positive regulation of protein glutathionylation

Any process that increases the rate, frequency, or extent of protein glutathionylation. Protein glutathionylation is the protein modification process in which a glutathione molecule is added to a protein amino acid through a disulfide linkage.


positive regulation of mitochondrial translational initiation

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Any process that activates or increases the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion.


regulation of plasma kallikrein-kinin cascade

Any process that modulates the frequency, rate, or extent of the plasma kallikrein-kinin cascade.


negative regulation of blood coagulation, extrinsic pathway

Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation, extrinsic pathway.


negative regulation of mitochondrial translational elongation

Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation.


negative regulation of translation in response to endoplasmic reticulum stress

Any process that stops, prevents, or reduces the frequency, rate or extent of translation as a result of endoplasmic reticulum stress.


positive regulation of protein neddylation

Any process that activates or increases the frequency, rate or extent of protein neddylation.


negative regulation of lymphotoxin A production

Any process that stops, prevents, or reduces the frequency, rate, or extent of lymphotoxin A production.


regulation of CD86 production

Any process that modulates the frequency, rate or extent of CD86 biosynthetic process.


negative regulation of selenocysteine incorporation

Any process that stops, prevents or reduces the frequency, rate or extent of selenocysteine incorporation.


negative regulation of translation in response to osmotic stress

Any process that stops, prevents or reduces the rate of translation as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell.


regulation of N-terminal peptidyl-serine acetylation

Any process that modulates the frequency, rate or extent of N-terminal peptidyl-serine acetylation.


regulation of translational frameshifting

Any process that modulates the frequency, rate or extent of translational frameshifting.


positive regulation of translation in response to osmotic stress

Any process that activates or increases the frequency, rate or extent of translation as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell.


regulation of Toll receptor ligand protein activation cascade

Any process that modulates the frequency, rate or extent of the Toll receptor ligand protein activation cascade.


ribosome hibernation

A cellular process that results in the silencing of ribosomes in quiescent cells. Quiescence takes place when cells encounter unfavorable conditions and cease to grow in bacteria and yeast. It also takes place in some specialized cells in higher eukaryotes, such as eggs. Ribosomes in a hibernation state are kept silent via association with proteins with inhibitory and protective functions.


negative regulation of protein serine/threonine phosphatase activity

Any process that stops, prevents or reduces the frequency, rate or extent of protein serine/threonine phosphatase activity.


regulation of blood coagulation, common pathway

Any process that modulates the frequency, rate or extent of blood coagulation, common pathway.


regulation of protein O-linked glycosylation

Any process that modulates the frequency, rate or extent of protein O-linked glycosylation.


regulation of tubulin deacetylase activity

Any process that modulates the frequency, rate or extent of tubulin deacetylase activity.


negative regulation of blood coagulation, intrinsic pathway

Any process that stops, prevents or reduces the frequency, rate or extent of blood coagulation, intrinsic pathway.


negative regulation of peptidyl-lysine crotonylation

Any process that stops or reduces the rate of crotonylation of a lysine residue in a protein.


positive regulation of chaperone-mediated autophagy

Any process that activates or increases the frequency, rate or extent of chaperone-mediated autophagy.


positive regulation of metalloendopeptidase activity

Any process that activates or increases the frequency, rate or extent of metalloendopeptidase activity.


regulation of translation at synapse, modulating synaptic transmission

Any process that modulates synaptic transmission by regulating translation occurring at the synapse.


negative regulation of protein monoubiquitination

Any process that stops, prevents or reduces the frequency, rate or extent of protein monoubiquitination.


regulation of translation in response to osmotic stress

Any process that modulates the frequency, rate or extent of the frequency, rate or extent of translation as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell.


negative regulation of N-terminal peptidyl-lysine acetylation

Any process that stops, prevents or reduces the frequency, rate or extent of N-terminal peptidyl-lysine acetylation.


positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process

Any process that activates or increases the frequency, rate or extent of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process.


negative regulation of N-terminal protein palmitoylation

Any process that decreases the rate frequency or extent of the covalent attachment of a palmitoyl group to the N-terminal amino acid residue of a protein.


positive regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process

Any process that starts or increases the rate, frequency or extent of SCF-dependent proteasomal ubiquitin-dependent protein catabolic process, the chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by an SCF (Skp1/Cul1/F-box protein) complex, and mediated by the proteasome.


regulation of anaphase-promoting complex-dependent catabolic process

Any process that modulates the frequency, rate or extent of anaphase-promoting complex-dependent catabolic process.


positive regulation of protein desumoylation

Any process that increases the frequency, rate or extent of protein desumoylation. Protein desumoylation is the process in which a SUMO protein (small ubiquitin-related modifier) is cleaved from its target protein.


negative regulation of lysosomal protein catabolic process

Any process that stops, prevents or reduces the frequency, rate or extent of lysosomal protein catabolic process.


negative regulation of aspartic-type peptidase activity

Any process that stops, prevents or reduces the frequency, rate or extent of aspartic-type peptidase activity.


regulation of urea metabolic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving urea.


negative regulation of proteoglycan biosynthetic process

Any process that stops, prevents or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteoglycans, any glycoprotein in which the carbohydrate units are glycosaminoglycans.


negative regulation of urea catabolic process

Any process that stops, prevents or reduces the frequency, rate or extent of urea catabolic process.


negative regulation of CD86 production

Any process that stops, prevents or reduces the frequency, rate or extent of CD86 biosynthetic process.


negative regulation of peptidyl-tyrosine autophosphorylation

Any process that stops, prevents or reduces the frequency, rate or extent of peptidyl-tyrosine autophosphorylation.


negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process

Any process that stops, prevents or reduces the frequency, rate or extent of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process.


regulation of peptide hormone processing

Any process that modulates the rate, frequency or extent of peptide hormone processing. Peptide hormone processing is the generation of a mature peptide hormone by posttranslational processing of a prohormone.


male pseudohermaphroditism due to defective lh molecule

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sodium ion uniporter activity

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Catalysis of the active transport of a sodium ion across a membrane by a mechanism involving conformational change, where energy for active transport is derived from membrane potential if the solute is charged.


membrane potential driven uniporter activity

Enables the active transport of a solute across a membrane by a mechanism involving conformational change, where energy for active transport is derived from membrane potential if the solute is charged.


phosphate ion uniporter activity

Catalysis of the active transport of a phosphate ion across a membrane by a mechanism involving conformational change, where energy for active transport is derived from membrane potential if the solute is charged.


L-glutamate uniporter activity

Catalysis of the active transport of a L-glutamate across a membrane by a mechanism involving conformational change, where energy for active transport is derived from membrane potential if the solute is charged.


potassium ion uniporter activity

Catalysis of the active transport of a potassium ion across a membrane by a mechanism involving conformational change, where energy for active transport is derived from membrane potential if the solute is charged.


purine nucleotide uniporter activity

Catalysis of the active transport of purine nucleotides across a membrane by a mechanism involving conformational change, where energy for active transport is derived from membrane potential if the solute is charged.


envenomation resulting in myocyte killing in another organism

A process that begins with venom being forced into an organism by the bite or sting of another organism, killing heart myocytes and ultimately resulting in muscle damage in the bitten organism.


Hard Palate Squamous Cell Carcinoma

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


Squamous cell carcinoma of palate

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


Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: iodide(out) + Na+(out) = iodide(in) + Na+(in).


sebaceous gland neoplasm

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


sebaceous gland cancer

A cancer that involves the sebaceous gland.


benign neoplasm of sebaceous gland

A benign neoplasm that involves the sebaceous gland.


Catalysis of the reaction:peregrinol diphosphate = (13R)-9,13-epoxylabd-14-ene + diphosphate.


