Complete neonatal hearing loss

Complete loss of the ability to detect or understand sounds present in an infant within its first month after birth.


Neonatal hearing loss

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

Partial or complete loss of the ability to detect or understand sounds present in an infant within its first month after birth.


autosomal recessive nonsyndromic hearing loss 1A

An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.


central hearing loss

Hearing loss resulting from disorders of the central nervous system auditory pathways.


autosomal recessive nonsyndromic hearing loss 49

An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.


autosomal dominant nonsyndromic hearing loss 36

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.


Hearing Loss, Functional

Hearing loss in the absence of auditory system pathology.


autosomal recessive nonsyndromic hearing loss 36

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.


autosomal recessive nonsyndromic hearing loss 28

An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.


Partial neonatal hearing loss

Partial loss of the ability to detect or understand sounds present in an infant within its first month after birth.


autosomal recessive nonsyndromic hearing loss 39

An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.


noise induced hearing loss

A condition in which a person loses the ability to hear due to exposure to high intensity sound.


autosomal dominant nonsyndromic hearing loss 41

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.


hearing loss, X-linked 4

Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene.


X-linked hereditary sensory and autonomic neuropathy with hearing loss

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.


Sensory hearing loss

Hearing loss caused by damage to the cochlea in the inner ear.


severe intellectual disability-progressive spastic diplegia syndrome

Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.


hand dermatosis

Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual.


pyromania

A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.


arthus reaction

A localized vasculitis resulting from deposition of antibody-antigen complexes.


amyloid-beta precursor protein O-glycosylated 6 (human)

An amyloid-beta precursor protein (human) that has been O-glycosylated at the residue equivalent to Thr-367 of the amino acid sequence represented by UniProtKB:P05067-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05067-1, Thr-367, MOD:00005~GNO:G43417UB.


Grade 1 Intraoperative Venous Injury, CTCAE

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

Primary repair of injured organ/structure indicated


Intraoperative Venous Injury, CTCAE

A finding of damage to a vein during a surgical procedure.


Grade 2 Intraoperative Venous Injury, CTCAE

Partial resection of injured organ/structure indicated


Grade 4 Intraoperative Venous Injury, CTCAE

Life-threatening consequences; urgent intervention indicated


Grade 3 Intraoperative Venous Injury, CTCAE

Complete resection or reconstruction of injured organ/structure indicated; limiting self care ADL


Grade 5 Intraoperative Venous Injury, CTCAE

Death


Grade 1 Genitourinary Stoma Prolapse, CTCAE


Testicular Mixed Choriocarcinoma and Teratoma

A malignant mixed germ cell tumor arising from the testis.  It is characterized by the presence of a teratomatous component and malignant syncytiotrophoblastic cells.


eyelid degenerative disorder

A neurodegenerative disease that involves the eyelid.


hyperphosphatasia with intellectual disability syndrome 2

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.


potassium voltage-gated channel subfamily D member 3 isoform 2 (human)

A voltage-gated potassium channel KCND3 isoform 2 that is encoded in the genome of human.


potassium voltage-gated channel subfamily D member 3 isoform 2 (mouse)

A voltage-gated potassium channel KCND3 isoform 2 that is encoded in the genome of mouse.


External Prosthetic Device Pain

Pain that is associated with an external artificial replacement device.


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


benign neoplasm of endometrium

A benign neoplasm that involves the endometrium.


Malignant nasopharyngeal neoplasm recurrent

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


superoxide dismutase [Mn], mitochondrial, transit peptide removed form (human)

A superoxide dismutase [Mn], mitochondrial (human) that has had the transit peptide removed. UniProtKB:P04179, 25-222.


Lymphoma of kidney

A lymphoma that arises from the kidney. There is no evidence of a systemic lymphoproliferative disorder.


Peritoneal Histiocytic Nodule

A nodule in the peritoneum composed of benign histiocytes.


cholane derivative

Any steroid (or derivative) based on a cholane skeleton.


