osteogenesis imperfecta type 2

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.


Hendra virus infection

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Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported.


microcephaly, growth restriction and increased sister chromatid exchange


neutrophil immunodeficiency syndrome

A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.


genitopatellar syndrome

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.


X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterized by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.


immunodeficiency 65, susceptibility to viral infections


acetazolamide-responsive myotonia

Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).


primary ciliary dyskinesia 7

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.


hereditary otorhinolaryngologic disease

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


papular xanthoma

Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease.


dysostosis with predominant vertebral with and without costal involvement

Any dysostosis that involves the vertebrae, with or without involvement of the the ribs or the upper sides of the body.


metachromatic leukodystrophy due to saposin B deficiency


otospondylomegaepiphyseal dysplasia

An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.


Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).


disorder of lectin complement activation pathway

A disease that has its basis in the disruption of complement activation, lectin pathway.


acute myeloid leukemia, t(4;11)(q21;q23)

Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.)


malignant peritoneal mesothelioma

An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.


leukonychia totalis

Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.


malignant adenoma

A cell type cancer that is composed of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer.


isolated microphthalmia 5

Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.


atrial fibrillation, familial, 6

Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene.


acquired carbohydrate metabolism disease

An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism.


Enterococcus faecalis infection

A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens.


elliptocytosis 2

Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.


intellectual disability, autosomal recessive 12


sclerosteosis 2

Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.


Steel syndrome

A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.


spastic paraplegia 90B, autosomal recessive


malignant cranial nerve neoplasm

Abnormal malignant growth of the cells that comprise the cranial nerve.


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome


acquired neutropenia

An instance of neutropenia that is acquired during the lifetime of the individual.


combined oxidative phosphorylation deficiency 33

An autosomal recessive condition caused by mutation(s) in the C1QBP gene, encoding complement component 1 Q subcomponent-binding protein, mitochondrial. The phenotype is highly variable.


atrial septal defect 5

Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.


pemphigoid

An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.


adenosine monophosphate deaminase deficiency

Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue.


cortical deafness

An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.


Stormorken syndrome

Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.


spondyloepiphyseal dysplasia tarda, Kohn type

Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.


choroideremia hypopituitarism

This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.


osteogenesis imperfecta type 15

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.


neurogenic scapuloperoneal syndrome, Kaeser type


mitochondrial complex 4 deficiency, nuclear type 19


hemochromatosis type 3

Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.


autosomal recessive nonsyndromic hearing loss 96

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.


encephalitozoonosis

Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium.


syphilitic encephalitis

An encephalitis caused by infection with Treponema.


stromal predominant kidney Wilms tumor

Wilms tumor of the kidney characterized by the predominance of the mesenchymal component.


non-syndromic developmental defect of the eye

A developmental defect of the eye that is not part of a larger syndrome.


muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus.


ureteral lymphoma

A lymphoma that involves the ureter.


pilodental dysplasia-refractive errors syndrome

Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.


myopathy, lactic acidosis, and sideroblastic anemia

Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy.


reticular dystrophy of the retinal pigment epithelium

Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.


benign childhood occipital epilepsy, Panayiotopoulos type

Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases.


spastic paraplegia 90A, autosomal dominant


congenital bile acid synthesis defect 2

Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.


Singleton-Merten syndrome 1

Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.


Grayson-Wilbrandt corneal dystrophy

Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity.


CHIME syndrome

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.


adult neuronal ceroid lipofuscinosis

A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.


lysosomal storage disease

A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.


F12-associated cold autoinflammatory syndrome


cyclic vomiting syndrome

A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting.


hereditary spastic paraplegia 31

A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.


strictly posterior acute myocardial infarction


AIPL1-related retinopathy

A retinopathy caused by biallelic variants in the AIPL1 gene.


