ectodysplasin-A isoform h6 (human)

An ectodysplasin-A (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:Q92838-7.


left ventricular noncompaction 7

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

description: Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene.


dilated cardiomyopathy 1DD

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.


dilated cardiomyopathy 1CC

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.


46,XY sex reversal 4

description: Sex reversal in an individual associated with a 9p24.3 deletion.


name: Beckwith-Wiedemann syndrome due to CDKN1C mutation


dilated cardiomyopathy 1J

description: An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.


name: 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency


viral dilated cardiomyopathy

description: An dilated cardiomyopathy caused by infection with Viruses.


name: familial isolated arrhythmogenic ventricular dysplasia, right dominant form


dilated cardiomyopathy 1AA

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.


LEOPARD syndrome 2

description: Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.


name: cardiomyopathy, familial hypertrophic, 28


left ventricular noncompaction 8

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene.


cardiofaciocutaneous syndrome 3

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene.


Noonan syndrome 1

description: Noonan syndrome caused by mutations in the PTPN11 gene.


name: DK1-congenital disorder of glycosylation

description: DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.


Noonan syndrome 8

description: Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene.


name: Emery-Dreifuss muscular dystrophy 2, autosomal dominant

description: Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.


name: familial isolated arrhythmogenic ventricular dysplasia, biventricular form


name: arrhythmogenic right ventricular dysplasia 6

description: An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12.


Noonan syndrome 11

description: Noonan syndrome caused by autosomal dominant mutation(s) in the MRAS gene, encoding Ras-related protein M-Ras.


Legius syndrome

description: Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.


Noonan syndrome 5

description: Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.


dilated cardiomyopathy 1U

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.


description: Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.


name: arrhythmogenic right ventricular dysplasia 13

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene.


cardiomyopathy, dilated, 2c

description: A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.


dilated cardiomyopathy 1L

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene.


dilated cardiomyopathy 1X

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene.


name: arrhythmogenic right ventricular dysplasia 11

description: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.


name: arrhythmogenic right ventricular dysplasia 8

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.


Noonan syndrome 7

description: Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene.


dilated cardiomyopathy 1C

description: A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.


dilated cardiomyopathy 1M

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.


name: arrhythmogenic right ventricular dysplasia 5

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.


dilated cardiomyopathy 1H

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22.


atrial standstill 1

description: Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene.


dilated cardiomyopathy 1R

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.


name: arrhythmogenic right ventricular dysplasia 3

description: An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22.


hypertrophic cardiomyopathy 26

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene.


interstitial myocarditis

description: Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present.


PRKAG2-related cardiomyopathy

description: A metabolic heart condition characterized by variable cardiac hypertrophy, ventricular pre-excitation, and aberrant glycogen storage in the cardiac tissue due to a pathogenic variant in PRKAG2 that results in a net anabolic effect in cardiac cells.


name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15


name: Beckwith-Wiedemann syndrome due to 11p15 microduplication


dilated cardiomyopathy 1I

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene.


hypertrophic cardiomyopathy 10

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.


noonan syndrome 12

description: Noonan syndrome caused by autosomal dominant mutation(s) in the RRAS2 gene, encoding Ras-related protein R-Ras2.


name: glycogen storage disease due to acid maltase deficiency, infantile onset

description: Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.


name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.


cardiomyopathy, dilated, 1MM

description: A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.


cardiomyopathy, dilated, 2E

description: A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.


description: X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.


dilated cardiomyopathy 1EE

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.


hypertrophic cardiomyopathy 13

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.


hypertrophic cardiomyopathy 11

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.


dilated cardiomyopathy 1KK

description: Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.


Noonan syndrome 4

description: Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.


cardiomyopathy, dilated, 2F

description: A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32.


diphtheritic myocarditis

description: An myocarditis caused by infection with Corynebacterium diphtheriae.


hypertrophic cardiomyopathy 15

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.


name: congenital myopathy 7A, myosin storage, autosomal dominant


name: arrhythmogenic right ventricular dysplasia 12

description: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene.


hypertrophic cardiomyopathy 18

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.


name: Emery-Dreifuss muscular dystrophy 7, autosomal dominant

description: Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.


atrial standstill 2

description: Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene.


name: long chain acyl-CoA dehydrogenase deficiency

description: A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.


name: cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies


hypertrophic cardiomyopathy 7

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.


glutaric acidemia IIc

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.


dilated cardiomyopathy 1NN

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene.


cardiofaciocutaneous syndrome 1

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.


left ventricular noncompaction 1

description: Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene.


name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion


name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.


dilated cardiomyopathy 2A

description: A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.


name: Emery-Dreifuss muscular dystrophy 5, autosomal dominant

description: Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene.


glutaric acidemia IIb

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.


dilated cardiomyopathy 1S

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.


dilated cardiomyopathy 1GG

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene.


dilated cardiomyopathy 1E

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene.


Noonan syndrome 6

description: Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene.


hypertrophic cardiomyopathy 19

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene.


dilated cardiomyopathy 1D

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.


dilated cardiomyopathy 1P

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.


hypertrophic cardiomyopathy 21

description: A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.


Noonan syndrome 13

description: Noonan syndrome caused by autosomal dominant mutation(s) in the MAPK1 gene, encoding mitogen-activated protein kinase 1.


name: arrhythmogenic right ventricular dysplasia, familial, 14


description: X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.


hypertrophic cardiomyopathy 3

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.


LEOPARD syndrome 3

description: Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene.


name: cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction


hypertrophic cardiomyopathy 12

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.


name: progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

description: Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.


dilated cardiomyopathy 1JJ

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene.


hypertrophic cardiomyopathy 16

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.


dilated cardiomyopathy 1FF

description: A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42.


dilated cardiomyopathy 1Z

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.


name: arrhythmogenic right ventricular dysplasia 9

description: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.


name: X-linked Emery-Dreifuss muscular dystrophy

description: X-linked form of Emery-Dreifuss muscular dystrophy.


cardiomyopathy, familial restrictive, 1

description: Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.


dilated cardiomyopathy 1BB

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.


familial restrictive cardiomyopathy

description: An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.


fatal infantile encephalocardiomyopathy

description: Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.


Noonan syndrome 9

description: Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene.


name: multiple acyl-CoA dehydrogenase deficiency, severe neonatal type


hypertrophic cardiomyopathy 8

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.


cardiomyopathy, familial restrictive, 3

description: Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


dilated cardiomyopathy 3B

description: Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene.


rheumatic myocarditis

description: Inflammation of the myocardium in acute rheumatic heart disease.


