ataxia with oculomotor apraxia type 3

description: An autosomal recessive cerebellar ataxia caused by mutation(s) in the PIK3R5 gene, encoding phosphoinositide 3-kinase regulatory subunit 5. It is characterized by oculomotor apraxia and distal muscle atrophy and weakness, predominantly affecting the lower limbs.


name: muscular dystrophy, progressive Pectorodorsal

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


description: A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.


name: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1


hyperparathyroidism, domestic cat

description: Hyperparathyroidism that occurs in domestic cat.


name: flat face-microstomia-ear anomaly syndrome

description: Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.


Peptostreptococcus infectious disease

description: A disease caused by infection with Peptostreptococcus.


serositis, non-human animal

description: Serositis that occurs in non-human animals.


name: short stature-heart defect-craniofacial anomalies syndrome


opportunistic systemic mycosis

description: A mycosis that arises from infection in an immunologically compromised host and is systemic.


Coffin-Siris syndrome 5

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.


benign neoplasm of nasal cavity

description: A benign neoplasm that involves the nasal cavity.


pseudotyphus of California

description: Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, occasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise.


urolithiasis, domestic ferret

description: Urolithiasis that occurs in domestic ferret.


name: autosomal recessive nonsyndromic hearing loss 46

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.


name: DYRK1A-related intellectual disability syndrome

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.


hyper-IgM syndrome type 5

description: Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.


moderately severe hemophilia B

description: Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


name: obesity due to leptin receptor gene deficiency

description: Deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the LEPR gene.


chromosome 6pter-p24 deletion syndrome

description: Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.


immunodeficiency 102

description: An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.


name: tumoral calcinosis, hyperphosphatemic, familial, 3


immunodeficiency 88

description: An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.


non-verbal learning disability

description: A neurodevelopmental disorder characterized by core deficits in visual-spatial processing and a significant discrepancy between verbal and nonverbal intelligence (where verbal intelligence is higher).


name: intellectual developmental disorder, X-linked 108


name: premalignant hematological system disease

description: A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes.


name: Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type


name: CACNA1A-related complex neurodevelopmental disorder

description: A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.


name: agammaglobulinemia 8, autosomal dominant

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene.


X-linked endothelial corneal dystrophy

description: X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.


urolithiasis, dog

description: Urolithiasis that occurs in dog.


eye lymphoma

description: A lymphoma that involves the eye.


Prader-Willi-like syndrome

description: Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities.


entropion, horse

description: Entropion that occurs in horse.


cleft palate, non-human animal

description: Cleft palate that occurs in non-human animals.


patterned macular dystrophy

description: A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.


otopalatodigital syndrome

description: A form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders.


situs inversus, horse

description: Situs inversus that occurs in horse.


amyotrophic lateral sclerosis type 1

description: An inherited form of amyotrophic lateral sclerosis, usually inherited in an autosomal dominant pattern, caused by mutation(s) in the SOD1 gene, encoding superoxide dismutase.


name: spastic paraplegia 87, autosomal recessive


name: panniculitis and localized lipodystrophy


name: hypertrophic osteoarthropathy, primary, autosomal recessive, 2

description: Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.


name: paternal 20q13.2q13.3 microdeletion syndrome

description: Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.


name: isolated focal cortical dysplasia type IIa


isolated arhinencephaly

description: Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.


dysraphism with stalk

description: A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements.


nephrotic syndrome, type 10

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.


ichthyosis, annular epidermolytic 1

description: Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene.


infantile-onset epilepsy

description: Epilepsy starting in the first 12 months of life, including self-limiting and refractory seizures, and epilepsies with and without developmental disorders.


salmonella discitis

description: Discitis caused by infection with Salmonella.


fetal trimethadione syndrome

description: Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.


name: glycerol kinase deficiency, juvenile form

description: Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.


name: Leber-like hereditary optic neuropathy, autosomal recessive 2


autoimmune hemolytic anemia, cold type

description: Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH).


T cell and NK cell immunodeficiency

description: A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency.


epilepsy, cattle

description: Epilepsy that occurs in cattle.


name: contractures, pterygia, and variable skeletal fusions syndrome 1B


distomatosis

description: Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines.


cystic hygroma, pig

description: Cystic hygroma that occurs in pig.


