urinary system neoplasm

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


cono-spondylar dysplasia

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

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


Marden-Walker syndrome

description: Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.


name: brachydactyly, type A2, with microcephaly


name: juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome


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.


name: hyperphosphatasia with intellectual disability syndrome 5

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.


schizophrenia 2

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


name: microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

description: Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.


myofibrillar myopathy 6

description: Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.


name: leukodystrophy, hypomyelinating, 26, with chondrodysplasia


neuronal ceroid lipofuscinosis 5

description: Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: autosomal dominant nonsyndromic hearing loss 15

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.


Wolfram syndrome 1

description: Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.


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.


juvenile primary lateral sclerosis

description: Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.


congenital myasthenic syndrome 13

description: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.


acheiropody

description: Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.


laryngeal cartilage cancer

description: A malignant neoplasm involving the laryngeal cartilage.


abdominal obesity-metabolic syndrome 3

description: Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.


congenital myasthenic syndrome 19

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.


spinocerebellar ataxia type 31

description: Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.


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.


craniofrontonasal syndrome

description: An X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.


name: hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

description: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported.


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).


vesicular exanthema of swine

description: A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia.


name: idiopathic disseminated cytomegalovirus infection


atrial fibrillation, familial, 18

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene.


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.


Richieri Costa-Pereira syndrome

description: Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.


Bartholin gland benign neoplasm

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


ataxia-telangiectasia-like disorder 1

description: Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.


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.


tarsal-carpal coalition syndrome

description: Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges.


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).


hereditary angioedema type 1

description: Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


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.


porencephaly 2

description: Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.


name: progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome


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


diabetes insipidus, Japanese quail

description: Diabetes insipidus that occurs in Japanese quail.


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.


spinocerebellar ataxia type 19/22

description: Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.


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.


name: facial palsy, congenital, with ptosis and velopharyngeal dysfunction


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.


cataract 43

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.


ITPKB deficiency

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


name: polycystic kidney disease 3 with or without polycystic liver disease

description: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.


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.


name: free sialic acid storage disease, infantile form


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).


nephronophthisis 11

description: A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.


hereditary spastic paraplegia 23

description: Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.


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).


spinal muscular atrophy, type 1

description: A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


cartilage development disorder

description: Any dysfunction in the growth of cartilage.


name: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset


Brody myopathy

description: Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.


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


dehydration polycythemia

description: Polycythemia resulting from dehydration.


name: congenital brain dysgenesis due to glutamine synthetase deficiency


limb-mammary syndrome

description: Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.


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.


pontocerebellar hypoplasia type 2D

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


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.


name: autosomal recessive limb-girdle muscular dystrophy type 2X

description: Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.


Danon disease

description: A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.


local anesthetic poisoning

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


Thiel-Behnke corneal dystrophy

description: Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.


Wolman disease

description: Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues.


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.


autosomal recessive osteopetrosis 6

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.


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).


Pitt-Hopkins-like syndrome 2

description: Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.


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.


nemaline myopathy 2

description: An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.


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: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene.


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: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.


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: developmental and epileptic encephalopathy, 41

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.


bone marrow failure syndrome 3

description: Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.


isolated microphthalmia 3

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.


semicircular canal dehiscence syndrome

description: Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.


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.


erythrokeratoderma

description: An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time.


name: congenital reticular ichthyosiform erythroderma


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.


intellectual disability, X-linked 104

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.


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.


retinitis pigmentosa 58

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.


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.


name: microcephaly, epilepsy, and diabetes syndrome


commissural lip fistula

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


name: inherited bleeding disorder, platelet-type


acrofacial dysostosis, Weyers type

description: Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.


hereditary spastic paraplegia 63

description: An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.


hereditary night blindness

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


patellar tendinitis

description: A tendinitis that involves the patella.


name: autosomal recessive nonsyndromic hearing loss 59

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


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.


Sandhoff disease

description: Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterized by central nervous system degeneration.


infantile bilateral striatal necrosis

description: Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.


name: epidermolytic hyperkeratosis 2A, autosomal dominant


name: scapuloperoneal spinal muscular atrophy, autosomal dominant


pelviscapular dysplasia

description: Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.


bone sarcoma

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


name: centripetalis recessive dystrophic epidermolysis bullosa

description: Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk.


name: skin creases, congenital symmetric circumferential, 2


branchiootic syndrome

description: Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (including cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).


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: epidermolysis bullosa simplex with nail dystrophy


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.


name: autosomal recessive congenital ichthyosis 9

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.


name: hereditary angioedema with C1Inh deficiency

description: Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.


ventricular septal defect, chicken

description: Ventricular septal defect that occurs in chicken.


wooly hair nevus

description: Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occasionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.


name: encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1


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


Charcot-Marie-Tooth disease type 1B

description: A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.


name: intellectual disability, autosomal dominant 54


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.


name: renal tubular dysgenesis of genetic origin

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


congenital factor XIII deficiency

description: Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.


semantic dementia

description: Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.


familial osteosclerosis

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


cranioectodermal dysplasia 2

description: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.


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).


name: non-spherocytic hemolytic anemia due to hexokinase deficiency

description: Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia.


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

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


alternariosis

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


horse sarcoid

description: A fibroblastic tumor that occurs in the skin of a horse.


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.


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.


adult polyglucosan body disease

description: Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.


name: childhood encephalopathy due to thiamine pyrophosphokinase deficiency


Charcot-Marie-Tooth disease type 1

description: Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.


edema disease of swine

description: An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema.


hypotrichosis 6

description: Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.


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.


orofaciodigital syndrome type 14

description: Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.


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.


Aicardi-Goutieres syndrome 6

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.


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.