Noonan syndrome 10

description: Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene.


name: autosomal dominant Emery-Dreifuss muscular dystrophy

description: Autosomal dominant form of Emery-Dreifuss muscular dystrophy.


name: arrhythmogenic right ventricular dysplasia 1

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.


name: Noonan syndrome-like disorder with loose anagen hair 1

description: An inherited condition caused by autosomal dominant mutation(s) in the SHOC2 gene, encoding leucine-rich repeat protein SHOC-2. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.


dilated cardiomyopathy 1HH

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.


dilated cardiomyopathy 1G

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.


name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome


name: Beckwith-Wiedemann syndrome due to NSD1 mutation


name: Emery-Dreifuss muscular dystrophy 6, X-linked


name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion


glutaric acidemia IIa

description: Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.


name: Noonan syndrome-like disorder with loose anagen hair 2

description: An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.


dilated cardiomyopathy 1Q

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.


name: disseminated eosinophilic collagen disease


name: glycogen storage disease due to acid maltase deficiency, late-onset

description: Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes.


hypertrophic cardiomyopathy 17

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.


name: arrhythmogenic right ventricular dysplasia 10

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.


dilated cardiomyopathy 1O

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.


name: Noonan syndrome and Noonan-related syndrome


dilated cardiomyopathy 1V

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.


dilated cardiomyopathy 1B

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13.


left ventricular noncompaction 10

description: Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene.


cardiofaciocutaneous syndrome 2

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene.


hypertrophic cardiomyopathy 2

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene.


dilated cardiomyopathy 1W

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.


name: lethal congenital glycogen storage disease of heart

description: Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.


name: early-onset myopathy with fatal cardiomyopathy


name: hypertrophic cardiomyopathy due to intensive athletic training


name: cardiomyopathy, familial hypertrophic, 30, atrial


Noonan syndrome 3

description: Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.


name: Emery-Dreifuss muscular dystrophy 4, autosomal dominant

description: Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.


name: autosomal recessive limb-girdle muscular dystrophy type 2F

description: Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.


hypertrophic cardiomyopathy 25

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.


name: autosomal recessive limb-girdle muscular dystrophy type 2C

description: Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.


hypertrophic cardiomyopathy 6

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.


name: familial isolated arrhythmogenic ventricular dysplasia, left dominant form


name: symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

description: Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.


cardiomyopathy, dilated, 2G

description: A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.


description: An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual.


dilated cardiomyopathy 1II

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene.


Noonan syndrome 2

description: Noonan syndrome caused by autosomal recessive mutation(s) in the LZTR1 gene, encoding leucine-zipper-like transcriptional regulator 1.


Naxos disease

description: A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.


46,XY sex reversal 1

description: Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.


name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.


name: autosomal recessive limb-girdle muscular dystrophy type 2E

description: Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.


name: arrhythmogenic right ventricular dysplasia 4

description: An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3.


name: multiple acyl-CoA dehydrogenase deficiency, mild type


name: autosomal recessive limb-girdle muscular dystrophy type 2W

description: Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.


name: cardiomyopathy, familial hypertrophic 27

description: An autosomal recessive subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ALPK3 gene, encoding alpha-protein kinase 3.


dilated cardiomyopathy 1K

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16.


dilated cardiomyopathy 1Y

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.


hypertrophic cardiomyopathy 9

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene.


cardiofaciocutaneous syndrome 4

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene.


name: Emery-Dreifuss muscular dystrophy 1, X-linked

description: Emery-Dreifuss muscular dystrophy inherited in an X-linked recessive pattern and caused by mutations in the EMD gene, encoding emerin.


name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11


name: familial isolated arrhythmogenic right ventricular dysplasia

description: Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.


dilated cardiomyopathy 2B

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.


name: congenital-onset Steinert myotonic dystrophy


cardiomyopathy, dilated, 2D

description: A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.


name: Emery-Dreifuss muscular dystrophy 3, autosomal recessive

description: Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.


dilated cardiomyopathy 1A

description: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.


name: Noonan syndrome-like disorder with loose anagen hair

description: Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.


tropical endomyocardial fibrosis

description: Tropical endomyocardial fibrosis is a restrictive cardiopathy, occurring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.


name: NKX2.5-related congenital, conduction and myopathic heart disease

description: A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome.


mixed cerebral palsy

description: A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.


benign neoplasm of spinal cord

description: A benign neoplasm that involves the spinal cord.


Sacral Chordoma

description: A chordoma that arises from the sacral area.


name: sacral spinal canal and spinal cord meningioma

description: A meningioma that arises from the meninges of the sacral region of the spinal cord.


Lumbar Spine Neoplasm

description: A benign or malignant neoplasm that affects the lumbar region of the spine.


childhood spinal cord tumor

description: A benign or malignant neoplasm affecting the spinal cord during childhood.


name: intradural extramedullary spinal canal neoplasm

description: A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression.


name: thoracic spinal canal and spinal cord meningioma

description: A meningioma that arises from the meninges of the thoracic region of the spinal cord.


name: lumbar spinal canal and spinal cord meningioma

description: A meningioma that arises from the meninges of the lumbar region of the spinal cord.


spinal cord sarcoma

description: A sarcoma that arises from the spinal cord.


intraspinal meningioma

description: A meningioma that arises from the spinal meninges.


Cervical Spine Neoplasm

description: A benign or malignant neoplasm that affects the neck region of the spine.


name: Recurrent Childhood Spinal Cord Neoplasm

description: The reemergence of a spinal cord neoplasm in childhood after a period of remission.


Lumbosacral Spine Neoplasm

description: A benign or malignant neoplasm that affects the lumbosacral region of the spine.


epidural spinal canal angiolipoma

description: An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal.


cauda equina neuroendocrine tumor

description: A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina.


name: Refractory Childhood Spinal Cord Neoplasm

description: Spinal cord neoplasm in childhood which is resistant to treatment.


spinal multifocal clear cell meningioma

description: A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells.


name: multiple spinal canal and spinal cord meningioma

description: Multiple meningiomas that arises from the spinal meninges.


Spinal Cord Pilocytic Astrocytoma

description: Pilocytic astrocytoma that arises from the spinal cord.


