name: syndromic X-linked intellectual disability Lubs type

description: Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.


Sertoli cell-only syndrome

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

description: Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children.


name: Immunodeficiencies Affecting Cellular and Humoral Immunity - Severe Combined Immune Deficiency

description: A group of immunodeficiency disorders that include T cell-negative, B cell-positive severe combined immunodeficiencies; and T cell-negative, B cell-negative severe combined immunodeficiencies.


trisomy 13

description: Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.


Eisenmenger syndrome

description: Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.


Cockayne syndrome type 2

description: Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.


Scheie syndrome

description: Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.


name: fragile X-associated tremor/ataxia syndrome

description: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.


name: Ehlers-Danlos syndrome, arthrochalasia type

description: Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.


name: Rubinstein-Taybi syndrome due to CREBBP mutations

description: Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.


name: Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion

description: A clinico-radiologic syndrome consisting of acute encephalopathy characterized by biphasic seizures and altered consciousness in the acute phase, followed by restricted diffusion in the subcortical white matter on diffusion-weighted magnetic resonance imaging.


Bartsocas-Papas syndrome 1

description: A rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.


Papillon-Lefevre disease

description: Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.


name: Severe Combined Immunodeficiency with Absence of T and B Cells

description: An inherited, severe immunodeficiency disorder characterized by abnormalities in the development and function of T and B cell immunity. The peripheral T and B lymphocytes are absent or in very low counts.


Kluver-Bucy syndrome

description: Kluver Bucy syndrome is a rare behavioral impairment characterized by inappropriate sexual behaviors and mouthing of objects. Other signs and symptoms include diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications.


polymyositis in scleroderma

description: A rare autoimmune disorder in which patients present with overlapping symptoms of systemic scleroderma and polymyositis or dermatomyositis.


name: pyogenic arthritis-pyoderma gangrenosum-acne syndrome

description: A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.


description: Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders.


striatonigral degeneration

description: A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.


description: An X-linked dominant condition caused by mutation(s) in the ZC4H2 gene, encoding zinc finger C4H2 domain-containing protein.  It is characterized by neurogenic arthrogryposis resulting from decreased fetal movements. Additional features may include global developmental delay, peripheral neuropathy, and characteristic facies.


Predominantly Antibody Deficiencies

description: A group of primary immunodeficiency diseases caused predominantly by antibody deficiencies, comprised of: Agammaglobulinemia with absent B cells; Severe reduction in at least two serum immunoglobulins, common variable immunodeficiency (CVID) phenotype; Severe reduction in serum IgG and IgA with normal or elevated IgM, hyper-IgM; and Isotype, light chain, or functional deficiencies with generally normal numbers of B cells.


Stickler syndrome type 1

description: Stickler syndrome inherited in an autosomal dominant pattern, caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain.


Evans syndrome

description: Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology.


name: Paraneoplastic Subacute Sensory Neuronopathy

description: A sensory neuropathy caused by the effects of a distant neoplasm (usually a small cell carcinoma). It is usually caused by the production of anti-neuronal autoantibodies: anti-Hu (ANNA-1) or anti-CV2 (CRMP-5), which result in cytotoxic T-cell mediated destruction of dorsal root ganglia. It is the most common clinical presentation of paraneoplastic encephalomyelitis. Clinical signs include asymmetric paresthesia of the face, trunk and proximal extremities followed by lancinating pain, vibrioceptive and proprioceptive impairment, and muted reflexes. Clinical course usually follows a progressive neurologic deterioration which stabilizes at a level of severe, permanent disability.


Type II Refractory Celiac Disease

description: Refractory celiac disease associated with abnormal (clonal) intraepithelial lymphocyte phenotype. It is a precursor of enteropathy-associated T-cell lymphoma.


Refractory Thrombocytopenia

description: A myelodysplastic syndrome characterized by the presence of at least 10% dysplastic megakaryocytes, found within at least 30 megakaryocytes examined in the bone marrow.


cryopyrin-associated periodic syndrome

description: Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS).


name: Myelodysplastic Syndrome, Not Otherwise Specified

description: Myelodysplastic syndrome with low blasts characterized by the absence of defining genetic abnormalities.


Neurofibromatosis aggravated

description: A condition causing exacerbation of the clinical features of neurofibromatosis.


acute motor axonal neuropathy

description: Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-Barre syndrome (GBS).


ring chromosome 13

description: Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.


congenital myasthenic syndrome

description: Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.


Cornelia de Lange syndrome 2

description: An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.


C1Q deficiency

description: C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.


Bruton-type agammaglobulinemia

description: X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.