Gastric Granular Cell Tumor

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


Benign Gastric Granular Cell Tumor

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


TARP syndrome

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


protein-phytochromobilin linkage

The linkage of the chromophore phytochromobilin to phycocyanin or allophycocyanin.


protein-phytochromobilin linkage via S-phytochromobilin-L-cysteine

The linkage of the chromophore phytochromobilin to phycocyanin or allophycocyanin via S-phytochromobilin-L-cysteine.


tRNA-dihydrouridine16 synthase activity

Catalysis of the reaction: a 5,6-dihydrouracil16 in tRNA + NAD(P) = H+ + a uracil16 in tRNA + NAD(P)H.


Stage IV Penile Cancer AJCC v6

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


Penile Cancer by AJCC v6 Stage

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


Stage III Penile Cancer AJCC v6

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


Stage I Penile Cancer AJCC v6

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


Stage II Penile Cancer AJCC v6

Stage II includes: (T1, N1, M0); (T2, N0, M0); (T2, N1, M0).  T1: Tumor invades subepithelial connective tissue.  N0: No regional lymph node metastasis.  N1: Metastasis in a single superficial, inguinal lymph node.  M0: No distant metastasis. (AJCC 6th ed.)


Stage 0 Penile Cancer AJCC v6

Stage 0 includes: (Tis, N0, M0) and (Ta, N0, M0).  Tis: Carcinoma in situ.  Ta: Non-invasive verrucous carcinoma.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th ed.)


beta-heterochromatin

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A diffusely banded region of heterochromatin located between euchromatin and alpha-heterochromatin in the polytene chromosome chromocenter; normally replicated during polytenization.


spindle pole body-nuclear membrane anchor activity

The binding activity of a molecule that brings together a mitotic spindle pole body and the nuclear membrane, in order to maintain specific membrane location of the spindle pole body.


acute cholinergic dysautonomia

A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset.


primary dysautonomia

Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.


antebrachial lymph node

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Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: selenite(out) + H+(out) = selenite(in) + H+(in).


cellular response to vitamin B6

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin B6 stimulus. Vitamin B6 encompasses pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate.


response to vitamin B6

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin B6 stimulus. Vitamin B6 encompasses pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate.


UDP-galactose-UDP-N-acetylglucosamine galactose phosphotransferase activity

Catalysis of the reaction: UDP-N-acetyl-alpha-D-glucosamine + UDP-D-galactose = H+ + UDP-N-acetyl-6-(D-galactose-1-phospho)-D-glucosamine + UMP.


chromosome 17p deletion

A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17.


distal 17p13.3 microdeletion syndrome

Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.


chromosome 17q12 deletion syndrome

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.


distal 17p13.1 microdeletion syndrome

Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.


chromosome 17q23.1-q23.2 deletion syndrome

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.


Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome


chromosome 17q11.2 deletion syndrome, 1.4Mb

A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.


partial deletion of the long arm of chromosome 17


hereditary neuropathy with liability to pressure palsies

Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.


distal monosomy 17q

Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2).


17q24.2 microdeletion syndrome

A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.


inherited cutis laxa

An instance of cutis laxa that is inherited.


cutis laxa, autosomal dominant 1

Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene.


autosomal recessive cutis laxa type 2

A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).


ALDH18A1-related de Barsy syndrome

ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.


cutis laxa, autosomal dominant 3

An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.


occipital horn syndrome

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.


cutis laxa, autosomal recessive, type 2E


wrinkly skin syndrome

A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).


acquired cutis laxa

An instance of cutis laxa that is acquired during the lifetime of the individual.


PYCR1-related de Barsy syndrome

Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.


cutis laxa, autosomal recessive, type 1B

An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.


geroderma osteodysplastica

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.


cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13


craniofaciofrontodigital syndrome

Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).


autosomal recessive cutis laxa type 2, classic type


autosomal dominant cutis laxa

Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.


autosomal recessive cutis laxa type 2D

An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.


cutis laxa, autosomal recessive, type 1A

An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.


arterial tortuosity syndrome

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.


autosomal recessive cutis laxa type 2B

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.


RIN2 syndrome

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.


autosomal recessive cutis laxa type 2A

An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.


autosomal recessive cutis laxa type 1

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).


cutis laxa, autosomal dominant 2

Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.


autosomal recessive cutis laxa type 2C

An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.


placental vein

A vein that is part of the placenta.


Paratesticular Leiomyosarcoma

A leiomyosarcoma that arises from the paratesticular region.


pronephric distal early tubule

A distal early tubule that is part of a pronephros.


cellular congenital mesoblastic nephroma

A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present.


microcephaly 22, primary, autosomal recessive


celiac lymph node

The visceral glands that are associated with the branches of the celiac artery, including the gastric, hepatic, and pancreaticolienal (splenic) lymph nodes.


chromosome Xp11.23-p11.22 duplication syndrome

A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.


chromosome X disorder

Chromosomal disorder in which chromosome X is affected.


paternal uniparental disomy of chromosome X


X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.


maternal uniparental disomy of chromosome X


X-linked diffuse leiomyomatosis-Alport syndrome

The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.


partial duplication of the long arm of chromosome X

Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person.


partial monosomy of the short arm of chromosome X


Xq27.3q28 duplication syndrome

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.


X-linked acrogigantism due to Xq26 microduplication


49,XXXYY syndrome

49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.


tetrasomy X

Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).


partial deletion of the long arm of chromosome X


Xq12-q13.3 duplication syndrome

Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.


Xp22.3 microdeletion syndrome

Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.


X small rings

X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.


atypical Norrie disease due to monosomy Xp11.3

Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.


distal Xq28 microduplication syndrome

Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.


X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.


partial duplication of the short arm of chromosome X


Vaginal Germ Cell Tumor

A germ tumor that arises from the vagina.


Vaginal Dermoid Cyst

A rare benign cystic teratoma that arises from the vagina. It presents as a slow growing cyst in the vaginal wall that contains sebaceous material and hair. The cyst is lined by squamous epithelium. Skin adnexal structures and sometimes smooth and skeletal muscle are present.


pedal digit 4 epithelium

An epithelium that is part of a pedal digit 4.


mesonephric glomerular capillary formation

The process that gives rise to a mesonephric glomerular capillary. This process pertains to the initial formation of a structure from unspecified parts.


positive regulation of leukocyte adhesion to arterial endothelial cell

Any process that activates or increases the frequency, rate or extent of leukocyte adhesion to arterial endothelial cell.


positive regulation of leukocyte adhesion to vascular endothelial cell

Any process that activates or increases the frequency, rate or extent of leukocyte adhesion to vascular endothelial cell.


negative regulation of leucine-tRNA ligase activity

Any process that stops, prevents or reduces the frequency, rate or extent of leucine-tRNA ligase activity.


innermost intercostal muscle

The Innermost intercostal muscle is a layer of intercostal muscle beneath the intercostal nerves and internal intercostal muscles. These are divided into transversus thoracis anteriorly, lateral muscle slips laterally and subcostalis posteriorly.


negative regulation of astrocyte activation

Any process that decreases the frequency, rate or extent of astrocyte activation.


modulation by symbiont of host salicylic acid-mediated defense response

Any process in which a symbiont modulates the frequency, rate or extent of the salicylic acid-mediated defense response of the host organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.


symbiont-mediated suppression of defense-related host salicylic acid-mediated signal transduction pathway

A process in which a virus interferes with, inhibits or disrupts a host salicylic acid-mediated signal transduction pathways during the host defense response. The host is defined as the larger of the organisms involved in a symbiotic interaction.


effector-mediated suppression of host salicylic acid-mediated innate immune signaling

