microcephaly and chorioretinopathy 3

Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.


intellectual disability, autosomal dominant 43

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Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene.


primary oculocerebral lymphoma

Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits.


iron metabolism disease

Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization.


Strongylida infectious disease

Infections with nematodes of the order strongylida.


X-linked syndromic intellectual disability

A syndromic intellectual disability with an X-linked mode of inheritance.


complement component 7 deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.


AH amyloidosis

A rare type of amyloidosis characterized by the monoclonal deposition of immunoglobulin heavy chain fragments in organs and tissues. It is associated with plasma cell or B-cell lymphoproliferative disorders.


microcephaly 5, primary, autosomal recessive

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene.


dopa-responsive dystonia

Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.


childhood acute myeloid leukemia

Acute myeloid leukemia occurring in childhood.


viral infectious disease, non-human animal

Viral infectious disease that occurs in non-human animals.


scleredema adultorum

A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis.


autoinflammatory disease, systemic, with vasculitis


Kerion celsi

A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy.


combined immunodeficiency due to POLE2 deficiency

Any combined immunodeficiency due to a deficiency in the POLE2 gene.


Oguchi disease-1

Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.


primary focal segmental glomerulosclerosis

A form of focal segmental glomerulosclerosis without identifiable etiology. Primary (idiopathic) FSGS has been associated with the presence of circulating permeability factors/cytokines, which cause foot process effacement and proteinuria.


familial periodic paralysis

A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.


lead poisoning

5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs.


paraquat poisoning

Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported.


combined oxidative phosphorylation defect type 21

Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.


penile fibromatosis

Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect.


mitochondrial complex 4 deficiency, nuclear type 12


brachydactyly type E

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.


familial male-limited precocious puberty

Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.


gonococcal urethritis

Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact.


2p13.2 microdeletion syndrome

2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.


Baller-Gerold syndrome

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).


baker Vinters syndrome

A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder.


monieziasis

Infection of ruminants with tapeworms of the genus Moniezia.


acute myeloid leukemia, Monosomy 7

Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.)


lumpy skin disease

A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin.


hypotrichosis 13

Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.


temtamy preaxial brachydactyly syndrome

An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.


benign neoplasm of soft palate

A benign neoplasm that involves the soft palate.


neuropathy, hereditary motor and sensory, type 6B

Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.


hypercalcemia, infantile, 2

Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene.


autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures


developmental disorder of mental health

A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.


acute myeloid leukemia with t(9;11)(p22;q23)


Charcot-Marie-Tooth disease axonal type 2X

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.


inborn serine deficiency

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


congenital generalized lipodystrophy type 3

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.


columnar cell hyperplasia of the breast

A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini.


annular epidermolytic ichthyosis

Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.


vitreous disorder

A disease involving the vitreous humor.


intellectual disability, X-linked 63

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.


orofacial cleft 10

Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene.


Wissler syndrome

A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate.


neuronopathy, distal hereditary motor, type 2C

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene.


uterine cervix neoplasm

A neoplasm (disease) that involves the uterine cervix.


autosomal recessive nonsyndromic hearing loss 63

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


olfactory nerve disorder

A disease involving the olfactory nerve.


auditory system benign neoplasm

A sensory system benign neoplasm that is located in the auditory system.


Actinomycetales infectious disease

Infections with bacteria of the order actinomycetales.


autosomal recessive limb-girdle muscular dystrophy type R18

A form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.


neuronopathy, distal hereditary motor, type 7B

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.


hereditary skeletal muscle disorder

An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.


orbit sarcoma

A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas.


intellectual developmental disorder, autosomal recessive 71


holoprosencephaly 12 with or without pancreatic agenesis


infantile apnea

Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.


Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients.


mitochondrial complex IV deficiency, nuclear-type


myotonia fluctuans

Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.


childhood-onset benign chorea with striatal involvement


spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability

A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder.


anterior cutaneous nerve entrapment syndrome

Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome.


Marinesco-Sjogren syndrome

Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.


platelet-type bleeding disorder 19

Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.


retinal ciliopathy due to mutation in Bardet-Biedl gene


mansonelliasis

A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia.


anterior pituitary gland disorder

A disease that involves the adenohypophysis.


hereditary spastic paraplegia 13

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.


heterotaxy, visceral, 8, autosomal

Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.


vagus nerve disorder

A disease involving the vagus nerve.


neurodevelopmental disorder with ataxia, hypotonia, and microcephaly


Blount disease

Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs.


janus kinase-3 deficiency

Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency.


symptomatic form of fragile X syndrome in female carrier


acquired angioedema type 2

Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


disorder of thiamine metabolism and transport


hereditary hyperbilirubinemia

An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome.


congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.


hypogonadotropic hypogonadism 6 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.


bird headed-dwarfism, Montreal type

Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.


aorta angiosarcoma

A malignant vascular neoplasm arising from the aorta.


basaloid follicular hamartoma

A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy.


autosomal dominant proximal spinal muscular atrophy

Autosomal dominant form of proximal spinal muscular atrophy.


kidney benign neoplasm

A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis.


patterned dystrophy of the retinal pigment epithelium


intellectual disability, autosomal recessive 65


angiomatous meningioma

A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells.


premature ovarian failure 7

Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.


cutaneous mycosis

A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.


neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia


childhood acute megakaryoblastic leukemia

An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood.


pediatric liposarcoma

A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma.


ulna metaphyseal dysplasia syndrome

Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.


variant Creutzfeldt-Jakob disease

A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy.


echinococcosis

A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock.


facioscapulohumeral muscular dystrophy 2

Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.


autosomal recessive spastic paraplegia type 68


Leber congenital amaurosis 16

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.


genito-palato-cardiac syndrome

Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.


isolated growth hormone deficiency, type 5


Treacher Collins syndrome 2

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.


autosomal recessive palmoplantar keratoderma and congenital alopecia

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.


marasmus

The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses.


X-linked intellectual disability, Sutherland-Haan type


hereditary spastic paraplegia 35

Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.


syndromic X-linked intellectual disability Nascimento type

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.


Sagliker syndrome

A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face


late infantile neuronal ceroid lipofuscinosis

A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.


