syndromic X-linked intellectual disability 5

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.


Parana hard-skin syndrome

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

A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.


tempi syndrome

TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting.


Fanconi anemia complementation group D2

Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.


Griscelli syndrome type 2

Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.


Opitz G/BBB syndrome

Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS).


Myhre syndrome

Myhre syndrome is characterized by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.


long QT syndrome 14

Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.


acrocephalosyndactyly

Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations.


X-linked lymphoproliferative syndrome

X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).


severe combined immunodeficiency due to CD70 deficiency

A rare primary immunodeficiency caused by homozygous CD70 mutation. It is characterized by susceptibility to Epstein-Barr virus infection, hypogammaglobulinemia, and development of B-cell non-Hodgkin lymphomas and Hodgkin lymphomas.


mitochondrial DNA depletion syndrome 4a

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.


proteasome-associated autoinflammatory syndrome 1

An autosomal recessive condition caused by mutation(s) in the PSMB8 gene, encoding proteasome subunit beta type-8. It is characterized by early onset annular erythematous plaques, partial lipodystrophy, and recurrent fever.


CODAS syndrome

Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.


DNA ligase IV deficiency

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).


congenital myasthenic syndrome 5

Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.


transient hypogammaglobulinemia

A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels.


Vertiginous syndrome

A group of disorders characterized by the sensation of constant motion or spinning despite not moving.


Sandifer syndrome

Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia.


thoracic outlet syndrome

A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip.


selective IgG immunodeficiency

A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.


epidermodysplasia verruciformis, susceptibility to, 4

An autosomal recessive condition caused by mutation(s) in the RHOH gene, encoding Rho-related GTP-binding protein RhoH. It presents in childhood and is characterized by defects in T-cell development and signaling leading to increased susceptibility to certain human papilloma viruses (HPV) that cause warty skin lesions that are unresponsive to treatment.


Fanconi anemia complementation group N

Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.


trichothiodystrophy

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulfur containing keratins).


selective IgG subclass deficiency

A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria.


Hermansky-Pudlak syndrome 2

A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.


leukocyte adhesion deficiency type II

Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.


chromosome 16p12.1 deletion syndrome, 520kb

A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.


cauda equina syndrome with neurogenic bladder

A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disk herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted.


classic dopamine transporter deficiency syndrome

Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay.


fetal hydantoin syndrome

Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.


trisomy X

Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).


Refractory Neurofibromatosis Type 1

Neurofibromatosis type 1 that is resistant to treatment.


Fanconi anemia complementation group I

Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.


IL21-related infantile inflammatory bowel disease

An autosomal recessive subtype of common variable immunodeficiency caused by mutation(s) in the IL21 gene, encoding interleukin-21.


Alport syndrome

A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.


orofaciodigital syndrome type 6

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.


complement component 3 deficiency

A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.


developmental defect during embryogenesis

A disease that has its basis in the disruption of embryonic morphogenesis.


MHC class I deficiency

Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections.


Williams syndrome

A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)


cerebrooculofacioskeletal syndrome 4

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.


Miller-Dieker lissencephaly syndrome

A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.


T-B+ severe combined immunodeficiency due to JAK3 deficiency

Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.


lymphoproliferative syndrome 1

A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..


complex regional pain syndrome type 1

Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb.


Ogden syndrome

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.


The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.


Gray syndrome from chloramphenicol administration in newborn

A disorder observed in a newborn who was exposed to chloramphenicol. Manifestations include hypotension, cyanosis, cardiovascular collapse and/or death.


congenital disorder of glycosylation

Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation.


A form of drug hypersensitivity syndrome caused by anti-convulsants.


immunodeficiency 104

A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.


Carney triad

Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.


mucopolysaccharidosis type 3B

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.


Denys-Drash syndrome

Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.


Hypomorphic RAG1 Deficiency

A condition of decreased or absent presence or activity of V(D)J recombination-activating protein 1. Deficiency of this protein is associated with Omenn syndrome, severe combined immunodeficiency, b cell-negative, combined cellular and humoral immune defects with granulomas, and alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity.


central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.


acrocallosal syndrome

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.


Muckle-Wells syndrome

An intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).


chromosome 8-derived supernumerary ring/marker

Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.


CLOVES syndrome

A syndromic disease characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.


Neonatal Graves' disease

Graves disease in the neonate resulting from transplacental passage of thyrotropin receptor antibody.


Astler-Coller C2 Rectal Carcinoma

Stage III includes: IIIA (T1-T2, N0, M0); IIIB (T3-T4, N1, M0); IIIC (Any T, N2, M0).  N1: Metastasis in 1 to 3 regional lymph nodes.  N2: Metastasis in 4 or more regional lymph nodes. (AJCC 6th ed.)


adult kidney Wilms tumor

Wilms tumor of the kidney which occurs in adults.


Sinonasal Mucosal Melanoma

Melanoma that arises from the mucosal surface of the nasal cavity and paranasal sinus.


Open fracture of shaft of metacarpal bone

A traumatic break in the diaphysis of the metacarpal bone that involves a break in the adjacent skin.


metaphyseal chondrodysplasia, Jansen type

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.


voltage-dependent L-type calcium channel subunit alpha-1C isoform h37 (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:Q13936-37.


titanium oxides

A class containing any titanium molecular entity that is an oxide of titanium.


titanium dioxide nanotube

A nanotube consisting of titanium dioxide.


titanium dioxide nanoparticle

A nanoparticle consisting of titanium dioxide.