A process mediated by a molecule secreted by a symbiont that results in the suppression of host salicylic acid-mediated innate immune signaling.


branch of middle cerebral artery

Any artery arising from the middle cerebral artery.


anterior temporal artery

A branch of the middle cerebral artery that supplies blood to the anterior part of the temporal lobe.


posterior temporal artery

An artery arising from the insular section of the middle cerebral artery that supplies the posterior temporal lobe.


posterior parietal artery

An intracranial artery that supplies the posterior part of the parietal lobe.


anterior parietal artery

The artery that delivers blood to the anterior portion of the parietal lobe.


ocular angle artery

The angular artery is the terminal part of the facial artery; it ascends to the medial angle of the eye's orbit, imbedded in the fibers of the angular head of the Quadratus labii superioris, and accompanied by the angular vein.


posterior auricular nerve

biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A branch of the facial nerve that innervates the posterior auricular and intrinsic muscles of the auricle and, through its occipital branch, innervates the occipital belly of the occipitofrontal muscle.


peptidyl-histidine autophosphorylation

The phosphorylation by a protein of one or more of its own histidine residues, or a histidine residue on an identical protein.


nucleotide diphosphokinase activity

Catalysis of the reaction: ATP + nucleoside 5'-phosphate = AMP + 5'-phosphonucleoside 3'-diphosphate.


Bolwig's organ morphogenesis

The morphogenetic process in which the anatomical structures of the larval eye in Drosophila are generated and organized. The larval eye in Drosophila is a relatively simple sensory system composed of Bolwig's organs: two clusters, each composed of 12 photoreceptor cells from which axons extend in a single fascicle to the brain.


compound eye morphogenesis

The morphogenetic process in which the anatomical structures of the compound eye are generated and organized. The adult compound eye is a precise assembly of 700-800 ommatidia. Each ommatidium is composed of 20 cells, identified by cell type and position. An example of compound eye morphogenesis is found in Drosophila melanogaster.


positive regulation of transcription elongation by RNA polymerase I

Any process that activates or increases the frequency, rate or extent of transcription elongation from RNA polymerase I promoter.


autosomal dominant cerebellar ataxia, deafness and narcolepsy

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.


endoderm of hindgut

An endoderm that is part of a hindgut [Automatically generated definition].


histone H2AXY142 phosphatase activity

Catalysis of the reaction: histone H2AX tyrosine phosphate (position 142) + H2O = histone H2AX tyrosine (position 142) + phosphate.


histone phosphatase activity

Catalysis of the reaction: a phosphorylated histone + H2O = a protein + phosphate.


histone H2AXS140 phosphatase activity

Catalysis of the reaction: histone H2AX serine phosphate (position 140) + H2O = histone H2AX serine (position 140) + phosphate.


Prostatic Pain

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

Pain in the prostate gland.


IgE B cell receptor complex

An IgE immunoglobulin complex that is present in the plasma membrane of B cells and is composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins.


Purkinje myocyte-ventricular cardiac muscle cell adhesion involved in cell communication

The attachment of an Purkinje myocyte to a ventricular cardiac muscle cell via adhesion molecules that results in the cells being juxtaposed so that they can communicate.


MacAB-TolC complex

The MacAB-TolC complex is a macrolide transporter complex found in E.coli and related gram-negative bacteria. Its transport activity is specific to macrolide compounds containing 14- and 15-membered lactones. It consists of the dimeric inner membrane ATPase MacB, the hexameric, periplasmic membrane fusion protein MacA and the trimeric outer membrane factor TolC.


macrolide transmembrane transporter complex

A bacterial transmembrane transporter complex that spans the entire cell membrane system and possesses ATP-dependent xenobiotic transport activity pumping drugs (typically antibiotics) and other toxins directly from the cytosol out of the bacterial cell. Typically, it is trimeric consisting of a inner membrane ATPase (IMP), a periplasmic membrane fusion protein (MFP) and an outer membrane factor (OMF). In E. coli, macrolide transporter complexes may consists of MacB (IMP), MacA (MFP) and TolC (OMF) or AcrB (IMP), AcrA (MFP) and TolC (OMF). Trimeric TolC is a common OMF found in many macrolide transporter complexes.


establishment or maintenance of cytoskeleton polarity involved in mesendodermal cell migration

Any cellular process that results in the specification, formation or maintenance of polarized cytoskeletal structures that contribute to the cell polarity of a migrating mesendodermal cell.


vitamin B2

Any member of a group of vitamers that belong to the chemical structural class called flavins that exhibit biological activity against vitamin B2 deficiency. Symptoms associated with vitamin B2 deficiency include glossitis, seborrhea, angular stomaitis, cheilosis and photophobia. The vitamers include riboflavin and its phosphate derivatives (and includes their salt, ionised and hydrate forms).


protein storage vacuole

A storage vacuole that contains a lytic vacuole; identified in plants.


plant-type vacuole

A closed structure that is completely surrounded by a unit membrane, contains liquid, and retains the same shape regardless of cell cycle phase. An example of this structure is found in Arabidopsis thaliana.


central vacuole

A membrane-enclosed sac that takes up most of the volume of a mature plant cell. Functions include storage, separation of toxic byproducts, and cell growth determination.


senescence-associated vacuole

A lytic vacuole that is maintained at acidic pH and has different tonoplast composition compared to the central vacuole. Found during leaf senescence and develops in the peripheral cytoplasm of cells that contain chloroplast.


Persistent Atrial Fibrillation by ECG Finding

An electrocardiographic tracing demonstrating atrial fibrillation that is present during the entire recording.


glycyrrhetinate catabolic process

The chemical reactions and pathways resulting in the breakdown of glycyrrhetinate.


positive regulation of substance P secretion

Any process that activates or increases the frequency, rate or extent of substance P secretion.


positive regulation of substance P secretion, neurotransmission

Any process that activates or increases the frequency, rate or extent of substance P secretion, neurotransmission.


positive regulation of prolactin secretion

Any process that activates or increases the frequency, rate or extent of prolactin secretion.


positive regulation of thyroid-stimulating hormone secretion

Any process that activates or increases the frequency, rate or extent of thyroid-stimulating hormone secretion.


positive regulation of calcitonin secretion

Any process that activates or increases the frequency, rate or extent of calcitonin secretion.


positive regulation of glucagon secretion

Any process that activates or increases the frequency, rate or extent of the regulated release of glucagon.


excitation of vasomotor center by aortic body chemoreceptor signaling

The process in which the molecular signal from an aortic body is relayed to the vasomotor center, causing it to signal an increase arterial pressure.


excitation of vasomotor center by chemoreceptor signaling

The process in which the molecular signal from the carotid and aortic bodies is relayed to the vasomotor center, causing it to signal an increase arterial pressure.


excitation of vasomotor center by carotid body chemoreceptor signaling

The process in which the molecular signal from a carotid body is relayed to the vasomotor center, causing it to signal an increase arterial pressure.


PMS2 Loss of Nuclear Expression

An indication that expression of PMS2 was not detected in the nuclei of cells in a sample.


primary hyperoxaluria type 2

Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.


negative regulation of dopamine uptake involved in synaptic transmission

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of dopamine into a presynaptic neuron or glial cell.


inhibition of histamine uptake

Any process that prevents the activation of the directed movement of histamine into a cell.


inhibition of serotonin uptake

Any process that prevents the activation of the directed movement of serotonin into a cell.


negative regulation of catecholamine uptake involved in synaptic transmission

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of catecholamine neurotransmitters into a neuron or glial cell.


inhibition of neurotransmitter uptake

Any process that prevents the activation of the directed movement of a neurotransmitter into a cell.


inhibition of norepinephrine uptake

Any process that prevents the activation of the directed movement of norepinephrine into a cell.


negative regulation of gamma-aminobutyric acid uptake involved in transmission of nerve impulse

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate) into a neuron or glial cell.


negative regulation of histamine uptake

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of histamine into a cell.


negative regulation of amino acid uptake involved in synaptic transmission

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amino acid neurotransmitters into a neuron or glial cell.


negative regulation of glutamate uptake involved in transmission of nerve impulse

Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of L-glutamate into a neuron or glial cell.


inhibition of dopamine uptake involved in synaptic transmission

Any process that prevents the activation of the directed movement of dopamine into a cell.


inhibition of acetylcholine uptake

Any process that prevents the activation of the directed movement of acetylcholine into a cell.