IFN-gamma Receptor 1 Deficiency

description: A condition of decreased or absent presence or activity of interferon gamma receptor 1. Deficiency of this protein is associated with immunodeficiency 27A and immunodeficiency 27B.


de novo Myelodysplastic Syndrome

description: A primary myelodysplastic syndrome not associated with prior radiation or chemotherapy treatment.


fetal valproate syndrome

description: Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).


name: syndromic X-linked intellectual disability 5

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


Parana hard-skin syndrome

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


tempi syndrome

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


Fanconi anemia complementation group D2

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


Griscelli syndrome type 2

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


Opitz G/BBB syndrome

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


Myhre syndrome

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


name: Myelodysplastic Syndrome/Acute Myeloid Leukemia with Myelodysplasia-Related Gene Mutations

description: Myelodysplastic syndromes/acute myeloid leukemias characterized by the presence of gene mutations that are associated with myelodysplasia.


long QT syndrome 14

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


acrocephalosyndactyly

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


name: severe combined immunodeficiency due to CD70 deficiency

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


mitochondrial DNA depletion syndrome 4a

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


name: proteasome-associated autoinflammatory syndrome 1

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


CODAS syndrome

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


DNA ligase IV deficiency

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


congenital myasthenic syndrome 5

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


transient hypogammaglobulinemia

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


name: Childhood Myelodysplastic Syndrome with Low Blasts, Not Otherwise Specified

description: Childhood myelodysplastic syndrome with low blasts in which further characterization is not available.


Vertiginous syndrome

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


Sandifer syndrome

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


thoracic outlet syndrome

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


name: epidermodysplasia verruciformis, susceptibility to, 4

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


Fanconi anemia complementation group N

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


trichothiodystrophy

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


selective IgG subclass deficiency

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


Hermansky-Pudlak syndrome 2

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


name: Myelodysplastic Syndrome with Mutated TP53

description: Myelodysplastic syndrome characterized by the presence of TP53 gene mutations.


leukocyte adhesion deficiency type II

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


name: chromosome 16p12.1 deletion syndrome, 520kb

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


name: cauda equina syndrome with neurogenic bladder

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


fetal hydantoin syndrome

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


POEMS syndrome

description: POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels.


trisomy X

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


Refractory Neurofibromatosis Type 1

description: Neurofibromatosis type 1 that is resistant to treatment.


Fanconi anemia complementation group I

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


name: myelodysplastic syndrome associated with isolated del(5q)

description: A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)


name: IL21-related infantile inflammatory bowel disease

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


Alport syndrome

description: A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.


neurofibromatosis 1

description: The most common type of neurofibromatosis.  It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface.  They can vary markedly in size and color.  The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas.  They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures.  Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17.


orofaciodigital syndrome type 6

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


complement component 3 deficiency

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


Immunodeficiency 66

description: An autosomal recessive combined immunodeficiency caused by mutation(s) in the MRTFA (MKL1) gene, encoding myocardin-related transcription factor A. It is characterized by neutropenia and recurrent bacterial infections in infancy.


name: classic dopamine transporter deficiency syndrome

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


name: Congenital iodine deficiency syndrome of mixed type

description: Congenital iodine deficiency syndrome associated with overlapping features of both the neurological and myxedematous variants.


name: developmental defect during embryogenesis

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


MHC class I deficiency

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


multiple system atrophy

description: Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.


Williams syndrome

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


Genitourinary syndrome of menopause

description: A spectrum of lower urogenital tract signs and symptoms that are associated with the decreased production of estrogen experienced during menopause.  Findings may include genital dryness, burning or irritation, dyspareunia, decreased libido, urinary urgency, dysuria and recurrent urinary tract infections.


cerebrooculofacioskeletal syndrome 4

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


Miller-Dieker lissencephaly syndrome

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


name: T-B+ severe combined immunodeficiency due to JAK3 deficiency

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


lymphoproliferative syndrome 1

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


Rare Neoplastic Syndrome

description: A broad classification for uncommon disorders in which the development of neoplasms occur in association with a characteristic set of signs or symptoms. These disorders commonly have a genetic basis. The types of neoplasms themselves are not necessarily uncommon.


Ogden syndrome

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


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


congenital disorder of glycosylation

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


immunodeficiency 104

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


Carney triad

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


mucopolysaccharidosis type 3B

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


Denys-Drash syndrome

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


Hypomorphic RAG1 Deficiency

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


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

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


acrocallosal syndrome

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


Muckle-Wells syndrome

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


name: chromosome 8-derived supernumerary ring/marker

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


CLOVES syndrome

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


name: Hereditary Transthyretin Amyloidosis with Polyneuropathy

description: A rare, progressive, autosomally dominant inherited peripheral neuropathy caused by mutations in the TTR gene encoding transthyretin (prealbumin).  It is characterized by deposition of amyloid fibrils in the peripheral nervous system.