Cole-Carpenter syndrome 1

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.


chromosome 15q13.3 microdeletion syndrome

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.


atrial septal defect 3

Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.


immune system cancer

A malignant neoplasm involving the immune system


X-linked intellectual disability, Schutz type


poliovirus infection

An disease or disorder caused by infection with Enterovirus C.


brachyolmia, Maroteaux type

Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.


intellectual disability, autosomal dominant 52


intellectual disability, autosomal recessive 23


corticobasal degeneration disorder

A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.


white piedra

A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts.


Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.


generalized galactose epimerase deficiency


Bartholin gland neoplasm

A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.


B cell linker protein deficiency

A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.


Meier-Gorlin syndrome 3

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.


torsion dystonia 2

Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.


hypogonadotropic hypogonadism 23 with or without anosmia

Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene.


delusional disorder

A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s).


adult myxoid chondrosarcoma

A myxoid chondrosarcoma occurring in adults.


autosomal recessive cerebellar ataxia-blindness-deafness syndrome


X-linked mandibulofacial dysostosis

X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.


renal tubular acidosis, distal, 4, with hemolytic anemia

Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.


This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss.


acute myeloid leukemia, inv(3)(q21.3;q26.2)

Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.)


eyelid neoplasm

A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma.


polyclonal hypergammaglobulinemia

A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines.


hereditary alopecia

An instance of alopecia that is caused by a modification of the individual's genome.


Queensland tick typhus

A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy.


Bacteroidaceae infectious disease

Infections with bacteria of the family BACTEROIDACEAE.


malignant mixed epithelial and mesenchymal tumor of cervix uteri


renal tubular transport disease

Genetic defects in the selective or non-selective transport functions of the kidney tubules.


acquired factor VII deficiency

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


Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism.


acquired coagulation factor deficiency

Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease.


tinea barbae

A dermatophytosis that involves the beard.


EGF-related primary hypomagnesemia with intellectual disability


autosomal recessive nonsyndromic hearing loss 27

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31.


COG8-congenital disorder of glycosylation

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.


lesion of sciatic nerve

A peripheral nerve lesion that involves the sciatic nerve.


intellectual disability, autosomal recessive 13

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.


premature ovarian failure 9

Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene.


exhibitionism

A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger.


grade III lymphomatoid granulomatosis

A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive.


Fanconi anemia complementation group R

Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene.


decompression sickness

A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death.


familial hypoaldosteronism

Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).


hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature


hereditary nephritis

A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.


salpingo-oophoritis

Inflammation of the fallopian tubes and ovaries.


xeroderma pigmentosum group A

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene.


ventricular septal defect 3

Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.


severe hemophilia A

Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


tricho-retino-dento-digital syndrome

Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.


acute disseminated encephalomyelitis without anti-MOG antibodies


split hand-foot malformation 6

Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.


maxillary sinusitis

An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus.


Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.


Y chromosome infertility due to DAZ1 deletion


neonatal severe primary hyperparathyroidism

Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.


progeroid and marfanoid aspect-lipodystrophy syndrome


5q35 microduplication syndrome

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.


aortic aneurysm, familial thoracic 6

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.


inherited thyroid metabolism disease

An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process.


neurodevelopmental disorder with dysmorphic facies and variable seizures


aleukemic leukemia

A leukemia characterized by the absence of leukemic cells in the peripheral blood.


Fanconi anemia complementation group Q

Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.


retinitis pigmentosa 18

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.


microcephaly 23, primary, autosomal recessive


Niemann-Pick disease, type C1

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.


Adams-Oliver syndrome 1

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.


This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.


otorhinolaryngologic disease

Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.


organophosphate poisoning

A poisoning that is caused by exposure to organophosphate.


lacrimal duct cancer

A primary or metastatic malignant neoplasm affecting the lacrimal duct.


spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant


EEM syndrome

EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).


distal trisomy 19q

Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations.


trochlear nerve neoplasm

A neoplasm involving a trochlear nerve.


hereditary spastic paraplegia 38

A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.


lichen planopilaris

Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus.


nasal cavity disorder

A disease involving the nasal cavity.


Actinobacillus infectious disease

Infections with bacteria of the genus actinobacillus.


Epstein-Barr virus-associated mesenchymal tumor


chronic inflammation of lacrimal passage


partial duplication of the long arm of chromosome 17


mitochondrial DNA depletion syndrome

The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.


glycoprotein metabolism disease

A disease that has its basis in the disruption of glycoprotein metabolic process.


immunodeficiency 63 with lymphoproliferation and autoimmunity


Pelizaeus-Merzbacher disease, classic form

The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.


polyp of frontal sinus

A polyp that involves the frontal sinus.


pontocerebellar hypoplasia type 1A

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.


hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.


disorder of organic acid metabolism

A disease that has its basis in the disruption of organic acid metabolic process.


spinal muscular atrophy, type II

Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


trichodental syndrome

Trichodental syndrome is characterized by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant.


Uner Tan Syndrome

A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations.


splenic tuberculosis

Infection of the spleen with species of mycobacterium.


IgG4-related disease

A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased.


familial thyroglossal duct cyst

Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck.


periapical periodontitis

Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess.


anemia of prematurity

A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition.


IRIDA syndrome

IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.


melanoacanthoma

A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes.


erythrocytosis, familial, 4

Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.


central nervous system calcification-deafness-tubular acidosis-anemia syndrome

This syndrome is characterized by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.


coenzyme Q10 deficiency, primary, 3

Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.


glycogen storage disease due to GLUT2 deficiency

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.


OSLAM syndrome

OSLAM syndrome is characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia.


autoimmune lymphoproliferative syndrome type 2B

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.


spinocerebellar ataxia, autosomal recessive 28


metabolic epilepsy

Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy.


partial deletion of the long arm of chromosome 3


adenomatoid odontogenic tumor

A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare.


nystagmus 2, congenital, autosomal dominant


oocyte maturation defect 2

Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.


anterior segment developmental abnormality with extraocular manifestations


infantile glycine encephalopathy

Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures.


congenital rubella syndrome

An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.


atactic disorder

A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement.