A steroid compound with a structure based on a 24-carbon (cholane) skeleton.


interleukin-1 alpha isoform 1 myristoylated 2 (human)

An interleukin-1 alpha isoform 1 myristoylated 2 in human. UniProtKB:P01583-1, Lys-82, MOD:00087.


interleukin-1 alpha isoform 1 myristoylated 1 (human)

An interleukin-1 alpha isoform 1 myristoylated 1 in human. UniProtKB:P01583-1, Lys-83, MOD:00087.


interleukin-1 alpha isoform 1 (human)

An interleukin-1 alpha isoform 1 that is encoded in the genome of human.


interleukin-1 alpha isoform 1 cleaved 1 (human)

An interleukin-1 alpha isoform 1 cleaved 1 in human. UniProtKB:P01583-1, 113-271.


follicular dendritic cell sarcoma of mediastinum

A rare follicular dendritic cell sarcoma that affects the structures of the mediastinum.


streptococcus pneumoniae discitis

Discitis caused by infection with Streptococcus pneumoniae.


vitamin K-dependent gamma-carboxylase isoform 1 (human)

A vitamin K-dependent gamma-carboxylase isoform 1 that is encoded in the genome of human.


atrial septal defect 9

Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.


Ewing sarcoma of bone

A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor.


acute hypotension

Acute form of hypotension (disease).


Pancreatic Mucinous-Cystic Neoplasm, High Grade

A non-invasive mucinous cystic neoplasm that arises from the pancreas and is characterized by the presence of severe dysplasia.  The neoplastic columnar mucin-producing epithelial cells form papillae with irregular branching and budding.  There is nuclear stratification, prominent nucleoli, and cellular pleomorphism.  Mitotic activity is present and the mitoses may be atypical.


Parenteral Nutrition - Associated Cholestasis

Cholestasis that results from prolonged total parenteral nutrition. It is caused by diminished bile flow from the liver into the duodenum. It may result in cirrhosis and liver failure. Preterm infants are most susceptible to liver damage.


Recurrent Intrahepatic Cholestasis

Reappearance of cholestasis caused by obstruction within the liver.


Genital rhabdomyoma

A rare benign skeletal muscle neoplasm arising from the female genital tract. It is characterized by the presence of small nucleated rhabdomyoblasts within a fibrous and myxoid stroma.


Benign Skeletal Muscle Neoplasm

A benign mesenchymal neoplasm arising from skeletal muscle tissue.


Extracardiac Rhabdomyoma

A benign mesenchymal neoplasm that shows mature skeletal muscle differentiation.


Central Nervous System Rhabdomyoma

A benign mesenchymal neoplasm arising from the central nervous system.  It consists of mature skeletal muscle tissue.


Intermediate Rhabdomyoma

A morphologic variant of fetal rhabdomyoma characterized by the presence of spindle cell myoblasts and strap-like skeletal muscle cells.


Vulvar Rhabdomyoma

A rare benign polypoid skeletal muscle neoplasm arising from the vulva. It is characterized by the presence of round striated muscle cells and strap-like skeletal muscle cells, and vascular space formations within a fibrous and myxoid stroma.


Fetal rhabdomyoma

A rare benign mesenchymal neoplasm arising from skeletal muscle. It is characterized by the presence of immature spindle and polygonal cells within a scant myxoid stroma. It usually develops in the head and neck region of young children.


Paratesticular Rhabdomyoma

A rhabdomyoma that arises from the paratesticular region.


Vaginal Rhabdomyoma

A rare benign polypoid skeletal muscle neoplasm arising from the vagina.  It is characterized by the presence of round striated muscle cells and strap-like skeletal muscle cells, and vascular space formations within a fibrous and myxoid stroma.


Adult Extracardiac Rhabdomyoma

A benign mesenchymal neoplasm arising from skeletal muscle and occurring in adults.


Classic Rhabdomyoma

A morphologic variant of fetal rhabdomyoma characterized by the presence of a prominent myxoid stroma and primitive skeletal spindle cells.