A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.


postinfectious vasculitis

Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses.


spastic ataxia 7

Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.


kidney lipoma

A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain.


neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.


acute hemorrhagic leukoencephalitis

Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL.


allesthesia

A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.


neurodevelopmental disorder with hypotonia and brain abnormalities


mosaic trisomy 7

Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.


familial primary hypomagnesemia

A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.


proliferating trichilemmal cyst

Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues.


gonadal tissue neoplasm

Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells.


disorder of O-N-acetylgalactosaminylglycan synthesis


Aloi Tomasini Isaia syndrome

A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder.


degeneration of macula and posterior pole


skin disease caused by bacterial infection

Skin diseases caused by bacteria.


A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity.


amelogenesis imperfecta hypomaturation type 2A5

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.


microcephaly 4, primary, autosomal recessive


complex sleep apnea

A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device.


seborrhea-like dermatitis with psoriasiform elements


pulmonary hypertension, neonatal

Abnormally high blood pressure in a newborn child.


X-linked recessive mitochondrial myopathy

A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features.


Lyell syndrome

Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area.


cleft palate with or without ankyloglossia, X-linked

X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.


intellectual disability, autosomal recessive 59

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.


Darier disease

Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.


neurodevelopmental disorder with or without variable movement or behavioral abnormalities


Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.


self-healing collodion baby

Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.


benign vaginal mixed tumor

A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells.


isolated growth hormone deficiency, type 4


peripheral motor neuropathy-dysautonomia syndrome

Peripheral motor neuropathy-dysautonomia syndrome is characterized by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive.


Catel-Manzke syndrome

Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.


linear skin defects with multiple congenital anomalies 3

Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.


metaphyseal anadysplasia 2

Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.


focal myositis

Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.


benign neoplasm of renal pelvis

A benign neoplasm that involves the renal pelvis.


classic pyoderma gangrenosum

A rare subtype of pyoderma gangrenosum disease characterized by rapidly progressive, single or multiple, painful, aseptic ulcers which present overhanging, violaceous and undermined borders, surrounding induration and erythema, and granulation tissue (occasionally necrotic tissue and/or a purulent exudate) at the base, mainly affecting the legs (but other body surfaces may also be involved), leading to chronic ulcerations and often regressing with cribriform mutilating scars. The disease presents a chronic relapsing course and systemic features (e.g. fever, malaise, arthralgia, myalgia) may be associated.


muscular dystrophy-dystroglycanopathy, type B


nephrogenic adenoma of the urethra

A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi.


non-syndromic bicoronal and sagittal craniosynostosis


human papilloma virus infection

An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.


acute myeloid leukemia, t(15;17)(q24;q21)

Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.)


partial deletion of the long arm of chromosome 7

Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


Wildervanck syndrome

Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.


neurodevelopmental disorder with speech delay and variable ocular anomalies


pseudoxanthoma elasticum-like papillary dermal elastolysis

Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement.


combined oxidative phosphorylation deficiency 22


hereditary spastic paraplegia 64

An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.


severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion


hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.


amyotrophic lateral sclerosis type 21

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene.


oral submucous fibrosis

Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.


toxin-mediated infectious botulism

Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism).


functional variant of Guillain-Barre syndrome


lethal arteriopathy syndrome due to fibulin-4 deficiency


isolated spina bifida

A spina bifida (disease) that is not part of a larger syndrome.


short stature, microcephaly, and endocrine dysfunction


autosomal dominant nonsyndromic hearing loss 64

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


proteasome-associated autoinflammatory syndrome 5


isolated congenital megalocornea

Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.


furuncular myiasis due to Cordylobia anthropophaga


COG7-congenital disorder of glycosylation

COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.


histiocytic sarcoma

An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.


primary motor cortex epilepsy

A epilepsy that involves the primary motor cortex.


cone-rod dystrophy 17

A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26.


hereditary inflammatory or rheumatoid-like osteoarthropathy


intellectual disability-brachydactyly-Pierre Robin syndrome

Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.


bone resorption disease

A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.


partial deletion of the long arm of chromosome 16


hereditary lipodystrophy

An instance of lipodystrophy that is caused by an inherited genomic modification in an individual.


mastocytoma

A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung.


intellectual disability, autosomal dominant 34

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.