Grade 1 Urethra Obstruction, CTCAE

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


glutamate receptor ionotropic, NMDA 2B N-glycosylated 9 (rat)

A glutamate receptor ionotropic, NMDA 2B (rat) that has been N-glycosylated at the residue equivalent to Asn-688 of the amino acid sequence represented by UniProtKB:Q00960-1, in which the glycan composition is represented by GlyTouCan:G62765YT. Example: UniProtKB:Q00960-1, Asn-688, MOD:00160~GNO:G62765YT.


leukotriene A-4 hydrolase isoform 1 (mouse)

A leukotriene A-4 hydrolase isoform 1 that is encoded in the genome of mouse.


serine/threonine-protein kinase 3

A protein that is a translation product of the human STK3 gene or a 1:1 ortholog thereof.


serine/threonine-protein kinase 3 isoform h1 (human)

A serine/threonine-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:Q13188-1.


serine/threonine-protein kinase 3 isoform m2 (mouse)

A serine/threonine-protein kinase 3 (mouse) 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:Q9JI10-2.


serine/threonine-protein kinase 3 36kDa subunit (human)

A serine/threonine-protein kinase 3 36kDa subunit in human. Example: UniProtKB:Q13188-1, 1-322, Thr-180, MOD:00047.


serine/threonine-protein kinase 3 phosphorylated 2 (human)

A serine/threonine-protein kinase 3 (human) that has been phosphorylated on the residue at the position equivalent to Thr-180 of the amino acid sequence represented by UniProtKB:Q13188. UniProtKB:Q13188, Thr-180, MOD:00047.


serine/threonine-protein kinase 3 isoform m1 (mouse)

A serine/threonine-protein kinase 3 (mouse) 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:Q9JI10-1.


serine/threonine-protein kinase 3 isoform h2 (human)

A serine/threonine-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:Q13188-2.


serine/threonine-protein kinase 3 phosphorylated 1 (human)

A serine/threonine-protein kinase 3 (human) that has been phosphorylated on the residue at the position equivalent to Tyr-81 of the amino acid sequence represented by UniProtKB:Q13188-1. Example: UniProtKB:Q13188-1, Tyr-81, MOD:00048.


myopathy, reducing body, X-linked, childhood-onset


myopathy, reducing body, X-linked, early-onset, severe


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


Placental Villous Fibrosis

Increased density of placental villous stroma, often with decreased capillarization compared to what would be expected for gestational age.


tissue-type plasminogen activator N-glycosylated 68 (human)

A tissue-type plasminogen activator (human) that has been N-glycosylated at the residue equivalent to Asn-219 of the amino acid sequence represented by UniProtKB:P00750-1, in which the glycan structure is represented by GlyTouCan:G91905FJ. Example: UniProtKB:P00750-1, Asn-219, MOD:00160~GNO:G91905FJ.


dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A

A protein that is a translation product of the human PDE1A gene or a 1:1 ortholog thereof.


dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h6 (human)

A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (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:P54750-6.


dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h3 (human)

A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (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:P54750-3.


dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h2 (human)

A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (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:P54750-2.


dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A, initiator methionine removed form (human)

A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (human) that has had the initiator methionine removed. UniProtKB:P54750, 2-535.


dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h7 (human)

A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (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:P54750-7.


dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h5 (human)

A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (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:P54750-5.


dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h1 (human)

A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (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:P54750-1.


dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h8 (human)

A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (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:P54750-8.


dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h9 (human)

A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (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:P54750-9.


dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A isoform h4 (human)

A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (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:P54750-4.


Grade 3 Colon Adenocarcinoma

A colon adenocarcinoma characterized by the presence of a malignant cellular infiltrate with less than 50% glandular formation.


Grade 3 Cytokine Release Syndrome, CTCAE

Hypotension managed with one pressor; hypoxia requiring >= 40% O2


dengue virus genome polyprotein

A protein that is a translation product of the dengue virus serotype 2 genomic RNA or a 1:1 ortholog thereof.


prM (Dengue virus 2 Thailand/16681/84)

A prM in Dengue virus 2 Thailand/16681/84. UniProtKB:P29990, 115-280, Asn-183, MOD:00160.


NS4A (Dengue virus 2 Thailand/16681/84)

An NS4A in Dengue virus 2 Thailand/16681/84. UniProtKB:P29990, 2094-2220.


NS4B (Dengue virus 2 Thailand/16681/84)

An NS4B in Dengue virus 2 Thailand/16681/84. UniProtKB:P29990, 2244-2491.


M protein (Dengue virus 2 Thailand/16681/84)

An M protein in Dengue virus 2 Thailand/16681/84. UniProtKB:P29990, 206-280.


NS2A (Dengue virus 2 Thailand/16681/84)

An NS2A in Dengue virus 2 Thailand/16681/84. UniProtKB:P29990, 1128-1345.


disorder of glutamate decarboxylase

A disease that has its basis in the disruption of glutamate decarboxylase activity.


Grade 1 Hepatic Vein Intra-Operative Injury, CTCAE


tendon sheath lipoma

A benign tumor, composed of mature adipocytes, that arises within the tendon sheath.


benign synovial neoplasm

A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.


tenosynovial giant cell tumor, localized type

A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site.


tenosynovial giant cell tumor, diffuse type

A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.


intestinal hypomagnesemia 1

Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.


(S)-Bopindolol

A 1-(tert-butylamino)-3-[(2-methyl-1H-indol-4-yl)oxy]propan-2-yl benzoate that has S-configuration.


Functioning Lung Carcinoid Tumor

A lung carcinoid tumor that is associated with carcinoid syndrome.


imidazobenzazepine

Any organic heterotricyclic compound that consists of an imidazole ring ortho-fused to a benzazepine.