Mediastinal Rhabdomyoma

A rare benign skeletal muscle neoplasm arising from the mediastinum.


Grade 4 Intraoperative Musculoskeletal Injury, CTCAE

Life-threatening consequences; urgent intervention indicated


atrial septal defect 7

Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.


mesenteric lymphadenitis

Inflammation of the mesenteric lymph nodes.


amyloidosis, primary localized cutaneous, 1

Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene.


familial primary localized cutaneous amyloidosis


amyloidosis, primary localized cutaneous, 3


amyloidosis, primary localized cutaneous, 2


trihydroxyflavanone

A hydroxyflavanone carrying three hydroxy substituents.


Stage IB Fallopian Tube Cancer AJCC v6 and v7

Stage IB includes: T1b, N0, M0.  T1b: Tumor limited to both tubes, without penetrating the serosal surface; no ascites.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Grade 1 Subcutaneous Emphysema, CTCAE

Asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated


Subcutaneous Emphysema, CTCAE

A disorder characterized by air in the subcutaneous tissue.


Grade 2 Subcutaneous Emphysema, CTCAE

Moderate; minimal, local or noninvasive intervention indicated


Grade 3 Subcutaneous Emphysema, CTCAE

Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of existing hospitalization indicated; limiting self care ADL


Expanding aneurysm

Expansion of aneurysm.


Grade 3 Vaginal Pain, CTCAE

Severe pain; limiting self care ADL


Vaginal Pain, CTCAE 5.0

A disorder characterized by a sensation of marked discomfort in the vagina.


Grade 2 Vaginal Pain, CTCAE

Moderate pain; limiting instrumental ADL


Grade 1 Vaginal Pain, CTCAE

Mild pain


Grade 1 Abdominal Distension or Bloating, CTCAE


lutropin-choriogonadotropic hormone receptor isoform Long (human)

A lutropin-choriogonadotropic hormone receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22888-1.


follicular atrophoderma-basal cell carcinoma


BMP receptor type-1B isoform 1 phosphorylated 1 (human)

A BMP receptor type-1B isoform 1 phosphorylated 1 in human.


Metastatic Malignant Abdominal Neoplasm

A malignant neoplasm that arises from the abdomen and has spread from its original site of growth to another anatomic site.


Advanced Malignant Abdominal Neoplasm

A malignant neoplasm that arises from the abdomen and has spread extensively to other anatomic sites or is no longer responding to treatment.


sick sinus syndrome 2, autosomal dominant

Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.


20q11.2 microduplication syndrome

20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features.


potassium-transporting ATPase alpha chain 1, initiator methionine removed form (human)

A potassium-transporting ATPase alpha chain 1 (human) that has had the initiator methionine removed. UniProtKB:P20648, 2-1035.


brachydactyly type E2

Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.


immunodeficiency 32B

A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.


organosulfonic ester

An ester resulting from the formal condensation of the hydroxy group of an alcohol, phenol, heteroarenol, or enol with an organosulfonic acid.


methanesulfonate ester

An organosulfonic ester resulting from the formal condensation of methanesulfonic acid with the hydroxy group of an alcohol, phenol, heteroarenol, or enol.


arenesulfonate ester

An organosulfonic ester resulting from the formal condensation of an arenesulfonic acid with the hydroxy group of an alcohol, enol, phenol or heteroarenol.


congenital narrowing of cervical spinal canal

Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances.


atrial natriuretic peptide receptor 2 isoform Long (human)

An atrial natriuretic peptide receptor 2 isoform 1 that is encoded in the genome of human.


Vas deferens perforation

A rupture in the wall of the vas deferens.


phosphoserine aminotransferase isoform 1 (human)

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


Retinoblastoma, diffuse

A retinoblastoma characterized by the absence of a distinct retinal mass and the presence of malignant cells diffusely infiltrating the retina. It is often confused with uveitis and endophthalmitis, resulting in delayed diagnosis of the malignancy.


5-hydroxytryptamine receptor 3B isoform h2 (human)

A 5-hydroxytryptamine receptor 3B (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:O95264-2.