MED12-related intellectual disability syndrome

An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.


early-onset cerebellar ataxia with retained tendon reflexes

Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss.


peeling skin syndrome 5

Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene.


late-onset junctional epidermolysis bullosa

Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood.


bladder benign neoplasm

A benign abnormal growth of the cells that comprise the bladder.


mesenchymoma

A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.


autosomal recessive Stickler syndrome

A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.


oculocerebrofacial syndrome, Kaufman type


Joubert syndrome and related disorders

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.


retinitis pigmentosa 61

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.


neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency


negative rheumatoid factor polyarthritis


factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor


autosomal dominant pseudohypoaldosteronism type 1

Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.


isolated right ventricular hypoplasia

Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.


congenital disorder of glycosylation with defective fucosylation


mosaic trisomy 17

Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.


MERTK-related retinopathy

An inherited retinopathy caused by bi-allelic variants in the MERTK gene.


spinocerebellar ataxia type 5

Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.


xeroderma pigmentosum group F

Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene.


silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders).


Charcot-Marie-Tooth disease, demyelinating, IIA 1H


main bronchus cancer

A malignant neoplasm involving the main bronchus.


African iron overload

African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis.


testicular non-seminomatous germ cell tumor

A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms.


craniosynostosis cleft lip palate arthrogryposis


childhood testicular mixed germ cell cancer

A malignant mixed germ cell neoplasm that arises from the testis during childhood.


eosinophilic meningitis

Meningitis in which eosinophils predominate in the cerebrospinal fluid.


Cayman type cerebellar ataxia

Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.


spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type


mosaic variegated aneuploidy syndrome 1

Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.


acute myeloid leukemia with t(8;16)(p11;p13) translocation

A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.


mitochondrial myopathy with reversible cytochrome C oxidase deficiency


postlingual non-syndromic genetic hearing loss

Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed.


N-malonyltransferase activity

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

Catalysis of the transfer of a malonyl group to a nitrogen atom on the acceptor molecule.


Catalysis of the reaction: 3,4-dichloroaniline + malonyl-CoA = N-(3,4-dichlorophenyl)malonamate + CoA.


Catalysis of the reaction: D-tryptophan + malonyl-CoA = N(2)-malonyl-D-tryptophan + CoA + H+.


Catalysis of the reaction: anthranilate + malonyl-CoA = N-malonylanthranilate + CoA.


Circumscribed Morphea

A type of morphea in which the lesions are circular or ovoid, and may be superficial or deep. The superficial lesions can have an indurated, waxy, ivory colored center with surrounding erythema or violaceous color during the active stage. Deep lesions can be sclerotic and depressed from underlying atrophy, and may show minimal skin color changes. When there are several (greater than or equal to 4), larger (greater than 3cm) lesions on two or more body areas this is classified as "generalized morphea".


Plaque morphea

Circumscribed morphea in which the lesions are restricted to the skin and the immediately underlying subcutaneous tissues.


Deep Circumscribed Morphea

Circumscribed morphea in which the lesions are found in the deep dermis, panniculus, fascia, or superficial muscle.


Unresectable Skin Squamous Cell Carcinoma

Skin squamous cell carcinoma that is not amenable to surgical resection.


Unresectable Skin Carcinoma

Skin carcinoma that is not amenable to surgical resection.


Unresectable Skin Basal Cell Carcinoma

Basal cell carcinoma of the skin that is not amenable to surgical resection.


Unresectable Merkel Cell Carcinoma

Merkel cell carcinoma that is not amenable to surgical resection.


peptidyl-lysine modification to peptidyl-N6-pyruvic acid 2-iminyl-L-lysine

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

The modification of peptidyl-lysine to form peptidyl-N6-pyruvic acid 2-iminyl-L-lysine.


cyclohexylamine oxidase activity

Catalysis of the reaction: cyclohexylamine + O2 + H2O = cyclohexanone + NH3 + hydrogen peroxide.


NEDD8 ligase activity

Catalysis of the transfer of NEDD8 to a substrate protein via the reaction X-NEDD8 + S = X + S-NEDD8, where X is either an E2 or E3 enzyme, the X-NEDD8 linkage is a thioester bond, and the S-NEDD8 linkage is an isopeptide bond between the C-terminal amino acid of NEDD8 and the epsilon-amino group of lysine residues in the substrate.


NEDD8 conjugating enzyme activity

Isoenergetic transfer of NEDD8 from one protein to another via the reaction X-NEDD8 + Y = Y-NEDD8 + X, where both the X-NEDD8 and Y-NEDD8 linkages are thioester bonds between the C-terminal amino acid of NEDD8 and a sulfhydryl side group of a cysteine residue.


Catalysis of the reaction: a flavanone + UDP-D-glucose = a flavanone 7-O-beta-D-glucoside + UDP.


Small Intestinal Small Cell Neuroendocrine Carcinoma

An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the small intestine.  It is characterized by the presence of malignant small cells.


Actinomycetoma

A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by Actinomycetes bacteria.


pyroglutamyl-peptidase activity

Catalysis of the release of the N-terminal pyroglutamyl group from a peptide or protein.


gamma-glutamyl-peptidase activity

Catalysis of the cleavage of a gamma-linked glutamate bond.


leukotriene-C(4) hydrolase

Catalysis of the reaction leukotriene C(4) + H2O= leukotriene D(4) + L-glutamate.


L-mimosine synthase activity

Catalysis of the reaction: 3,4-dihydroxypyridine + O-acetyl-L-serine = 3-(3,4-dihydroxypyridinium-1-yl)-L-alanine + acetate.


4-oxalmesaconate hydratase activity

Catalysis of the reaction: 2-hydroxy-4-oxobutane-1,2,4-tricarboxylate = (1E)-4-oxobut-1-ene-1,2,4-tricarboxylate + H2O.


CCU codon-amino acid adaptor activity

A triplet codon-amino acid adaptor activity that recognizes a CCU codon.


facial modiolus

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

A chiasma of facial muscles held together by fibrous tissue, located lateral and slightly superior to each angle of the mouth. It is important in moving the mouth, facial expression and in dentistry. It derives its motor nerve supply from the facial nerve, and its blood supply from labial branches of the facial artery. It is contributed to by the following muscles: orbicularis oris, buccinator, levator anguli oris, depressor anguli oris, zygomaticus major, risorius quadratus labii superioris, quadratus labii inferioris.


N-acylammonia

A carboxamide obtained by the formal condensation of the carboxy group of any carboxylic acid with ammonia.


A pyrazinecarboxamide in which a 6-oxo-1,6-dihydropyrazine nucleus is substituted on C-5 by a 4-hydroxyphenyl group and on C-2 by a butylcarbamyl group. A synthetic determinant of cefadroxil, it is a promising tool for determining in vitro cross-reactivity to cefadroxil in amoxicillin-allergic patients.