Amyloid Neuropathies

description: Neuropathy caused by amyloid deposition in the peripheral nerves.


familial amyloid neuropathy

description: A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.


category: biolink:MolecularActivity biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: Catalysis of the reaction: (S)-malate + 1-O-sinapoyl-beta-D-glucose = D-glucose + sinapoyl (S)-malate.


name: negative regulation of voltage-gated sodium channel activity

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

description: Any process that stops, prevents or reduces the frequency, rate or extent of voltage-gated sodium channel activity.


name: regulation of sodium ion import across plasma membrane

description: Any process that modulates the frequency, rate or extent of sodium ion import across the plasma membrane.


name: regulation of P-type sodium:potassium-exchanging transporter activity

description: Any process that modulates the frequency, rate or extent of sodium:potassium-exchanging ATPase activity.


name: negative regulation of P-type sodium:potassium-exchanging transporter activity

description: Any process that stops, prevents or reduces the frequency, rate or extent of sodium:potassium-exchanging ATPase activity.


name: negative regulation of sodium ion export across plasma membrane

description: Any process that stops, prevents or reduces the frequency, rate or extent of sodium ion export across the plasma membrane.


name: negative regulation of sodium ion import across plasma membrane

description: Any process that stops, prevents or reduces the frequency, rate or extent of sodium ion import across the plasma membrane.


name: regulation of voltage-gated sodium channel activity

description: Any process that modulates the frequency, rate or extent of voltage-gated sodium channel activity.


name: positive regulation of sodium ion import across plasma membrane

description: Any process that activates or increases the frequency, rate or extent of sodium ion import across the plasma membrane.


name: negative regulation of calcium:sodium antiporter activity

description: Any process that stops, prevents or reduces the frequency, rate or extent of calcium:sodium antiporter activity.


name: positive regulation of voltage-gated sodium channel activity

description: Any process that activates or increases the frequency, rate or extent of voltage-gated sodium channel activity.


Neonatal Graves' disease

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


tRNA-guanine transglycosylation

description: The modification of a tRNA anticodon loop by replacing guanine with queuonine. Reaction is tRNA guanine + queuine = tRNA queuine + guanine.


tendon of palmaris longus

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


Astler-Coller C2 Rectal Carcinoma

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


adult kidney Wilms tumor

description: Wilms tumor of the kidney which occurs in adults.


cysteine sulfinate desulfinase activity

description: Catalysis of the reaction: 3-sulfinoalanine = L-alanine + sulfite.


Sinonasal Mucosal Melanoma

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


name: Open fracture of shaft of metacarpal bone

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


name: metaphyseal chondrodysplasia, Jansen type

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


name: lateral superior deep cervical lymph node


deep lateral cervical lymph node

description: The deep lateral cervical lymph nodes are found near the upper part of the internal jugular vein in the neck, lateral or posterior to the carotid sheath.


name: inferior deep lateral cervical lymph node


name: superior deep lateral cervical lymph node


name: anterior superior deep cervical lymph node


name: lateral inferior deep cervical lymph node


name: anterior inferior deep cervical lymph node


mast cell apoptotic process

description: Any apoptotic process in a mast cell, a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation.


fascia of Scarpa

description: The deep layer (fascia of Scarpa) is a layer of the anterior abdominal wall.


abdominal segment connective tissue

description: A portion of connective tissue that is part of an abdominal segment of trunk [Automatically generated definition].


kidney capsule

description: The tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage.


perineal body

description: The perineal body (or central tendon of perineum) is a pyramidal fibromuscular mass in the middle line of the perineum at the junction between the urogenital triangle and the anal triangle. It is found in both males and females. In males, it is found between the bulb of penis and the anus; in females, is found between the vagina and anus, and about 1.25 cm in front of the latter. The perineal body is essential for the integrity of the pelvic floor, particularly in females. Its rupture during delivery leads to widening of the gap between the anterior free borders of levator ani muscle of both sides, thus predisposing the woman to prolapse of the uterus, rectum, or even the urinary bladder.


metanephric capsule

description: The metanephric capsule is the tough fibrous layer surrounding the metanephros, covered in a thick layer of perinephric adipose tissue. It provides some protection from trauma and damage[GO].


abdominal fascia

description: A fascia that is part of a abdomen.


renal fascia

description: A fascial pouch derived from extraperitoneal connective tissue that contains the kidneys, the suprarenal glands, the renal vessels and perirenal fat.


adipose tissue of abdominal region

description: Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots.


inguinal fat pad

description: Encapsulated adipose tissue found in the groin.


abdominal fat pad

description: The encapsulated adipose tissue in the abdomen.


subcutaneous abdominal adipose tissue

description: Subcutaneous adipose tissue that is located in the abdominal region.


pelvis connective tissue

description: A portion of connective tissue that is part of a pelvis [Automatically generated definition].


abdomen connective tissue

description: A portion of connective tissue that is part of an abdomen [Automatically generated definition].


omental fat pad

description: Encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon.


fascia of Camper

description: The superficial layer (fascia of Camper) is a thick superficial layer of the anterior abdominal wall. It is areolar in texture, and contains in its meshes a varying quantity of adipose tissue. It is found superficial to Scarpa's fascia.


retroperitoneal fat pad

description: Encapsulated adipose tissue found on the dorsal side of the peritoneum.


visceral abdominal adipose tissue

description: Subcutaneous adipose tissue that is located in the peritoneal cavity.


mesonephric capsule

description: The mesonephric capsule is the tough fibrous layer surrounding the mesonephros, covered in a thick layer of perinephric adipose tissue.


renal fat pad

description: Encapsulated adipose tissue associated with the kidney.


falciform fat

description: A large fat pad that is located at the base of the abdominal wall, in the falciform ligament of the liver.


name: negative regulation of cellotriose catabolic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of cellotriose catabolic process.