Charcot-Marie-Tooth disease type 1F

description: A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..


urolithiasis, American mink

description: Urolithiasis that occurs in American mink.


idiopathic localized lipodystrophy

description: Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).


dermatosis papulosa nigra

description: A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body.


hydranencephaly, non-human animal

description: Hydranencephaly that occurs in non-human animals.


autoimmune bullous skin disease

description: An autoimmune disease characterized by blisters on the skin.


polydactyly, Arabian camel

description: Polydactyly that occurs in Arabian camel.


subglottis neoplasm

description: A benign or malignant neoplasm that affects the subglottic area of the larynx.


pulp degeneration

description: Deterioration of the normal pulp tissue.


name: demyelinating hereditary motor and sensory neuropathy


name: severe combined immunodeficiency due to LAT deficiency


PERCHING syndrome

description: Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene.


name: spondyloepimetaphyseal dysplasia, PAPSS2 type

description: A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.


adult cerebellar neoplasm

description: A cerebellar neoplasm that occurs in an adult.


conus spinal cord lipoma

description: A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus.


renal hypoplasia, bilateral, dog

description: Renal hypoplasia, bilateral that occurs in dog.


name: spinocerebellar ataxia, autosomal recessive 32


name: familial median cleft of the upper and lower lips

description: Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.


name: polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis


name: choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

description: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.


name: neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly


name: mitochondrial complex 1 deficiency, nuclear type 30


Cornelia de Lange syndrome 1

description: Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.


deafness dystonia syndrome

description: An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.


pontocerebellar hypoplasia type 3

description: Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.


LAMA5-related multisystemic syndrome

description: A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder.


description: Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.


ring chromosome 10

description: Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.


microcephaly and chorioretinopathy 3

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


name: intellectual disability, autosomal dominant 43

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


primary oculocerebral lymphoma

description: 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.


Strongylida infectious disease

description: Infections with nematodes of the order strongylida.


name: X-linked syndromic intellectual disability

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


complement component 7 deficiency

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


AH amyloidosis

description: 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.


nutritional disorder, non-human animal

description: Nutritional disorder that occurs in non-human animals.


name: microcephaly 5, primary, autosomal recessive

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


name: pyruvate dehydrogenase E1-alpha deficiency

description: Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.


name: viral infectious disease, non-human animal

description: Viral infectious disease that occurs in non-human animals.


name: autoinflammatory disease, systemic, with vasculitis


Kerion celsi

description: 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.


name: combined immunodeficiency due to POLE2 deficiency

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


Oguchi disease-1

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


Helicobacter pylori infectious disease

description: Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.


Beemer-Ertbruggen syndrome

description: Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.


atherosclerosis, non-human animal

description: Atherosclerosis that occurs in non-human animals.


name: combined oxidative phosphorylation defect type 21

description: 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.


familial periodic paralysis

description: 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.


polydactyly, chicken

description: Polydactyly that occurs in chicken.


name: mitochondrial complex 4 deficiency, nuclear type 12


name: intellectual disability, autosomal dominant 29

description: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.


2p13.2 microdeletion syndrome

description: 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.


baker Vinters syndrome

description: 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

description: Infection of ruminants with tapeworms of the genus Moniezia.


acute myeloid leukemia, Monosomy 7

description: 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.)


hypotrichosis 13

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


temtamy preaxial brachydactyly syndrome

description: 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

description: A benign neoplasm that involves the soft palate.


name: neuropathy, hereditary motor and sensory, type 6B

description: 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

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


atrophoderma of Pierini and Pasini

description: Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases.


name: autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the DYNC1H1 gene, encoding cytoplasmic dynein 1 heavy chain 1.


lymphocele

description: A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery.


developmental disorder of mental health

description: 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.


name: Charcot-Marie-Tooth disease axonal type 2X

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


isolated transitional filum lipoma

description: A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma.


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


name: congenital generalized lipodystrophy type 3

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


columnar cell hyperplasia of the breast

description: 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

description: 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

description: A disease involving the vitreous humor.


intellectual disability, X-linked 63

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


orofacial cleft 10

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


Wissler syndrome

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


prekallikrein deficiency, horse

description: Prekallikrein deficiency that occurs in horse.


inborn serine deficiency

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


name: neuronopathy, distal hereditary motor, type 2C

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


name: autosomal recessive nonsyndromic hearing loss 63

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


name: intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly


Waardenburg syndrome type 3

description: Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.


swine erysipelas

description: An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa.


olfactory nerve disorder

description: A disease involving the olfactory nerve.


auditory system benign neoplasm

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


Actinomycetales infectious disease

description: Infections with bacteria of the order actinomycetales.


name: autosomal recessive limb-girdle muscular dystrophy type R18

description: 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.


name: neuronopathy, distal hereditary motor, type 7B

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


subaortic course of innominate vein

description: Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.


name: intellectual developmental disorder, autosomal recessive 71


name: holoprosencephaly 12 with or without pancreatic agenesis


infantile apnea

description: 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.


name: mitochondrial complex IV deficiency, nuclear-type


name: childhood-onset benign chorea with striatal involvement


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

description: 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.


malignant histiocytosis, pig

description: Malignant histiocytosis that occurs in pig.