Plegomazin

The hydrochloride salt of chlorpromazine.


2-Chloro-10-phenothiazinecarboxylic acid ethyl ester


dibenzooxazepine

An organic heterotricyclic compound consisting of two benzene rings fused to a seven-membered ring containing one oxygen and one nitrogen atom.


organic heterotricyclic compound

An organic tricyclic compound in which at least one of the rings of the tricyclic skeleton contains one or more heteroatoms.


A member of the class of phenothiazines that is 4aH-phenothiazine substituted by dimethylamino groups at positions 3 and 7.


Acridine orange

A member of the class of aminoacridines that is acridine carrying two dimethylamino substituents at positions 3 and 6. The hydrochloride salt is the fluorescent dye 'acridine orange', used for cell cycle determination.


(+)-Ethopropazine

The (R)-enantiomer of profenamine.


A phenothiazine derivative in which 10H-phenothiazine has an N-methylpiperidin-4-ylmethyl substituent at the N-10 position.


A member of the class of rifamycins that is obtained by formal N-hydroxylation at position 2' of rifampicin.


Iminostilbene

A mancude organic heterotricyclic parent that consists of a seven-membered nitrogen hetrocycle fused with two benzene rings.


Acridine yellow cation

The monoprotonated form of 2,7-dimethylacridine-3,6-diamine.


pyridoisoquinoline

An organic heterotricyclic compound with a skeleton derived from a pyridine ring fused to an isoquinoline.


The cationic form of 3,6-diamino-10-(3-carboxypropyl)acridine.


(S)-aceprometazine

The (S)-enantiomer of aceprometazine.


(S)-mosapramine

A 1'-[3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)propyl]hexahydro-2H-spiro[imidazo[1,2-a]pyridine-3,4'-piperidin]-2-one that has (S)-configuration.


Promazine 5-sulfoxide

A member of the class of  phenothiazines that is promazine carrying an oxo group at position 5. It is a metabolite of the anti-psychotic medication, chlorpromazine.


A member of the class of dibenzoazepines that is the amide formed from formal condensation of the carboxy group of 2,2-dimethyl-3-oxo-3-[(2,2,3,3,3-pentafluoropropyl)amino]propanoic acid with the amino group of (7S)-7-amino-5,7-dihydrodibenzo[b,d]azepin-6-one.


Win 55212-2

A organic heterotricyclic compound that is 5-methyl-3-(morpholin-4-ylmethyl)-2,3-dihydro[1,4]oxazino[2,3,4-hi]indole substituted at position 6 by a 1-naphthylcarbonyl group.


(R)-tianeptine

The R-enantiomer of tianeptine.


imidazobenzodiazepine

Any organic heterotricyclic compound that is any benzodiazepine which is ortho-fused with a imidazole.


psoralens

A furanocoumarin with a 7H-furo[3,2-g]chromen-7-one skeleton and its substituted derivatives thereof.


furanocoumarin

Any furochromene that consists of a furan ring fused with a coumarin. The fusion may occur in different ways in give several isomers.


O-(ADP-D-ribosyl)-rifampicin

O-(ADP-D-ribosyl) derivative of rifampicin; major species at pH 7.3.


Bisulepin

An organic heterotricyclic compound that is 4,9-dihydrothieno[2,3-c][2]benzothiepine substituted by a 3-(dimethylamino)propylidene group at position 4.


Homofenazine

A phenothiazine derivative having a trifluoromethyl subsitituent at the 2-position and a 3-[4-(2-hydroxyethyl)diazepin-1-yl]propyl group at the N-10 position.


A benzocycloheptapyridine that is benzo[5,6]cyclohepta[1,2-b]pyridine which is substituted at positions 3 and 10 by bromines, at position 8 by chlorine, and at position 11 by an N-acetylpiperidin-4-yl group in which one of the hydrogens of the acetyl moiety has been replaced by a 1-carbamoylpiperidin-4-yl group.


The monoprotonated form of 3,6-bis(dimethylamino)acridine.


27-O-Demethylrifamycin SV

A member of the class of rifamycins that is rifamycin SV lacking the O-methyl group at position 27.


Tetrabenazine

A benzoquinolizine that is 1,2,3,4,4a,9,10,10a-octahydrophenanthrene in which the carbon at position 10a is replaced by a nitrogen and which is substituted by an isobutyl group at position 2, an oxo group at position 3, and methoxy groups at positions 6 and 7.


(S)-etodolac

The S-enantiomer of etodolac. It is a preferential inhibitor of cyclo-oxygenase 2 and a non-steroidal anti-inflammatory, whereas the enantiomer, (R)-etodolac, is inactive. The racemate is commonly used for the treatment of rheumatoid arthritis and osteoarthritis, and for the alleviation of postoperative pain.


(R)-Carprofen

The (R)-(-)-enantomer of carprofen.


The (S)-(+)-enantiomer of carprofen.


pyranobenzodioxin

Any organic heterotricyclic compound whose core skeleton consists of a benzodioxin ring that is ortho-fused to a pyran ring.


The cationic form of 10-(3-carboxypropyl)-3,6-bis(dimethylamino)acridine.


delta9-Tetrahydrocannabinolic acid

A diterpenoid that is 6a,7,8,10a-tetrahydro-6H-benzo[c]chromene substituted at position 1 by a hydroxy group, positions 6, 6 and 9 by methyl groups and at position 3 by a pentyl group. A biosynthetic precursor to Delta(9)-tetrahydrocannabinol, the principal psychoactive constituent of the cannabis plant.


furanochromone

An organic heterotricyclic compound that is chromone which is ortho-fused to a furan ring and its substituted derivatives thereof.


