mosaic trisomy 20

description: Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.


name: spondylometaphyseal dysplasia, Golden type

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

description: Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.


name: neurodevelopmental disorder with hypotonia and characteristic brain abnormalities


name: agammaglobulinemia, autosomal recessive, due to BOB1 deficiency

description: Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene.


branchial arch disease

description: A disease that involves the pharyngeal system development.


name: maternal uniparental disomy of chromosome 1

description: Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


name: respiratory papillomatosis, juvenile recurrent, congenital


name: T-B+ severe combined immunodeficiency due to CD45 deficiency


specific language disorder

description: A disorder characterized by impairment of verbal communication skills, often resulting from brain damage.


name: isolated Dandy-Walker malformation with hydrocephalus


posterior corneal dystrophy

description: Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.


name: lissencephaly with cerebellar hypoplasia type A

description: Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernible gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.


name: short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies


chorea gravidarum

description: A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)


name: central nervous system organ benign neoplasm

description: A benign neoplasm that involves the central nervous system.


blue diaper syndrome

description: Blue Diaper syndrome is a hereditary metabolic disorder characterized by hypercalcaemia with nephrocalcinosis and indicanuria.


primary thrombocytopenia

description: Evidence of other primary thrombocytopenia not specified elsewhere.


spirillary rat-bite fever

description: Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia.


name: mitochondrial complex 4 deficiency, nuclear type 10


name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2


name: neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment


name: sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis


dentigerous cyst

description: Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation.


name: developmental and epileptic encephalopathy 100


name: partial bilateral aplasia of the mullerian ducts


dropped head syndrome

description: A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles.


name: skeletal dysplasia and progressive central nervous system degeneration, lethal


name: neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia


name: idiopathic steroid-sensitive nephrotic syndrome

description: Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits.


name: combined oxidative phosphorylation deficiency 56


name: acute myeloid leukemia, t(8;21)(q22; q22.1)

description: An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules.


active tuberculosis

description: Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease.


limited systemic sclerosis

description: Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin.


cervical adenomyoma

description: A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma.


transient arthritis

description: Arthritis that is not permanent.


name: hemolytic disease of fetus and newborn, RH-induced


necrotizing vasculitis

description: A type of vasculitis that is comprised of vasculitides that present with necrosis.


name: autosomal dominant limb-girdle muscular dystrophy type 1H

description: Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle.


tricuspid valve disorder

description: A disease involving the tricuspid valve.


name: split-hand and split-foot with hypodontia


swine disease

description: Diseases of domestic swine and of the wild boar of the genus Sus.


name: retroperitoneal inflammatory myofibroblastic tumor

description: A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.


pharyngoconjunctival fever

description: A condition characterized by fever, conjunctivitis, and pharyngitis resulting from infection by adenovirus.


distal trisomy 10q

description: Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay.


name: inborn disorder of tryptophan metabolism

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


kwashiorkor

description: A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed)


name: developmental and epileptic encephalopathy 107

description: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the NAPB gene, encoding beta-soluble NSF attachment protein.


congenital ectropion uveae

description: Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities.


delta-heavy chain disease

description: A heavy chain disease that results from an overproduction of delta antibody (IgD).


name: sporadic idiopathic steroid-resistant nephrotic syndrome

description: Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterized by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema.


cardiac tuberculosis

description: Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium.


name: deafness, cataract, retinitis pigmentosa, and sperm abnormalities


name: neurodevelopmental disorder with speech impairment and dysmorphic facies


bladder sarcoma

description: A malignant mesenchymal cell neoplasm that affects the urinary bladder.


peritoneal benign neoplasm

description: A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis.


radiation cystitis

description: Inflammation of the bladder due to irradiation.


bone leiomyosarcoma

description: A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.


malignant childhood germ cell neoplasm

description: A malignant germ cell tumor that occurs during childhood.


name: mesomelic dysplasia-digital anomalies-intellectual disability syndrome


name: dyskeratosis congenita, autosomal recessive 5

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.


name: congenital muscular dystrophy with intellectual disability


X-linked nonsyndromic hearing loss

description: X-linked form of nonsyndromic deafness.


name: primordial dwarfism and slender bone disorder

description: A skeletal dysplsia characterized by primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life and slender bone disorder, a heterogeneous group of neonatal dwarfism syndromes, usually of unknown etiology, associated with gracile (thin) bones, multiple fractures, and prenatal or early postnatal death.


benign neoplasm of floor of mouth

description: A benign neoplasm that involves the mouth floor.


name: autosomal recessive syndromic cerebellar ataxia


chromosome 20 trisomy

description: Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization.


trichostrongylosis

description: Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin.