Catalysis of the hydrolysis of (1->4)-alpha-D-glucosidic linkages in polysaccharides so as to remove successive alpha-maltose residues from the non-reducing ends of the chains.


Catalysis of the reaction: 2,3-dihydroxy-2'-carboxybiphenyl + O2 = 2-hydroxy-6-oxo-6-(2-carboxyphenyl)-hexa-2,4-dienoate + H+.


Catalysis of the reaction: (3S,5S)-3,5-diaminohexanoate + H2O + NAD+ = (S)-5-amino-3-oxo-hexanoate + H+ + NADH + NH4.


initiation of appressorium formation

The process in which a relatively unspecialized cell starts to acquire specialized features of the symbiont appressorium to aid in infection of the host. The host is defined as the larger of the organisms involved in a symbiotic interaction.


Catalysis of the reaction: 1,2,3,6-tetrakis-O-galloyl-beta-D-glucose + 1-O-galloyl-beta-D-glucose = 1,2,3,4,6-pentakis-O-galloyl-beta-D-glucose + D-glucose.


cellular response to methanol

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 methanol stimulus.


magnetoreception by sensory perception of chemical stimulus

The series of events required for an organism to receive a chemical stimulus relating to a magnetic field, convert it to a molecular signal, and recognize and characterize the signal. It is believed that organisms such as birds and salamanders use a 'chemical compass': chemical reactions that involve transitions between different spin states can be influenced by magnetic fields and by detecting the different product ratios, these organisms can perceive the direction of the magnetic field. The mechanism by which this is detected is not certain but it may also involve light stimuli.


sensory perception of salty taste

The series of events required to receive a salty taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process.


chlororespiration

A respiratory electron flow (from NAD(P)H to plastoquinone (PQ) and O2) involving both a nonphotochemical reduction and re-oxidation of PQ pool.


negative regulation of neural crest cell fate specification

Any process that stops, prevents or reduces the frequency, rate or extent of neural crest cell fate specification.


negative regulation of neural crest formation

Any process that decreases the rate, frequency, or extent of neural crest formation. Neural crest formation is the formation of the specialized region of ectoderm between the neural ectoderm (neural plate) and non-neural ectoderm. The neural crest gives rise to the neural crest cells that migrate away from this region as neural tube formation procedes.


Foradil

An N-[2-hydroxy-5-(1-hydroxy-2-{[1-(4-methoxyphenyl)propan-2-yl]amino}ethyl)phenyl]formamide in which both of the stereocentres have S configuration.


benzoyl acetate-CoA thiolase activity

Catalysis of the reaction: benzoyl acetyl-CoA + CoA = acetyl-CoA + benzoyl-CoA.


Hemorrhage of rectum and anus

Bleeding originating from the rectal wall and anus.


hydrogenase activity (NAD+, ferredoxin)

Catalysis of the reaction: 2 dihydrogen + NAD + 2 an oxidized ferredoxin = NADH + 3 H+ + 2 a reduced ferredoxin.


positive regulation of chondrocyte development

Any process that activates or increases the frequency, rate or extent of chondrocyte development.


An N-alkylpyrrolidine that consists of N-methylpyrrolidine bearing a pyridin-3-yl substituent at position 2.


proximal epiphysis of metatarsal bone

A proximal epiphysis that is part of a metatarsal bone [Automatically generated definition].


proximal epiphysis of third metatarsal bone

A proximal epiphysis that is part of a metatarsal bone of digit 3 [Automatically generated definition].


proximal epiphysis of first metatarsal bone

A proximal epiphysis that is part of a metatarsal bone of digit 1 [Automatically generated definition].


proximal epiphysis of fifth metatarsal bone

A proximal epiphysis that is part of a metatarsal bone of digit 5 [Automatically generated definition].


proximal epiphysis of second metatarsal bone

A proximal epiphysis that is part of a metatarsal bone of digit 2 [Automatically generated definition].


proximal epiphysis of fourth metatarsal bone

A proximal epiphysis that is part of a metatarsal bone of digit 4 [Automatically generated definition].


regulation of connective tissue replacement involved in inflammatory response wound healing

Any process that modulates the frequency, rate or extent of wound healing connective tissue replacement, which may be replaced with fibrotic material, that occurs as part of an inflammatory response.


negative regulation of connective tissue replacement involved in inflammatory response wound healing

Any process that stops, prevents or reduces the frequency, rate or extent of wound healing connective tissue replacement, which may be replaced with fibrotic material, that occurs as part of an inflammatory response.


positive regulation of connective tissue replacement involved in inflammatory response wound healing

Any process that activates or increases the frequency, rate or extent of wound healing connective tissue replacement, which may be replaced with fibrotic material, that occurs as part of an inflammatory response.


phenylacetyl-CoA hydrolase activity

Catalysis of the reaction: H2O + phenylglyoxylyl-CoA = CoA + H+ + phenylglyoxylate.


SUMO conjugating enzyme activity

Isoenergetic transfer of SUMO from one protein to another via the reaction X-SUMO + Y = Y-SUMO + X, where both the X-SUMO and Y-SUMO linkages are thioester bonds between the C-terminal amino acid of SUMO and a sulfhydryl side group of a cysteine residue.


duodenal gland

A compound tubular submucosal gland found in that portion of the duodenum which is above the hepatopancreatic sphincter (Sphincter of Oddi). The main function of these glands is to produce a mucus-rich alkaline secretion (containing bicarbonate)[WP].


cellular response to diterpene

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 diterpene stimulus.


ATP dimethylallyltransferase activity

Catalysis of the reaction: delta(2)-isopentenyl diphosphate + ATP = diphosphate + N6-(delta(2)-isopentenyl)adenosine 5'-triphosphate.


synaptic vesicle, resting pool

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

A synaptic vesicle belonging to the pool that remain unreleased even after prolonged stimulation causes a saturating degree of vesicular turnover. 50-80% of the total number of synaptic vesicles at a resting terminal bouton are in this pool.