16p13.11 microduplication syndrome

16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.


Chandler syndrome

Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.


apraxia

Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition.


venom allergy

An allergic disease involving venom.


primary tuberculosis of the digestive system


microcephaly 15, primary, autosomal recessive


malignant pleural solitary fibrous tumor

A malignant form of pleural solitary fibrous tumor.


refeeding syndrome

Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally).


neoplasm of neck

A neoplasm (disease) that involves the neck.


absence deformity of leg-cataract syndrome

Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.


arenavirus hemorrhagic fever

A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus.


disorder of protein O-glycosylation

A disease that has its basis in the disruption of protein O-linked glycosylation.


autosomal dominant centronuclear myopathy

An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.


spastic paraplegia 83, autosomal recessive


benign neoplasm of sublingual gland

A benign neoplasm that involves the sublingual gland.


autosomal recessive humeroradial synostosis

Autosomal recessive form of humeroradial synostosis (disease).


primary ciliary dyskinesia 17

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.


neuropathy, hereditary sensory and autonomic, type 1A

An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.


Leber congenital amaurosis 14

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


progressive encephalopathy with leukodystrophy due to DECR deficiency

Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.


PrP systemic amyloidosis

Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.


persistent placoid maculopathy

Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision.


atrial fibrillation, familial, 14

Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene.


ring chromosome 3

Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias.


renal pelvis neoplasm

A neoplasm (disease) that involves the renal pelvis.


lymphoma

A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.


congenital heart defects, multiple types, 4

Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.


chondroid hamartoma

A hamartoma that is characterized by the presence of chondroid elements.


LCA5-related retinopathy

A retinopathy caused by biallelic variants in the LCA5 gene.


mitochondrial DNA depletion syndrome 9

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3


Charcot-Marie-Tooth disease axonal type 2Q

Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.


acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor

Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.


intrinsic factor and r binder, combined congenital deficiency of


nephropathic infantile cystinosis

Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.


focal segmental glomerulosclerosis 5

Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene.


Brucella melitensis brucellosis

A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain.


tooth agenesis, selective, 1

Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene.


benign uterine ligament neoplasm

A non-metastasizing neoplasm that arises from the uterine ligament.


idiopathic steroid-sensitive nephrotic syndrome with minimal change


immune reconstitution inflammatory syndrome

An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens.


periventricular heterotopia with microcephaly, autosomal recessive


chromosome 5q12 deletion syndrome

PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.


connective tissue neoplasm

Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.


central nervous system mesenchymal non-meningothelial tumor

A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO)


hereditary spherocytosis type 1

Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene.


achromatopsia 4

Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.


inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation


osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents.


partial duplication of the short arm of chromosome 2

Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.


leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.


familial cold autoinflammatory syndrome 3

A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.


Bazex-Dupre-Christol syndrome

Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas.


ankyloblepharon filiforme-imperforate anus syndrome

An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.


mesenteric varices

A varicose disease that involves the mesentery.


acute asthma

An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment.


hemorrhagic fever-renal syndrome

Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations.


childhood extraosseous osteosarcoma

An osteosarcoma arising from the soft tissue, and occurring during childhood.


syndromic recessive X-linked ichthyosis

Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.


epithelioid leiomyosarcoma

A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm.


oocyte/zygote/embryo maturation arrest 18


myotonia permanens

Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).


thyroid lymphoma

A lymphoma primarily involving the thyroid gland.


cerebrooculofacioskeletal syndrome 2

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.


neuromuscular junction disease

Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.


lichen amyloidosis

Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.


neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures


complex cortical dysplasia with other brain malformations 6

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene.


alpha-thalassemia-related diseases

This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).*


mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.


intellectual developmental disorder, autosomal recessive 74

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene.


hyperinsulinemic hypoglycemia, familial, 1

Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene.


spondylometaphyseal dysplasia, Sedaghatian type

Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.


hyperinsulinemic hypoglycemia

An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.


mitochondrial complex III deficiency nuclear type 2

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.


metaphyseal dysplasia without hypotrichosis


viral hemorrhagic fever

A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging.