FHL1-related myopathy

description: A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy.


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


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


name: inositol tetrakisphosphate 1-kinase activity

description: Catalysis of the reaction: 1D-myo-inositol 3,4,5,6-tetrakisphosphate + ATP = 1D-myo-inositol 1,3,4,5,6-pentakisphosphate + ADP.


name: phospholipase C-activating tachykinin receptor signaling pathway

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

description: A phospholipase C-activating receptor G protein-coupled receptor signaling pathway initiated by tachykinin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.


name: phospholipase C-activating endothelin receptor signaling pathway

description: A phospholipase C-activating receptor G protein-coupled receptor signaling pathway initiated by endothelin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.


name: phospholipase C-activating adrenergic receptor signaling pathway

description: A phospholipase C-activating receptor G protein-coupled receptor signaling pathway initiated by ligand binding to an adrenergic receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.


name: phospholipase C-activating angiotensin-activated signaling pathway involved in heart process

description: An angiotensin-mediated signaling pathway that contributes to a circulatory system process carried out by the heart, where the activated receptor transmits the signal via Gq-mediated activation of phospholipase C (PLC). PLC hydrolyses phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers inositol-1,4,5,-triphosphate (IP3) and diacylglycerol (DAG). DAG activates protein kinase C (PKC), whilst IP3 binds intracellular receptors to induce the release of Ca2+ from intracellular stores.


name: phospholipase C-activating opsin-mediated signaling pathway

description: A phospholipase C-activating receptor G protein-coupled receptor signaling pathway that starts with an opsin being activated by a photon, and transmitting the signal through the Gq-mediated activation of phospholipase C (PLC). PLC hydrolyses phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers inositol-1,4,5,-triphosphate (IP3) and diacylglycerol (DAG). The second messengers, including cGMP, activate channels that result in transmission of the light signal  through the synapses. Typical examples are rhabdomeric photoreceptors in the eyes of protostomes.


Placental Villous Fibrosis

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

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


Placental hypertrophy

description: Aberrant growth of the placenta.


name: gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling

description: A wide pore channel activity that enables a direct cytoplasmic connection from an atrial cardiomyocyte to an AV node cell. The gap junction passes electrical signals between the cells contributing to cardiac conduction.


name: gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling

description: A wide pore channel activity that enables a direct cytoplasmic connection from a bundle of His cell to a Purkinje myocyte. The gap junction passes electrical signals between the cells contributing to cardiac conduction.


name: gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling

description: A wide pore channel activity that enables a direct cytoplasmic connection from an SA node cell to an atrial cardiomyocyte. The gap junction passes electrical signals between the cells contributing to cardiac conduction.


name: gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling

description: A wide pore channel activity that enables a direct cytoplasmic connection from a Purkinje myocyte to a ventricular cardiac muscle cell. The gap junction passes electrical signals between the cells contributing to cardiac conduction.


name: gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling

description: A wide pore channel activity that enables a direct cytoplasmic connection from an AV node cell to a bundle of His cell. The gap junction passes electrical signals between the cells contributing to cardiac conduction.


name: removal of RNA primer involved in mitotic DNA replication

description: Any DNA replication, removal of RNA primer that is involved in mitotic cell cycle DNA replication.


pyrimidine nucleobase fermentation

description: The anaerobic conversion of pyrimidine nucleobases, yielding energy in the form of ATP.


interleukin-4 binding

description: Binding to interleukin-4.


anatomical entity

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

description: Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species.


immaterial anatomical entity

description: Anatomical entity that has no mass.


disconnected anatomical group

description: Material anatomical entity consisting of multiple anatomical structures that are not connected to each other.


embryonic structure

description: Anatomical structure that is part of an embryo.


name: neuron projection bundle connecting eye with brain

description: A neuron projection bundle that connects the retina or its analog in the eye with the brain. This includes the vertebrate optic nerve (not truly a nerve) as well as analogous structures such as the Bolwig nerve in Drosophila.


insect adult nervous system

description: Nervous system of the adult insect.


anatomical system

description: Multicellular, connected anatomical structure that has multiple organs as parts and whose parts work together to achieve some shared function.


name: insect embryonic/larval digestive system

description: Digestive system of the insect embryo or larva.


acellular anatomical structure

description: Anatomical structure that consists of cell parts and cell substances and together does not constitute a cell or a tissue.


non-connected functional system

description: An anatomical group whose component structures share a common function.


coelemic cavity lumen

description: The cavity within the body of all animals higher than the coelenterates and certain primitive worms, formed by the splitting of the embryonic mesoderm into two layers. In mammals it forms the peritoneal, pleural, and pericardial cavities.


multi cell part structure

description: A structure consisting of multiple cell components but which is not itself a cell and does not have (complete) cells as a part.


material anatomical entity

description: Anatomical entity that has mass.