Drop Metastasis in the Spinal Cord

description: An intradural extramedullary spinal metastasis from an intracranial tumor through the cerebrospinal fluid.


name: metastatic malignant neoplasm in the spinal cord

description: A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma.


spinal cord melanoma

description: A melanoma (disease) that involves the spinal cord.


name: Anaplastic (Malignant) Intraspinal Meningioma

description: An anaplastic (malignant) meningioma involving the spinal meninges.


conus medullaris neoplasm

description: A neoplasm (disease) that involves the conus medullaris.


Sacral Spine Neoplasm

description: A benign or malignant neoplasm that affects the sacral region of the spine.


Recurrent Adult Spinal Cord Neoplasm

description: The reemergence of a spinal cord neoplasm in adulthood after a period of remission.


Refractory Adult Spinal Cord Neoplasm

description: Spinal cord neoplasm in adulthood which is resistant to treatment.


Refractory Spinal Cord Neoplasm

description: Spinal cord neoplasm resistant to treatment.


lumbosacral lipoma

description: A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine.


Childhood Spinal Cord Ependymoma

description: An ependymoma of the spinal cord not associated with MYCN amplification and occurring in children.


epidural spinal canal meningioma

description: A meningioma that arises in the epidural spinal canal space.


Thoracic Chordoma

description: A chordoma that arises from the thoracic spine.


cauda equina neoplasm

description: A neoplasm involving a cauda equina.


Thoracic Spine Neoplasm

description: A benign or malignant neoplasm that affects the thoracic region of the spine.


Intraspinal Neoplasm

description: A neoplasm that occurs within the spinal canal including the spinal cord and surrounding paraspinal spaces.


name: cervical spinal canal and spinal cord meningioma

description: A meningioma that arises from the meninges of the cervical region of the spinal cord.


spinal cord lipoma

description: A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare.


Recurrent Spinal Cord Neoplasm

description: The reemergence of a spinal cord neoplasm after a period of remission.


Spinal meningioma benign

description: A grade I, slowly growing meningioma that arises from the spinal meninges.


Stage IB Fallopian Tube Cancer AJCC v8

description: Stage IB includes: T1b, N0, M0. T1b: Fallopian tube cancer with tumor limited to fallopian tubes; no tumor on fallopian tube surface; no malignant cells in ascites or peritoneal washings. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


name: gamma-2-syntrophin phosphorylated 1 (human)

description: A gamma-2-syntrophin (human) that has been phosphorylated on the residue at the position equivalent to Ser-204 of the amino acid sequence represented by UniProtKB:Q9NY99-1. Example: UniProtKB:Q9NY99-1, Ser-204, MOD:00046.


epididymal adenomatoid tumor

description: A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis.


pleural adenomatoid tumor

description: A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma.


uterine corpus adenomatoid tumor

description: A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures.


fallopian tube adenomatoid tumor

description: A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding.


name: stress-70 protein, mitochondrial methylated 3 (human)

description: A stress-70 protein, mitochondrial (human) that has been methylated on the residue at the position equivalent to Cys-366 of the amino acid sequence represented by UniProtKB:P38646. UniProtKB:P38646, Cys-366, MOD:00660.


name: NEDD4 family-interacting protein 1 isoform 1 (human)

description: A NEDD4 family-interacting protein 1 isoform 1 that is encoded in the genome of human.


name: RNA-binding protein EWS isoform EWS (human)

description: An RNA-binding protein EWS (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:Q01844-1.


name: laminin subunit gamma-2 isoform Short (human)

description: A laminin subunit gamma-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:Q13753-2.


name: laminin subunit gamma-2 isoform Long (human)

description: A laminin subunit gamma-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:Q13753-1.


name: laminin subunit gamma-2, signal peptide removed form (human)

description: A laminin subunit gamma-2 (human) that has had the signal peptide removed. UniProtKB:Q13753, 22-1193.


name: Bladder Non-Invasive Papillary Urothelial Carcinoma, High Grade

description: Bladder non-invasive papillary urothelial carcinoma characterized by marked architectural and cytologic abnormalities and frequent mitotic figures (at all levels of the urothelium).


name: Stage 0a Renal Pelvis and Ureter Cancer AJCC v7

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


name: Bladder Urothelial Proliferation of Uncertain Malignant Potential

description: Marked thickening of the bladder urothelium with minimal or absent cytologic atypia and absence of true papillary formations. It is found most commonly on routine follow-up cystoscopy in patients with a history of papillary urothelial neoplasms. (WHO 2016)


Stage 0a Bladder Cancer AJCC v8

description: Stage 0a includes: Ta, N0, M0. Ta: Non-invasive papillary carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0 Renal Pelvis and Ureter Cancer AJCC v7

description: Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0).  Ta: Papillary noninvasive carcinoma. Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


name: Bladder Non-Invasive Urothelial Neoplasm

description: A non-invasive neoplasm that arises from the urothelial lining of the bladder.


Stage 0is Renal Pelvis Cancer AJCC v8

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


name: Non-invasive papillary urothelial carcinoma, high-grade

description: A non-invasive papillary urothelial carcinoma characterized by marked architectural and cytologic abnormalities and frequent mitotic figures (at all levels of the urothelium). It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract.


Stage 0is Bladder Cancer AJCC v8

description: Stage 0is includes: Tis, N0, M0. Tis: Urothelial carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0a Renal Pelvis and Ureter Cancer AJCC v8

description: Stage 0a includes: Ta, N0, M0. Ta: Papillary noninvasive carcinoma. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


name: Stage 0is Renal Pelvis and Ureter Cancer AJCC v8


name: Stage 0is Renal Pelvis and Ureter Cancer AJCC v7

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


name: Non-invasive papillary urothelial carcinoma, low-grade

description: A non-invasive papillary urothelial carcinoma characterized by minimal cytologic atypia and infrequent mitotic figures (usually limited to the lower half of the tumor). It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract. This type of carcinoma recurs frequently, may invade the urinary tract wall, and has a low risk of progression.


bladder flat intraepithelial lesion

description: A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ.


name: Recurrent Bladder Non-Invasive Papillary Urothelial Carcinoma, Low Grade

description: The reemergence of bladder non-invasive papillary urothelial carcinoma, low grade, after a period of remission.


name: Early Stage Bladder Urothelial Carcinoma

description: Bladder urothelial carcinoma confined to the lining of the bladder.