Marinesco-Sjogren syndrome

description: 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

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


renal dysplasia, domestic cat

description: Renal dysplasia that occurs in domestic cat.


mansonelliasis

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


anterior pituitary gland disorder

description: A disease that involves the adenohypophysis.


hereditary spastic paraplegia 13

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


heterotaxy, visceral, 8, autosomal

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


Joubert syndrome 10

description: Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.


vagus nerve disorder

description: A disease involving the vagus nerve.


name: neurodevelopmental disorder with ataxia, hypotonia, and microcephaly


Blount disease

description: 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

description: 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.


name: symptomatic form of fragile X syndrome in female carrier


acquired angioedema type 2

description: 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.


name: familial adenomatous polyposis due to 5q22.2 microdeletion


name: disorder of thiamine metabolism and transport


hereditary hyperbilirubinemia

description: 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.


name: hypogonadotropic hypogonadism 6 with or without anosmia

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


bird headed-dwarfism, Montreal type

description: 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

description: A malignant vascular neoplasm arising from the aorta.


basaloid follicular hamartoma

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


name: Hodgkin's lymphoma, lymphocytic depletion

description: A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008)


name: patterned dystrophy of the retinal pigment epithelium


name: intellectual disability, autosomal recessive 65


angiomatous meningioma

description: 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

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


paratuberculosis

description: A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis.


name: corpus callosum agenesis-macrocephaly-hypertelorism syndrome


description: Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia.


cutaneous mycosis

description: 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.


name: neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia


pediatric liposarcoma

description: 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

description: 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.


alkaptonuria, crab-eating macaque

description: Alkaptonuria that occurs in crab-eating macaque.


name: facioscapulohumeral muscular dystrophy 2

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


name: autosomal recessive spastic paraplegia type 68


Leber congenital amaurosis 16

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


genito-palato-cardiac syndrome

description: 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.


name: isolated growth hormone deficiency, type 5


Treacher Collins syndrome 2

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


hemophilia B, domestic cat

description: Hemophilia B that occurs in domestic cat.


name: autosomal recessive palmoplantar keratoderma and congenital alopecia

description: 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

description: 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.


name: X-linked intellectual disability, Sutherland-Haan type


hereditary spastic paraplegia 35

description: 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.


name: Actinobacillus infectious disease, non-human animal

description: Actinobacillus infectious disease that occurs in non-human animals.


name: syndromic X-linked intellectual disability Nascimento type

description: 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.


venereal tumors, veterinary

description: Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur.


Cole-Carpenter syndrome 1

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


name: chromosome 15q13.3 microdeletion syndrome

description: 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

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


Sugarman brachydactyly

description: Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.


name: X-linked intellectual disability, Schutz type


thyroid dyshormonogenesis 3

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene.


brachyolmia, Maroteaux type

description: 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.


congenital myasthenic syndrome 3C

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.


name: intellectual disability, autosomal dominant 52


name: intellectual disability, autosomal recessive 23


white piedra

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


description: 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.


name: hallux varus-preaxial polysyndactyly syndrome

description: Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.


toxoplasmosis, non-human animal

description: Acquired infection of non-human animals by organisms of the genus toxoplasma.


congenital myasthenic syndrome 2A

description: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13.


benign shuddering attacks

description: Uncommon, involuntary movements of the head and upper extremities resembling shivering and straining seen in infants and children during normal activities and without impaired consciousness or epileptiform electroencephalogram (EEG).  Resolution or improvement by age 2 or 3 is often noted.


Bartholin gland neoplasm

description: 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

description: 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

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


torsion dystonia 2

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


name: hypogonadotropic hypogonadism 23 with or without anosmia

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


adult myxoid chondrosarcoma

description: A myxoid chondrosarcoma occurring in adults.


name: autosomal recessive cerebellar ataxia-blindness-deafness syndrome


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


name: lethal congenital contracture syndrome 7

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.


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

description: 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.)


D-2-hydroxyglutaric aciduria 1

description: Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.


entropion, sheep

description: Entropion that occurs in sheep.


polyclonal hypergammaglobulinemia

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


Queensland tick typhus

description: 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

description: Infections with bacteria of the family BACTEROIDACEAE.


name: malignant mixed epithelial and mesenchymal tumor of cervix uteri


renal tubular transport disease

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


name: early-onset immune dysregulation due to DOCK11 complete deficiency


acquired coagulation factor deficiency

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


tinea barbae

description: A dermatophytosis that involves the beard.


name: EGF-related primary hypomagnesemia with intellectual disability


name: autosomal recessive nonsyndromic hearing loss 27

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


atrial fibrillation, non-human animal

description: Atrial fibrillation that occurs in non-human animals.


name: COG8-congenital disorder of glycosylation

description: 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.