Kidney part

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

Any component of one of the two bean-shaped organs located on each side of the spine in the retroperitoneum, which filters and secrets the metabolic products and minerals from the blood, thus maintaining the homeostasis.


distal convoluted tubule

The first segment of the nephron lying just downstream from the loop of Henle, immediately after the macula densa.


proximal convoluted tubule

The proximal convoluted tubule is the most proximal portion of the proximal tubule and extends from the glomerular capsule to the proximal straight tubule.


glomerular visceral epithelium

The inner (visceral) layer of the renal glomerular capsule, overlying the capillaries, composed of podocytes, and separated from the outer (parietal) layer by the capsular (Bowman's) space[BTO]. This epithelial layer is superficially adjacent to the thickened glomerular basement membrane and is made of podocytes. Beneath the visceral layer lie the glomerular capillaries[WP]. This inner epithelial layer of the glomerular capsule surrounds the capillary endothelial cells and is composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the inner visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space)[MP].


renal convoluted tubule

Any region of a nephron tubule that is convoluted. Examples: distal convoluted tubule, proximal convoluted tuble.


descending limb of loop of Henle

The portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure.


ascending limb of loop of Henle

The distal part of the loop of Henle that is impermeable to water and actively pumps sodium out of the filtrate to generate the hypertonic interstitium that drives countercurrent exchange; it consists of an initial very thin segment lined by simple squamous epithelium followed by a distal thick segment lined by simple cuboidal epithelium[MP].


Irregular Tubule

The irregular portion of the nephron.


macula densa

The macula densa is an area of specialized cells in the distal tubule that makes contact with the vascular pole of the glomerulus[GO].


Renal collecting tube

The final section of a renal tubule in the nephron between the distal convoluted tubule and the ureter comprising of principal and intercalated cells. The collecting tube acts to reabsorb sodium and water while secreting potassium and maintaining acid-base homeostasis.


glomerular parietal epithelium

A single layer of simple squamous epithelium in the glomerular capsule. Does not function in filtration[UBERON]. outer layer of the glomerular capsule composed of a single layer of simple squamous epithelium[MP].


Curved Tube

The curved portion of the nephron.


thebane O-demethylase activity

Catalysis of the reaction: thebaine + 2-oxoglutarate + O2 <=> oripavine + formaldehyde + succinate + carbon dioxide.


Desmoplastic Neurotropic Melanoma

A desmoplastic melanoma characterized by the presence of nerve infiltration by atypical spindled melanocytes.


Ann Arbor Stage I AIDS-Related Lymphoma

Ann Arbor Classification: Stage I: Involvement of a single lymph node region (I); or localized involvement of a single extralymphatic organ or site in the absence of any lymph node involvement (IE) (rare in Hodgkin lymphoma).


Magnesium ammonium phosphate urolithiasis

Urolithiasis in which the composition of the stone(s) is predominantly magnesium ammonium phosphate.


Stage IIIB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

Stage IIIB includes: T3b, N0, M0. T3b: Uterine corpus endometrial stroma sarcoma with tumor infiltrating abdominal tissues at more than one site. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)


dorsal root ganglion

Sensory ganglia located on the dorsal spinal roots within the vertebral column. The spinal ganglion cells are pseudounipolar. The single primary branch bifurcates sending a peripheral process to carry sensory information from the periphery and a central branch which relays that information to the spinal cord or brain. (MSH) * ganglion found on the posterior root of each spinal nerve, composed of the unipolar nerve cell bodies of the sensory neurons of the nerve. (CSP).


lateral line ganglion

Ganglion that develops from a cranial ectodermal placode and contains sensory neurons that innervate a lateral line.


posterior lateral line ganglion

The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system.


trunk ganglion

Ganglion which is located in the trunk.


paravertebral ganglion

Trunk ganglion which is part of a bilaterally paired set of sympathetic ganglia located anterior and lateral to the spinal cord.


epibranchial ganglion

Cranial ganglion which develops from an epibranchial placode.


anterior lateral line ganglion

The anteror lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system.


DMNT synthase activity

Catalysis of the reaction: H+ + (3S,6E)-nerolidol + NADPH + O2 <=> (E)-4,8-dimethyl-1,3,7-nonatriene + buten-2-one + NADP + 2 H2O.


positive regulation of non-professional antigen presenting cell antigen processing and presentation

Any process that activates or increases the frequency, rate, or extent of non-professional antigen presenting cell antigen processing and presentation.


Stage IIIB Colon Cancer AJCC v8

Stage IIIB includes: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)


Stage III Colon Cancer AJCC v8

Stage III includes: IIIA: (T1-T2, N1/N1c, M0); (T1, N2a, M0); IIIB: (T3-T4a, N1/N1c, M0); (T2-T3, N2a, M0); (T1-T2, N2b, M0); IIIC: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2: Four or more regional lymph nodes are positive. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)


Stage IIIC Colon Cancer AJCC v8

Stage IIIC includes: (T4a, N2a, M0); (T3-T4a, N2b, M0); (T4b, N1-N2, M0). T3: Tumor invades through the muscularis propria into pericolorectal tissues. T4a: Tumor invades through the visceral peritoneum (including gross perforation of the bowel through tumor and continuous invasion of tumor through areas of inflammation to the surface of the visceral peritoneum). T4b: Tumor directly invades or adheres to adjacent organs or structures. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N2: Four or more regional lymph nodes are positive. N2a: Four to six regional lymph nodes are positive. N2b: Seven or more regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)


Stage IIIA Colon Cancer AJCC v8

Stage IIIA includes: (T1-T2, N1/N1c, M0); (T1, N2a, M0). T1: Tumor invades the submucosa (through the muscularis mucosa but not into the muscularis propria). T2: Tumor invades the muscularis propria. N1: One to three regional lymph nodes are positive (tumor in lymph nodes measuring 0.2 mm or more), or any number of tumor deposits are present and all identifiable lymph nodes are negative. N1c: No regional lymph nodes are positive, but there are tumor deposits in the subserosa, mesentery, or nonperitonealized pericolic, or perirectal/mesorectal tissues. N2a: Four to six regional lymph nodes are positive. M0: No distant metastasis. (AJCC 8th ed.)