name: Papillary Urothelial Neoplasm of Low Malignant Potential

description: A papillary neoplasm of the urothelium. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. It usually occurs in the urinary bladder, but it can arise from other sites in the urinary tract. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.


name: Non-invasive papillary urothelial carcinoma of bladder

description: Papillary urothelial neoplastic proliferation in the bladder with some level of cytological and architectural disorder visible at low to intermediate magnification, with no invasion beyond the basement membrane (Ta). (WHO 2016)


name: Bladder Non-Invasive Papillary Urothelial Carcinoma, Low Grade

description: Bladder non-invasive papillary urothelial carcinoma characterized by minimal cytologic atypia and infrequent mitotic figures (usually limited to the lower half of the tumor). This type of carcinoma recurs frequently, may invade the bladder wall, and has a low risk of progression.


name: vacuolar protein sorting-associated protein 8 homolog isoform h1 (human)

description: A vacuolar protein sorting-associated protein 8 homolog (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:Q8N3P4-1.


name: vacuolar protein sorting-associated protein 8 homolog deaminated 1 (human)

description: A vacuolar protein sorting-associated protein 8 homolog (human) that has been deaminated on the residue at the position equivalent to Gln-1417 of the amino acid sequence represented by UniProtKB:Q8N3P4-1. Example: UniProtKB:Q8N3P4-1, Gln-1417, MOD:00685.


name: vacuolar protein sorting-associated protein 8 homolog isoform h3 (human)

description: A vacuolar protein sorting-associated protein 8 homolog (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:Q8N3P4-3.


name: vacuolar protein sorting-associated protein 8 homolog isoform h2 (human)

description: A vacuolar protein sorting-associated protein 8 homolog (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:Q8N3P4-2.


name: vacuolar protein sorting-associated protein 8 homolog deaminated 3 (human)

description: A vacuolar protein sorting-associated protein 8 homolog (human) that has been deaminated on the residue at the position equivalent to Gln-1195 of the amino acid sequence represented by UniProtKB:Q8N3P4-1. Example: UniProtKB:Q8N3P4-1, Gln-1195, MOD:00685.


name: vacuolar protein sorting-associated protein 8 homolog deaminated 2 (human)

description: A vacuolar protein sorting-associated protein 8 homolog (human) that has been deaminated on the residue at the position equivalent to Asn-115 of the amino acid sequence represented by UniProtKB:Q8N3P4-1. Example: UniProtKB:Q8N3P4-1, Asn-115, MOD:00684.


name: piggyBac transposable element-derived protein 5 isoform h1 (human)

description: A piggyBac transposable element-derived protein 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N414-1.


name: piggyBac transposable element-derived protein 5 isoform h2 (human)

description: A piggyBac transposable element-derived protein 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N414-2.


name: E3 ubiquitin-protein ligase HECTD3 phosphorylated 1 (human)

description: An E3 ubiquitin-protein ligase HECTD3 (human) that has been phosphorylated on the residue at the position equivalent to Ser-449 of the amino acid sequence represented by UniProtKB:Q5T447-1. Example: UniProtKB:Q5T447-1, Ser-449, MOD:00046.


name: alpha-2-HS-glycoprotein N-glycosylated 28 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G94917XT. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G94917XT.


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


name: alpha-2-HS-glycoprotein O-glycosylated 24 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-270 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Thr-270, MOD:00005~GNO:G43417UB.


name: alpha-2-HS-glycoprotein O-glycosylated 22 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-270 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G17015OC. Example: UniProtKB:P02765-1, Thr-270, MOD:00005~GNO:G17015OC.


name: alpha-2-HS-glycoprotein N-glycosylated 14 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G95865ZB. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G95865ZB.


name: alpha-2-HS-glycoprotein O-glycosylated 20 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-197 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Thr-197, MOD:00005~GNO:G43417UB.


name: alpha-2-HS-glycoprotein N-glycosylated 1 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G00912UN.


name: alpha-2-HS-glycoprotein O-glycosylated 8 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-280 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P02765-1, Ser-280, MOD:00002~GNO:G53434XO.


name: alpha-2-HS-glycoprotein N-glycosylated 4 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G10486CT.


name: alpha-2-HS-glycoprotein acetylated 1 (human)

description: An alpha-2-HS-glycoprotein (human) that has been acetylated on the residue at the position equivalent to Lys-218 of the amino acid sequence represented by UniProtKB:P02765. UniProtKB:P02765, Lys-218, MOD:00723.


name: alpha-2-HS-glycoprotein O-glycosylated 15 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-346 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G17015OC. Example: UniProtKB:P02765-1, Ser-346, MOD:00002~GNO:G17015OC.


name: alpha-2-HS-glycoprotein N-glycosylated 2 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G06247RL.


name: alpha-2-HS-glycoprotein N-glycosylated 9 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G59626AS.


name: alpha-2-HS-glycoprotein O-glycosylated 9 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-293 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02765-1, Ser-293, MOD:00002~GNO:G29068FM.


name: alpha-2-HS-glycoprotein N-glycosylated 3 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G08293MJ.


name: alpha-2-HS-glycoprotein O-glycosylated 18 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-346 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P02765-1, Ser-346, MOD:00002~GNO:G59626AS.


name: alpha-2-HS-glycoprotein O-glycosylated 13 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-328 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02765-1, Ser-328, MOD:00002~GNO:G29068FM.


name: alpha-2-HS-glycoprotein N-glycosylated 20 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G27947YN.


name: alpha-2-HS-glycoprotein O-glycosylated 5 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-280 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02765-1, Ser-280, MOD:00002~GNO:G29068FM.


name: alpha-2-HS-glycoprotein O-glycosylated 23 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-270 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G23729WG. Example: UniProtKB:P02765-1, Thr-270, MOD:00005~GNO:G23729WG.


name: alpha-2-HS-glycoprotein N-glycosylated 19 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G22140GZ.


name: alpha-2-HS-glycoprotein O-glycosylated 10 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-293 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Ser-293, MOD:00002~GNO:G43417UB.


name: alpha-2-HS-glycoprotein O-glycosylated 21 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-202 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Thr-202, MOD:00005~GNO:G43417UB.


name: alpha-2-HS-glycoprotein N-glycosylated 27 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G88374WZ.


name: alpha-2-HS-glycoprotein N-glycosylated 8 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G40926MX. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G40926MX.