Kashin-Beck disease

description: Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.


name: idiopathic mast cell activation syndrome

description: Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable.


name: left superior vena cava persisting to left-sided atrium


fungal infection of eye

description: Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses.


name: amastia, bilateral, with ureteral triplication and dysmorphism


Pseudomonas aeruginosa PA14 infection

description: A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14.


salivary duct calculi

description: Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts.


name: RBFOX2-related congenital heart disorder

description: Any congenital heart disease in which the cause of the disease is a mutation in the RBFOX2 gene.


auditory neuropathy

description: A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.


osteonecrosis of genetic origin

description: An instance of osteonecrosis that is caused by a modification of the individual's genome.


nasal glial heterotopia

description: Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported.


name: adenosine triphosphatase deficiency, anemia due to


lipoma of spermatic cord

description: A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions.


name: nebulin-related early-onset distal myopathy


parachute tricuspid valve

description: Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations.


adult-onset Still disease

description: A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.


endometrial polyp

description: A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported.


acute neonatal citrullinemia type I

description: Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.


scleromyxedema

description: Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.


name: global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome


cardiac ventricle disorder

description: A disease or disorder that involves the cardiac ventricle.


tetrasomy 18p

description: Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.


name: syndrome caused by partial chromosomal duplication of the short arm of chromosome 9


name: generalized epilepsy with febrile seizures plus, type 8


name: congenital erosive and vesicular dermatosis


name: neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction


ALECT2 amyloidosis

description: A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.


name: primary cutaneous CD30+ T-cell lymphoproliferative disease


lichen planus, familial

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


group B streptococcal infection

description: A disease caused by infection with Group B Streptococcus.


name: nasopharyngeal carcinoma, susceptibility to, 1

description: Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene.


name: qualitative or quantitative defects of protein SERCA1


name: congenital anomaly of superior vena cava


name: cholestasis with gallstone, ataxia, and visual disturbance


name: progressive supranuclear palsy-corticobasal syndrome

description: PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.


neonatal hemochromatosis

description: Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4


name: autosomal dominant proximal renal tubular acidosis

description: Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications.


name: motor neuron disease with dementia and ophthalmoplegia


name: congenital primary megaureter, refluxing form


GNAT2-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the GNAT2 gene.


laryngeal neuroendocrine neoplasm

description: A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma.


name: autoimmune pulmonary disease due to PD-1 deficiency

description: An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli.


ferro-cerebro-cutaneous syndrome

description: Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth.


name: qualitative or quantitative defects of dysferlin


neoplasm of immature B and T cells

description: A neoplasm arising from immature B and T cells


miliaria pustulosa

description: A miliaria that is characterized by pustules resulting from inflammation and bacterial infection.


grade II lymphomatoid granulomatosis

description: A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen.


childhood kidney neoplasm

description: A kidney neoplasm that occurs during childhood.


posterior foramen magnum meningioma

description: A meningioma that affects the posterior foramen magnum.


cerebral hemisphere lipoma

description: A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum.


name: encephalitis, acute, infection-induced, susceptibility to, 12


vascular disorder of penis

description: A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma.


name: myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders


name: congenital heart defects, multiple types, 7


name: ventriculomegaly with defects of the radius and kidney


schizotypal personality disorder

description: A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance.


name: RNASEH2B-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2B gene. Individuals with variants in RNASEH2B can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


hyperparathyroidism 4

description: Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene.


glossopharyngeal nerve paralysis

description: Paralysis of the glossopharyngeal nerve.


fetal carbamazepine syndrome

description: A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies.