pleural disorder

description: A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor.


lesion of sciatic nerve

description: A peripheral nerve lesion that involves the sciatic nerve.


name: intellectual disability, autosomal recessive 13

description: 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

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


syndactyly, Swainson's hawk

description: Syndactyly that occurs in Swainson's hawk.


exhibitionism

description: 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

description: 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

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


decompression sickness

description: 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

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


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


name: immunodeficiency-related disorder, non-human animal

description: Immunodeficiency-Related disorder that occurs in non-human animals.


metabolic disease, non-human animal

description: Metabolic disease that occurs in non-human animals.


ventricular septal defect 3

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


tricho-retino-dento-digital syndrome

description: 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.


name: acute disseminated encephalomyelitis without anti-MOG antibodies


split hand-foot malformation 6

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


maxillary sinusitis

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


description: 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.


name: Phelan-McDermid syndrome, non-human animal

description: Phelan-McDermid syndrome that occurs in non-human animals.


myoclonic epilepsy of Lafora 2

description: Any Lafora disease in which the cause of the disease is a variation in the NHLRC1 gene.


name: Y chromosome infertility due to DAZ1 deletion


iatrogenic disease

description: Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.


5q35 microduplication syndrome

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


aortic aneurysm, familial thoracic 6

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


name: heart defect - tongue hamartoma - polysyndactyly syndrome


name: neurodevelopmental disorder with dysmorphic facies and variable seizures


aleukemic leukemia

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


Fanconi anemia complementation group Q

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


retinitis pigmentosa 18

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


name: microcephaly 23, primary, autosomal recessive


inherited thyroid metabolism disease

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


Adams-Oliver syndrome 1

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


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


Dandy-Walker syndrome, domestic cat

description: Dandy-Walker syndrome that occurs in domestic cat.


Jawad syndrome

description: Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.


otorhinolaryngologic disease

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


lacrimal duct cancer

description: A primary or metastatic malignant neoplasm affecting the lacrimal duct.


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


ventricular septal defect, pig

description: Ventricular septal defect that occurs in pig.


EEM syndrome

description: 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).


trochlear nerve neoplasm

description: A neoplasm involving a trochlear nerve.


hereditary spastic paraplegia 38

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


lichen planopilaris

description: 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

description: A disease involving the nasal cavity.


Actinobacillus infectious disease

description: Infections with bacteria of the genus actinobacillus.


distal trisomy 19q

description: 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.


name: Epstein-Barr virus-associated mesenchymal tumor


name: chronic inflammation of lacrimal passage


name: partial duplication of the long arm of chromosome 17


glycoprotein metabolism disease

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


name: Pelizaeus-Merzbacher disease, classic form

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


polyp of frontal sinus

description: A polyp that involves the frontal sinus.


pontocerebellar hypoplasia type 1A

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


name: immunodeficiency 63 with lymphoproliferation and autoimmunity


van Maldergem syndrome

description: Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.


name: hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

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


disorder of organic acid metabolism

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


name: developmental and epileptic encephalopathy, 12

description: An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.


trichodental syndrome

description: 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

description: 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.


familial thyroglossal duct cyst

description: 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.


McKusick-Kaufman syndrome

description: McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.


name: hypertrophic cardiomyopathy, domestic cat

description: Hypertrophic cardiomyopathy that occurs in domestic cat.


tetradysmelia, cattle

description: Tetradysmelia that occurs in cattle.


erythrocytosis, familial, 4

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


polydactyly, rock pigeon

description: Polydactyly that occurs in rock pigeon.


coenzyme Q10 deficiency, primary, 3

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


dilated cardiomyopathy, sea otter

description: Dilated cardiomyopathy that occurs in sea otter.


OSLAM syndrome

description: 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.


name: autoimmune lymphoproliferative syndrome type 2B

description: 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.


name: spinocerebellar ataxia, autosomal recessive 28


name: trimethylaminuria (fishy taint), non-human animal

description: Trimethylaminuria (fishy taint) that occurs in non-human animals.


name: partial deletion of the long arm of chromosome 3


name: nystagmus 2, congenital, autosomal dominant


epilepsy, chicken

description: Epilepsy that occurs in chicken.


name: peroxisome biogenesis disorder due to PEX12 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.


oocyte maturation defect 2

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


infantile glycine encephalopathy

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


schwannomatosis, cattle

description: Schwannomatosis that occurs in cattle.


atactic disorder

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


name: anterior segment developmental abnormality with extraocular manifestations


acromegaly, dog

description: Acromegaly that occurs in dog.


name: MED12-related intellectual disability syndrome

description: 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.


infectious myositis

description: An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain.


name: early-onset cerebellar ataxia with retained tendon reflexes

description: 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

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


name: late-onset junctional epidermolysis bullosa

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


mesenchymoma

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


triploidy, chicken

description: Triploidy that occurs in chicken.


name: oculocerebrofacial syndrome, Kaufman type


name: sensory ganglionopathy, non-human animal

description: Sensory ganglionopathy that occurs in non-human animals.