Aceprometazine, (R)-

The (R)-enantiomer of aceprometazine.


(R)-mosapramine

A 1'-[3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)propyl]hexahydro-2H-spiro[imidazo[1,2-a]pyridine-3,4'-piperidin]-2-one that has (R)-configuration.


pyridochromene

An organic heterotricyclic compound composed of a pyridine ring fused to a chromene.


Propyromazine

A racemate comprising equimolar amounts of (R)- and (S)-propyromazine.


Metofenazate

A phenothiazine derivative having a chloro subsitituent at the 2-position and a 4-substituted 3-(piperazin-1-yl)propyl group at the N-10 position.


Leucomethylene blue

A member of the class of phenothiazines that is 10H-phenothiazine in which the ring hydrogens at positions 3 and 7 have been replaced by dimethylamino groups.


(R)-Etodolac

The R-enantiomer of etodolac. It is inactive, in contrast to the enantiomer, (S)-etodolac, which is a preferential inhibitor of cyclo-oxygenase 2 and a non-steroidal anti-inflammatory. The racemate is commonly used for the treatment of rheumatoid arthritis and osteoarthritis, and for the alleviation of postoperative pain.


(R)-propyromazine

A 1-methyl-1-[1-oxo-1-(10H-phenothiazin-10-yl)propan-2-yl]pyrrolidinium that has R-configuration.


A member of the class of rifamycins that is rifamycin itself in which the hydroxy hydrogen at position 21 has been replaced by a phosphono group.


beta-carbolines

Any pyridoindole containing a beta-carboline skeleton and their hydrogenated derivatives


Basic Orange 14

Fluorescent dye useful for cell cycle determination. It is cell-permeable, and interacts with DNA and RNA by intercalation or electrostatic attractions respectively.


Chlorpromazine N-oxide

An organochlorine compound that is chlorpromazine in which the acyclic tertiary amino group has been converted into the corresponding N-oxide.


azepinoindole

Any organic heterotricyclic compound with a skeleton consisting of an azepine ring fused to an indole.


Acridine half-mustard

A member of the class of aminoacridines that is acridine which is substituted by a methoxy group at position 2, chlorine at position 6, and a {3-[(2-chloroethyl)amino]propyl}amino group at position 9.


benzoquinolizine

Any organic heterotricyclic compound with a skeleton consisting of a quinolizine fused to a benzene ring.


A furanocoumarin which bears a methoxy group at position 5.


dipyridodiazepine

An organic heterotricyclic compound whose skeleton consists of a diazepine ring which is fused to two pyridine rings.


The S-enantiomer of tianeptine.


flavin

A derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione) skeleton, with a substituent on the 10 position.


pyridobenzodiazepine

Any three-ring heterocyclic compound with a skeleton consisting of a pyridine ring ortho-fused to a benzodiazepine.


dibenzodiazepine

Any organic heterotricyclic compound with a skeleton consisting of two benzene rings fused to a diazepine ring.


(S)-propyromazine

A 1-methyl-1-[1-oxo-1-(10H-phenothiazin-10-yl)propan-2-yl]pyrrolidinium that has S-configuration.


(S)-ethopropazine

The (S)-enantiomer of profenamine.


triazolobenzodiazepine

Any organic heterotricyclic compound that is any benzodiazepine which is ortho-fused with a triazole.


A dibenzoazepine that is 5,7-dihydro-6H-dibenzo[b,d]azepin-6-one which is substituted at the 7 pro-S position by the C-terminal carboxamide nitrogen of N(2)-[(2S)-2-(3,5-difluorophenyl)-2-hydroxyacetyl]-L-alaninamide. It is a potent, cell permeable and selective gamma-secretase inhibitor. It has been tested as a possible treatment for Alzheimer's disease and shows promise for its potential to counteract severe hearing loss.


Thiopropazate

A phenothiazine derivative in which 10H-phenothiazine has a chloro subsitituent at the 2-position and a 3-[4-(2-acetoxyethyl)piperazin-1-yl]propyl group at N-10.


thioxanthenes

Thioxanthene and its substitution derivatives.


Rifampicin

A member of the class of rifamycins that is a a semisynthetic antibiotic derived from Amycolatopsis rifamycinica (previously known as Amycolatopsis mediterranei and Streptomyces mediterranei).


oxazinoquinoline

Any organic heterotricyclic compound based on a skeleton comprised of an oxazine ring fused onto a quinoline system.


An  epoxide and metabolite of carbamazepine.


Licarbazepine

A dibenzoazepine that is 5H-dibenzo[b,f]azepine, reduced across the C-10,11 positions and carrying a carbamoyl substituent at the azepine nitrogen and a hydroxy function at C-10. A voltage-gated sodium channel blocker with anticonvulsant and mood-stabilizing effects, it is related to oxcarbazepine and is an active metabolite of oxcarbazepine.


hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.


transient receptor potential cation channel subfamily M member 2 isoform h2 (human)

A transient receptor potential cation channel subfamily M member 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O94759-2.


phosphatidylserine lipase ABHD16A isoform 1 (human)

A phosphatidylserine lipase ABHD16A isoform 1 that is encoded in the genome of human.


multiple mitochondrial dysfunctions syndrome 6


inborn organic aciduria

An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.


3-hydroxyisobutyric aciduria

3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.


maple syrup urine disease

An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.


glutaric acidemia type 3

Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.


3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.


3-methylglutaconic aciduria type 3

3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterized by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.


beta-ketothiolase deficiency

Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.