hip dysplasia, canine

description: A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age.


propylthiouracil embryofetopathy

description: Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects).


urinary system neoplasm

description: A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003


cono-spondylar dysplasia

description: Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.


vesiculitis

description: An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle.


name: combined oxidative phosphorylation deficiency 39


louse-borne relapsing fever

description: An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated.


name: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum


name: mitochondrial complex 1 deficiency, nuclear type 32


name: mitochondrial oxidative phosphorylation disorder


name: brachydactyly, type A2, with microcephaly


name: acute posterior multifocal placoid pigment epitheliopathy

description: Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications.


schizophrenia 2

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21.


name: leukodystrophy, hypomyelinating, 26, with chondrodysplasia


eyelid hypopigmentation

description: Under-production of pigment in the eyelid.


name: persistent hyperplastic primary vitreous, autosomal dominant


autosomal recessive titinopathy

description: Autosomal recessive form of TTN-related myopathy.


cerebral folate deficiency

description: Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.


laryngeal cartilage cancer

description: A malignant neoplasm involving the laryngeal cartilage.


pediatric intraocular retinoblastoma

description: Retinoblastoma during childhood that has not spread beyond the eye.


name: pheochromocytoma-islet cell tumor syndrome


HHV-7 infectious disease

description: A disease caused by infection with herpesvirus-7.


mixed cell type kidney Wilms' tumor

description: Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern).


name: idiopathic disseminated cytomegalovirus infection


20q13.33 microdeletion syndrome

description: 20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.


orbital myositis

description: A rare form of myositis that affects only the orbital muscles.


name: syndromic X-linked intellectual disability Abidi type

description: X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.


Bartholin gland benign neoplasm

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


Bartholin duct cyst

description: Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice.


miliaria rubra

description: Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps).


atrophy of thyroid

description: Tissue degeneration and diminished size of the thyroid gland.


name: cystic partially differentiated nephroblastoma

description: A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative.


Pelizaeus-Merzbacher-like disease

description: Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).


Gerstmann syndrome

description: Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.


name: autosomal dominant nocturnal frontal lobe epilepsy 2

description: An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.


name: neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities


familial meningioma

description: A meningioma that is transmitted from the parents to an offspring.


name: cardiomyopathy, fatal fetal, due to myocardial calcification


phalanx chondroma

description: A chondroma that involves the phalanx.


Alzheimer disease 6

description: An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.


AIDS related complex

description: A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids.


name: mucopolysaccharidosis type 2, attenuated form

description: Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.


bone benign neoplasm

description: A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites.


ITPKB deficiency

description: Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene.


blue toe syndrome

description: A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation.


name: Niemann-Pick disease type C, adult neurologic onset


primary systemic mycosis

description: A systemic mycosis that arises from infection in an immunologically normal host.


gnathomiasis

description: An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia).


polyp of vagina

description: A polyp that involves the vagina.


atrial septal defect 1

description: An atrial heart septal defect type 1 associated with variation in the region 5p.


name: intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies


name: subacute inflammatory demyelinating polyneuropathy

description: A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP).


cartilage development disorder

description: Any dysfunction in the growth of cartilage.


name: autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect


dehydration polycythemia

description: Polycythemia resulting from dehydration.


conventional angiosarcoma

description: An angiosarcoma characterized by the presence of malignant spindle endothelial cells.


retrocochlear disease

description: Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss.


muscular dystrophy, domestic cat

description: Muscular dystrophy that occurs in domestic cat.


cowpox

description: A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal.


qualitative platelet defect

description: A group of conditions characterized by impaired platelet function, which may be suggested by clinical evidence of bleeding in the setting of a normal platelet count.


rheumatoid nodulosis

description: A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules.


malignant Sertoli cell tumor

description: A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site.


name: combined oxidative phosphorylation deficiency 38


description: X-linked form of epidermodysplasia verruciformis.


local anesthetic poisoning

description: A poisoning that is caused by exposure to a local anesthetic.


medulloblastoma SHH activated

description: A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent.