Chediak-Higashi syndrome, cattle

description: Chediak-Higashi syndrome that occurs in cattle.


Joubert syndrome and related disorders

description: 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

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


name: neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency


name: negative rheumatoid factor polyarthritis


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


Huntington disease, Rhesus monkey

description: Huntington disease that occurs in Rhesus monkey.


isolated right ventricular hypoplasia

description: 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.


name: congenital disorder of glycosylation with defective fucosylation


mosaic trisomy 17

description: 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

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


name: dihydropyrimidinase deficiency, domestic cat

description: Dihydropyrimidinase deficiency that occurs in domestic cat.


name: autosomal dominant pseudohypoaldosteronism type 1

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


spinocerebellar ataxia type 5

description: 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.


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

description: 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).


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


main bronchus cancer

description: A malignant neoplasm involving the main bronchus.


African iron overload

description: 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.


name: testicular non-seminomatous germ cell tumor

description: 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.


name: craniosynostosis cleft lip palate arthrogryposis


name: childhood testicular mixed germ cell cancer

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


description: A disorder characterized by an enduring pattern of inflexibility, extreme orderliness, and perfectionism which interfere with efficiency and which may manifest in many different contexts, including work and leisure activities, financial matters, and issues of morality or ethics.


Cayman type cerebellar ataxia

description: 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.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

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


name: autosomal recessive combined immunodeficiency due to partial IL6ST deficiency


name: spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type


mosaic variegated aneuploidy syndrome 1

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


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

description: 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.


name: postlingual non-syndromic genetic hearing loss

description: 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.


A lysophosphatidylcholine 20:3 in which the acyl group at position 1 is (5Z,8Z,11Z)-icosatrienoyl (meadoyl) and the hydroxy group at position 2 is unsubstituted.


Circumscribed Morphea

description: 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

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


Deep Circumscribed Morphea

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


polysaccharide sulfate

Any carbohydrate sulfate that is a polysaccharide carrying at least one O-sulfo substituent.


carrageenan

A family of sulfated polysaccharides extracted from red seaweeds. The name is derived from a common name of red algae Chondrus crispus, "carrageen moss" (Irish moss).


A secondary fatty alcohol that is henicosane substituted by a hydroxy group at position 10.


name: Unresectable Skin Squamous Cell Carcinoma

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


Unresectable Skin Carcinoma

description: Skin carcinoma that is not amenable to surgical resection.


Unresectable Skin Basal Cell Carcinoma

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


name: Unresectable Cutaneous Squamous Cell Carcinoma of the Head and Neck

description: Cutaneous squamous cell carcinoma of the head and neck that is not amenable to surgical resection.


Incongruent Visual Field Defect

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

description: Non-identically shaped visual field defect in the same location in both eyes.


Central Visual Field Defect

description: Reduced or abnormal sight in the central visual field.


Peripheral visual field defect

description: Reduced or abnormal sight in the peripheral visual field.


Homonymous Visual Field Defect

description: A bilateral visual field defect on the same side of visual space of each eye (right or left).


Heteronymous Visual Field Defect

description: A bilateral visual field defect on opposite sides of the visual space of each eye (right or left).


Congruent Visual Field Defect

description: Identically shaped visual field defect in the same location in both eyes.


A 1-phosphatidyl-1D-myo-inositol in which the 1- and 2-acyl groups are octadecanoyl and icosatetraenoyl respectively.


A 1-octadecanoyl-2-acyl-sn-glycero-3-phospho-1D-myo-inositol in which the 2-acyl group is specified as (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoyl (arachidonoyl).


alpha-L-fructopyranose

A L-fructopyranose with an alpha-configuration at the anomeric position.


A chloroaniline that consists of two 2-chloroaniline units joined by a methylene bridge.


chloroaniline

Any  substituted aniline carrying at least one chloro group.


A dichloroaniline carrying chloro substituents at positions 2 and 4.


A monochloroaniline that is p-toluidine in which one of the hydrogens that is meta to the amino group is replaced by a chlorine.


A dichloroaniline having the two chloro-substituents at the 3- and 4-positions.


A monochlorobenzene that is the 3-trifluoromethyl derivative of 4-chloroaniline.


A dichloroaniline carrying chloro groups at positions 2 and 5.