open tracheal system

description: An open tracheal system is a respiratory system, a branched network of epithelial tubes that supplies oxygen to target tissues via spiracles. An example of this is found in Drosophila melanogaster.


sensory nerve

description: A nerve that transmits from sensory receptors on the surface of the body to the central nervous system.


organism substance

description: Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body.


axon tract

description: A group of axons linking two or more neuropils and having a common origin, termination[FBbt].


neuron projection bundle

description: A fasciculated bundle of neuron projections (GO:0043005), largely or completely lacking synapses.


anatomical structure

description: Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome.


insect supraesophageal ganglion

description: The pre-oral neuropils of the brain located above and some of it below the esophagus, comprising three fused ganglia (protocerebrum, deutocerebrum, and tritocerebrum) in the head.


anatomical cluster

description: Anatomical group whose component anatomical structures lie in close proximity to each other.


reproductive system

description: Anatomical system that has as its parts the organs concerned with reproduction.


insect embryonic/larval nervous system

description: Nervous system of the embryo/larva.


insect adult cerebral ganglion

description: The pre-oral neuropils of the adult brain located above, around and partially below the esophagus, including the optic lobes. It excludes the gnathal ganglion. Developmentally, it comprises three fused neuromeres: protocerebrum, deutocerebrum, and tritocerebrum.


Grade 3 Colon Adenocarcinoma

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


name: negative regulation of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate catabolic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate catabolic process.


description: Catalysis of the reaction: 2-oxo-9-methylthiononanoate + acetyl-CoA + H2O = H+ + 2-(7'-methylthio)heptylmalate + coenzyme A.


striated duct of salivary gland

description: Gland duct which connects an intercalated duct to an interlobular duct in a salivary gland.


parotid gland striated duct

description: Any of the intralobular secretory duct of the parotid gland which connects an intercalated duct to an interlobular excretory duct; striated ducts are lined by cuboidal to columnar acidophilic cells and are so-named because of characteristic striations in the basal portions of the cells which are due to the alignment of mitochondria between deep infoldings of the basal cell membrane; the nucleus is in the central part of the cell above the striations; as they approach the excretory ducts, their diameter may exceed that of the acini; striated ducts reabsorb sodium and secrete potassium.


name: detection of low humidity stimulus involved in sensory perception

description: The series of events in which a low humidity stimulus is detected and converted into a molecular signal as a part of the sensory detection of low humidity.


name: negative regulation of ethylene biosynthetic process

description: Any process that stops, prevents, or reduces the frequency, rate or extent of an ethylene biosynthetic process.


name: negative regulation of isoprene metabolic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of isoprene metabolic process.


cyanelle outer membrane

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

description: The outer, i.e. cytoplasm-facing, lipid bilayer of the cyanelle envelope.


disorder of glutamate decarboxylase

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


plant-type hypersensitive response

description: The rapid, localized death of plant cells in response to invasion by a pathogen.


name: symbiont-induced defense-related programmed cell death

description: Cell death resulting from activation of endogenous cellular processes after interaction with a symbiont (defined as the smaller of two, or more, organisms engaged in symbiosis, a close interaction encompassing mutualism through parasitism). This can be triggered by direct interaction with the organism, for example, contact with penetrating hyphae of a fungus; or an indirect interaction such as symbiont-secreted molecules.


mesonephros

description: The second stage of the kidney. It serves as the main excretory organ of aquatic vertebrates and as a temporary embryonic kidney in higher vertebrates. It is composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo.


replication compartment

description: Globular nuclear domains where the transcription and replication of the viral genome occurs. More than one site can be present simultaneously.


nuclear viral factory

description: A viral factory located in the nucleus of a host cell.


peristromal region viral factory

description: A nuclear viral factory formed at the periphery of the host cell nucleus by Baculoviruses.


virogenic stroma

description: A nuclear viral factory formed by Baculoviruses. A vesicular structure in which virions are assembled.


positive regulation of timing of anagen

description: Any process that activates or increases the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle.


positive regulation of timing of exogen

description: Any process that activates or increases the frequency, rate or extent of timing of exogen, the shedding phase of the hair cycle.


tendon sheath lipoma

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


benign synovial neoplasm

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


name: tenosynovial giant cell tumor, localized type

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


name: tenosynovial giant cell tumor, diffuse type

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


intestinal hypomagnesemia 1

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


intercostal artery

description: One of a group of arteries that supply the area between the ribs ('costae'), called the intercostal space.


anterior intercostal artery

description: The anterior intercostal branches of internal thoracic artery supply the upper five or six intercostal spaces.


dorsal intercostal artery

description: The highest intercostal artery (supreme intercostal artery, superior intercostal artery) is an artery in the human body that usually gives rise to the first and second posterior intercostal arteries, which supply blood to their corresponding intercostal space. It usually arises from the costocervical trunk, which is a branch of the subclavian artery.


cellular response to tumor cell

description: 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 stimulus from a tumor cell.


respiratory burst after phagocytosis

description: A phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.


name: respiratory burst involved in inflammatory response

description: A phase of elevated metabolic activity, during which oxygen consumption increases following a stimulus as part of an inflammatory response; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, resulting in an increase in their intracellular or extracellular levels.