name: neurodevelopmental, jaw, eye, and digital syndrome


vertebral disorder

description: A disease or disorder that involves the vertebra.


orofaciodigital syndrome IX

description: Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment).


name: pulmonary atresia-intact ventricular septum syndrome

description: Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.


name: intellectual disability and myopathy syndrome


name: genetic central precocious puberty in female


name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome


name: hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

description: This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.


name: growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant


tetragametic chimerism

description: Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.


name: basal ganglia calcification, idiopathic, 9, autosomal recessive


name: factor 5 excess with spontaneous thrombosis


name: recombinase activating gene 2 deficiency

description: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.


childhood testicular neoplasm

description: A neoplasm that arises from the testis during childhood.


name: cloverleaf skull-asphyxiating thoracic dysplasia syndrome


name: isolated optic neuritis without anti-MOG antibodies


lymphoid neoplasm

description: A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms.


15q overgrowth syndrome

description: 15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.


A53 diffuse large B-cell lymphoma

description: A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation.


name: B acute lymphoblastic leukemia with PAX5 P80R mutation

description: A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.


name: severe lateral tibial bowing with short stature

description: Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.


heart-hand syndrome type 2

description: Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).


adult xanthogranuloma

description: A xanthogranuloma that occurs in an adult.


name: lattice degeneration of retina leading to retinal detachment


mandibulofacial dysostosis

description: A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)


name: endometriosis of rectovaginal septum and vagina

description: Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina.


glossopalatine ankylosis

description: Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.


granulomatous amebic encephalitis

description: Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised people and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.


disorder of glycosylation

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


name: spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome


name: developmental and epileptic encephalopathy, 76

description: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B.


name: localized lichen myxedematosus with mixed features of different subtypes

description: Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM.


commissural lip fistula

description: A cysts and fistulae of the face and oral cavity that involves the labial commissure.


patellar tendinitis

description: A tendinitis that involves the patella.


name: combined oxidative phosphorylation deficiency 37


childhood epithelioid sarcoma

description: An epithelioid sarcoma occurring in childhood.


oligoasthenoteratozoospermia

description: A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility.


name: epidermolytic hyperkeratosis 2A, autosomal dominant


bone sarcoma

description: A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.


human herpesvirus 8 infection

description: An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma.


name: partial monosomy of the long arm of chromosome 10


name: Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin


name: congenital absence of both forearm and hand

description: Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end.


name: congenital autosomal recessive small-platelet thrombocytopenia

description: A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.


name: FOXC1-related anterior segment dysgenesis

description: Any anterior segment dysgenesis in which the cause of the disease is a mutation in the FOXC1 gene.


EDICT syndrome

description: EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.


name: Tay-Sachs disease, b variant, infantile form


name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature


name: melanoma, malignant familial intraocular


time agnosia

description: An agnosia that is a loss of the ability to comprehend the succession and duration of events.


familial osteosclerosis

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


name: postsynaptic congenital myasthenic syndrome


uterine adnexa cancer

description: Evidence of a malignant neoplasm of the uterine adnexa.


name: deficiency in anterior pituitary function - variable immunodeficiency syndrome


chromosome 15q11.2 deletion syndrome

description: 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).


alternariosis

description: Opportunistic fungal infection by a member of Alternaria genus.


name: lip herpes simplex type 1 infectious disorder

description: Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis).


name: demyelinating disease of central nervous system

description: Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system.


skeletal tuberculosis

description: Tuberculosis of the bones or joints.


tarsal kink syndrome

description: Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery.


vulvar leiomyoma

description: A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


myopathy caused by variation in POMGNT2

description: Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene.


valine metabolism disease

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


notochordal tumor

description: A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor.


therapy-related myeloid neoplasm

description: Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.