name: alpha-2-HS-glycoprotein methylated 1 (human)

description: An alpha-2-HS-glycoprotein (human) that has been methylated on the residue at the position equivalent to Cys-219 of the amino acid sequence represented by UniProtKB:P02765. UniProtKB:P02765, Cys-219, MOD:00660.


name: alpha-2-HS-glycoprotein N-glycosylated 22 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G36131WL. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G36131WL.


name: alpha-2-HS-glycoprotein N-glycosylated 11 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G85144OK. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G85144OK.


name: alpha-2-HS-glycoprotein O-glycosylated 7 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-280 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Ser-280, MOD:00002~GNO:G43417UB.


name: alpha-2-HS-glycoprotein O-glycosylated 16 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-346 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02765-1, Ser-346, MOD:00002~GNO:G29068FM.


name: alpha-2-HS-glycoprotein O-glycosylated 1 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-196 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Ser-196, MOD:00002~GNO:G43417UB.


name: alpha-2-HS-glycoprotein O-glycosylated 25 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-270 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P02765-1, Thr-270, MOD:00005~GNO:G65562ZE.


name: alpha-2-HS-glycoprotein O-glycosylated 12 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-325 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Ser-325, MOD:00002~GNO:G43417UB.


name: alpha-2-HS-glycoprotein N-glycosylated 18 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G10486CT.


name: alpha-2-HS-glycoprotein N-glycosylated 10 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G84467IZ. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G84467IZ.


name: alpha-2-HS-glycoprotein O-glycosylated 3 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-256 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P02765-1, Ser-256, MOD:00002~GNO:G65562ZE.


name: alpha-2-HS-glycoprotein N-glycosylated 17 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G08293MJ.


name: alpha-2-HS-glycoprotein N-glycosylated 23 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G54992WG. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G54992WG.


name: alpha-2-HS-glycoprotein N-glycosylated 26 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G85144OK. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G85144OK.


name: alpha-2-HS-glycoprotein N-glycosylated 5 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G22140GZ.


name: alpha-2-HS-glycoprotein O-glycosylated 6 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-280 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G40740AD. Example: UniProtKB:P02765-1, Ser-280, MOD:00002~GNO:G40740AD.


name: alpha-2-HS-glycoprotein O-glycosylated 14 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-328 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Ser-328, MOD:00002~GNO:G43417UB.


name: alpha-2-HS-glycoprotein O-glycosylated 17 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-346 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Ser-346, MOD:00002~GNO:G43417UB.


name: alpha-2-HS-glycoprotein N-glycosylated 16 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G06247RL.


name: alpha-2-HS-glycoprotein N-glycosylated 25 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G84467IZ. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G84467IZ.


name: alpha-2-HS-glycoprotein O-glycosylated 2 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-256 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G17015OC. Example: UniProtKB:P02765-1, Ser-256, MOD:00002~GNO:G17015OC.


name: alpha-2-HS-glycoprotein N-glycosylated 24 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G59626AS.


name: alpha-2-HS-glycoprotein O-glycosylated 4 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-280 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G27391WQ. Example: UniProtKB:P02765-1, Ser-280, MOD:00002~GNO:G27391WQ.


name: alpha-2-HS-glycoprotein N-glycosylated 15 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G00912UN.


name: alpha-2-HS-glycoprotein O-glycosylated 19 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-346 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P02765-1, Ser-346, MOD:00002~GNO:G65562ZE.


name: alpha-2-HS-glycoprotein phosphorylated 1 (human)

description: An alpha-2-HS-glycoprotein (human) that has been phosphorylated on the residue at the position equivalent to Ser-138 of the amino acid sequence represented by UniProtKB:P02765. UniProtKB:P02765, Ser-138, MOD:00046.


name: alpha-2-HS-glycoprotein N-glycosylated 21 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G29068FM.


name: alpha-2-HS-glycoprotein N-glycosylated 13 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G94917XT. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G94917XT.


name: alpha-2-HS-glycoprotein N-glycosylated 12 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G88374WZ.


name: alpha-2-HS-glycoprotein O-glycosylated 11 (human)

description: An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-325 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02765-1, Ser-325, MOD:00002~GNO:G29068FM.


name: alpha-2-HS-glycoprotein N-glycosylated 6 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G27947YN.


name: alpha-2-HS-glycoprotein N-glycosylated 7 (human)

description: An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G36131WL. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G36131WL.


name: myotubularin-related protein 6 methylated 1 (human)

description: A myotubularin-related protein 6 (human) that has been methylated on the residue at the position equivalent to Cys-88 of the amino acid sequence represented by UniProtKB:Q9Y217-1. Example: UniProtKB:Q9Y217-1, Cys-88, MOD:00660.


anterior cranial fossa meningioma

description: A meningioma that affects the anterior cranial fossa.


olfactory groove meningioma

description: A meningioma that affects the olfactory sulcus.


cavernous sinus meningioma

description: A meningioma that affects the cavernous sinus.


name: progesterone-induced-blocking factor 1 isoform h1 (human)

description: A progesterone-induced-blocking factor 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:Q8WXW3-1.


cyclin-G1 methylated 3 (human)

A cyclin-G1 (human) that has been methylated on the residue at the position equivalent to Cys-146 of the amino acid sequence represented by UniProtKB:P51959-1. Example: UniProtKB:P51959-1, Cys-146, MOD:00660.


name: patched domain-containing protein 4 isoform h4 (human)

description: A patched domain-containing protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6ZW05-4.


name: patched domain-containing protein 4 phosphorylated 2 (human)

description: A patched domain-containing protein 4 (human) that has been phosphorylated on the residue at the position equivalent to Ser-260 of the amino acid sequence represented by UniProtKB:Q6ZW05-1. Example: UniProtKB:Q6ZW05-1, Ser-260, MOD:00046.


name: patched domain-containing protein 4 phosphorylated 1 (human)

description: A patched domain-containing protein 4 (human) that has been phosphorylated on the residue at the position equivalent to Ser-516 of the amino acid sequence represented by UniProtKB:Q6ZW05-1. Example: UniProtKB:Q6ZW05-1, Ser-516, MOD:00046.


name: patched domain-containing protein 4 isoform h3 (human)

description: A patched domain-containing protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6ZW05-3.


name: patched domain-containing protein 4 isoform h1 (human)

description: A patched domain-containing protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6ZW05-1.


name: patched domain-containing protein 4 isoform h2 (human)

description: A patched domain-containing protein 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6ZW05-2.