(S)-bopindolol

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


name: positive regulation of early stripe melanocyte differentiation

description: Any process that activates or increases the frequency, rate or extent of early stripe melanocyte differentiation.


name: positive regulation of late stripe melanocyte differentiation

description: Any process that activates or increases the frequency, rate or extent of late stripe melanocyte differentiation.


rifamycin SV

A member of the class of rifamycins that exhibits antibiotic and antitubercular properties.


imidazobenzazepine

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


dibenzooxazepine

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


organic heterotricyclic compound

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


(R)-profenamine

The (R)-enantiomer of profenamine.


phenazines

Any  organonitrogen heterocyclic compound based on a phenazine skeleton and derivatives.


A 9,10-dimethoxy-3-isobutyl-1,3,4,6,7,11b-hexahydro-2H-pyrido[2,1-a]isoquinolin-2-one in which both stereocentres have R configuration.


(S)-aceprometazine

The (S)-enantiomer of aceprometazine.


phenothiazine

The 10H-tautomer of phenothiazine.


clopenthixol

A thioxanthene derivative having a chloro substituent at the 2-position and an alkylidene group at the 10-position with undefined double bond stereochemistry.


imidazobenzodiazepine

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


psoralens

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


furanocoumarin

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


(S)-etodolac

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


(R)-carprofen

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


(S)-carprofen

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


pyranobenzodioxin

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


(R)-aceprometazine

The (R)-enantiomer of aceprometazine.


pyridochromene

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


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


tetrabenazine

A 9,10-dimethoxy-3-isobutyl-1,3,4,6,7,11b-hexahydro-2H-pyrido[2,1-a]isoquinolin-2-one in which both stereocentres have S configuration.


aminoacridine

Acridines which are substituted in any position by one or more amino groups or substituted amino groups. Note that the term 'aminoacridine' is the International Prorietary Name (INN) for 9-aminoacridine.


benzoquinolizine

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


dipyridodiazepine

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


flavin

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


pyridobenzodiazepine

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


flupenthixol

A thioxanthene derivative having a trifluoromethyl substituent at the 2-position and a 3-(4-(2-hydroxyethyl)piperazin-1-yl)propylidene group at the 10-position with undefined double bond stereochemistry.


(S)-profenamine

The (S)-enantiomer of profenamine.


triazolobenzodiazepine

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


thioxanthenes

Thioxanthene and its substitution derivatives.


oxazinoquinoline

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


Functioning Lung Carcinoid Tumor

description: A lung neuroendocrine tumor that is associated with carcinoid syndrome.


name: alpha1-beta1 integrin-tyrosine-protein phosphatase non-receptor type 2 complex

description: A protein complex that consists of an alpha1-beta1 integrin complex bound to tyrosine-protein phosphatase non-receptor type 2.


name: hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

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


skin of knee

description: A zone of skin that is part of a knee [Automatically generated definition].


name: ventral mesentery of mesentery of foregut-midgut junction


mesentery of foregut-midgut junction

description: A mesentery that is part of a foregut-midgut junction.


name: dorsal mesentery of mesentery of foregut-midgut junction


rhizobactin 1021 biosynthetic process

description: The chemical reactions and pathways resulting in the formation of rhizobactin 1021, (E)-4-((3-(acetylhydroxyamino)propyl)-amino)-2-hydroxy-(2-(2-(3-(hydroxy(1-oxo-2-decenyl)amino)propyl)amino)-2-oxoethyl)-4-oxobutanoic acid, a siderophore produced by Sinorhizobium meliloti.


tertiary alcohol metabolic process

description: The chemical reactions and pathways involving tertiary alcohol.


rhizobactin 1021 metabolic process

description: The chemical reactions and pathways involving rhizobactin 1021, (E)-4-((3-(acetylhydroxyamino)propyl)-amino)-2-hydroxy-(2-(2-(3-(hydroxy(1-oxo-2-decenyl)amino)propyl)amino)-2-oxoethyl)-4-oxobutanoic acid, a siderophore produced by Sinorhizobium meliloti.


cis-abienol biosynthetic process

description: The chemical reactions and pathways resulting in the formation of cis-abienol.


tetracenomycin C catabolic process

description: The chemical reactions and pathways resulting in the breakdown of tetracenomycin C.


tetracenomycin C metabolic process

description: The chemical reactions and pathways involving tetracenomycin C.


neosartoricin biosynthetic process

description: The chemical reactions and pathways resulting in the formation of neosartoricin.


paxilline biosynthetic process

description: The chemical reactions and pathways resulting in the formation of paxilline, a mycotoxin that acts as an inhibitor of mammalian maxi-K channels.


rhodopsin catabolic process

description: The chemical reactions and pathways resulting in the breakdown of rhodopsin, a brilliant purplish-red, light-sensitive visual pigment found in the rod cells of the retinas.