5-hydroxytryptamine receptor 3B

A 5-HT3 receptor protein that is a translation product of the human HTR3B gene or a 1:1 ortholog thereof.


5-hydroxytryptamine receptor 3B, signal peptide removed form (human)

A 5-hydroxytryptamine receptor 3B (human) that has had the signal peptide removed. UniProtKB:O95264, 22-441.


5-hydroxytryptamine receptor 3B isoform h1 (human)

A 5-hydroxytryptamine receptor 3B (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:O95264-1.


mesocestoidiasis

An disease or disorder caused by infection with Mesocestoides.


Refractory Vaginal Squamous Cell Carcinoma

Vaginal squamous cell carcinoma that is resistant to treatment.


dual specificity protein kinase TTK isoform h1 (human)

A dual specificity protein kinase TTK (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:P33981-1.


dual specificity protein kinase TTK

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


TTK activation loop and P+1 loop phosphorylated form (human)

A dual specificity protein kinase TTK (human) that has been phosphorylated on one of three sites within the activation loop and on a Thr residue in the P+1 loop. Example: UniProtKB:P33981-1, (Thr-675, MOD:00047 or Thr-676, MOD:00047 or Ser-677, MOD:00046)|Thr-686, MOD:00047.


TTK activation loop-phosphorylated form (human)

A dual specificity protein kinase TTK (human) that has been phosphorylated on one of three sites within the activation loop, at positions equivalent to Thr-675 or Thr-676 or Ser-677 of the amino acid sequence represented by UniProtKB:P33981-1. Example: UniProtKB:P33981-1, (Thr-675, MOD:00047 or Thr-676, MOD:00047)|Ser-677, MOD:00046.


dual specificity protein kinase TTK isoform h2 (human)

A dual specificity protein kinase TTK (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:P33981-2.


dual specificity protein kinase TTK phosphorylated 1 (human)

A dual specificity protein kinase TTK (human) that has been phosphorylated on the residue at the position equivalent to Thr-676 of the amino acid sequence represented by UniProtKB:P33981-1. Example: UniProtKB:P33981-1, Thr-676, MOD:00047.


fibrous meningioma

A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix.


Larsen-like syndrome, B3GAT3 type

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.


primary ciliary dyskinesia 13

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.


2:1 Atrioventricular Block by ECG Finding

An electrocardiographic finding of a supraventricular rhythm where the ratio of impulses generated above the atrioventricular node to the number of impulses conducted through to the ventricles is 2:1. This is manifested on the ECG as 2 P waves per QRS complex. (CDISC)


[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial

A protein that is a translation product of the human PDK3 gene or a 1:1 ortholog thereof.


[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial isoform h1 (human)

A [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q15120-1.


[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial isoform 2 (human)

A [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial isoform 2 that is encoded in the genome of human.


Myeloblasts 5-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5-19 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


Myeloblasts 10-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a peripheral blood sample are immature mononuclear cells of myeloid origin.


Factor V Inactivation

Presence of inactivating antibodies to factor V in the blood.


acquired factor V deficiency

An acquired coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.


Gallbladder Adenoma, Intestinal-Type

An adenoma that arises from the gallbladder and is associated with intestinal-type differentiation.


neoplastic polyp

A term that includes all polypoid growth from the inner lining of the mucous membrane.


Cervical Microglandular Polyp

A benign endocervical polypoid epithelial hyperplasia characterized by the presence of tightly packed glandular structures. It is usually seen in women on oral contraceptive therapy and during pregnancy.


tubular adenoma of stomach

An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a tubular architectural pattern.


Precancerous Polyp

A polyp with severe dysplastic features.


villous adenoma of stomach

An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a villous architectural pattern.


adenomatous polyp of stomach

A neoplastic polyp that arises from the stomach. It is associated with intestinal-type differentiation. The presence of high grade dysplasia and a size of more than 2 cm are factors that increase the risk of malignant transformation.