A hexachlorobiphenyl that is biphenyl in which both of the phenyl rings are substituted at positons 2, 4, and 6 by chlorines.


name: DNA-directed RNA polymerase II subunit RPB7 methylated 1 (human)

description: A DNA-directed RNA polymerase II subunit RPB7 (human) that has been methylated on the residue at the position equivalent to Cys-38 of the amino acid sequence represented by UniProtKB:P62487. UniProtKB:P62487, Cys-38, MOD:00660.


name: DNA-directed RNA polymerase II subunit RPB7 glutathionylated 1 (human)

description: A DNA-directed RNA polymerase II subunit RPB7 (human) that has been glutathionylated on the residue at the position equivalent to Cys-127 of the amino acid sequence represented by UniProtKB:P62487. UniProtKB:P62487, Cys-127, MOD:00234.


name: DNA-directed RNA polymerase II subunit RPB7 isoform 1 (human)

description: A DNA-directed RNA polymerase II subunit RPB7 isoform 1 that is encoded in the genome of human.


name: DNA-directed RNA polymerase II subunit RPB7 cysteinylated 1 (human)

description: A DNA-directed RNA polymerase II subunit RPB7 (human) that has been cysteinylated on the residue at the position equivalent to Cys-38 of the amino acid sequence represented by UniProtKB:P62487. UniProtKB:P62487, Cys-38, MOD:00765.


name: DNA-directed RNA polymerase II subunit RPB7 methylated 2 (human)

description: A DNA-directed RNA polymerase II subunit RPB7 (human) that has been methylated on the residue at the position equivalent to Cys-106 of the amino acid sequence represented by UniProtKB:P62487. UniProtKB:P62487, Cys-106, MOD:00660.


name: RNA-binding protein 24 isoform 1 (human)

description: An RNA-binding protein 24 isoform 1 that is encoded in the genome of human.


name: RNA-binding protein 24 isoform h2 (human)

description: An RNA-binding protein 24 (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:Q9BX46-2.


name: RNA-binding protein 24 deaminated 1 (human)

description: An RNA-binding protein 24 (human) that has been deaminated on the residue at the position equivalent to Gln-159 of the amino acid sequence represented by UniProtKB:Q9BX46-1. Example: UniProtKB:Q9BX46-1, Gln-159, MOD:00685.


name: RNA-binding protein 24 isoform h3 (human)

description: An RNA-binding protein 24 (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:Q9BX46-5.


name: Myeloid/lymphoid neoplasm with FLT3 rearrangement

description: Hematologic neoplasms characterized by the rearrangement of the FLT3 gene, most often resulting in the formation of t(12;13)(p13.2;q12.2)/ETV6-FLT3 fusion transcripts. Patients usually present with T-ALL or myeloid sarcoma.


cortisone reductase deficiency 2

description: Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.


sesquisabinene B

A sesquiterpene that consists of (1R,5R)-2-methylidenebicyclo[3.1.0]hexane having a (2S)-6-methylhept-5-en-2-yl group attached at position 5.


name: angiopoietin-1 receptor isoform h2 (human)

description: An angiopoietin-1 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:Q02763-2.


O-phospho-D-serine

The D-enantiomer of O-phosphoserine.


iron(3+) phosphate

An inorganic phosphate having Fe(3+) as the counterion.


RNA-binding protein FXR2

A fragile X-related protein that is a translation product of the human FXR2 gene or a 1:1 ortholog thereof.


name: 1alpha,25-dihydroxy-26,27-dimethyl-22-oxavitamin D3 / 1alpha,25-dihydroxy-26,27-dimethyl-22-oxacholecalciferol


benign myoepithelioma of salivary gland

description: A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter.


autosomal dominant coarctation of aorta

description: Autosomal dominant form of aorta coarctation.


thiazolidinemonocarboxylic acid

A thiazolidine or thiazolidine derivative carrying a single carboxy substituent.


timonacic

An alpha-amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of thioproline; major species at pH 7.3.


name: zinc finger HIT domain-containing protein 2

description: A protein that is a translation product of the human ZNHIT2 gene or a 1:1 ortholog thereof.


name: inactive phospholipase C-like protein 2 isoform h1 (human)

description: An inactive phospholipase C-like protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UPR0-1.


name: triggering receptor expressed on myeloid cells 1, signal peptide removed form (human)

description: A triggering receptor expressed on myeloid cells 1 (human) that has had the signal peptide removed. UniProtKB:Q9NP99, 21-234.


name: CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1 (human)

description: A CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1 that is encoded in the genome of human.


name: RNA cytidine acetyltransferase isoform h2 (human)

description: An RNA cytidine acetyltransferase (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:Q9H0A0-2.


name: zinc finger protein RFP isoform Beta (human)

description: A zinc finger protein RFP (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:P14373-2.


zinc finger protein RFP

A tripartite motif-containing protein that is a translation product of the human TRIM27 gene or a 1:1 ortholog thereof.


name: zinc finger protein RFP isoform Alpha (human)

description: A zinc finger protein RFP isoform 1 that is encoded in the genome of human.


name: zinc finger protein RFP cysteinylated 1 (human)

description: A zinc finger protein RFP (human) that has been cysteinylated on the residue at the position equivalent to Cys-19 of the amino acid sequence represented by UniProtKB:P14373-1. Example: UniProtKB:P14373-1, Cys-19, MOD:00765.


name: paired box protein Pax-8 isoform 3 (human)

description: A paired box protein Pax-8 isoform 3 that is encoded in the genome of human.


name: paired box protein Pax-8 isoform 4 (human)

description: A paired box protein Pax-8 isoform 4 that is encoded in the genome of human.


name: paired box protein Pax-8 isoform h5 (human)

description: A paired box protein Pax-8 (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:Q06710-5.


name: paired box protein Pax-8 isoform 2 (human)

description: A paired box protein Pax-8 isoform 2 that is encoded in the genome of human.


name: paired box protein Pax-8 isoform 1 (human)

description: A paired box protein Pax-8 isoform 1 that is encoded in the genome of human.