AMP nucleosidase activity

Catalysis of the reaction: AMP + H2O = D-ribose 5-phosphate + adenine.


plasma membrane bounded cell projection assembly

Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon.


dendritic cell dendrite assembly

Formation of dendrites, branched cellular projections (or cytoplasmic extension) that are extended from the surface of a dendritic immune cell, and which enable the cell to sample luminal pathogens and increase the surface area for antigen presentation to T cells.


lamellipodium assembly involved in ameboidal cell migration

Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell that contributes to the directed self propelled movement of a cell.


lateral pseudopodium assembly

The extension of a pseudopodium from the lateral area of a cell.


mating projection formation

The aggregation, arrangement and bonding together of a set of components to form a cell projection in response to mating pheromone. This process is observed in unicellular fungi.


endothelial tip cell filopodium assembly

The assembly of a filopodium, a thin, stiff protrusion extended by the endothelial tip cell of a vascular sprout.


uropod assembly

The assembly of a uropod by rearrangement of the cytoskeleton and overlying membrane.


lamellipodium assembly involved in mesendodermal cell migration

Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell that contributes to the directed self-propelled movement of a mesendodermal cell.


extension of leading cell process to pial surface

The extension of a long process to the pial surface as a cell leaves the ventricular zone.


cytoneme assembly

Formation of a cytoneme, a long, thin and polarized actin-based cytoplasmic extension that projects from a cell.


beta-alanine biosynthetic process via 3-ureidopropionate

The chemical reactions and pathways resulting in the formation of beta-alanine via the intermediate 3-ureidopropionate.


plasma membrane ATP synthesis coupled electron transport

The transfer of electrons through a series of electron donors and acceptors, generating energy that is ultimately used for synthesis of ATP in the plasma membrane.


compound eye cone cell fate determination

The process in which a cell becomes capable of differentiating autonomously into a compound eye cone cell regardless of its environment; upon determination, the cell fate cannot be reversed.


right hepatic duct

The duct that drains bile from the right half of the liver and joins the left hepatic duct to form the common hepatic duct.


Catalysis of the reaction: (1S,4R)-1-hydroxy-2-oxolimonene + NADPH + O2 = NADP+ + OH- + (3R)-3-isopropenyl-6-oxoheptanoate.


negative regulation of B-1 B cell differentiation

Any process that stops, prevents, or reduces the rate of B-1 B cell differentiation.


negative regulation of plasma cell differentiation

Any process that stops, prevents or reduces the frequency, rate or extent of plasma cell differentiation.


positive regulation of core promoter binding

Any process that activates or increases the frequency, rate or extent of core promoter binding.


oxidoreductase activity, acting on other nitrogenous compounds as donors, with a quinone or similar compound as acceptor

Catalysis of an oxidation-reduction (redox) reaction in which a nitrogenous group, excluding NH and NH2 groups, acts as a hydrogen or electron donor and reduces a quinone or similar compound.


pancreatic A cell development

The process whose specific outcome is the progression of a pancreatic A cell over time, from its formation to the mature structure. A pancreatic A cell is a cell in the pancreas that secretes glucagon.


negative regulation of antigen processing and presentation via MHC class Ib

Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of antigen via MHC class Ib.


regulation of antigen processing and presentation via MHC class Ib

Any process that modulates the frequency, rate, or extent of antigen processing and presentation of antigen via MHC class Ib.


regulation of antigen processing and presentation of lipid antigen via MHC class Ib

Any process that modulates the frequency, rate, or extent of antigen processing and presentation of lipid antigen via MHC class Ib.


regulation of antigen processing and presentation of peptide antigen via MHC class Ib

Any process that modulates the frequency, rate, or extent of antigen processing and presentation of peptide antigen via MHC class Ib.


positive regulation of antigen processing and presentation via MHC class Ib

Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen via MHC class Ib.


positive regulation of antigen processing and presentation of peptide antigen via MHC class Ib

Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of peptide antigen via MHC class Ib.


negative regulation of antigen processing and presentation of lipid antigen via MHC class Ib

Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of lipid antigen via MHC class Ib.


negative regulation of antigen processing and presentation of peptide antigen via MHC class Ib

Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of peptide antigen via MHC class Ib.


positive regulation of antigen processing and presentation of lipid antigen via MHC class Ib

Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of lipid antigen via MHC class Ib.


proteolysis by cytosolic proteases associated with antigen processing and presentation

The hydrolysis of a peptide bond or bonds within a protein by cytosolic resident proteases during antigen processing and presentation.


host cell endoplasmic reticulum-Golgi intermediate compartment

A complex system of membrane-bounded compartments located between host cell endoplasmic reticulum (ER) and the host Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi transport.


3',3'-cyclic GMP-AMP binding

Binding to 3',3' cyclic GMP-AMP (cGAMP) nucleotide, a cyclic purine dinucleotide that consists of AMP and GMP units cyclized via 3',5' and 3',5' linkages.


regulation of coreceptor activity

Any process that modulates the rate or frequency of coreceptor activity, combining with an extracellular or intracellular messenger, and in cooperation with a nearby primary receptor, initiating a change in cell activity.


P Wave Abnormality by ECG Finding

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

An electrocardiographic finding for the P wave that is atypical either for the shape, duration, amplitude, axis or polarity. Abnormality of the P wave signifies aberrant propagation of the electrical impulse through the atria.


superior ophthalmic vein

The superior ophthalmic vein begins at the inner angle of the orbit in a vein named the nasofrontal which communicates anteriorly with the angular vein; it pursues the same course as the ophthalmic artery, and receives tributaries corresponding to the branches of that vessel. Forming a short single trunk, it passes between the two heads of the Rectus lateralis and through the medial part of the superior orbital fissure, and ends in the cavernous sinus. The ethmoidal veins drain into the superior ophthalmic vein. Vorticose veins also drain into the superior ophthalmic vein.


13-lipoxin reductase activity

Definition: Catalysis of the reaction: 15-oxolipoxin A4 + NAD(P)H + H+ = 13,14-dihydro-15-oxolipoxin A4 + NAD(P)+.


platelet activating factor catabolic process

The chemical reactions and pathways resulting in the breakdown of platelet activating factor, 2-O-acetyl-1-O-octadecyl-sn-glycero-3-phosphocholine.


positive regulation of glucuronosyltransferase activity

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


(-)-pinoresinol metabolic process

The chemical reactions and pathways involving (-)-pinoresinol.


lignan metabolic process

The chemical reactions and pathways involving lignans, any member of a class of plant metabolites related to lignins. Lignans are usually found as phenylpropanoid dimers in which the phenylpropanoid units are linked tail to tail and thus having a 2,3 dibenzylbutane skeleton, but higher oligomers can also exist.