3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.


methylmalonic aciduria, cblB type

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.


methylmalonate semialdehyde dehydrogenase deficiency


maple syrup urine disease type 1A

A maple syrup urine disease caused by mutations in BCKDHA.


methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.


thiamine-responsive maple syrup urine disease

Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.


multiple carboxylase deficiency

Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.


fatal multiple mitochondrial dysfunctions syndrome

Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.


malonic aciduria

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).


methylmalonic aciduria and homocystinuria

An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).


disorder of fatty acid oxidation and ketogenesis


inherited lipoic acid biosynthesis defect

An inherited metabolic disease that is has its basis in the disruption of lipoate biosynthetic process.


vitamin B12-unresponsive methylmalonic acidemia type mut0

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.


methylmalonic aciduria, cblA type

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.


methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.


medium chain acyl-CoA dehydrogenase deficiency

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.


combined malonic and methylmalonic acidemia

Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.


methylmalonic acidemia with homocystinuria, type cblX


methylmalonic aciduria and homocystinuria type cblD

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.


Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.


3-methylglutaconic aciduria type 5

A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.


maple syrup urine disease type 1B

A maple syrup urine disease caused by mutations in BCKDHB.


intermediate maple syrup urine disease

Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.


methylmalonic aciduria and homocystinuria type cblF

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.


methylmalonic aciduria and homocystinuria type cblC

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.


systemic primary carnitine deficiency disease

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.


intermittent maple syrup urine disease

Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.


3-methylcrotonyl-CoA carboxylase 1 deficiency

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.


3-methylglutaconic aciduria type 1

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.


multiple mitochondrial dysfunctions syndrome 7


multiple mitochondrial dysfunctions syndrome 5


3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.


3-methylglutaconic aciduria type 4

3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterized by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).


3-methylcrotonyl-CoA carboxylase 2 deficiency

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.


transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.


methylmalonic acidemia due to transcobalamin receptor defect

Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.


lipoic acid synthetase deficiency

Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.


multiple mitochondrial dysfunctions syndrome 1

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene.


multiple mitochondrial dysfunctions syndrome 2

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.


multiple mitochondrial dysfunctions syndrome 4

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.


classic maple syrup urine disease

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.


methylmalonic acidemia with homocystinuria, type cblJ

An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the ABCD4 gene, encoding lysosomal cobalamin transporter ABCD4.


multiple mitochondrial dysfunctions syndrome 3

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.


maple syrup urine disease type 2

A maple syrup urine disease caused by mutations in DBT.


short chain acyl-CoA dehydrogenase deficiency

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.


acyl-CoA dehydrogenase 9 deficiency

A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.


vitamin B12-unresponsive methylmalonic acidemia type mut-

Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.


3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.


dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities


vitamin B12-responsive methylmalonic acidemia

Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).


vitamin B12-responsive methylmalonic acidemia, type cblDv2


carnitine palmitoyl transferase 1A deficiency

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.


MBT domain-containing protein 1 isoform h1 (human)

An MBT domain-containing 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:Q05BQ5-1.


Unresectable Pleural Sarcomatoid Mesothelioma

Pleural sarcomatoid mesothelioma that is not amenable to surgical resection.


Pleural Desmoplastic Mesothelioma

Malignant mesothelioma that arises from the pleura. It is characterized by the presence of dense collagenized stroma occupying at least 50% of the tumor. The malignant cells are arranged in a vague storiform pattern.


Unresectable Peritoneal Epithelioid Mesothelioma

Peritoneal epithelioid mesothelioma that is not amenable to surgical resection.


Unresectable Paratesticular Sarcomatoid Mesothelioma

Paratesticular sarcomatoid mesothelioma that is not amenable to surgical resection.


Paratesticular Epithelioid Mesothelioma

A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.


Desmoplastic mesothelioma

A malignant neoplasm arising from mesothelial cells. It is characterized by the presence of a dense collagenous tissue and atypical neoplastic cells. Sarcomatoid features, collagenous necrosis, and infiltration of muscle and adipose tissue may be present. It occurs in the pleura and less commonly in the peritoneum.


Peritoneal Epithelioid Mesothelioma

Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.


malignant biphasic mesothelioma

A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features.


Unresectable Paratesticular Epithelioid Mesothelioma

Paratesticular epithelioid mesothelioma that is not amenable to surgical resection.


Peritoneal Biphasic Mesothelioma

Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.


Unresectable Pleural Biphasic Mesothelioma

Pleural biphasic mesothelioma that is not amenable to surgical resection.


Unresectable Paratesticular Biphasic Mesothelioma

Paratesticular biphasic mesothelioma that is not amenable to surgical resection.


Paratesticular Sarcomatoid Mesothelioma

A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.


Unresectable Peritoneal Sarcomatoid Mesothelioma

Peritoneal sarcomatoid mesothelioma that is not amenable to surgical resection.


pleural biphasic mesothelioma

Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.


Advanced Epithelioid Mesothelioma

Epithelioid mesothelioma that has spread extensively to other anatomic sites or is no longer responding to treatment.


sarcomatoid mesothelioma

A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.


pleural sarcomatoid mesothelioma

Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma.


Paratesticular Biphasic Mesothelioma

A rare malignant mesothelioma arising from the tunica vaginalis. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.


Unresectable Pleural Epithelioid Mesothelioma

Pleural epithelioid mesothelioma that is not amenable to surgical resection.


Recurrent Epithelioid Mesothelioma

The reemergence of epithelioid mesothelioma after a period of remission.


pleural epithelioid mesothelioma

Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.