Disseminated varicella zoster vaccine virus infection

A rare systemic and life-threatening infection associated with vaccination with the live attenuated strain of the Varicella-zoster virus, Oka.


negative regulation of eosinophil chemotaxis

Any process that stops, prevents or reduces the frequency, rate or extent of eosinophil chemotaxis.


midchain alkane hydroxylase activity

Catalysis of the conversion of an alkane to a secondary alcohol.


spleen secondary B follicle

The nodules of antigen-activated, differentiating B cells, follicular dendritic cells, antigen-presenting T cells and macrophages in the spleen white pulp.


secondary nodular lymphoid tissue

A lymphoid follicle that contains a germinal center.


lymph node secondary follicle

A secondary follicle that is located in a lymph node.


hereditary hypotrichosis with recurrent skin vesicles

Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid.


acquired lactic acidosis

An instance of lactic acidosis that is acquired during the lifetime of the individual.


dorsal nasal artery

The dorsal nasal artery (nasal artery) is an artery of the head. It is one of the two terminal branches of the ophthalmic artery. [WP,unvetted].


terminal branch of ophthalmic artery

The two terminal branches of the ophthalmic artery in humans are the dorsal nasal artery and the supratrochlear artery.


frontal artery

The supratrochlear artery (or frontal artery), one of the terminal branches of the ophthalmic artery, branches off where the ophthalmic travels posterior to the trochlea.


isoprenoid

Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives.


tetraterpenoid

Any terpenoid derived from a tetraterpene. The term includes compounds in which the C40 skeleton of the parent tetraterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


Retinyl octanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of octanoic acid with the hydroxy group of all-trans-retinol.


tetracyclic diterpenoid

A diterpenoid with a tetracyclic skeleton.


3,4-Didehydroretinoic acid

A retinoid obtained by 3,4-desaturation of beta-ionone ring of all-trans-retinoic acid


sesquiterpenoid

Any terpenoid derived from a sesquiterpene. The term includes compounds in which the C15 skeleton of the parent sesquiterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


Vitamin A palmitate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of palmitic (hexadecanoic acid) with the hydroxy group of all-trans-retinol. It is used in cosmetic products to treat various skin disorders such as acne, skin aging, wrinkles, dark spots, and also protect against psoriasis.


Retinyl dodecanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of dodecanoic (lauric) acid with the hydroxy group of all-trans-retinol.


A retinoid that consists of 3,7-dimethylnona-2,4,6,8-tetraenoic acid having a 4-methoxy-2,3,6-trimethylphenyl group attached at position 9.


monoterpenoid

Any terpenoid derived from a monoterpene. The term includes compounds in which the C10 skeleton of the parent monoterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


xanthophyll

A subclass of carotenoids consisting of the oxygenated carotenes.


Vitamin A2

A retinoid derived from 3,4-desaturation of the beta-ionone ring of all-trans-retinol.


A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraen-1-ol substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified).


retinoid

Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof.


vitamin A myristate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of tetradecanoic acid with the hydroxy group of all-trans-retinol.


terpenoid

Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group.


cyclic terpene ketone

An alicyclic ketone in which the carbocyclic ring structure forms part of a terpene skeleton.


carotenoid

One of a class of tetraterpenoids (C40), formally derived from the acyclic parent, psi,psi-carotene by hydrogenation, dehydrogenation, cyclization, oxidation, or combination of these processes. This class includes carotenes, xanthophylls and certain compounds that arise from rearrangement of the skeleton of psi,psi-carotene or by loss of part of this structure. Retinoids are excluded.


A retinoid consisting of 3,7-dimethylnona-2,4,6,8-tetraenoic acid substituted at position 9 by a 2,6,6-trimethylcyclohex-1-en-1-yl group (geometry of the four exocyclic double bonds is not specified).


Retinyl heptanoate

An all-trans-retinyl ester obtained by formal condensation of the carboxy group of heptanoic acid with the hydroxy group of all-trans-retinol.


all-trans-retinyl ester

A retintinyl ester in which all double bonds of the retinyl side-chain have trans-configuration.


terpene ketone

Any terpenoid which contains a keto group.


Menthol

Any secondary alcohol that is one of the eight possible diastereoisomers of 5-methyl-2-(propan-2-yl)cyclohexan-1-ol.


diterpenoid

Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups).


Duodenal Adenoma

A circumscribed neoplasm that arises from the glandular epithelium of the duodenum. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous.


Benign Periampullary Neoplasm

A non-metastasizing neoplasm arising from the periampullary region.


m-cresol catabolic process

The chemical reactions and pathways resulting in the breakdown of m-cresol (3-hydroxytoluene), the meta-isoform of cresol.


Catalysis of the reaction: dolichyl beta-D-glucosyl phosphate + H2O = dolichol-phosphate + beta-D-glucose.


orsellinate decarboxylase activity

Catalysis of the reaction: o-orsellinate + H+ = CO2 + orcinol.


Atypical Type A Thymoma

A rare type A thymoma displaying atypical features (hypercellularity, increased mitotic activity, and focal necrosis).


Pathologic Stage I Merkel Cell Carcinoma AJCC v8

Stage I includes: T1, N0, M0. T1: Maximum clinical tumor diameter equal to or less than 2 cm. N0: No regional lymph node metastasis detected on pathologic examination. M0: No distant metastasis detected on clinical and/or radiologic examination. (AJCC 8th ed.)


LADD syndrome 1

Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene.


joint of rib

Any joint that connects a rib to another structure (or another rib). Examples: costochondral, costovertebral, interchondral, sternocostal joints.


luteolin O-methyltransferase activity

Catalysis of the reaction: S-adenosyl-L-methionine + luteolin = 4',5,7-trihydroxy-3'-methoxyflavone + S-adenosyl-L-homocysteine + H+.


mid cerebral vein

The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceede lateraly in a ventral direction to drain into the paired primordial midbrain channels (PHBC). ogai et al. 2001., Kimmel et al. 1993.


cataract 44

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.


Cellular neurothekeoma

A nerve sheath myxoma with increased cellularity.


Catalysis of the reaction: 9,10-epoxy-18-hydroxystearate + H2O <=> 9,10,18-trihydroxystearate.


Catalysis of the reaction: phenanthrene-9,10-oxide + H2O = trans-9,10-dihydrodiolphenanthrene.


glucosylglycerate hydrolase activity

Catalysis of the reaction: H2O + 2-O-(alpha-D-glucopyranosyl)-D-glycerate <=> alpha-D-glucose + D-glycerate.


juvenile hormone epoxide hydrolase activity

Catalysis of the hydrolysis of the epoxide in a juvenile hormone to the corresponding diol.


leukotriene-A4 hydrolase activity

Catalysis of the reaction: H2O + leukotriene A(4) = leukotriene B(4).


pyrene-4,5-epoxide hydrolase activity

Catalysis of the reaction: pyrene-4,5-oxide + H2O = trans-4,5-dihydroxy-4,5-dihydropyrene.


cis-stilbene-oxide hydrolase activity

Catalysis of the reaction: cis-stilbene oxide + H2O = (+)-(1R,2R)-1,2-diphenylethane-1,2-diol.