asperfuranone catabolic process

description: The chemical reactions and pathways resulting in the breakdown of asperfuranone.


viridicatumtoxin biosynthetic process

description: The chemical reactions and pathways resulting in the formation of viridicatumtoxin, a tetracycline-like fungal meroterpenoid with a unique, fused spirobicyclic ring system.


neosartoricin metabolic process

description: The chemical reactions and pathways involving neosartoricin.


asperfuranone biosynthetic process

description: The chemical reactions and pathways resulting in the formation of asperfuranone.


tetracenomycin C biosynthetic process

description: The chemical reactions and pathways resulting in the formation of tetracenomycin C.


tertiary alcohol biosynthetic process

description: The chemical reactions and pathways resulting in the formation of tertiary alcohol.


cis-abienol metabolic process

description: The chemical reactions and pathways involving cis-abienol.


cis-abienol catabolic process

description: The chemical reactions and pathways resulting in the breakdown of cis-abienol.


neosartoricin catabolic process

description: The chemical reactions and pathways resulting in the breakdown of neosartoricin.


paraherquonin biosynthetic process

description: The chemical reactions and pathways resulting in the formation of paraherquonin, a meroterpenoid with a unique, highly congested hexacyclic molecular architecture.


asperfuranone metabolic process

description: The chemical reactions and pathways involving asperfuranone.


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


inborn organic aciduria

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


3-hydroxyisobutyric aciduria

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


isovaleric acidemia

description: Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.


maple syrup urine disease

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


glutaric acidemia type 3

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


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


3-methylglutaconic aciduria type 3

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


beta-ketothiolase deficiency

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


3-methylglutaconic aciduria type 4

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


name: vitamin B12-responsive methylmalonic acidemia, type cblDv2


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

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


methylmalonic aciduria, cblB type

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


name: methylmalonate semialdehyde dehydrogenase deficiency


maple syrup urine disease type 1A

description: A maple syrup urine disease caused by mutations in BCKDHA.


name: methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

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


name: thiamine-responsive maple syrup urine disease

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


multiple carboxylase deficiency

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


malonic aciduria

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


name: methylmalonic aciduria and homocystinuria

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


name: vitamin B12-unresponsive methylmalonic acidemia type mut0

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


pyruvate dehydrogenase E3 deficiency

description: Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.


methylmalonic aciduria, cblA type

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


name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

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


name: combined malonic and methylmalonic acidemia

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


name: methylmalonic acidemia with homocystinuria, type cblX


name: methylmalonic aciduria and homocystinuria type cblD

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


3-methylglutaconic aciduria type 5

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


maple syrup urine disease type 1B

description: A maple syrup urine disease caused by mutations in BCKDHB.


intermediate maple syrup urine disease

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


name: methylmalonic aciduria and homocystinuria type cblF

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


name: methylmalonic aciduria and homocystinuria type cblC

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


intermittent maple syrup urine disease

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


name: 3-methylcrotonyl-CoA carboxylase 1 deficiency

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


3-methylglutaconic aciduria type 1

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


holocarboxylase synthetase deficiency

description: A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.


name: 3-methylcrotonyl-CoA carboxylase 2 deficiency

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


name: methylmalonic acidemia due to transcobalamin receptor defect

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


biotinidase deficiency

description: Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.


classic maple syrup urine disease

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


name: methylmalonic acidemia with homocystinuria, type cblJ

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


glutaryl-CoA dehydrogenase deficiency

description: Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.


maple syrup urine disease type 2

description: A maple syrup urine disease caused by mutations in DBT.


name: vitamin B12-unresponsive methylmalonic acidemia type mut-

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


3-hydroxy-3-methylglutaric aciduria

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


name: vitamin B12-responsive methylmalonic acidemia

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


Hub1 activating enzyme activity

description: Catalysis of the activation of the small ubiquitin-related modifier Hub1, through the formation of an ATP-dependent high-energy thiolester bond.


sulfopyruvate decarboxylase activity

description: Catalysis of the reaction: 3-sulfopyruvate + H+ = CO2 + sulfoacetaldehyde.


optic nerve formation

description: The process that gives rise to the optic nerve. This process pertains to the initial formation of a structure from unspecified parts. The sensory optic nerve originates from the bipolar cells of the retina and conducts visual information to the brainstem. The optic nerve exits the back of the eye in the orbit, enters the optic canal, and enters the central nervous system at the optic chiasm (crossing) where the nerve fibers become the optic tract just prior to entering the hindbrain.


name: Unresectable Pleural Sarcomatoid Mesothelioma

description: Pleural sarcomatoid mesothelioma that is not amenable to surgical resection.


Pleural Desmoplastic Mesothelioma

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


name: Unresectable Peritoneal Epithelioid Mesothelioma

description: Peritoneal epithelioid mesothelioma that is not amenable to surgical resection.


name: Unresectable Paratesticular Sarcomatoid Mesothelioma

description: Paratesticular sarcomatoid mesothelioma that is not amenable to surgical resection.