Aksu von Stockhausen syndrome

description: A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: autosomal recessive optic atrophy, OPA7 type


ocular onchocerciasis

description: Onchocerciasis affecting the eye.


myopathy, tubular aggregate, 2

description: Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.


hereditary spastic paraplegia 33

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.


ciliary body disorder

description: A disease involving the ciliary body.


name: transgrediens et progrediens palmoplantar keratoderma


name: Amobarbital, deficient N-hydroxylation of


name: diaphragmatic hernia 4, with cardiovascular defects


name: ALG8-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.


bone chondrosarcoma

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


southeast Asian ovalocytosis

description: Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.


name: Charcot-Marie-Tooth disease recessive intermediate A

description: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.


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.


retinitis pigmentosa 73

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


multiple synostoses syndrome 3

description: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.


Acromicric dysplasia

description: A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.


rifampicin-resistant tuberculosis

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


name: epilepsy, familial focal, with variable foci 2

description: Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.


name: colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

description: A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity.


lymph node neoplasm

description: A neoplasm involving a lymph node.


PSPH deficiency

description: 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.


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: developmental delay, hypotrophy, and dysmorphic features without moebius syndrome

description: A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has material basis in homozygous ultra-rare REV3L variant (T2753R).


name: cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome


cycloplegia

description: Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation.


tenosynovial giant cell tumor

description: A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse.


name: secondary central precocious puberty in female


common peroneal nerve lesion

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


ciliopathy

description: A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.


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.


internal carotid artery stenosis

description: Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta.


Marshall-Smith syndrome

description: Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.


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: neurodegeneration with brain iron accumulation 4

description: Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.


proliferative diabetic retinopathy

description: Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness.


name: combined oxidative phosphorylation defect type 14

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.


name: growth hormone insensitivity syndrome with immune dysregulation


name: diabetes insipidus, nephrogenic, autosomal


name: epidermal nevus vitamin D resistant rickets


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.


name: congenital stationary night blindness 1G

description: A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.


primary ciliary dyskinesia 10

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.


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.


platelet-type bleeding disorder 14

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.


amyotrophic lateral sclerosis type 22

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene.


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


name: PMP22-RAI1 contiguous gene duplication syndrome


agyria-pachygyria type 1

description: A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei.


retinitis pigmentosa 71

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene.


description: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterized by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.


polyglucosan body myopathy type 2

description: Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.


idiopathic scoliosis

description: A scoliosis with no known cause.


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


retinitis pigmentosa 68

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene.


name: myopathy, lactic acidosis, and sideroblastic anemia 2

description: Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene.


name: hypogonadotropic hypogonadism 2 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene.


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.


hereditary spastic paraplegia 45

description: Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.


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: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.


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


myoclonus, familial, 1

description: Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.


description: Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.


mild heart failure

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


benign familial infantile epilepsy

description: A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.


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.


name: severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.


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: Ehlers-Danlos syndrome, spondylodysplastic type, 2

description: Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.


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.


scoliosis, chicken

description: Scoliosis that occurs in chicken.


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


name: microcephaly 11, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.


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


name: skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome


chromosome 3q29 microdeletion syndrome

description: 3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.


name: cerebral calcifications opalescent teeth phosphaturia


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


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).


name: glycogen storage disease due to muscle beta-enolase deficiency

description: Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.


facioscapulohumeral muscular dystrophy

description: An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.


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.


EAST syndrome

description: SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia).


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.


name: diaphragmatic defect-limb deficiency-skull defect syndrome

description: This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four fetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies.


cataract 38

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


Alzheimer disease 7

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


name: ALG11-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).


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.)


congenital bile acid synthesis defect 4

description: An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.


metachondromatosis

description: Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.


name: moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

description: Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.


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.


name: developmental delay with or without epilepsy


hereditary spastic paraplegia 72

description: Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene.


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.


name: intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

description: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.


inosine triphosphatase deficiency

description: An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.


Sertoli-Leydig cell tumor

description: A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens.


lipomatous cancer

description: A malignant mesenchymal neoplasm arising from adipocytes.


name: generalized epilepsy with febrile seizures plus, type 6


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.


juvenile Paget disease

description: Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.


name: lethal acantholytic epidermolysis bullosa

description: Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.


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.


fleck corneal dystrophy

description: Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.


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.


hand-foot-genital syndrome

description: Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.


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.


cardiomyopathy, chicken

description: Cardiomyopathy that occurs in chicken.


name: partial deletion of the short arm of chromosome 2


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


intellectual disability, X-linked 93

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.


Ahumada Del Castillo syndrome

description: A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins.


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.


d-bifunctional protein deficiency

description: A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.


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.


porcine lymphoma

description: Lymphoma that occurs in a pig.


cornea neoplasm

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


Sillence syndrome

description: Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.


geotrichosis

description: Infection due to the fungus Geotrichum.


name: short-rib thoracic dysplasia 13 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.


van den Bosch syndrome

description: A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.


name: abdominal obesity-metabolic syndrome quantitative trait locus 2


pemphigus foliaceus

description: Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.


name: hypertrichotic osteochondrodysplasia Cantu type

description: Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.


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.


narcolepsy without cataplexy

description: A type of narcolepsy characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.


odontoleukodystrophy

description: Leukodystrophy with oligodontia is characterized by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.


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: Klippel-Feil syndrome 1, autosomal dominant

description: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene.


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


name: cardiomyopathy-cataract-hip spine disease syndrome

description: Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.


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: cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis


restrictive dermopathy

description: A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.


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.)


name: pyogenic bacterial infections due to MyD88 deficiency

description: Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.


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.


name: cardiomyopathy hypogonadism collagenoma syndrome


Brucella suis brucellosis

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


pseudohypoparathyroidism type 1B

description: Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.


name: isolated optic neuritis with anti-MOG antibodies


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


name: retinal dystrophy with or without macular staphyloma