Ampulla of Vater Tubular Adenoma

An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of tubular epithelial structures and it is associated with dysplasia.


polyp of middle ear

A benign polypoid growth in the middle ear.


Ampulla of Vater Villous Adenoma

An intestinal-type adenoma arising from the ampulla of Vater.  It is characterized by the presence of villous epithelial structures and it is associated with dysplasia.


Adenomatous Polyps

A polypoid neoplasm arising from the glandular epithelium of the gastrointestinal tract. There is proliferation of glandular cells which may display dysplastic cytologic features. Representative examples include the adenomatous polyps of the colon and rectum..


Endocervical polyp

A polyp that arises from the endocervix. It is characterized by the presence of endocervical glands and a fibrovascular stroma.


Fallopian Tube Endometrioid Polyp

An adenomatous polyp that arises from the interstitial portion of the fallopian tube and is characterized by the presence of endometrial epithelium.  It may obstruct the lumen of the fallopian tube and result in infertility or tubal pregnancy.


Colorectal Adenomatous Polyp

A polypoid adenoma that arises from and protrudes into the lumen of the colon or rectum.  Epithelial dysplasia is always present.  According to the architectural pattern it is classified as tubular, tubulovillous, or villous.


Adenoma of ampulla of Vater

An adenoma that arises from the ampulla of Vater and resembles the adenomas of the small and large intestines.  Morphologically, according to the growth pattern, it may be classified as tubular, tubulovillous, or villous.  Dysplasia is always present.  Jaundice may be an early symptom.


Adenomatous polyp of rectum

A polypoid adenoma that arises from and protrudes into the lumen of the rectum.  Epithelial dysplasia is always present.  According to the architectural pattern it is classified as tubular, tubulovillous, or villous.


polyposis

A condition characterized by the presence of numerous polyps.


Intestinal-type adenoma

An adenoma that arises from the glandular epithelium of the gastrointestinal tract and is associated with intestinal-type differentiation.


tubulovillous adenoma of stomach

An intestinal-type adenoma that arises from the stomach. It is characterized by the presence of a tubulovillous architectural pattern.


polyp of external auditory canal

A polyp that involves the external acoustic meatus.


Eosinophilic granulomatous polyp

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


tubulopapillary adenoma of gallbladder

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


myxoid/round cell liposarcoma

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


ovarian myxoid liposarcoma

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


round cell liposarcoma

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


Vaginal Cancer by AJCC v8 Stage

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


Stage III Vaginal Cancer AJCC v8

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


Stage IV Vaginal Cancer AJCC v8

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


Stage II Vaginal Cancer AJCC v8

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


Stage IIA Vaginal Cancer AJCC v8

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


Stage IIB Vaginal Cancer AJCC v8

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


Stage IVB Vaginal Cancer AJCC v8

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


von Willebrand factor N-glycosylated 32 (human)

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


calcitonin receptor isoform h1 (human)

A calcitonin receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P30988-2.


calcitonin receptor protein

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


calcitonin receptor

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


calcitonin gene-related peptide type 1 receptor

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


calcitonin receptor isoform h6 (human)

A calcitonin receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P30988-6.


calcitonin receptor isoform h5 (human)

A calcitonin receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P30988-5.


calcitonin receptor isoform h4 (human)

A calcitonin receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P30988-4.


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

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


calcitonin receptor isoform h2 (human)

A calcitonin receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P30988-1.


calcitonin receptor isoform h3 (human)

A calcitonin receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P30988-3.


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

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


Pyridoxamine phosphate

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


Pyridoxamine

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


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

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


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

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


Decreased Corpora Lutea

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


Prostate Stromal Proliferation of Uncertain Malignant Potential

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


Grade 5 Appendicitis Perforated, CTCAE

Death


tibial muscular dystrophy

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


Meyerson Nevus

A benign melanocytic nevus surrounded by eczematous changes.