Cole-Carpenter syndrome 2

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.


B-lymphoblastic leukemia/lymphoma with IL3-IGH

A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3).


mitochondrial complex 4 deficiency, nuclear type 16


Usher syndrome type 1D

A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.


encephalopathy due to sulfite oxidase deficiency

Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.


dihydropteridine reductase deficiency

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.


non-severe combined immunodeficiency due to COPG1 deficiency

Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.


cone-rod dystrophy 7

Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene.


patterned macular dystrophy 2

Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.


perceptual disorders

Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.


adenosine kinase deficiency

A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.


tuberculosis, spinal

Tuberculosis of the vertebrae.


Senior-Loken syndrome 4

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.


congenital trigeminal anesthesia

Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum).


vitelliform macular dystrophy 3

Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.


non-distal trisomy 10q

Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.


dirofilariasis

Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans.


neuronal ceroid lipofuscinosis 1

A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


neurodevelopmental disorder with dysmorphic facies and distal limb anomalies


X-linked cone dysfunction syndrome with myopia is characterized by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.


immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia


benign neoplasm of retina

A benign neoplasm that involves the retina.


glutathione synthetase deficiency with 5-oxoprolinuria


acquired thrombocytopenia

An instance of thrombocytopenia that is acquired during the lifetime of the individual.


monocytopenia with susceptibility to infections


midbrain disorder

A disease or disorder that involves the midbrain.


infectious disorder of the nervous system

A infectious disease that involves the nervous system.


P5CS deficiency

An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy.


frontal lobe neoplasm

A neoplasm involving a frontal lobe.


autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.


Goldmann-Favre syndrome

A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).


spinocerebellar ataxia type 12

Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.


autosomal dominant nonsyndromic hearing loss 58

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12.


resistant hypertension

A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective.


immune deficiency due to impaired neutrophil phagocytosis and migration


Bolivian hemorrhagic fever

Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations.


thyroid malformation

An anatomic abnormality of the thyroid gland.


partial trisomy of the long arm of chromosome 9


endometrium neoplasm

A neoplasm (disease) that involves the endometrium.


Leber congenital amaurosis 17

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.


familial scaphocephaly syndrome, McGillivray type

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.


autosomal dominant progressive nephropathy with hypertension


phalangeal microgeodic syndrome

Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.


intellectual disability, autosomal recessive 66


Mayer-Rokitansky-Kuster-Hauser syndrome type 1

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.


gonococcal iridocyclitis

An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae.


cataract 45

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.


Argentine hemorrhagic fever

Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.


Alzheimer disease 3

Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.


mixed liposarcoma

A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma.


ichthyosis, congenital, autosomal recessive 14


protozoa infectious disease

An infection that is caused by protozoans.


citrin deficiency

Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).


acquired generalized lipodystrophy

Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles).


glans penis cancer

A malignant neoplasm involving the glans penis.


severe spondylodysplastic dysplasia

An instance of spondylodysplastic dysplasia that has a high degree of severity.


periodic limb movement disorder

Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)


retinitis pigmentosa 13

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.


neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus


Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait.


primary cutaneous marginal zone B-cell lymphoma

Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder.


chromosome 12p deletion

A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12.


congenital myopathy with internal nuclei and atypical cores

Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.


microcephaly 20, primary, autosomal recessive


intellectual disability, autosomal recessive 31


rhabdoid meningioma

A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets.


black piedra

A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft.


urothelial hyperplasia

Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003


EMILIN-1-related connective tissue disease


white forelock with malformations

White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.