The chemical reactions and pathways resulting in the breakdown of (+)-secoisolariciresinol.


The chemical reactions and pathways involving (+)-secoisolariciresinol.


lignan catabolic process

The chemical reactions and pathways resulting in the breakdown of lignans, any member of a class of plant metabolites related to lignins. Lignans are usually found as phenylpropanoid dimers in which the phenylpropanoid units are linked tail to tail and thus having a 2,3 dibenzylbutane skeleton, but higher oligomers can also exist.


The chemical reactions and pathways resulting in the formation of (+)-secoisolariciresinol.


(+)-pinoresinol catabolic process

The chemical reactions and pathways resulting in the breakdown of (+)-pinoresinol.


The chemical reactions and pathways resulting in the formation of (+)-3'-hydroxylarreatricin.


(-)-lariciresinol biosynthetic process

The chemical reactions and pathways resulting in the formation of (-)-lariciresinol.


(-)-lariciresinol metabolic process

The chemical reactions and pathways involving (-)-lariciresinol.


lignan biosynthetic process

The chemical reactions and pathways resulting in the formation of lignans, any member of a class of plant metabolites related to lignins. Lignans are usually found as phenylpropanoid dimers in which the phenylpropanoid units are linked tail to tail and thus having a 2,3 dibenzylbutane skeleton, but higher oligomers can also exist.


(-)-lariciresinol catabolic process

The chemical reactions and pathways resulting in the breakdown of (-)-lariciresinol.


The chemical reactions and pathways resulting in the breakdown of (-)-secoisolariciresinol.


The chemical reactions and pathways resulting in the formation of (-)-secoisolariciresinol.


(+)-pinoresinol metabolic process

The chemical reactions and pathways involving (+)-pinoresinol.


(+)-pinoresinol biosynthetic process

The chemical reactions and pathways resulting in the formation of (+)-pinoresinol.


(+)-lariciresinol catabolic process

The chemical reactions and pathways resulting in the breakdown of (+)-lariciresinol.


(-)-pinoresinol catabolic process

The chemical reactions and pathways resulting in the breakdown of (-)-pinoresinol.


(+)-lariciresinol metabolic process

The chemical reactions and pathways involving (+)-lariciresinol.


(+)-lariciresinol biosynthetic process

The chemical reactions and pathways resulting in the formation of (+)-lariciresinol.


The chemical reactions and pathways involving (-)-secoisolariciresinol.


(+)-larreatricin metabolic process

The chemical reactions and pathways involving (+)-larreatricin.


(-)-pinoresinol biosynthetic process

The chemical reactions and pathways resulting in the formation of (-)-pinoresinol.


acyl coenzyme A: isopenicillin N acyltransferase activity

Catalysis of the reaction: octanoyl-CoA + isopenicillin N + H2O <=> H+ + coenzyme A + penicillin K + L-2-aminoadipate.


regulation of branching involved in mammary cord morphogenesis by fat precursor cell-epithelial cell signaling

Any process that modulates the rate, frequency, or extent of branching of the mammary gland cord as a result of a signal being created by a mammary fat precursor cell and its subsequent reception and interpretation by a mammary cord epithelial cell.


lateral root development

The process whose specific outcome is the progression of the lateral root over time, from its formation to the mature structure. A lateral root is one formed from pericycle cells located on the xylem radius of the root, as opposed to the initiation of the main root from the embryo proper.


post-embryonic root development

The process whose specific outcome is the progression of the post-embryonic root over time, from its formation to the mature structure.


detection of phosphate ion

The series of events in which a phosphate ion stimulus is received by a cell and converted into a molecular signal.


diester

A diester is a compound containing two ester groups.


(r)-Malathion

A diethyl 2-[(dimethoxyphosphorothioyl)thio]succinate that is the R-enantiomer of malathion.


(S)-Nisoldipine

A methyl 2-methylpropyl 2,6-dimethyl-4-(2-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate that has S configuration.


(S)-Nicardipine

The S-enantiomer of nicardipine.


(S)-Malathion

A diethyl 2-[(dimethoxyphosphorothioyl)thio]succinate that is the S-enantiomer of malathion.


(R)-Nisoldipine

A methyl 2-methylpropyl 2,6-dimethyl-4-(2-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate that has R configuration.


(R)-Nicardipine

The R-enantiomer of nicardipine.


endocardial endothelium development

The progression of the endocardial endothelium over time, from its initial formation to the mature structure. The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers.


Clinical Stage IIA Gastroesophageal Junction Adenocarcinoma AJCC v8

Stage IIA includes: T1, N1, M0. T1: Tumor invades the lamina propria, muscularis mucosae, or submucosa. N1: Tumor with metastasis in one or two regional lymph nodes. M0: No distant metastasis. (AJCC 8th ed.)


Ectopic Meningioma

A meningothelial neoplasm that arises from an anatomic site outside the intracranial and intraspinal compartments.


Primary Middle Ear Meningioma

A rare extracranial meningioma that arises from the middle ear.


Primary Sinonasal Meningioma

A rare extracranial meningioma that arises from the sinonasal tract.


galactarate dehydratase activity

Catalysis of the reaction: galactarate = 5-dehydro-4-deoxy-D-glucarate + H2O.


Bolwig's organ development

The process whose specific outcome is the progression of the Bolwig's organ over time, from its formation to the mature structure. The larval eye in Drosophila is a relatively simple sensory system composed of Bolwig's organs: two clusters, each composed of 12 photoreceptor cells from which axons extend in a single fascicle to the brain.


morphine receptor activity

Combining with morphine (17-methyl-7,8-didehydro-4,5alpha-epoxymorphinan-3,6alpha-diol), and transmitting the signal across the membrane by activating an associated G-protein.


interleukin-31 production

The appearance of interleukin-31 due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.


respiratory system arterial smooth muscle


regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I

Any process that modulates the frequency, rate or extent of antigen processing and presentation of endogenous peptide antigen via MHC class I.


negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I

Any process that stops, prevents or reduces the frequency, rate or extent of antigen processing and presentation of endogenous peptide antigen via MHC class I.


positive regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I

Any process that activates or increases the frequency, rate or extent of antigen processing and presentation of endogenous peptide antigen via MHC class I.