9,10-epoxystearate hydrolase activity

Catalysis of the reaction: 9,10-epoxystearate + H2O <=> (9R,10S)-dihydroxystearate.


phenanthrene-9,10-epoxide hydrolase (9R,10R-forming) activity

Catalysis of the reaction: phenanthrene-9,10-oxide + H2O = trans-9R,10R-dihydrodiolphenanthrene.


isochorismatase activity

Catalysis of the reaction: H2O + isochorismate = 2,3-dihydroxy-2,3-dihydrobenzoate + pyruvate.


phenanthrene-epoxide hydrolase activity

Catalysis of the reaction: a phenanthrene dioxide + H2O = a dihydrodiolphenanthrene.


mannosylglycerate hydrolase activity

Catalysis of the reaction: H2O + 2-(alpha-D-mannosyl)-D-glycerate <=> alpha-D-mannose + D-glycerate.


Catalysis of the reaction: phenanthrene-1,2-oxide + H2O = trans-1,2-dihydrodiolphenanthrene.


epoxide hydrolase B activity

Catalysis of the hydrolysis of the ether in chloro- or hydroxyepoxypropane to produce chloropropane diol or glycerol. Acts on R enantiomers.


epoxide hydrolase A activity

Catalysis of the hydrolysis of the ether in chloro-, bromo- or hydroxyepoxypropane to produce a chloro- or bromopropane diol or glycerol.


phenanthrene-9,10-epoxide hydrolase (9S,10S-forming) activity

Catalysis of the reaction: phenanthrene-9,10-oxide + H2O = trans-9(S),10(S)-dihydrodiolphenanthrene.


Catalysis of the reactions: 5,6alpha-epoxy-5alpha-cholestan-3beta-ol + H2O = cholestane-3beta-5alpha,6beta-triol, and 5,6beta-epoxy-5beta-cholestan-3beta-ol + H2O = cholestane-3beta-5alpha,6beta-triol.


limonene-1,2-epoxide hydrolase activity

Catalysis of the reaction: limonene-1,2-epoxide + H2O = limonene-1,2-diol. Other substrates include alicyclic and 1-methyl-substituted epoxides, such as 1-methylcyclohexene oxide, indene oxide and cyclohexene oxide.


aurachin C epoxide hydrolase/isomerase activity

Catalysis of the reaction: aurachin C epoxide + H+ + NAD(P)H <=> aurachin B + H2O + NAD(P).


trans-epoxysuccinate hydrolase activity

Catalysis of the reaction: trans-2,3-epoxysuccinate + H2O = (2R,3S)-tartrate.


Catalysis of the reaction: phenanthrene-3,4-oxide + H2O = trans-3,4-dihydrodiolphenanthrene.


Catalysis of the reaction: H2O + 1-(1-alkenyl)-sn-glycero-3-phosphocholine = L-1-glycero-3-phosphocholine + an aldehyde.


cutaneous undifferentiated pleomorphic sarcoma

An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm.


Anaplastic Sarcoma of the Kidney

A rare tumor, usually occurring in young adults (mean age 12 years) with slight female predominance. It is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. Most cases show chondroid differentiation.


autosomal recessive limb-girdle muscular dystrophy type 2Q

Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.


Barrett Esophagus-Indefinite for Dysplasia

A finding indicating the presence of Barrett esophagus in which technical reasons make the interpretation of atypia difficult, atypia is present but it is not quite to the level of dysplasia, or atypia is present at the bases of the crypts but does not reach the surface of the crypts.


Gastrointestinal dysplasia

A finding indicating the presence of morphologic features of neoplasia in the epithelium of any part of the digestive system without evidence of invasion.  These features include architectural and cytological epithelial alterations.


High Grade Dysplasia in Ulcerative Colitis

A morphologic finding indicating the presence of high grade colorectal epithelial dysplasia secondary to ulcerative colitis.


Moderate dysplasia of colon

A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the glandular epithelium of the colonic mucosa. There is no evidence of invasion.


Barrett Esophagus-Negative for Dysplasia

A finding indicating the presence of Barrett esophagus with regenerative changes only.


Barretts esophagus with high grade dysplasia

A finding indicating the presence of Barrett esophagus in which there is marked nuclear pleomorphism and loss of polarity, increased number of atypical mitotic figures, and crypt budding, branching, and crowding.


Crohn Disease-Associated Dysplasia of the Colorectum

A morphologic finding indicating the presence of dysplastic epithelial changes in an intestinal tissue sample that is affected by Crohn disease.


Negative for Gastric Dysplasia

A morphologic finding indicating the absence of dysplastic changes in the gastric mucosal epithelium.  It includes non-neoplastic inflammatory, reactive, or metaplastic pathologic processes.


Low Grade Dysplasia in Inflammatory Bowel Disease

A morphologic finding indicating the presence of low grade colorectal epithelial dysplasia secondary to inflammatory bowel disease.


Ulcerative Colitis-Associated Dysplasia of the Colorectum

A morphologic finding indicating the presence of dysplastic epithelial changes in a large intestinal tissue sample that is affected by ulcerative colitis.


Mild dysplasia of colon

A morphologic finding indicating the presence of mild dysplastic cellular changes and mild architectural changes in the glandular epithelium of the colonic mucosa. There is no evidence of invasion.


Barretts esophagus with dysplasia

Epithelial dysplasia that develops in Barrett esophagus. It is classified as low or high grade. When technical reasons make the interpretation of atypia difficult, atypia is present but it is not quite to the level of dysplasia, or atypia is present at the bases of the crypts but does not reach the surface of the crypts, then the diagnosis of Barrett esophagus-indefinite for dysplasia is made.


Low Grade Dysplasia in Ulcerative Colitis

A morphologic finding indicating the presence of low grade colorectal epithelial dysplasia secondary to ulcerative colitis.


Gastric dysplasia

A intraepithelial neoplasia (dysplasia) that arises in either the native gastric mucosa or in metaplastic gastric epithelium.  It has a flat, polypoid or slightly depressed growth pattern.  It is graded as low grade (mild dysplasia) or high grade (moderate dysplasia and carcinoma in situ).  (WHO, 2000)


Inflammatory Bowel Disease-Associated Dysplasia of the Colorectum

A morphologic finding indicating the presence of colorectal epithelial dysplasia secondary to inflammatory bowel disease.


Barretts esophagus with low grade dysplasia

A finding indicating the presence of Barrett esophagus in which the crypts are preserved or mildly distorted.  There is nuclear elongation, mild pleomorphism and loss of polarity, mucin depletion, and increased number of mitotic figures.


Moderate dysplasia of rectum

A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the glandular epithelium of the rectal mucosa. There is no evidence of invasion.


Esophageal Columnar Dysplasia

A morphologic finding the replacement of the normal lower esophagus squamous epithelium with columnar epithelium.


Dysplasia of rectum

A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the rectal mucosa.  There is no evidence of invasion.


High Grade Dysplasia in Inflammatory Bowel Disease

A morphologic finding indicating the presence of high grade colorectal epithelial dysplasia secondary to inflammatory bowel disease.


Liver Dysplastic Foci

A morphologic finding indicating the presence of single or multiple foci of hepatocytes that exhibit dysplastic changes.  These microscopic foci measure less than 1 mm in diameter and are usually detected in cirrhotic livers.


Indefinite for Gastric Dysplasia

A term used to describe an ambiguous morphologic pattern in the gastric mucosa, when there is doubt whether the findings represent a non-neoplastic or neoplastic pathologic process.