Unresectable Peritoneal Biphasic Mesothelioma

Peritoneal biphasic mesothelioma that is not amenable to surgical resection.


Peritoneal Sarcomatoid Mesothelioma

Malignant mesothelioma that arises from the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.


malignant epithelioid mesothelioma

A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity.


oculocutaneous albinism type 4

Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.


Grade 1 Spine Kyphosis or Lordosis, CTCAE


Metastatic Squamous Cell Carcinoma of the Penis

Squamous cell carcinoma of the penis that has spread from its original site of growth to another anatomic site.


Nuclear Expression of STAT6 Protein

A finding indicating the presence of STAT6 nuclear signal in tumor cells by immunohistochemistry. It results from the fusion of the NAB2 and STAT6 genes.


leptin receptor isoform C (human)

A leptin 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:P48357-3.


Childhood Protoplasmic Astrocytoma

A protoplasmic astrocytoma that occurs during childhood.


Recurrent Childhood Protoplasmic Astrocytoma

The reemergence of protoplasmic astrocytoma in childhood after a period of remission.


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


Malignant fibrous histiocytoma recurrent

Reemergence of undifferentiated pleomorphic sarcoma after a period of remission.


Elevated HMGA2

A finding indicating elevated concentrations of HMGA2 in a sample.


solute carrier family 22 member 6 isoform h1 (human)

A solute carrier family 22 member 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q4U2R8-1.


male pseudohermaphroditism due to defective lh molecule


T-cell surface glycoprotein CD4 N-glycosylated 4 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G17689DH. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G17689DH.


CD4 molecule

A protein that is a translation product of the human CD4 gene or a 1:1 ortholog thereof. CD4 is an accessory protein for MHC class-II antigen/T-cell receptor interaction. It is the primary receptor for HIV-1. CD4 has four immunoglobulin-like domains in its extracellular region that share the same structure, but can differ in sequence.


T-cell surface glycoprotein CD4 N-glycosylated 52 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G87633UQ. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G87633UQ.


T-cell surface glycoprotein CD4 N-glycosylated 51 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G78059CC.


T-cell surface glycoprotein CD4 N-glycosylated 41 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G45498YC. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G45498YC.


T-cell surface glycoprotein CD4 N-glycosylated 47 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G57413FT. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G57413FT.


T-cell surface glycoprotein CD4 N-glycosylated 39 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G38756OC. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G38756OC.


T-cell surface glycoprotein CD4 N-glycosylated 18 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53450AF. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G53450AF.


T-cell surface glycoprotein CD4 N-glycosylated 16 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G45560HM. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G45560HM.


T-cell surface glycoprotein CD4 N-glycosylated 48 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G64132UH. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G64132UH.


T-cell surface glycoprotein CD4 N-glycosylated 31 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G18188WJ. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G18188WJ.


T-cell surface glycoprotein CD4 N-glycosylated 34 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G27561QX. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G27561QX.


T-cell surface glycoprotein CD4 N-glycosylated 5 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G18188WJ. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G18188WJ.


T-cell surface glycoprotein CD4 N-glycosylated 45 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53752TA. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G53752TA.


T-cell surface glycoprotein CD4 N-glycosylated 19 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53752TA. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G53752TA.


CD4 molecule isoform 1 phosphorylated 1 (human)

A CD4 molecule isoform 1 phosphorylated 1 in human.


T-cell surface glycoprotein CD4 N-glycosylated 38 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G37166HP. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G37166HP.


T-cell surface glycoprotein CD4 N-glycosylated 30 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G17689DH. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G17689DH.


T-cell surface glycoprotein CD4 N-glycosylated 17 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G52622SW. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G52622SW.


T-cell surface glycoprotein CD4 N-glycosylated 28 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G05950HG. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G05950HG.


T-cell surface glycoprotein CD4 N-glycosylated 36 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G35599NO. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G35599NO.


T-cell surface glycoprotein CD4 N-glycosylated 3 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G07995VK. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G07995VK.


T-cell surface glycoprotein CD4 N-glycosylated 37 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G36191CD.


T-cell surface glycoprotein CD4 N-glycosylated 21 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G57413FT. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G57413FT.


T-cell surface glycoprotein CD4 N-glycosylated 49 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G65890UA. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G65890UA.


T-cell surface glycoprotein CD4 N-glycosylated 10 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G35599NO. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G35599NO.


T-cell surface glycoprotein CD4 N-glycosylated 14 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G44276EF. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G44276EF.


T-cell surface glycoprotein CD4 N-glycosylated 29 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G07995VK. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G07995VK.


T-cell surface glycoprotein CD4 N-glycosylated 12 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G37166HP. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G37166HP.


T-cell surface glycoprotein CD4 N-glycosylated 2 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G05950HG. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G05950HG.


T-cell surface glycoprotein CD4 N-glycosylated 27 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G03860PZ. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G03860PZ.


T-cell surface glycoprotein CD4 N-glycosylated 22 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G64132UH. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G64132UH.


T-cell surface glycoprotein CD4 N-glycosylated 35 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G30460NZ. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G30460NZ.


T-cell surface glycoprotein CD4 N-glycosylated 26 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G87633UQ. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G87633UQ.


T-cell surface glycoprotein CD4 N-glycosylated 7 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G20966IA. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G20966IA.


T-cell surface glycoprotein CD4 N-glycosylated 15 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G45498YC. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G45498YC.


T-cell surface glycoprotein CD4 N-glycosylated 50 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G77252PU. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G77252PU.


T-cell surface glycoprotein CD4 N-glycosylated 20 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53962WT. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G53962WT.