positive regulation of male pigmentation

Any process that activates or increases the frequency, rate or extent of establishment of a pattern of pigment in males.


rib 7

The seventh rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


rib endochondral element

A rib bone or its cartilage or pre-cartilage precursor.


false rib

A rib that is not directly ventrally connected to the sternum.


rib 11

The eleventh rib has a single articular facet on the head, which is of rather large size. It has no necks or tubercles, and is pointed at its anterior ends. The eleventh has a slight angle and a shallow costal groove. [WP,unvetted].


rib 6

The sixth rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


cervical rib

A rib that is attached to a cervical vertebra.


rib 10

The tenth rib has only a single articular facet on its head. [WP,unvetted].


rib 8

The eighth rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


rib 4

The fourth rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


rib of vertebra 7

Rib that articulates with the parapophysis of the seventh centrum.


lumbar rib

A rib that is attached to a lumbar vertebra.


rib 1

The first rib of the rib cage.


rib 9

The ninth rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


floating rib

A rib that is not connected to sternum or sternal cartilage.


rib 12

In humans: The twelfth rib has a single articular facet on the head, which is of rather large size. It has no necks or tubercles, and is pointed at its anterior ends. The twelfth has angle nor costal groove; it is much shorter than the eleventh rib, and its head is inclined slightly downward. Sometimes the twelfth rib is even shorter than the first rib. [WP,unvetted].


trunk rib

Rib located in the trunk (ribcage) area (i.e. excluding cervical and caudal axial series.


sacral rib

Elements of the sacrum joining true sacral vertebrae to pelvis [12th edition of Henderson's Dictionary of Biological terms].


rib of vertebra 3

Rib that articulates with the parapophysis of the third centrum.


rib 2

The second rib of the rib cage.


rib of vertebra 6

Rib that articulates with the parapophysis of the sixth centrum.


rib 3

The third rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


presacral rib

Rib located anterior to the sacral region.


rib of vertebra 5

Rib that articulates with the parapophysis of the fifth centrum.


rib 5

The fifth rib counting from the top of the rib cage down. Note that members of this class are not necessarily homologous[ncit,modified].


true rib

A rib that is ventrally connected to the sternum.


rib of vertebra 4

Rib that articulates with the parapophysis of the fourth centrum.


rib of vertebra 1

Rib that articulates with the parapophysis of the first centrum.


rib of vertebra 2

Rib that articulates with the parapophysis of the second centrum.


triglyceride acyl-chain remodeling

Remodeling the acyl chains of triacylglycerol, through sequential deacylation and re-acylation reactions, to generate triacylglycerol containing different types of fatty acid acyl chains.


Hodgkin's disease mixed cellularity stage II subdiaphragmatic


Ann Arbor Stage II Mixed Cellularity Classic Hodgkin Lymphoma

Ann Arbor Classification: Stage II: Involvement of two or more lymph node regions on the same side of the diaphragm (II); or localized involvement of a single extralymphatic organ or site in association with regional lymph node involvement with or without involvement of other lymph node regions on the same side of the diaphragm (IIE).


Hodgkin's disease mixed cellularity stage II supradiaphragmatic


Catalysis of the reaction: L-phenylalanine + 2 NADPH + 2 O2 + 2 H+ <=> (E)-phenylacetaldehyde oxime + 2 NADP + 3 H2O + carbon dioxide.


RNA exonuclease activity, producing 3'-phosphomonoesters

Catalysis of the hydrolysis of ester linkages within ribonucleic acids by removing nucleotide residues from the 3' or 5' end to yield 3' phosphomonoesters.


exonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 3'-phosphomonoesters

Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 3' or 5' end to yield 3' phosphomonoesters.


exodeoxyribonuclease VII activity

Catalysis of the exonucleolytic cleavage in either 5' to 3' or 3' to 5' direction to yield 5'-phosphomononucleotides.


DNA 5'-adenosine monophosphate hydrolase activity

Catalysis of the reaction: 5'-AMP-DNA + H2O = AMP + DNA; nucleophilic release of a covalently linked adenylate residue from a DNA strand, leaving a 5' phosphate terminus.


exoribonuclease II activity

Catalysis of the reaction: RNA + H2O = 5'-phosphomononucleotides. Cleaves RNA in the 3' to 5' direction.


exoribonuclease H activity

Catalysis of the exonucleolytic cleavage of RNA to 5'-phosphomonoester oligonucleotides in both 5' to 3' and 3' to 5' directions.


ribonuclease D activity

Catalysis of the exonucleolytic cleavage that removes extra residues from the 3'-terminus of tRNA to produce 5'-mononucleotides.


poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends

Catalysis of 3' exonucleolytic cleavage of poly(U), to form poly(U)-N containing a 3' uridine cyclic phosphate (U>P).


5'-3' RNA exonuclease activity

Catalysis of the sequential cleavage of mononucleotides from a free 5' terminus of an RNA molecule.


exodeoxyribonuclease V activity

Catalysis of the exonucleolytic cleavage (in the presence of ATP) in either 5' to 3' or 3' to 5' direction to yield 5'-phosphooligonucleotides.


3'-5'-exoribonuclease activity involved in mature miRNA 3'-end processing

Catalysis of the sequential cleavage of mononucleotides from a free 3' terminus of an RNA molecule that contributes to forming distinct miRNA isoforms from a mature miRNA.


double-stranded DNA 5'-3' exodeoxyribonuclease activity

Catalysis of the sequential cleavage of mononucleotides from a free 5' terminus of a double-stranded DNA molecule.


D-tyrosine catabolic process

The chemical reactions and pathways resulting in the breakdown of D-tyrosine.


D-tyrosine metabolic process

The chemical reactions and pathways involving D-tyrosine.


promoter-enhancer loop anchoring activity

Bridging together two cis-regulatory elements, colloquially referred to as promoters and/or enhancers, holding two loop anchors together to maintain a chromatin loop.


epithelial cell migration, open tracheal system

The orderly movement of epithelial cells during development of an open tracheal system. An example of this is found in Drosophila melanogaster.


delta-Tocotrienol

A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2 and 8 and a farnesyl chain at position 2.


chromanol

Any member of the class of chromanes that is chromane substituted by one or more hydroxy groups.


The (S,R,S)-stereoisomer of alpha-tocopherol.