Braddock syndrome

description: Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.


ocular onchocerciasis

description: Onchocerciasis affecting the eye.


ciliary body disorder

description: A disease involving the ciliary body.


name: Amobarbital, deficient N-hydroxylation of


name: diaphragmatic hernia 4, with cardiovascular defects


bone chondrosarcoma

description: A chondrosarcoma (disease) that involves the bone tissue.


familial developmental dysphasia

description: Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.


rifampicin-resistant tuberculosis

description: A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications.


lymph node neoplasm

description: A neoplasm involving a lymph node.


follicular dendritic cell sarcoma

description: A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases.


name: secondary central precocious puberty in female


common peroneal nerve lesion

description: A peripheral nerve lesion that involves the common fibular nerve.


name: X-linked neurodegenerative syndrome, Hamel type

description: An X-linked neurodegenerative disorder characterized by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.


name: autosomal dominant nonsyndromic hearing loss 52

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.


name: B-lymphoblastic leukemia/lymphoma MLL rearranged

description: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein.


germ cell benign neoplasm

description: A benign neoplasm that derives from germ cells.


bladder leiomyoma

description: A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


name: syndromic X-linked intellectual disability Shrimpton type

description: X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.


name: choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome


name: autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome

description: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.


name: growth hormone insensitivity syndrome with immune dysregulation


burkholderia infectious disease

description: Infections with bacteria of the genus Burkholderia.


central nervous system neoplasm

description: A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia.


A20 haploinsufficiency

description: Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene.


name: proteasome-associated autoinflammatory syndrome 6


nasal encephalocele

description: Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.


description: Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.


name: congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization

description: A glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life.


name: qualitative or quantitative defects of TRIM32


hereditary angioedema with normal C1Inh

description: A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.


partial segmental duplication

description: A chromosomal disorder consisting of the partial duplication of chromosome 21.


name: peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain


name: acetazolamide-responsive hereditary episodic ataxia

description: Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide.


name: central sleep apnea due to periodic breathing


trisomy 22

description: Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).


name: prenatal-onset spinal muscular atrophy with congenital bone fractures


Rhabditida infectious disease

description: Infections with nematodes of the order rhabditida.


Fox-Fordyce disease

description: A chronic skin disease most common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown, but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants.


angiostrongyliasis

description: A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.


name: muscular dystrophy, pseudohypertrophic, with Internalized capillaries


name: neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures


name: medial condensing osteitis of the clavicle


malignant mixed neoplasm

description: A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung.


contagious pustular dermatitis

description: An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans.


name: pyruvate carboxylase deficiency, benign type

description: Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.


description: Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).


name: neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies


mild heart failure

description: Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity.


benign neoplasm of epididymis

description: A benign neoplasm that involves the epididymis.


childhood infratentorial neoplasm

description: A neoplasm that affects the infratentorial region of the brain and occurs during childhood.


aortopulmonary coronary arterial course

description: Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise.


name: distal 22q11.2 microduplication syndrome

description: Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.


name: DDX41-related hematologic malignancy predisposition syndrome

description: Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.


description: KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.


exanthema subitum

description: An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk.


name: microcephaly 26, primary, autosomal dominant


3q26 microduplication syndrome

description: 3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.


name: acute transverse myelitis with anti-MOG antibodies


immune-mediated necrotizing myopathy

description: Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation.


benign neoplasm of cauda equina

description: A benign neoplasm that involves the cauda equina.


name: autosomal recessive nonsyndromic hearing loss 33

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1.


name: early repolarization associated with ventricular fibrillation


toxic amblyopia

description: A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.


name: neuronopathy, distal hereditary motor, autosomal dominant 11


phlebotomus fever

description: Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii.


name: SYNGAP1-related developmental and epileptic encephalopathy

description: A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).


subacute sclerosing panencephalitis

description: A chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex.


name: lymphoadenopathic mastocytosis with eosinophilia


name: familial idiopathic steroid-resistant nephrotic syndrome

description: Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset.


glass-chapman-hockley syndrome

description: The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder.


mosaic trisomy 5

description: Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.


non-functioning endocrine neoplasm

description: A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome.


cholesterol catabolic process disease

description: A disease that has its basis in the disruption of cholesterol catabolic process.


spondylocamptodactyly syndrome

description: Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis.


name: neurodevelopmental disorder with central and peripheral motor dysfunction


nuclear senile cataract

description: A senile cataract that involves the lens nucleus.


spondyloepiphyseal dysplasia

description: An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.