Paratesticular Epithelioid Mesothelioma

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


Desmoplastic mesothelioma

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


Peritoneal Epithelioid Mesothelioma

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


malignant biphasic mesothelioma

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


name: Unresectable Paratesticular Epithelioid Mesothelioma

description: Paratesticular epithelioid mesothelioma that is not amenable to surgical resection.


Peritoneal Biphasic Mesothelioma

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


name: Unresectable Pleural Biphasic Mesothelioma

description: Pleural biphasic mesothelioma that is not amenable to surgical resection.


name: Unresectable Paratesticular Biphasic Mesothelioma

description: Paratesticular biphasic mesothelioma that is not amenable to surgical resection.


Paratesticular Sarcomatoid Mesothelioma

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


name: Unresectable Peritoneal Sarcomatoid Mesothelioma

description: Peritoneal sarcomatoid mesothelioma that is not amenable to surgical resection.


pleural biphasic mesothelioma

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


Advanced Epithelioid Mesothelioma

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


sarcomatoid mesothelioma

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


pleural sarcomatoid mesothelioma

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


Paratesticular Biphasic Mesothelioma

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


name: Unresectable Pleural Epithelioid Mesothelioma

description: Pleural epithelioid mesothelioma that is not amenable to surgical resection.


Recurrent Epithelioid Mesothelioma

description: The reemergence of epithelioid mesothelioma after a period of remission.


pleural epithelioid mesothelioma

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


name: Unresectable Peritoneal Biphasic Mesothelioma

description: Peritoneal biphasic mesothelioma that is not amenable to surgical resection.


Peritoneal Sarcomatoid Mesothelioma

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


malignant epithelioid mesothelioma

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


name: antigen processing and presentation initiated by pattern recognition receptor mediated uptake of antigen

description: Antigen processing and presentation which is initiated by uptake of antigen bound to a cell surface pattern recognition receptor (PRR).


name: negative regulation of mast cell proliferation

description: Any process that stops, prevents or reduces the rate or extent of mast cell proliferation.


oculocutaneous albinism type 4

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


name: embryonic heart tube dorsal/ventral pattern formation

description: The regionalization process in which the areas along the dorsal/ventral axis of the embryonic heart tube are established. This process will determine the patterns of cell differentiation along the axis.


lateral line nerve development

description: The process whose specific outcome is the progression of the lateral line nerve over time, form its formation to the mature structure. Lateral line nerves project primarily to an octavolateralis column in the hindbrain that consists of the medial octavolateralis nucleus (MON), the caudal octavolateralis nucleus, and the magnocellular nucleus.


name: posterior lateral line nerve development

description: The process whose specific outcome is the progression of the posterior lateral line nerve over time, from its formation to the mature structure. The posterior lateral line nerve innervates hair cells of the PLL and projects to an octavolateralis column in the hindbrain that consists of the medial octavolateralis nucleus (MON), the caudal octavolateralis nucleus, and the magnocellular nucleus.


anterior lateral line nerve development

description: The process whose specific outcome is the progression of the anterior lateral line nerve over time, form its formation to the mature structure. The anterior lateral line nerve contains efferent axons that innervate hair cells of the ALL and afferent axons that project to an octavolateralis column in the hindbrain. The octavolateralis column consists of the medial octavolateralis nucleus (MON), the caudal octavolateralis nucleus, and the magnocellular nucleus.


spleen trabecula formation

description: The process of creating a trabecula in the spleen. A trabecula is a tissue element in the form of a small beam, strut or rod.


liver trabecula formation

description: The process of creating a trabecula in the liver. A trabecula is a tissue element in the form of a small beam, strut or rod.


guanylate cyclase inhibitor activity

description: Binds to and stops, prevents or reduces the activity of guanylate cyclase.


molecular function regulator activity

description: A molecular function regulator regulates the activity of its target via non-covalent binding that does not result in covalent modification to the target. Examples of molecular function regulators include regulatory subunits of multimeric enzymes and channels. Mechanisms of regulation include allosteric changes in the target and competitive inhibition.


name: acetylglutamate kinase regulator activity

description: Binds to and modulates the activity of acetylglutamate kinase.


channel activator activity

description: Direct interaction with a channel (binding or modification), resulting in its opening. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel.


name: gonadotropin hormone-releasing hormone activity

description: The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary.


name: inositol phosphoceramide synthase regulator activity

description: Binds to and modulates the activity of inositol phosphoceramide synthase.


name: histone methyltransferase inhibitor activity

description: Binds to and stops, prevents or reduces the activity of a histone methyltransferase.


name: transmembrane receptor protein tyrosine kinase inhibitor activity

description: Binds to and stops, prevents or reduces the activity of a transmembrane receptor protein tyrosine kinase.


name: chemoattractant activity involved in axon guidance

description: Any chemoattractant activity that is involved in axon guidance.


RNA polymerase inhibitor activity

description: Binds to and stops, prevents or reduces the activity of RNA polymerase.


eclosion hormone activity

description: The action characteristic of eclosion hormone, a peptide hormone that, upon receptor binding, triggers the death of certain muscles and neurons during insect metamorphosis.