T-cell surface glycoprotein CD4 N-glycosylated 44 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53450AF. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G53450AF.


T-cell surface glycoprotein CD4 N-glycosylated 6 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G20779SK. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G20779SK.


T-cell surface glycoprotein CD4 N-glycosylated 24 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G77252PU. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G77252PU.


T-cell surface glycoprotein CD4 N-glycosylated 1 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G03860PZ. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G03860PZ.


T-cell surface glycoprotein CD4 N-glycosylated 42 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G45560HM. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G45560HM.


T-cell surface glycoprotein CD4 N-glycosylated 13 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G38756OC. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G38756OC.


T-cell surface glycoprotein CD4 N-glycosylated 8 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G27561QX. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G27561QX.


T-cell surface glycoprotein CD4 N-glycosylated 40 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G44276EF. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G44276EF.


T-cell surface glycoprotein CD4 isoform 1 (human)

A CD4 molecule isoform 1 that is encoded in the genome of human.


T-cell surface glycoprotein CD4 N-glycosylated 46 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G53962WT. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G53962WT.


T-cell surface glycoprotein CD4 N-glycosylated 32 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G20779SK. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G20779SK.


T-cell surface glycoprotein CD4 N-glycosylated 33 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G20966IA. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G20966IA.


T-cell surface glycoprotein CD4 N-glycosylated 25 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G78059CC. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G78059CC.


T-cell surface glycoprotein CD4 N-glycosylated 9 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G30460NZ. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G30460NZ.


CD4 molecule, signal peptide removed form (human)

A CD4 molecule, signal peptide removed form in human. UniProtKB:P01730, 26-458.


T-cell surface glycoprotein CD4 N-glycosylated 43 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-325 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G52622SW. Example: UniProtKB:P01730-1, Asn-325, MOD:00160~GNO:G52622SW.


T-cell surface glycoprotein CD4 N-glycosylated 11 (human)

A T-cell surface glycoprotein CD4 (human) that has been N-glycosylated at the residue equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P01730-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01730-1, Asn-296, MOD:00160~GNO:G36191CD.


Skin Infection, CTCAE

A disorder characterized by an infectious process involving the skin such as cellulitis.


Grade 1 Skin Infection, CTCAE

Localized, local intervention indicated


Grade 2 Skin Infection, CTCAE

Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)


Grade 3 Skin Infection, CTCAE

IV antibiotic, antifungal, or antiviral intervention indicated; invasive intervention indicated


Grade 4 Skin Infection, CTCAE

Life-threatening consequences; urgent intervention indicated


Grade 5 Skin Infection, CTCAE

Death


voltage-gated potassium channel KCNC1

A shaw-related voltage-gated potassium channel alpha subunit that is a translation product of the human KCNC1 gene or a 1:1 ortholog thereof. They contain an ATM motif at the C-terminus, following the S6 segment that allows interaction with axonal targeting machinery when exposed.


potassium voltage-gated channel subfamily C member 1 isoform h2 (human)

A potassium voltage-gated channel subfamily C member 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48547-2.


potassium voltage-gated channel subfamily C member 1, isoform Short (mouse)

A voltage-gated potassium channel KCNC1 isoform Short that is encoded in the genome of mouse.


voltage-gated potassium channel KCNC1 isoform Long phosphorylated 1 (rat)

A voltage-gated potassium channel KCNC1 isoform Long phosphorylated 1 in rat. UniProtKB:P25122-1, Ser-503, MOD:00046.


potassium voltage-gated channel subfamily C member 1 isoform 1 (human)

A voltage-gated potassium channel KCNC1 isoform Short that is encoded in the genome of human.


potassium voltage-gated channel subfamily C member 1 isoform Long (rat)

A voltage-gated potassium channel KCNC1 isoform Long that is encoded in the genome of rat.


potassium voltage-gated channel subfamily C member 1 isoform Short (rat)

A voltage-gated potassium channel KCNC1 isoform Short that is encoded in the genome of rat.


potassium voltage-gated channel subfamily C member 1, isoform Long (mouse)

A voltage-gated potassium channel KCNC1 isoform Long that is encoded in the genome of mouse.


voltage-gated potassium channel KCNC1 isoform Long unphosphorylated 1 (rat)

A potassium voltage-gated channel subfamily C member 1 isoform Long (rat) that lacks phosphorylation on Ser-503. UniProtKB:P25122-1, Ser-503, PR:000026291.


silicone macromolecule

Macromolecular or oligomeric derivatives of siloxanes, usually considered unbranched, of general formula [-OSiR2-]n (R =/= H).


polydimethylsiloxane macromolecule

A fully methylated siloxane macromolecule.


Hard Palate Squamous Cell Carcinoma

A squamous cell carcinoma that arises from the hard palate.  It usually presents as a papillary or exophytic mass.


Squamous cell carcinoma of palate

A squamous cell carcinoma that arises from the hard or soft palate.


sebaceous gland neoplasm

A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma.


sebaceous gland cancer

A cancer that involves the sebaceous gland.


benign neoplasm of sebaceous gland

A benign neoplasm that involves the sebaceous gland.


Grade 2 Pneumonitis and Pulmonary Infiltrates, CTCAE


Gastric Granular Cell Tumor

A benign or malignant granular cell tumor that arises from the stomach.


Benign Gastric Granular Cell Tumor

A non-metastasizing neoplasm arising from the gastric wall.  It is characterized by the presence of large polygonal cells with abundant granular cytoplasm.