Alzheimer disease 7

description: An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.


metabolic myopathy

description: A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction.


name: acute myeloid leukemia, NRAS gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.)


name: humeroradial synostosis with craniofacial anomalies


name: goiter, multinodular 1, with or without Sertoli-Leydig cell tumors

description: Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene.


cerebral malaria

description: A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures.


name: developmental delay with or without epilepsy


social emotional agnosia

description: An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.


Watson syndrome

description: Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.


breath-holding Spells

description: Episodic apnea, which is more common in young children and usually resolves by age six.


lipomatous cancer

description: A malignant mesenchymal neoplasm arising from adipocytes.


neuralgic amyotrophy

description: Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.


chromosome 2 disorder

description: Chromosomal disorder in which chromosome 2 is affected.


name: spastic paraplegia-facial-cutaneous lesions syndrome

description: Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.


name: qualitative or quantitative defects of myofibrillar proteins


roseolovirus infectious disease

description: Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children.


name: syndromic X-linked intellectual disability Chudley-Schwartz type

description: A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.


hypotrichosis of eyelid

description: A hypotrichosis that involves the eyelid.


name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

description: A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.


familial pterygium of the conjunctiva

description: Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision.


streptococcal infection

description: Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G.


name: neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities


glioma susceptibility 3

description: Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene.


name: acinar dysplasia caused by mutation in TBX4

description: Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.


name: sex chromosome disorder of sex development

description: Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism.


name: partial deletion of the short arm of chromosome 2


name: deafness, congenital, and adult-onset progressive leukoencephalopathy


name: neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive


autoimmune disorder of exocrine system

description: A hypersensitivity reaction type II disease that involves the exocrine system.


name: indolent primary cutaneous T-cell lymphoma


clonal hematopoiesis

description: A precancerous condition characterized by cellular proliferation of hematopoietic cells where a substantial proportion of the cells are derived from a single hematopoietic stem cell lineage.


cornea neoplasm

description: A neoplasm (disease) that involves the cornea.


peroneal neuropathy

description: Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)


name: abdominal obesity-metabolic syndrome quantitative trait locus 2


X-linked ichthyosis syndrome

description: X-linked form of inherited ichthyosis syndromic form.


chromosome 10 disorder

description: Chromosomal disorder in which chromosome 10 is affected.


IFIH1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome.


arachnoiditis

description: Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems.


name: emphysema, congenital, with deafness, penoscrotal web, and intellectual disability


choline deficiency disease

description: A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)


name: developmental delay with short stature, dysmorphic facial features, and sparse hair 2

description: Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH2 gene.


MYH-6 related congenital heart defects

description: A heart disease that is present at birth that is caused by a variation in MYH-6. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot and hypoplastic left heart syndrome.


name: methicillin-resistant staphylococcus aureus infectious disease

description: Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins.


name: tuberculin skin test reactivity, absence of


name: inborn disorder of lysine and hydroxylysine metabolism


chondroid chordoma

description: A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage.


herpes simplex dermatitis

description: Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection.


name: intellectual disability, short stature, facial anomalies, and joint dislocations


chronic hiccup

description: Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.


name: acute myeloid leukemia, t(9;11)(p21.3;q23.3)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.)


rigid spine syndrome

description: Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.


Brucella suis brucellosis

description: An disease or disorder caused by infection with Brucella suis.


name: isolated optic neuritis with anti-MOG antibodies


name: symptomatic form of X-linked centronuclear myopathy in female carriers


physiological polycythemia

description: Polycythemia that is not pathologic.


name: oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies


hereditary spastic paraplegia 34

description: X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.


tuberculous encephalopathy

description: A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state.


paralytic poliomyelitis

description: A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.


childhood carcinoid tumor

description: A rare carcinoid tumor that occurs during childhood.


name: intellectual developmental disorder with seizures and language delay


name: intellectual developmental disorder, autosomal recessive 69


tularemia

description: Tularemia is an infection caused by the bacterium Francisella tularensis. It is more common in rodents and rabbits but has been found in other animals including domestic cats, sheep, birds, and hamsters. Humans can become infected in several different ways: by handling infected animals, through tick or deer fly bites, by drinking contaminated water, or by inhaling contaminated dust or aerosols. Person-to-person transmission has not been reported. The type of tularemia and the particular signs and symptoms vary depending on how the bacteria enter the body. However, fever is seen in most cases. Though tularemia can be life-threatening, most infections can be treated with antibiotics.