A chloroaniline in which the chloro atom is para to the aniline amino group.


name: Small Intestinal Small Cell Neuroendocrine Carcinoma

description: 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

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


A 2-penten-1-ol in which the double bond has (E)-configuration. It is a volatile compound found in cooked mussels, olive oil, fermented cucumber brine and cashew apple juice.


N-acetyl-L-methionyl-L-glutamine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-glutamine.


N-acylammonia

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


N-acetyl-L-methionyl-L-threonine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-threonine.


acetylagmatine

A member of the class of guanidines that is agmatine acetylated at the N4-position.


cetoniacytone A

A member of the class of cyclohexenones that is (1R,5S,6R)-4-amino-5-hydroxy-1-(hydroxymethyl)-7-oxabicyclo[4.1.0]hept-3-en-2-one in which one of the amino hydrogens is replaced by an acetyl group.


A high-mannose oligosaccharide that is alpha-D-Manp-(1->6)-[alpha-D-Manp-(1->2)-alpha-D-Manp-(1->2)-alpha-D-Manp-(1->3)]-beta-D-Manp-(1->4)-beta-D-GlcpNAc-(1->4)-2-D-GlcpNAc inomeric hydroxy group of the terminal N-acetamidoglucose residue has alpha configuration.


A member of the class of quinazolines that is quinazoline which is substituted at positions 2 and 4 by phenyl and (3-acetamidophenyl)nitrilo groups, respectively.


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.


N-acetyl-L-methionyl-L-leucine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-leucine.


N-acetyl-L-methionyl-L-alanine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-alanine.


LACCACID ACID A

A tetrahydroxyanthraquinone that is that is 3,5,6,8-tetrahydroxy-9,10-anthraquinone substituted by two carboxy groups at positions 1 and 2 as well as a 5-(2-acetamidoethyl)-2-hydroxyphenyl group at position 7. The major component of LAC dye together with laccaic acids B, C and D


N-acetyl-L-methionyl-L-serine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-serine.


N-acetyl-L-methionyl-L-tyrosine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-tyrosine.


isoretuline

A monoterpenoid indole alkaloid with formula C21H26N2O2.


A tetrol that is N-(1-iminohexan-2-yl)acetamide in which the four hydroxy substituents are located at positions 3, 4, 5 and 6.


A high-mannose oligosaccharide that is beta-D-mannopyranose in which the hydrogens of hydroxy groups are replaced by an alpha-D-mannopyranosyl-group at position 6, an alpha-D-mannopyranosyl-(1right2)-alpha-D-mannopyranosyl-(1right2)-alpha-D-mannopyranosyl group at position 3, and a chitobiose group at position 1.


A member of the class of quinazolines that is quinazoline which is substituted at positions 2 and 4 by 2-fluorophenyl and (3-acetamidophenyl)nitrilo groups, respectively.


acetylblasticidin S

A member of the class of blasticidins that is blasticidin S in which the side-chain amino group is acetylated.


nikkomycin

A class of nucleoside-peptide antibiotics which inhibit fungal chitin biosynthesis by inhibiting chitin synthase. Generally consist of a heterocyclic moiety (usually a nucleobase), an amino hexuronic acid and an amino acid containing a pyridine ring.


An N-acyl-15-methylhexadecasphing-4-enine-1-phosphocholine in which the acyl group has 21 carbons and 2 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 25 carbons and 0 double bonds.


Any ceramide having 15-methylhexadecasphinganine as the sphingoid component.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 21 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 22 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 26 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 23 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 16 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 19 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 15 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 24 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 14 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 18 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 20 carbons and 0 double bonds.


A N-acyl-15-methylhexadecasphinganine in which the acyl group has 17 carbons and 0 double bonds.


Late Pregnancy Bleeding

description: An abnormal bleeding through the vagina that occurs during the last trimester of pregnancy.


A flavanol that is 3,4-dihydro-2H-chromene which is substituted at positions 3, 4, 5, and 7 by hydroxy groups, and at position 2 by a 3,4,5-trihydroxyphenyl group.


A flavan-3,3',4,4',5,5',7-heptol that has (2R,3S,4S) configuration.


amabiline

A carboxylic ester obtained by formal condensation of the carboxy group of (2S,3S)-2,3-dihydroxy-2-isopropylbutanoic acid with the hydroxy group of (7aS)-2,3,5,7a-tetrahydropyrrolizin-7-ylmethanol.


(-)-(S)-chlorizidine A

An alkaloid natural product containing chlorinated pyrroloisoindolone and pyrrolizine rings found in a marine Streptomyces sp..


SENECIONINE

A pyrrolizidine alkaloid isolated from the plant species of the genus Senecio.


A hydroxy fatty-acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of 2-hydroxyicosanoic acid


A docosanoid that consists of (8E,10Z,13Z,16Z,19Z)-docosapentaenoic acid carrying an oxo substituent at position 7. An intermediate of specialised proresolving mediators.


A glycosylmannose consisting of two D-mannopyranose residues joined by a (1->2) glycosidic bond.


Hemorrhage of rectum and anus

description: Bleeding originating from the rectal wall and anus.


tetflupyrolimet

An N-alkylpyrrolidine that is pyrrolidine substituted by methyl, oxo, (2-fluorophenyl)aminocarbonyl, and 3-(trifluoromethyl)phenyl groups at positions 1, 2, 3, and 4, respectively. It is a herbicide developed by FMC Corporation for the control of grass weeds in rice, as well as key broadleaf weeds and sedges.


A monocarboxylic acid amide obtained by formal condensation between the carboxy group of 3,4-dichlorophenylacetic acid and the secondary amino group of (1R,2R)-N-methyl-2-(pyrrolidin-1-yl)cyclohexanamine


An optically active form of nemonapride having (2S,3S)-configuration.


nemonapride

A benzamide obtained by formal condensation of the carboxy group of 5-chloro-2-methoxy-4-(methylamino)benzoic acid with the amino group of 1-benzyl-2-methylpyrrolidin-3-amine.


A racemate composed of (2S,3S)- and (2R,3R)-enantiomers of nemonapride. Highly potent dopamine D2-like receptor antagonist; selective over D1-like receptors (Ki values are 0.1 and 740 nM for D2-like and D1-like receptors respectively). Also potent 5-HT1A receptor agonist (IC50 = 34 nM) and has affinity for sigma receptors.


(S)-nicotine 1-N-oxide

A member of the class of pyridine N-oxides obtained by oxidation of the pyridine nitrogen of (S)-nicotine.


riviciclib

A synthetic dihydroxyflavone that is 5,7-dihydroxyflavone which is substituted by a (2R,3S)-2-(hydroxymethyl)-1-methylpyrrolidin-3-yl group at position 8 and by a chlorine at the 2' position. A cyclin-dependent kinase inhibitor that exhibits anti-cancer properties.


cotinine N-oxide

An N-alkylpyrrolidine that is nicotine in which the methylene hydrogens at position 2 on the pyrrolidine ring have been replaced by an oxo group and the pyridine nitrogen converted into the corresponding N-oxide. A minor metabolite of nicotine.


description: Hemophagocytic lymphohistiocytosis that is resistant to treatment.


A 1,2-diacyl-sn-glycerol 3-phosphate in which the acyl substituents at positions 1 and 2 are specified as oleoyl and linoleoyl respectively.


An alpha-D-galactoside that is the 2-aminoethyl glycoside of a disaccharide consisting of alpha-D-glucosyl and alpha-D-galactosyl residues linked (1->4).


hydrochlorofluorocarbon

An organochlorine compound derived from methane, ethane or propane that contains atoms of hydrogen, chlorine, fluorine, and carbon only.


Desmoplastic Neurotropic Melanoma

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


Ann Arbor Stage I AIDS-Related Lymphoma

description: 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).


name: Magnesium ammonium phosphate urolithiasis

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


name: Stage IIIB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8

description: 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.)


pyrimidine 5'-deoxyribonucleotide

A 5'-deoxyribonucleotide compound having a pyrimidine-derived nucleobase.


Stage IIIB Colon Cancer AJCC v8

description: 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

description: 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

description: 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

description: 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.)


S-formylglutathione

A S-acylglutathione in which the acyl group specified is formyl.


1-phospho-alpha-D-glucuronic acid

The 1-O-phospho derivative of alpha-D-glucuronic acid.


uronic acid

A carbohydrate acid formally derived by oxidation to a carboxy group of the terminal -CH2OH group of any aldose or ketose.


L-iduronic acid

Any iduronic acid having L-configuration.


A glycosylrhamnose that is 4-deoxy-beta-L-threo-hex-4-enopyranuronose joined by a (1->2)-glycosidic link to alpha-L-rhamnopyranose.


idopyranuronic acid

The pyranose form of iduronic acid.


L-idopyranuronic acid

The L-stereoisomer of idopyranuronic acid.


iduronic acid

A member of the class of  iduronic acids that is the major uronic acid component of the dermatan sulfate and heparin.


A disaccharide consisting of beta-D-glucuronic acid linked (1->3) to a beta-D-galactose residue.


dTDP-D-galacturonic acid

A dTDP-sugar where the sugar component is D-galacturonic acid.


A digalacturonic acid in which an alpha-D-galactopyranuronic acid unit is joined to a D-galactopyranuronic acid unit via an alpha-(1->4)-linkage.