Malposition of heart and cardiac apex

description: Any anatomical misplacement of the heart and cardiac apex such that the organ occupies an unusual location within the body.


fibromatosis, gingival, 1

description: Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene.


tumor protein 63 isoform h10 (human)

A tumor protein 63 (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:Q9H3D4-10.


name: pleckstrin homology domain-containing family F member 2 cysteinylated 1 (human)

description: A pleckstrin homology domain-containing family F member 2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-21 of the amino acid sequence represented by UniProtKB:Q9H8W4. UniProtKB:Q9H8W4, Cys-21, MOD:00765.


name: pleckstrin homology domain-containing family F member 2

description: A protein that is a translation product of the human PLEKHF2 gene or a 1:1 ortholog thereof.


name: serine/threonine-protein kinase receptor R3 sequence variant F425del (human)

description: A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-423, 425-503.


kelch-like protein 23 isoform 1 (human)

A kelch-like protein 23 isoform 1 that is encoded in the genome of human.


name: nuclear factor of activated T-cells, cytoplasmic 1 phosphorylated 2 (human)

description: A nuclear factor of activated T-cells, cytoplasmic 1 (human) that has been post-translationally modified to include phosphoserine at positions 175, 176, 178, 179, 181, 233, 237, 241, 257, 278, 286 and 290 of the amino acid sequence represented by UniProtKB:O95644. UniProtKB:O95644, Ser-175/Ser-176/Ser-178/Ser-179/Ser-181/Ser-233/Ser-237/Ser-241/Ser-257/Ser-278/Ser-286/Ser-290, MOD:00046.


name: little elongation complex subunit 2 isoform h2 (human)

description: A little elongation complex subunit 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:Q659A1-2.


name: little elongation complex subunit 2 isoform h1 (human)

description: A little elongation complex subunit 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:Q659A1-1.


name: tubulin-specific chaperone E isoform h1 (human)

description: A tubulin-specific chaperone E (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:Q15813-1.


name: tubulin-specific chaperone E isoform h2 (human)

description: A tubulin-specific chaperone E (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:Q15813-2.


DIMBOA glucoside

A cyclic hydroxamic acid that is  DIMBOA attached to a beta-D-glucopyranosyl residue at position 2 via a glycosidic linkage.


name: lateral signaling target protein 2 homolog isoform h6 (human)

description: A lateral signaling target protein 2 homolog (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:Q9HCC9-6.


Scrotal Sebaceous Cyst

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

description: A firm nodule on the skin of the scrotum that is caused by an accumulation of sebum resulting from sebaceous gland blockage.


name: dendritic cell-specific transmembrane protein isoform h2 (human)

description: A dendritic cell-specific transmembrane protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H295-2.


name: dendritic cell-specific transmembrane protein isoform h1 (human)

description: A dendritic cell-specific transmembrane protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H295-1.


large ribosomal subunit protein bL9m

A protein that is a translation product of the human MRPL9 gene or a 1:1 ortholog thereof.


name: large ribosomal subunit protein bL9m methylated 1 (human)

description: A large ribosomal subunit protein bL9m (human) that has been methylated on the residue at the position equivalent to Cys-221 of the amino acid sequence represented by UniProtKB:Q9BYD2. UniProtKB:Q9BYD2, Cys-221, MOD:00660.


name: superkiller complex protein 8 methylated 1 (human)

description: A superkiller complex protein 8 (human) that has been methylated on the residue at the position equivalent to Cys-241 of the amino acid sequence represented by UniProtKB:Q9GZS3. UniProtKB:Q9GZS3, Cys-241, MOD:00660.


Intratubular malignant germ cells

description: A non-invasive lesion of the testis, characterized by the presence of malignant large germ cells with abundant cytoplasm in the seminiferous tubules. It may be associated with undescended or atrophic testis and infertility. The vast majority of cases progress to invasive germ cell tumors.


name: Testicular Cancer by AJCC v6 and v7 Stage

description: A term that refers to the staging of testicular cancer according to the American Joint Committee on Cancer, 6th and 7th editions.


name: Stage IB Testicular Cancer AJCC v6 and v7

description: Stage IB includes: (pT2, N0, M0, S0); (pT3, N0, M0, S0); (pT4, N0, M0, S0).  pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis.  pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion.  pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


name: Stage IIB Testicular Cancer AJCC v6 and v7

description: Stage IIB includes: (Any pT/TX, N2, M0, S0); (Any pT/TX, N2, M0, S1).  pTX: Primary tumor cannot be assessed.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


name: Stage I Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7

description: Stage I includes: pT1-4, N0, M0, SX.  pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis.  pT2: Tumor limited to the testis and epididymis with vascular/lymphatic invasion, or tumor extending through the tunica albuginea with involvement of the tunica vaginalis.  pT3: Tumor invades the spermatic cord with or without vascular/lymphatic invasion.  pT4: Tumor invades the scrotum with or without vascular/lymphatic invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  SX: Marker studies not available or not performed. (AJCC 6th and 7th eds.)


name: Stage IA Testicular Cancer AJCC v6 and v7

description: Stage IA includes: pT1, N0, M0, S0.  pT1: Tumor limited to the testis and epididymis without vascular/lymphatic invasion; tumor may invade into the tunica albuginea but not the tunica vaginalis.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


name: Stage IIIB Testicular Cancer AJCC v6 and v7

description: Stage IIIB includes: (Any pT/TX, N1-3, M0, S2); (Any pT/TX, Any N, M1a, S2).  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. M1a: Non-regional nodal or pulmonary metastasis. S2: LDH 1.5-10 x N (N indicates the upper limit of normal for the LDH assay) or hCG 5,000-50,000 or AFP 1,000-10,000.  (AJCC 6th and 7th eds.)


name: Stage IIA Testicular Cancer AJCC v6 and v7

description: Stage IIA includes: (Any pT/TX, N1, M0, S0); (Any pT/TX, N1, M0, S1).  pTX: Primary tumor cannot be assessed.  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000. (AJCC 6th and 7th eds.)