Mild dysplasia of rectum

A morphologic finding indicating the presence of mild dysplastic cellular changes and mild architectural changes in the glandular epithelium of the rectal mucosa. There is no evidence of invasion.


Moderate esophageal dysplasia

A morphologic finding indicating the presence of moderate dysplastic cellular changes and moderate architectural changes in the epithelium of the esophageal mucosa. There is no evidence of invasion.


Catalysis of the reaction: L-cystine + H2O = pyruvate + NH3 + thiocysteine. Thiocysteine is also known as cysteine persulfide.


peroxisome biogenesis disorder 7B

An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


dioctophymiasis

A disease caused by infection with Dioctophyme renale.


Enoplea infectious disease

Infections with nematodes of the order enoplida.


trichuriasis

An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea.


trichinellosis

A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur.


capillariasis

A infectious disease involving the Capillaria.


Trichinella spiralis infectious disease

An disease or disorder caused by infection with Trichinella spiralis.


Catalysis of the reaction: a 1-phosphatidyl-1D-myo-inositol 3-phosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate + ADP + 2 H+.


Catalysis of the reaction: a 1-phosphatidyl-1D-myo-inositol 3-phosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + ADP + 2 H+.


Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol + ATP = a 1-phosphatidyl-1D-myo-inositol 5-phosphate + ADP + 2 H+.


heterotaxy, visceral, 10, autosomal, with male infertility


disulfoglucosamine-6-sulfatase activity

Catalysis of the reaction: N(2),6-disulfo-D-glucosamine + H2O = N-sulfo-D-glucosamine + H+ + sulfate.


malignant central nervous system mesenchymal, non-meningothelial neoplasm

A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system.


central nervous system melanocytic neoplasm

A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion.


central nervous system extraskeletal osteosarcoma

An osteosarcoma arising from the brain or spinal cord.


diencephalic cancer

A cancer involving a diencephalon.


meningeal melanomatosis

A meningeal melanoma with secondary diffuse meningeal spread. (WHO)


cerebral sarcoma

A sarcoma involving a telencephalon.


cerebral lymphoma

A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion.


primary intracranial sarcoma, DICER1-mutant

A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene.


meningeal sarcoma

A rare sarcoma arising from the meninges.


malignant leptomeningeal tumor

A primary or metastatic malignant tumor involving the leptomeninges.


anaplastic meningioma

A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields).


skin meningioma

A meningioma (disease) that involves the zone of skin.


parasagittal meningioma

A meningioma that affects the superior sagittal sinus and invades the parasagittal angle.


choroid plexus meningioma

A meningioma that affects the choroid plexus.


intraventricular meningioma

A meningioma that affects the ventricles of the brain.


spinal meninges cancer

A malignant neoplasm involving the meninx of spinal cord.


primary melanoma of the central nervous system

A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor.


pineal gland cancer

Abnormal malignant growth of the cells that comprise the pineal parenchyma.


adult leptomeningeal melanoma

A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood.


cerebral hemisphere cancer

A cancer that involves the cerebral hemisphere.


childhood brain stem neoplasm

A neoplasm that affects the brain stem and occurs during childhood.


cerebellopontine angle embryonal tumor

A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain.


lateral ventricle meningioma

A meningioma that affects the lateral ventricle of the brain.


primary skin meningioma

A rare extracranial meningioma that arises from the skin.


malignant carotid body paraganglioma

A carotid body paraganglioma that metastasizes to other anatomic sites.


brainstem cancer

A primary or metastatic malignant neoplasm that affects the brain stem.


meningeal melanocytoma

A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative.


paragangliomas 5

Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.


frontal convexity meningioma

A meningioma that affects the frontal sulcus.


infratentorial cancer

Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces.


central nervous system sarcoma

A sarcoma that arises from the central nervous system.


cerebral primitive neuroectodermal tumor

A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres.


cancer of cerebellum

A cancer that involves the cerebellum.


intracranial extraskeletal myxoid chondrosarcoma

An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.


atypical teratoid rhabdoid tumor

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.


intracerebral cystic meningioma

A cystic meningioma that grows within the cerebral hemispheres.


cerebral ventricle cancer

A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure.


thalamic cancer

A cancer involving a dorsal plus ventral thalamus.


parietal lobe cancer

A malignant neoplasm involving the parietal lobe


cerebral convexity meningioma

A meningioma that affects the cerebral sulcus.


pituitary cancer

A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract.


leptomeningeal sarcoma

A sarcoma arising from the leptomeninges.


brain sarcoma

A sarcoma arising from the brain.


diffuse meningeal melanocytosis

A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO)


cerebral meningioma

A meningioma that affects the cerebral hemispheres.


leptomeningeal melanoma

A melanoma that arises from leptomeningeal melanocytes.


malignant jugulotympanic paraganglioma

A jugulotympanic paraganglioma that metastasizes to other anatomic sites.


sarcomatosis of the meninges

A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis.


central nervous system angiosarcoma

A malignant vascular neoplasm arising from the brain, spinal cord or meninges.


choroid plexus cancer

A malignant neoplasm involving the choroid plexus


paragangliomas 4

Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene.


malignant tumor of meninges

A cancer that involves the meningeal cluster.


central nervous system leiomyosarcoma

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


paragangliomas 2

Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene.


pediatric leptomeningeal melanoma

A melanoma that arises from leptomeningeal melanocytes and occurs in childhood.


central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor

A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone.


retinitis pigmentosa 27

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


Stage I Ureter Cancer AJCC v8

Stage I includes: T1, N0, M0. T1: Tumor invades subepithelial connective tissue. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th ed.)


Stage I Renal Pelvis and Ureter Cancer AJCC v8


Rhino-Deadlock-Cutoff Complex

Protein complex found in Drosophila consisting of the gene products of cuff, del and rhi. It regulates the licensing of transcription of dual-strand PIWI interacting RNA (piRNA) source loci by binding to dual-strand-cluster chromatin, probably via the H3K9me3-binding activity of Rhi. Rhi binding brings the putative termination cofactor Cuff in close proximity to the nascent piRNA precursor transcript which it appears to protect from degradation.


Charcot-Marie-Tooth disease axonal type 2S

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.


positive regulation of cortical granule exocytosis by positive regulation of cytosolic calcium ion concentration

Any process that activates or increases the frequency, rate or extent of cortical granule exocytosis by directing movement of calcium ions (Ca2+) into the cytosol.


negative regulation of synaptic vesicle fusion to presynaptic active zone membrane

Any process that stops, prevents, or reduces the frequency, rate or extent of synaptic vesicle fusion to the presynaptic membrane.


negative regulation of cytotoxic T cell degranulation

Any process that stops, prevents, or reduces the rate of cytotoxic T cell degranulation.


negative regulation of natural killer cell degranulation

Any process that stops, prevents, or reduces the rate of natural killer cell degranulation.


negative regulation of constitutive secretory pathway

Any process that stops, prevents or reduces the frequency, rate or extent of constitutive secretory pathway.


positive regulation of dense core granule exocytosis

Any process that activates or increases the frequency, rate or extent of dense core granule exocytosis.


positive regulation of calcium ion-dependent exocytosis of neurotransmitter

Any process that activates or increases the frequency, rate or extent of calcium ion-dependent exocytosis of neurotransmitter.


regulation of exocytic insertion of neurotransmitter receptor to postsynaptic membrane

Any process that modulates the frequency, rate or extent of exocytic fusion of neurotransmitter receptor containing vesicles into the postsynaptic membrane.


positive regulation of mast cell degranulation in another organism

Any process in which an organism increases the frequency, rate or extent of blood mast cell degranulation in another organism.


induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration

The induction of synaptic vesicle release by any process that leads to a rise in intracellular calcium ion concentration at the presynapse. This is the first step in synaptic transmission.


regulation of dense core granule exocytosis

Any process that modulates the frequency, rate or extent of dense core granule exocytosis.


regulation of cytotoxic T cell degranulation

Any process that modulates the frequency, rate, or extent of cytotoxic T cell degranulation.


modulation of mast cell degranulation in another organism

Any process in which an organism modulates the frequency, rate or extent of blood mast cell degranulation in another organism. Mast cell degranulation is the regulated exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell.


negative regulation of eosinophil degranulation

Any process that stops, prevents, or reduces the rate of eosinophil degranulation.


regulation of presynaptic dense core granule exocytosis

Any process that modulates the frequency, rate or extent of presynaptic dense core granule exocytosis.


positive regulation of cytotoxic T cell degranulation

Any process that activates or increases the frequency, rate or extent of cytotoxic T cell degranulation.


negative regulation of calcium ion-dependent exocytosis of neurotransmitter

Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion-dependent exocytosis of neurotransmitter.


negative regulation of exocyst assembly

Any process that stops, prevents, or reduces the rate or extent of exocyst assembly.


negative regulation of synaptic vesicle priming

Any process that decreases the frequency, rate or extent of synaptic vesicle priming. Synaptic vesicle priming is the formation of SNARE-containing complexes, bringing synaptic vesicle membrane and plasma membranes into close proximity and thereby facilitating membrane fusion.


positive regulation of acrosomal vesicle exocytosis

Any process that activates or increases the frequency, rate or extent of acrosomal vesicle exocytosis.


negative regulation of basophil degranulation

Any process that stops, prevents or reduces the frequency, rate or extent of basophil degranulation.


negative regulation of exosomal secretion

Any process that stops, prevents or reduces the frequency, rate or extent of exosomal secretion.


regulation of acrosomal vesicle exocytosis

Any process that modulates the frequency, rate or extent of acrosomal vesicle exocytosis.


regulation of basophil degranulation

Any process that modulates the frequency, rate or extent of basophil degranulation.


positive regulation of constitutive secretory pathway

Any process that activates or increases the frequency, rate or extent of constitutive secretory pathway.


regulation of postsynaptic dense core vesicle exocytosis

Any process that modulates the frequency, rate or extent of postsynaptic dense core vesicle exocytosis.


positive regulation of neutrophil degranulation

Any process that activates or increases the frequency, rate or extent of neutrophil degranulation.


positive regulation of basophil degranulation

Any process that activates or increases the frequency, rate or extent of basophil degranulation.


negative regulation of dense core granule exocytosis

Any process that stops, prevents or reduces the frequency, rate or extent of dense core granule exocytosis.


fibroblast growth factor receptor signaling pathway involved in heart induction

biolink:Pathway biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:OntologyClass biolink:Occurrent biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands that contributes to heart induction.


kidney smooth muscle cell differentiation

The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell in the kidney.


Stage III Intermediate Grade Adult Non-Hodgkin's Lymphoma


variola minor infection

A orthopoxvirus that causes a milder clinical syndrome than smallpox.


Timothy syndrome type 2

Classical Timothy syndrome without cutaneous syndactyly.


long QT syndrome 9

Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.


Timothy syndrome type 1

Classical Timothy syndrome with cutaneous syndactyly.


long QT syndrome 10

Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.


Jervell and Lange-Nielsen syndrome 1

Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.


long QT syndrome 6

Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.


Timothy syndrome, atypical type

Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death.


Jervell and Lange-Nielsen syndrome 2

Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.


long QT syndrome 13

Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene.


long QT syndrome 11

Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.


long QT syndrome 15

Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene.


long QT syndrome 12

Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene.


Timothy syndrome, classic type

Classic form of Timothy syndrome, includes all features of generic.


ectopia lentis 2, isolated, autosomal recessive

An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.


Stage IIIC Eyelid Carcinoma AJCC v7

Stage IIIC includes: T4, Any N, M0.  T4: Tumor is not resectable due to extensive invasion of ocular, orbital, craniofacial structures, or brain.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IIA Eyelid Carcinoma AJCC v8

Stage IIA includes: T2b-c, T3, N0, M0: T2b: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. T2c: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. T3: Tumor measuring more than 20 mm but 30 mm or less in greatest dimension. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage 0 Eyelid Carcinoma AJCC v7

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


Stage IIIB Eyelid Carcinoma AJCC v7

Stage IIIB includes: Any T, N1, M0.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage II Eyelid Carcinoma AJCC v7

Stage II includes: T3a, N0, M0.  T3a: Tumor more than 20 mm in greatest dimension.  Or, any tumor that invades adjacent ocular or orbital structures.  Or, any T with perineural tumor invasion.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IC Eyelid Carcinoma AJCC v7

Stage IC includes: T2b, N0, M0.  T2b: Tumor more than 10 mm, but not more than 20 mm in greatest dimension.  Or, tumor involves full thickness of the eyelid.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage IIIB Eyelid Carcinoma AJCC v8

Stage IIIB includes: Any T, N2, M0. N2: Metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage I Eyelid Carcinoma AJCC v8

Stage I includes: IA: T1, N0, M0; IB: T2a, N0, M0. T1: Tumor measuring 10 mm or less in greatest dimension. T2a: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Basal cell carcinoma of eyelid

A basal cell carcinoma that arises from the eyelid.


Stage IIIA Eyelid Carcinoma AJCC v8

Stage IIIA includes: Any T, N1, M0. N1: Metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. M0: No distant metastasis. (AJCC 8th ed.)


Stage IB Eyelid Carcinoma AJCC v7

Stage IB includes: T2a, N0, M0.  T2a: Tumor more than 5 mm, but not more than 10 mm in greatest dimension.  Or, any tumor that invades the tarsal plate or eyelid margin.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage IV Eyelid Carcinoma AJCC v7

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


Stage IIB Eyelid Carcinoma AJCC v8

Stage IIB includes: T4, N0, M0. T4: Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Eyelid Carcinoma by AJCC v8 Stage

A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 8th edition. This staging system applies to all primary carcinomas of the eyelid, including basal cell carcinoma (BCC), squamous cell carcinoma (SCC), sebaceous carcinoma, and other rare carcinomas, such as all varieties of sweat gland carcinoma (e.g., eccrine carcinoma). It does not apply to carcinomas of the head and neck with direct extension to eyelid (are staged according to the cutaneous squamous cell carcinomas of the head and neck), Merkel cell carcinomas of the eyelid (are staged according to the classification for Merkel cell carcinomas), and melanomas of the eyelid (are staged according to the classification for melanomas of the skin).  (from AJCC 8th Ed.)


Stage 0 Eyelid Carcinoma AJCC v8

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


Stage IIIA Eyelid Carcinoma AJCC v7

Stage IIIA includes: T3b, N0, M0.  T3b: Complete tumor resection requires enucleation, exenteration, or bone resection.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Eyelid Carcinoma by AJCC v7 Stage

A term that refers to the staging of eyelid carcinoma according to the American Joint Committee on Cancer, 7th edition.