G protein-activated inward rectifier potassium channel

An inwardly rectifying potassium channel protein that has core architecture consisting of an Inward rectifier potassium channel domain (Pfam:PF01007), which may be preceeded by an Inward rectifier potassium channel N-terminal domain (Pfam:PF08466).


G protein-activated inward rectifier potassium channel 2 isoform mGIRK2A (mouse)

A G protein-activated inward rectifier potassium channel 2 (mouse) 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:P48542-1.


G protein-activated inward rectifier potassium channel 2 isoform mGIRK2C (mouse)

A G protein-activated inward rectifier potassium channel 2 (mouse) 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:P48542-4.


ATP-sensitive inward rectifier potassium channel 11

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ11 gene or a 1:1 ortholog thereof.


ATP-sensitive inward rectifier potassium channel 11 isoform h2 (human)

An ATP-sensitive inward rectifier potassium channel 11 (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:Q14654-2.


G protein-activated inward rectifier potassium channel 1 isoform 1 (human)

A G protein-activated inward rectifier potassium channel 1 isoform 1 that is encoded in the genome of human.


ATP-sensitive inward rectifier potassium channel 1

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ1 gene or a 1:1 ortholog thereof.


ATP-sensitive inward rectifier potassium channel 8

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ8 gene or a 1:1 ortholog thereof.


G protein-activated inward rectifier potassium channel 2 isoform mGIRK2B (mouse)

A G protein-activated inward rectifier potassium channel 2 (mouse) 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:P48542-3.


G protein-activated inward rectifier potassium channel 1

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ3 gene or a 1:1 ortholog thereof.


ATP-sensitive inward rectifier potassium channel 1 isoform h2 (human)

An ATP-sensitive inward rectifier potassium channel 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:P48048-2.


ATP-sensitive inward rectifier potassium channel 10 isoform 1 (human)

An ATP-sensitive inward rectifier potassium channel 10 isoform 1 that is encoded in the genome of human.


G protein-activated inward rectifier potassium channel 2 isoform mGIRK2-1 (mouse)

A G protein-activated inward rectifier potassium channel 2 (mouse) 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:P48542-2.


G protein-activated inward rectifier potassium channel 2 isoform mGIRK2D (mouse)

A G protein-activated inward rectifier potassium channel 2 (mouse) 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:P48542-5.


ATP-sensitive inward rectifier potassium channel 11 isoform 1 (mouse)

An ATP-sensitive inward rectifier potassium channel 11 isoform 1 that is encoded in the genome of mouse.


inward rectifier potassium channel 4

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ4 gene or a 1:1 ortholog thereof.


ATP-sensitive inward rectifier potassium channel 11 isoform 1 (human)

An ATP-sensitive inward rectifier potassium channel 11 isoform 1 that is encoded in the genome of human.


ATP-sensitive inward rectifier potassium channel 8 isoform 1 (human)

An ATP-sensitive inward rectifier potassium channel 8 isoform 1 that is encoded in the genome of human.


ATP-sensitive inward rectifier potassium channel 1 isoform 1 (human)

An ATP-sensitive inward rectifier potassium channel 1 isoform 1 that is encoded in the genome of human.


ATP-sensitive inward rectifier potassium channel 1 isoform h3 (human)

An ATP-sensitive inward rectifier potassium channel 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:P48048-3.


G protein-activated inward rectifier potassium channel 4

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ5 gene or a 1:1 ortholog thereof.


G protein-activated inward rectifier potassium channel 1 isoform h2 (human)

A G protein-activated inward rectifier potassium channel 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:P48549-2.


G protein-activated inward rectifier potassium channel 4 isoform 1 (human)

A G protein-activated inward rectifier potassium channel 4 isoform 1 that is encoded in the genome of human.


ATP-sensitive inward rectifier potassium channel 10

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ10 gene or a 1:1 ortholog thereof.


inward rectifier potassium channel 4 phosphorylated 1 (human)

An inward rectifier potassium channel 4 (human) that has been phosphorylated at Tyr-234. UniProtKB:P48050, Tyr-234, MOD:00048.


G protein-activated inward rectifier potassium channel 2

A G protein-activated inward rectifier potassium channel that is a translation product of the human KCNJ6 gene or a 1:1 ortholog thereof.


TARP syndrome

A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.


Grade 2 Neonatal Coagulation Disorder, AE

An adverse event in a newborn characterized by biochemical coagulation abnormalities with clinical signs; requiring increased monitoring.


Grade 1 Abdomen NOS Intra-Operative Injury, CTCAE


Stage IV Penile Cancer AJCC v6

Stage IV includes: (T4, Any N, M0); (Any T, N3, M0); (Any T, Any N, M1).  T4: Tumor invades other adjacent structures.  N3: Metastasis in deep inguinal or pelvic lymph node(s) unilateral or bilateral.  M1: Distant metastasis.  (AJCC 6th ed.)


Penile Cancer by AJCC v6 Stage

A term that refers to the staging of penile carcinoma according to the American Joint Committee on Cancer, 6th edition.


Stage III Penile Cancer AJCC v6

Stage III includes: (T1, N2, M0); (T2, N2, M0); (T3, N0, M0); (T3, N1, M0); (T3, N2, M0).  T1: Tumor invades subepithelial connective tissue.  T2: Tumor invades corpus spongiosum or cavernosum.  T3: Tumor invades urethra or prostate.  N0: No regional lymph node metastasis.  N1: Metastasis in single superficial, inguinal lymph node. N2: Metastasis in multiple or bilateral superficial inguinal lymph nodes.  M0: No distant metastasis. (AJCC 6th ed.)


Stage I Penile Cancer AJCC v6

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