Intratubular Seminoma

description: Intratubular germ cell neoplasia characterized by the complete filling of the seminiferous tubules by seminoma cells.


name: Stage IIIC Testicular Cancer AJCC v6 and v7

description: Stage IIIC includes: (Any pT/TX, N1-3, M0, S3); (Any pT/TX, Any N, M1a, S3); (Any pT/TX, Any N, M1b, Any S).  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. M1a: Non-regional nodal or pulmonary metastasis.  M1b: Distant metastasis other than to non-regional lymph nodes and lung.  S3: LDH more than 10 x N (N indicates the upper limit of normal for the LDH assay) or hCG more than 50,000 or AFP more than 10,000. (AJCC 6th and 7th eds.)


name: Testicular germ cell tumor mixed stage III

description: Stage III includes: Any pT/TX, Any N, M1, SX.  M1: Distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


name: Stage II Testicular Seminoma AJCC v6 and v7

description: Stage II includes: Any pT/TX, N1-3, M0, SX.  pTX: Primary tumor cannot be assessed.  N1: Metastasis with a lymph node mass 2 cm or less in greatest dimension; or multiple lymph nodes, none more than 2cm in greatest dimension.  N2: Metastasis with a lymph node mass more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, any one mass greater than 2 cm but not more than 5 cm in greatest dimension.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. SX: Marker studies not available or not performed.  (AJCC 6th and 7th eds.)


name: Stage IIC Testicular Cancer AJCC v6 and v7

description: Stage IIC includes: (Any pT/TX, N3, M0, S0); (Any pT/TX, N3, M0, S1).  pTX: Primary tumor cannot be assessed.  N3: Metastasis with a lymph node mass more than 5 cm in greatest dimension. M0: No distant metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


name: Stage III Testicular Cancer AJCC v6 and v7


name: Stage III Testicular Seminoma AJCC v6 and v7


name: Stage 0 Testicular Cancer AJCC v6 and v7

description: Stage 0 includes: pTis, N0, M0, S0.  pTis: Intratubular germ cell neoplasia (carcinoma in situ).  N0: regional lymph node metastasis.  M0: No distant metastasis.  S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.)


name: Stage I Testicular Cancer AJCC v6 and v7


name: Stage IS Testicular Cancer AJCC v6 and v7

description: Stage IS includes: Any pT/TX, N0, M0, S1-3.  pTX: Primary tumor cannot be assessed.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  S2: LDH 1.5-10 x N or hCG 5,000-50,000 or AFP 1,000-10,000.  S3: LDH more than 10 x N or hCG more than 50,000 or AFP more than 10,000. (AJCC 6th and 7th eds.)


Intratubular Embryonal Carcinoma

description: Intratubular germ cell neoplasia characterized by the filling of the seminiferous tubules by embryonal carcinoma cells. Central necrosis and calcifications are often present.


name: Testicular germ cell tumor mixed stage I


name: Stage II Testicular Cancer AJCC v6 and v7


name: Stage IIIA Testicular Cancer AJCC v6 and v7

description: Stage IIIA includes: (Any pT/TX, Any N, M1a, S0); (Any pT/TX, Any N, M1a, S1).  M1a: Non-regional nodal or pulmonary metastasis. S0: Marker study levels within normal limits. S1: LDH less than 1.5 x N (N indicates the upper limit of normal for the LDH assay) and hCG less than 5,000 and AFP less than 1,000.  (AJCC 6th and 7th eds.)


name: Stage II Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7


name: Testicular embryonal carcinoma stage III


name: Testicular germ cell tumor mixed stage II


name: Stage III Testicular Non-Seminomatous Germ Cell Tumor AJCC v6 and v7


protein polybromo-1 isoform 2 (human)

A protein polybromo-1 isoform 2 that is encoded in the genome of human.


myosin-IIIb isoform h2 (human)

A myosin-IIIb (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:Q8WXR4-2.


fucosidosis

description: Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.


A  3-acyl-sn-glycerol where arachidonoyl is the 3-acyl group.


Bone Hibernoma

description: A benign neoplasm that is composed of brown adipocytes and arises within or on the surface of bone.


name: NACHT, LRR and PYD domains-containing protein 1 isoform h1 (human)

description: A NACHT, LRR and PYD domains-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:Q9C000-1.


name: ATP-binding cassette sub-family C member 2 sequence variant I1173F (human)

description: An ATP-binding cassette sub-family C member 2 (human) that has a Phe residue at the position equivalent to Ile-1173 of the amino acid sequence represented by UniProtKB:Q92887. UniProtKB:Q92887, Ile-1173, CHEBI:29997.


name: ATP-binding cassette sub-family C member 2 sequence variant R1150H (human)

description: An ATP-binding cassette sub-family C member 2 (human) that has a His residue at the position equivalent to Arg-1150 of the amino acid sequence represented by UniProtKB:Q92887. UniProtKB:Q92887, Arg-1150, CHEBI:29979.


name: ATP-binding cassette sub-family C member 2 phosphorylated 1 (human)

description: An ATP-binding cassette sub-family C member 2 (human) that has been phosphorylated on the residue at the position equivalent to Thr-902 of the amino acid sequence represented by UniProtKB:Q92887. UniProtKB:Q92887, Thr-902, MOD:00047.


name: ATP-binding cassette sub-family C member 2 cysteinylated 1 (human)

description: An ATP-binding cassette sub-family C member 2 (human) that has been cysteinylated on the residue at the position equivalent to Cys-544 of the amino acid sequence represented by UniProtKB:Q92887. UniProtKB:Q92887, Cys-544, MOD:00765.


name: ATP-binding cassette sub-family C member 2 sequence variant R768W (human)

description: An ATP-binding cassette sub-family C member 2 (human) that has a Trp residue at the position equivalent to Arg-768 of the amino acid sequence represented by UniProtKB:Q92887. UniProtKB:Q92887, Arg-768, CHEBI:29954.


name: lanosterol 14-alpha demethylase isoform 1 (human)

description: A lanosterol 14-alpha demethylase isoform 1 that is encoded in the genome of human.


name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1

description: A protein that is a translation product of the human B3GNTL1 gene or a 1:1 ortholog thereof.


name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 cysteinylated 1 (human)

description: A UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-332 of the amino acid sequence represented by UniProtKB:Q67FW5. UniProtKB:Q67FW5, Cys-332, MOD:00765.


name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 methylated 1 (human)

description: A UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1 (human) that has been methylated on the residue at the position equivalent to Cys-332 of the amino acid sequence represented by UniProtKB:Q67FW5. UniProtKB:Q67FW5, Cys-332, MOD:00660.


name: max dimerization protein 3 isoform h2 (human)

description: A max dimerization protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9BW11-2.


name: Inappropriate Sinus Tachycardia Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

description: Inappropriate sinus tachycardia at rest with heart rate  greater than 100 bpm that cannot be explained by any identifiable cause, including anemia, hypoxia, hypotension, or fever that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.