A alpha-D-GalpA-(1->4)-D-GalpA in which the anomeric hydroxy group has alpha- configuration.


arabidopside C

An arabidopside that is arabidopside A in which the hydrogen of the hydroxy group at position 6 of the beta-D-galactosyl moiety is replaced by an alpha-D-galactosyl group.


A C-nucleoside phosphate consisting of N(1)-methylpseudouridine substituted at position 5' by a  monophosphate group.


A 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as dodecanoyl (lauroyl).


A monogalactosyldiacylglycerol 34:4 in which the 1- and 2-acyl groups are specified as oleoyl and (7Z,10Z,13Z)-hexadecatrienoyl respectively.


arabidopside B

An arabidopside in which the glyceride moiety is acylated by cis-12-oxophytodienoyl groups at positions 1 and 2, and in which the and in which the carbohydrate moiety is a beta-D-galactopyranosyl group. The cyclopentenone moiety of both acyl groups is cis-disubstituted.


A 1,2-diacyl-3-(beta-D-galactosyl)-sn-glycerol in which the 1- and 2- acyl groups are specified as (9Z,12Z,15Z)-octadecatrienoyl and (7Z,10Z,13Z)-hexadecatrienoyl respectively.


A 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the 1- and 2-acyl groups are specified as oleoyl and palmitoyl respectively.


A 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the acyl groups at positions 1 and 2 are specified as octanoyl.


A beta-D-galactopyranosyl diglyceride in which both acyl groups have a chain length between C6 and C12.


A 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the groups at the 1- and 2-positions are both palmitoyl.


A 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the groups at the 1- and 2-positions are both linoleoyl (9Z,12Z-octadecadienoyl).


arabidopside A

An arabidopside in which the glyceride moiety is acylated by cis-12-oxophytodienoyl and cis-dinor-oxyphytodienoyl groups at positions 1 and 2, respectively, and in which the carbohydrate moiety is a beta-D-galactopyranosyl group. The cyclopentenone moiety of both acyl groups is cis-disubstituted.


A 1,2-diacyl-3-beta-D-galactosyl-sn-glycerol in which the groups at the 1- and 2-positions are both oleoyl.


A beta-D-galactopyranosyl diglyceride in which both acyl groups have a chain length of C12 or greater.


A class of galactoglycerolipids that consists of any 1,2-diacyl-sn-glycerol having a beta-D-galactosyl residue attached at position 3.


Childhood Malignant Skin Neoplasm

description: A malignant neoplasm that affects the skin and occurs during childhood.


P Wave Abnormality by ECG Finding

description: 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.


An N-substituted pyrraline formed via Maillard reaction of L-ornithine with glucose.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 5.


heptadecanol

A fatty alcohol consisting of a hydroxy function at any position of an unbranched saturated chain of seventeen carbon atoms.


A long-chain primary fatty alcohol that is heptadecane in which one of the terminal methyl hydrogens is replaced by a hydroxy group.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 3.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 7.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 6.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 9.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 4.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 8.


A secondary fatty alcohol that is heptadecane substituted by a hydroxy group at position 2.


S-methyl 3-phospho-1-thio-D-glycerate

The methyl thiolester of 3-phospho-1-thio-D-glyceric acid.


bitolterol

The di-4-toluate ester of (+-)-N-tert-butylnoradrenaline (colterol). A pro-drug for colterol, a beta2-adrenergic receptor agonist, bitolterol is used as its methanesulfonate salt for relief of bronchospasm in conditions such as asthma, chronic bronchitis and emphysema.


diester

A diester is a compound containing two ester groups.


doxacurium chloride

The dichloride salt of doxacurium. It is a mixture of the (1R,2S,1'S,2'R), (1R,2S,1'R,2'S) and (1S,2R,1'S,2'R) stereoisomers (a meso isomer and two enantiomers, respectively) of 2,2'-[(1,4-dioxobutane-1,4-diyl)bis(oxypropane-3,1-diyl)]bis[6,7,8-trimethoxy-2-methyl-1-(3,4,5-trimethoxybenzyl)-1,2,3,4-tetrahydroisoquinolinium] dichloride, all of which are in a trans configuration at the 1 and 2 positions of the tetrahydroisoquinolinium rings. A competitive neuromuscular blocker, it is used to provide muscle relaxation in general anaesthesia and to facilitate mechanical ventilation in patients in intensive care.


A diester that is diethyl succinate in which position 2 is substituted by a (dimethoxyphosphoryl)thio group.


BITOLTEROL MESYLATE

The methanesulfonate salt of bitolterol. A beta2-adrenergic receptor agonist, it is used for relief of bronchospasm in conditions such as asthma, chronic bronchitis and emphysema.


(R)-malathion

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


heliosupine

An azabicycloalkane compound having angelyloxy and echimidinyloxymethyl substituents attached to the ring system.