Metastatic malignant neoplasm to supraclavicular lymph nodes

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


Metastatic Malignant Neoplasm in the Regional Lymph Nodes

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


Breast Carcinoma Metastatic in the Lymph Nodes

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


Metastatic malignant neoplasm to mediastinal lymph nodes

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


Prostate Carcinoma Metastatic in the Lymph Nodes

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


Metastatic Squamous Cell Carcinoma in the Cervical Lymph Nodes

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


Dextro-Transposition of the Great Vessels with Intact Ventricular Septum

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


death-associated protein kinase

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


death-associated protein kinase 2 isoform 1 (human)

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


death-associated protein kinase 3 isoform h2 (human)

A death-associated protein kinase 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O43293-2.


death-associated protein kinase 3

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


death-associated protein kinase 3 isoform 1 (human)

A death-associated protein kinase 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O43293-1.


death-associated protein kinase 2

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


death-associated protein kinase 1 isoform h2 (human)

A death-associated protein kinase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P53355-2.


death-associated protein kinase 1 isoform h4 (human)

A death-associated protein kinase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P53355-4.


death-associated protein kinase 1 phosphorylated 1 (human)

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


death-associated protein kinase 2 isoform h2 (human)

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


death-associated protein kinase 1 isoform h3 (human)

A death-associated protein kinase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P53355-3.


death-associated protein kinase 1 isoform 1 (human)

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


death-associated protein kinase 1

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


death-associated protein kinase 3 phosphorylated 1 (human)

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


Grade 3 Neck Soft Tissue Necrosis, CTCAE

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


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


Central Nervous System Teratoma with Malignant Transformation

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


Sellar Teratoma with Malignant Transformation

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


HIV wasting syndrome

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


Stage IA1 Cervical Cancer

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


Stage IA Cervical Cancer AJCC v6 and v7

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


Stage IA2 Cervical Cancer

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


Machado-Joseph disease type 2

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


Machado-Joseph disease

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


Machado-Joseph disease type 4

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


Machado-Joseph disease type 3

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


Machado-Joseph disease type 5

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


Machado-Joseph disease type 1

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


DNA polymerase eta

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


DNA polymerase eta isoform 1 (human)

A DNA polymerase eta (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y253-1.


DNA polymerase eta isoform h2 (human)

A DNA polymerase eta (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9Y253-2.


DNA polymerase eta ubiquitinated 1 (human)

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


Steroid Resistant Gastrointestinal Tract Acute Graft Versus Host Disease

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


Grade 1 Respiratory Tract Hemorrhage NOS, CTCAE


ephrin type-A receptor 1 isoform h2 (human)

An ephrin type-A receptor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P21709-2.


ephrin type-A receptor 1 isoform h1 (human)

An ephrin type-A receptor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P21709-1.


ephrin type-A receptor 1 isoform h3 (human)

An ephrin type-A receptor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P21709-3.


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

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


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

A high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O76083-2.


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

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


parotid disorder

A disease involving the parotid gland.


parotid gland neoplasm

A neoplasm (disease) that involves the parotid gland.


benign neoplasm of parotid gland

A benign neoplasm that involves the parotid gland.


Shock From Lead

Unintended electric shock from patient leads.


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

A voltage-dependent L-type calcium channel subunit alpha-1C (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13936-5.


ectopic Cushing syndrome

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


ACTH-independent adrenal Cushing syndrome, somatic


ACTH-independent macronodular adrenal hyperplasia 1


Cushing syndrome due to macronodular adrenal hyperplasia

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


ACTH-independent macronodular adrenal hyperplasia 2

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


ACTH-dependent Cushing syndrome

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


ACTH-independent Cushing syndrome

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


von Willebrand factor N-glycosylated 9 (human)

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


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

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


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

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


calcium-activated calmodulin-binding potassium channel alpha subunit

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


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

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


small conductance calcium-activated potassium channel protein 1

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


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

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


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

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


small conductance calcium-activated potassium channel protein 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.


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

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, 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.


Fetal acidosis

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


Renal Tubular Acidosis Associated With Deafness

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


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 characterised 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 characterised 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 disc 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.


dopamine beta-hydroxylase deficiency

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.


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 characterised 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.