Venezuelan hemorrhagic fever

Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.


pulmonary amyloidosis

A rare hereditary amyloidosis that incorporates deposition of amyloid microfibril material in the lung parenchyma.


inborn disorder of branched-chain amino acid metabolism

An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.


complex hereditary spastic paraplegia

A hereditary spastic paraplegia that is part of a larger syndrome.


autosomal dominant nonsyndromic hearing loss 20

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene.


X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.


mitochondrial complex 1 deficiency, nuclear type 13


mosaic trisomy 22

Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.


marginal papular palmoplantar keratoderma


self-limited familial neonatal epilepsy

A neonatal/infantile epilepsy syndrome that is characterized by the onset of seizures that start in the in the neonate between day 1 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have typical developmental progress.


systemic monochloroacetate poisoning

Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours.


sinoatrial node dysfunction and deafness

Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.


dendritic cell sarcoma not otherwise specified


arthrogryposis, distal, with impaired proprioception and touch


primary bone lymphoma

A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease.


acrodysostosis with multiple hormone resistance


Bruck syndrome

Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures.


childhood precursor T-lymphoblastic lymphoma/leukemia

A T lymphoblastic leukemia/lymphoma that occurs during childhood.


uterine cervix leukoplakia

The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present.


hearing loss, autosomal dominant 34, with or without inflammation


congenital stationary night blindness autosomal dominant 3

A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.


morning glory syndrome

Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disk malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies.


testis sarcoma

A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas.


autosomal dominant rhegmatogenous retinal detachment

Autosomal dominant form of rhegmatogenous retinal detachment.


polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG

Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait.


leishmaniasis, diffuse cutaneous

A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement.


osteogenesis imperfecta type 4

Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).


intermediate cell type ciliary body melanoma

Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells.


lymph node tuberculosis

Tuberculosis of the lymph node.


immunodeficiency 82 with systemic inflammation

A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway.


ocular siderosis

A hemosiderosis that involves the camera-type eye.


familial acute necrotizing encephalopathy

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen.


An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion.


vagina sarcoma

A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma.


metaphyseal anadysplasia

Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.


growth delay due to insulin-like growth factor I resistance

Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).


amyotrophic lateral sclerosis type 15

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.


corneal dystrophy, posterior polymorphous, 4


communicating congenital bronchopulmonary-foregut malformation


acute idiopathic urticaria

Acute form of idiopathic urticaria.


lissencephaly 7 with cerebellar hypoplasia


dartoic leiomyoma

A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora.


punctate inner choroidopathy

A rare ophthalmic disorder characterized by typically bilateral, asymmetric, yellowish, punctate chorioretinal lesions of the posterior pole forming a linear branching pattern and progressing to atrophic scars. Subretinal neovascular membranes occur in many cases. Vitritis is always absent. Patients may present with blurred vision, scotoma, floaters, photopsia, and metamorphopsia. Choroidal neovascular membrane formation and subretinal fibrosis are the major causes of visual loss. The condition predominantly occurs in young myopic females.


congenital heart defects, multiple types, 8, with or without heterotaxy


19p13.3 microduplication syndrome

19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.


premature ovarian failure 10

Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).


camptobrachydactyly

Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.


congenital mitral valve agenesis

Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation.


hemolytic anemia due to glutathione reductase deficiency

Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes.


muscular dystrophy-dystroglycanopathy, type C


neurosyphilis

Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia.


overactive bladder

Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present.


orofaciodigital syndrome type 13

Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated.


staphylococcal toxic-shock syndrome

Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection.


immunodeficiency, common variable, 12

Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.


mycobacterium xenopi infection

A disease caused by infection with Mycobacterium xenopi.


chronic closed-angle glaucoma

Chronic form of angle-closure glaucoma.


Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.


