points. G3: High combined histologic grade (unfavorable); SBR score of 8-9 points. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)


Pleomorphic lobular carcinoma in situ of breast

Breast lobular carcinoma in situ characterized by the presence of neoplastic large cells with marked nuclear pleomorphism.


Invasive micropapillary carcinoma of breast

An invasive breast carcinoma characterized by the presence of clusters of malignant cells located within artifactual clear stromal spaces that resemble vascular spaces.


Anatomic Stage IIIB Breast Cancer AJCC v8

Stage IIIB includes: (T4, N0, M0); (T4, N1, M0); (T4, N2, M0). T4: Tumor of any size with direct extension to the chest wall and/or to the skin (ulceration or macroscopic nodules); invasion of the dermis alone does not qualify as T4. N0: No regional lymph node metastasis is identified or isolated tumor cell clusters (ITCs) are identified only. N1: Tumor with micrometastases; or metastases in 1-3 axillary lymph nodes; and/or clinically negative internal mammary nodes with micrometastases or macrometastases by sentinel lymph node biopsy. N2: Tumor with metastases in 4-9 axillary lymph nodes; or positive ipsilateral internal mammary lymph nodes by imaging in the absence of axillary lymph node metastases. M0: No clinical or radiographic evidence of distant metastases. Imaging studies are not required to assign the M0 category. (AJCC 8th ed.)


Unilateral Breast Carcinoma

Breast carcinoma of one breast, or one side of the breast.


Carcinoma in situ of male breast

A proliferation of atypical neoplastic epithelial cells confined to the mammary ducts of the male breast. It includes the entire spectrum of carcinoma in situ observed in the female breast. It usually develops in the retroareolar region.


Paget's disease and intraductal carcinoma of breast

Paget disease of the breast associated with the presence of a usually high grade ductal carcinoma in situ in the lactiferous glands.


Stage III Breast Cancer AJCC v6

Stage III is divided into two stages IIIA and IIIB.  Stage IIIA includes: (T0, N2, M0); (T1, N2, M0); (T2, N2, M0); (T3, N1, M0); (T3, N2, M0).  Stage IIIB includes: (T4, any N, M0).  T4: Tumor of any size with direct extension to (a) chest wall or (b) skin.  N2: Metastases in ipsilateral axillary lymph nodes fixed or matted, or in clinically apparent ipsilateral internal mammary nodes in the absence of clinically evident axillary lymph node metastasis.  N3: Metastasis in ipsilateral infraclavicular lymph nodes(s) with or without axillary lymph node involvement, or in clinically apparent ipsilateral internal mammary lymph node(s); and in the presence of clinically evident axillary lymph node metastasis or metastasis in ipsilateral supraclavicular lymph node(s) with or without axillary or internal mammary lymph node involvement.  M0: No distant metastasis.  (AJCC 6th Ed.)


Metastatic Breast Lobular Carcinoma

A lobular breast carcinoma that has spread from the original site of growth to another anatomic site.


Refractory Breast Adenocarcinoma

Breast adenocarcinoma that does not respond to treatment.


Invasive Breast Carcinoma by Histologic Grade


Unresectable Breast Carcinoma

Breast carcinoma that is not amenable to surgical resection.


Recurrent HER2-Negative Breast Carcinoma

The reemergence of HER2-negative breast adenocarcinoma after a period of remission.


Breast adenocarcinoma recurrent

The reemergence of breast adenocarcinoma after a period of remission.


PALB2-Associated Breast Carcinoma

Breast carcinoma caused by deleterious germline mutation in the PALB2 gene.


Recurrent Invasive Breast Carcinoma of No Special Type

The reemergence of invasive breast carcinoma of no special type after a period of remission.


Metastatic Breast Carcinoma

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


Refractory Breast Lymphoma

Breast lymphoma that is resistant to treatment.


Malignant nipple neoplasm

A malignant neoplasm that affects the area of the nipple.


Breast Ductal Carcinoma In Situ, Comedo Type

Breast ductal carcinoma in situ characterized by the presence of sheets of tumor cells with evidence of central necrosis and associated karyorrhectic/nuclear debris.


Occult Breast Carcinoma

Breast carcinoma presenting with isolated axillary lymphadenopathy, without clinical or mammographic evidence of breast tumor.