Stage IA Eyelid Carcinoma AJCC v7

Stage IA includes: T1, N0, M0.  T1: Tumor 5 mm or less in greatest dimension.  No invasion of the tarsal plate or eyelid margin.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


Stage II Eyelid Carcinoma AJCC v8

Stage II includes: IIA: T2b-c, T3, N0, M0; IIB: T4, N0, M0. T2b: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension with invasion of the tarsal plate or eyelid margin. T2c: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension involving the full thickness of the eyelid. T3: Tumor measuring more than 20 mm but 30 mm or less in greatest dimension. T4: Any eyelid carcinoma invading adjacent ocular, orbital, or facial structures. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage III Eyelid Carcinoma AJCC v8

Stage III includes: IIIA: Any T, N1, M0; IIIB: Any T, N2, M0. N1: Metastasis in a single ipsilateral regional lymph node, measuring 3 cm or less in greatest dimension. N2: Metastasis in a single ipsilateral regional lymph node, measuring more than 3 cm in greatest dimension, or in bilateral or contralateral lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Stage IB Eyelid Carcinoma AJCC v8

Stage IB includes: T2a, N0, M0. T2a: Tumor measuring more than 10 mm but 20 mm or less in greatest dimension without invasion of the tarsal plate or eyelid margin. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IA Eyelid Carcinoma AJCC v8

Stage IA includes: T1, N0, M0. T1: Tumor measuring 10 mm or less in greatest dimension. N0: No evidence of lymph node involvement. M0: No distant metastasis. (AJCC 8th ed.)


Stage IV Eyelid Carcinoma AJCC v8

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


mitochondrial RNA surveillance

The set of processes involved in identifying and degrading defective or aberrant RNAs that takes place in the mitochondrion.


cytosine catabolic process

The chemical reactions and pathways resulting in the breakdown of cytosine, 4-amino-2-hydroxypyrimidine, a pyrimidine derivative that is one of the five main bases found in nucleic acids; it occurs widely in cytidine derivatives.


lncRNA catabolic process

The chemical reactions and pathways resulting in the breakdown of lncRNAs, non-coding RNAs over 200 nucleotides in length.


acrylonitrile catabolic process

The chemical reactions and pathways resulting in the breakdown of acrylonitrile, a colorless, volatile liquid with a pungent odor. Acrylonitrile is used in the production of acrylic fibers, plastics, and synthetic rubbers.


riboflavin catabolic process

The chemical reactions and pathways resulting in the breakdown of riboflavin (vitamin B2), the precursor for the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD).


chlorophyll catabolic process

The chemical reactions and pathways resulting in the breakdown of chlorophyll, any compound of magnesium complexed in a porphyrin (tetrapyrrole) ring and which functions as a photosynthetic pigment, into less complex products.


2-nitropropane catabolic process

The chemical reactions and pathways resulting in the breakdown of 2-nitropropane, a clear, colorless liquid with a mild, fruity odor.


deoxyguanosine catabolic process

The chemical reactions and pathways resulting in the breakdown of deoxyguanosine, a nucleoside consisting of the base guanine and the sugar deoxyribose.


citrulline catabolic process

The chemical reactions and pathways resulting in the breakdown of citrulline, N5-carbamoyl-L-ornithine, an alpha amino acid not found in proteins.


cytoplasmic polyadenylation-dependent RNA catabolic process

The chemical reactions and pathways occurring in the cytoplasm and resulting in the breakdown of an RNA molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target rRNA truncated degradation intermediate.


bilirubin conjugation

The chemical reactions and pathways resulting in the formation of bilirubin monoglucuronide or bilirubin diglucuronide, water-soluble derivatives of bilirubin.


cytoplasmic polyadenylation-dependent rRNA catabolic process

The chemical reactions and pathways occurring in the cytoplasm and resulting in the breakdown of a ribosomal RNA (rRNA) molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target rRNA truncated degradation intermediate.


nuclear polyadenylation-dependent CUT catabolic process

The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of a cryptic unstable transcript (CUT), initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target CUT.


maternal mRNA clearance

The chemical reactions and pathways resulting in the clearance of maternal mRNA transcripts from the zygote as part of the maternal-to-zygote transition in gene expression.


pyrimidine deoxyribonucleoside catabolic process

The chemical reactions and pathways resulting in the breakdown of any one of a family of organic molecules consisting of a pyrimidine base covalently bonded to a sugar deoxyribose (a deoxyribonucleoside).


nuclear mRNA surveillance of mRNP export

The set of processes involved in identifying and degrading incorrectly formed or aberrant nuclear mRNPs docked at the nuclear pore complex prior to export to the cytoplasm.


thiamine-containing compound catabolic process

The chemical reactions and pathways resulting in the breakdown of thiamine (vitamin B1), and compounds derived from it.


pyridine catabolic process

The chemical reactions and pathways resulting in the breakdown of pyridine, a nitrogenous base (C5H5N) obtained from the distillation of bone oil or coal tar, and by the decomposition of certain alkaloids, as a colorless liquid with a peculiar pungent odor.


thiamine catabolic process

The chemical reactions and pathways resulting in the breakdown of thiamine (vitamin B1), a water soluble vitamin present in fresh vegetables and meats, especially liver.


nitrate catabolic process

The chemical reactions and pathways resulting in the breakdown of nitrates, inorganic or organic salts and esters of nitric acid.


uridine catabolic process

The chemical reactions and pathways resulting in the breakdown of uridine, uracil riboside, a ribonucleoside very widely distributed but occurring almost entirely as phosphoric esters in ribonucleotides and ribonucleic acids.


flavin-containing compound catabolic process

The chemical reactions and pathways resulting in the breakdown of a flavin, any derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione) skeleton, with a substituent on the 10 position.


antisense RNA transcript catabolic process

The chemical reactions and pathways resulting in the breakdown of antisense transcripts, i.e. transcripts that were produced from the antisense strand of a gene that produces a gene product and which often have a regulatory effect on the transcription of that gene product.


nuclear polyadenylation-dependent snRNA catabolic process

The chemical reactions and pathways occurring in the nucleus and resulting in the breakdown of a small nuclear RNA (snRNA) molecule, initiated by the enzymatic addition of a sequence of adenylyl residues (polyadenylation) at the 3' end the target snRNA.


thiamine diphosphate catabolic process

The chemical reactions and pathways resulting in the breakdown of thiamine diphosphate, a derivative of thiamine (vitamin B1) which acts as a coenzyme in a range of processes including the Krebs cycle.


deoxyinosine catabolic process

The chemical reactions and pathways resulting in the breakdown of deoxyinosine, hypoxanthine deoxyriboside.


21U-RNA catabolic process

The chemical reactions and pathways resulting in the breakdown of 21U-RNAs, a class of single-stranded RNA molecules of about 21 nucleotides in length characterized by a uridine 5'-monophosphate and a modified 3' end resistant to periodate degradation. 21U-RNAs are derived from distinct, autonomously expressed loci within the genome.


nuclear-transcribed mRNA catabolic process, 5'-3' exonucleolytic nonsense-mediated decay

The chemical reactions and pathways resulting in the breakdown of the nuclear-transcribed mRNA transcript body of an mRNA in which an amino-acid codon has changed to a nonsense codon; occurs when the 5' end is not protected by a 5'-cap; degradation proceeds in the 5' to 3' direction.


nitrile catabolic process

The chemical reactions and pathways resulting in the breakdown of a nitrile, an organic compound containing trivalent nitrogen attached to one carbon atom.


coenzyme F420-dependent bicyclic nitroimidazole catabolic process

The breakdown of a bicyclic nitroimidazole into simpler components in a process that requires coenzyme F420 and produces reactive nitrogen species. Hydride, from reduced coenzyme F420, is added to the bicyclic nitroimidazole, resulting in unstable substances that break down to form three stable products. The elimination of nitrous acid produces the corresponding des-nitroimidazole; hydrolysis produces a related compound; and further reduction creates an aromatic hydroxylamine metabolite that degrades further. These reactions release hyponitrous acid and nitrous acid, which is unstable and disproportionates into nitric oxide (NO) and other reactive nitrogen intermediates.