LAMA2-related muscular dystrophy

Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.


ring chromosome 17

Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region.


syphilitic meningitis

An infectious meningitis caused by infection with Treponema.


malignant neoplasm of endocervix

A cancer that involves the endocervix.


Rickettsia helvetica spotted fever

A disease caused by infection with Rickettsia helvetica.


congenital hereditary endothelial dystrophy of cornea

A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.


Duane retraction syndrome 2

Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.


immunodeficiency 93 and hypertrophic cardiomyopathy

An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects.


Leber congenital amaurosis 3

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.


endemic typhus

A bacterial infection caused by Rickettsia typhi.


thymus lipoma

A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion.


glucose metabolism disease

A metabolic disorder characterized by abnormal blood glucose levels.


hypoinsulinemic hypoglycemia and body hemihypertrophy


glycerol metabolism disease

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


Crigler-Najjar syndrome type 2

Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.


nephronophthisis 18

Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.


junctional epidermolysis bullosa Herlitz type

Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.


venous thoracic outlet syndrome

Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis.


dihydropyrimidinuria

Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.


injection anthrax

An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores.


vitamin B12- and folate-independent constitutional megaloblastic anemia


Akaba Hayasaka syndrome

A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia.


phrynoderma

Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks.


isolated megalencephaly

A megalencephaly (disease) that is not part of a larger syndrome.


pontocerebellar hypoplasia type 2C

Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.


hereditary spastic paraplegia 43

Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.


acinar dysplasia

A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4.


PCARE-related retinopathy

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


dicarboxylic aminoaciduria

Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.


Charcot-Marie-Tooth disease axonal type 2U

Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.


mitochondrial DNA maintenance syndrome

An inherited metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.


endometrioid stromal sarcoma of the cervix

A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma.


mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.


X-linked intellectual disability, van Esch type

X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.


MGAT2-congenital disorder of glycosylation

MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).


lacrimal system cancer

A cancer that involves the lacrimal apparatus.


skin appendage disorder

A disease that involves the cutaneous appendage.


prostate sarcoma

A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma.


congenital dyserythropoietic anemia type 1

Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.


neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies


apical myocardial infarction

An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart.


chromosome inversion disorder

Chromosomal disorder consisting of the presence a chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome.


facial paresis, hereditary congenital, 2


neurodegeneration with brain iron accumulation 8


early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.


pyruvate carboxylase deficiency, infantile form

Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.


malignant germ cell tumor

A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma.


sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy


benign neoplasm of epiglottis

A benign neoplasm that involves the epiglottis.


primary bone dysplasia with multiple joint dislocations


short stature-brachydactyly-obesity-global developmental delay syndrome


ichthyosis hystrix of Curth-Macklin

Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).


developmental delay with autism spectrum disorder and gait instability

Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.


linear scleroderma

A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.


hereditary spastic paraplegia 16

A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy


chorioamnionitis

A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.


hemolytic anemia due to erythrocyte adenosine deaminase overproduction

Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected.


PAGOD syndrome

PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies.


erythrocyte disorder

A disease or disorder that involves the erythrocyte.


sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.


pituitary stalk meningioma

A meningioma that affects the pituitary stalk.


glucocorticoid-remediable aldosteronism

Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.


parasitic ectoparasitic infectious disease

Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods.


Rafiq syndrome

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.


intellectual disability, autosomal dominant 2

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.


combined oxidative phosphorylation defect type 24

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.


autosomal recessive nonsyndromic hearing loss 47

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.


lymphoproliferative disease associated with primary immune disease


X-linked intellectual disability, Schimke type

X-linked mental retardation, Schimke type, is characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.


non-secretory plasma cell myeloma

A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine.


Alzheimer disease 16

An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3.


uterine body mixed cancer

A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma.


neurological muscular channelopathy due to a genetic calcium channel defect


Charcot-Marie-Tooth disease axonal type 2F

Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.


neuronopathy, distal hereditary motor, type 1

An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.