CDKL5 disorder

description: A monogenic disease that has material basis in mutation in the CDKL5 gene.


pseudomembranous conjunctivitis

description: Conjunctivitis that is characterized by formation of a pseudomembrane.


name: attenuated familial adenomatous polyposis

description: Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features.


name: B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)

description: A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.


name: atrial septal defect, ostium secundum type


pulmonary valve disorder

description: A disease involving the pulmonary valve.


acute myeloid leukemia, del(13q14-q21)

description: Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.)


suppression amblyopia

description: A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications.


description: A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis.


orofaciodigital syndrome X

description: Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.


name: X-linked intellectual disability, Stevenson type

description: An X-linked syndromic intellectual disability characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.


name: mitochondrial complex 1 deficiency, nuclear type 34


name: congenitally uncorrected transposition of the great arteries with coarctation


name: qualitative or quantitative defects of alpha-actin


mixed testicular germ cell cancer

description: A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma.


congenital muscular dystrophy 1B

description: Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.


CNGA1-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the CNGA1 gene.


nonanaplastic kidney Wilms tumor

description: Wilms tumor of the kidney characterized by the absence of nuclear anaplasia.


Gardner syndrome

description: Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.


lymphomatoid granulomatosis

description: Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever.


BEST1-related dominant retinopathy

description: Any retinopathy caused by a heterozygous variant in the BEST1 gene.


Kunjin virus infectous disease

description: A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.


description: Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.


name: streptococcus pneumoniae-associated hemolytic uremic syndrome


ectasia of the left appendage

description: Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure.


acquired aplastic anemia

description: An instance of aplastic anemia that is acquired during the lifetime of the individual.


name: HTRA1-related autosomal dominant cerebral small vessel disease


ELOVL4-related maculopathy

description: Any maculopathy caused by a variant in the ELOVL4 gene.


autoimmune disorder of blood

description: A hypersensitivity reaction type II disease that involves the blood.


inherited pseudoxanthoma elasticum

description: An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician.


name: partial deletion of the long arm of chromosome 12


plantar fasciitis

description: Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related.


mechanical ectropion

description: An ectropion with a mechanical etiology.


name: undifferentiated high grade pleomorphic sarcoma of bone

description: A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs.


name: hennekam lymphangiectasia-lymphedema syndrome 3


name: brachydactyly, type E, with atrial septal defect, type 2


name: seizures, benign familial neonatal, autosomal recessive


name: arthrogryposis multiplex congenita 3, myogenic type


name: inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of sulfur-containing amino acids and/or hydrogen sulfide.


name: peroxisome biogenesis disorder due to PEX6 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.


name: diffuse palmoplantar keratoderma with painful fissures


dendritic cell deficiency

description: A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells.


foveal hypoplasia

description: Underdevelopment of the fovea centralis.


name: progressive dementia with neuroserpin inclusion bodies


description: Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.


name: autosomal recessive spastic paraplegia type 67

description: Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.


name: atypical progressive supranuclear palsy syndrome

description: Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA).


kidney osteogenic sarcoma

description: An osteosarcoma arising from the kidney.


name: breast cancer, familial, susceptibility to, 3


leptospirosis

description: A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure.


visual pathway disorder

description: A disorder of the neural pathway from the optic nerve to the visual cortex.


BEST1-related recessive retinopathy

description: Any retinopathy caused by bi-allelic variants in the BEST1 gene.


name: anatomical narrow angle borderline glaucoma


name: glycosylphosphatidylinositol biosynthesis defect 21


Coffin-Siris syndrome 8

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.


diastolic heart failure

description: Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling.


name: metabolic disease involving other neurotransmitter deficiency


name: combined oxidative phosphorylation deficiency 40


congenital pulmonary valve stenosis

description: Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS).