Brazilian hemorrhagic fever

Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death.


familial temporal lobe epilepsy 8

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A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.


autosomal dominant nonsyndromic hearing loss 30

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26.


Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae.


malignant cornea melanoma

A melanoma within the cornea of the eye.


macular degeneration, age-related, 3

Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.


developmental and epileptic encephalopathy, 19

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.


acquired prothrombin deficiency

An instance of prothrombin deficiency that is acquired during the lifetime of the individual.


Lujo hemorrhagic fever

Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission.


Bardet-Biedl syndrome 10

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.


intellectual disability, autosomal dominant 10

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.


Dent disease type 2

Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.


isolated osteopoikilosis

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


neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities


GNPTAB-mucolipidosis

An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.


amyotrophic lateral sclerosis type 16

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.


epidermolysis bullosa, junctional 5A, intermediate


Pelizaeus-Merzbacher disease in female carriers

Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22).


keratosis palmoplantaris striata 2

Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene.


asphyxiating thoracic dystrophy 2

Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.


malignant teratoma

A malignant form of teratoma.


X-linked dominant disease

X-linked dominant form of disease.


ring chromosome 19

Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.


intellectual developmental disorder, autosomal recessive 79


progressive bulbar palsy of childhood

A progressive bulbar palsy of childhood that occurs during childhood.


wandering spleen

A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly.


B-lymphoblastic leukemia/lymphoma with hypodiploidy

A precursor lymphoid neoplasm composed of B-lymphoblasts which contain less than 46 chromosomes. It has an unfavorable clinical outcome.


preeclampsia/eclampsia 4

Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.


asynchronous multifocal osteogenic sarcoma

A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas.


congenital herpes simplex virus infection

Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent fetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent.


extensive peripapillary myelinated nerve fibers


hypercalcemic sarcoidosis

Sarcoidosis with a complication of hypercalcemia.


neurodegeneration with brain iron accumulation 2A

A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.


RAB28-related retinopathy

A retinopathy caused by biallelic variants in the RAB28 gene.


malignant germ cell tumor of cervix uteri

A malignant germ cell tumor that involves the uterine cervix.


spinal accessory nerve neoplasm

A neoplasm involving a accessory XI nerve spinal component.


granulomatous disease, chronic, autosomal recessive, 5


Israeli tick typhus

An infectious disease caused by infection with rickettsia conorii subsp. israelensis.


papular elastorrhexis

An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities.


chromosome 18 disorder

Chromosomal disorder in which chromosome 18 is affected.


glucose transport disorder

An inherited metabolic disease that is has its basis in the disruption of glucose transport.


spondylometaphyseal dysplasia, Czarny-Ratajczak type


vaginal cancer

A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas.


muscular dystrophy, limb-girdle, autosomal dominant 4


lissencephaly with cerebellar hypoplasia

Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.


acquired adrenogenital syndrome

An instance of adrenogenital syndrome that is acquired during the lifetime of the individual.


prostate angiosarcoma

A malignant vascular neoplasm arising from the prostate.


indeterminate dendritic cell tumor

A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable.


Angelman syndrome due to a point mutation


Hypoglossia-hypodactyly syndrome

A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.


florid cystic endosalpingiosis of the uterus


malposition of the coronary ostium

Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery.


caveolinopathy

A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals


intellectual disability, X-linked, syndromic, Bain type

An X-linked dominant condition caused by mutation(s) in the HNRNPH2 gene, encoding heterogeneous nuclear ribonucleoprotein H2. It is characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features in females.


subclavian artery aneurysm

A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm.


congenital portosystemic shunt

Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumors.


philophthalmiasis

A disease caused by infection with Philophthalmus.


intra-abdominal lymph node mast cell malignancy


Summitt syndrome

Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.


humero-radio-ulnar synostosis

Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.


heterotaxy, visceral, 5, autosomal

Any visceral hetetotaxy in which the cause of the disease is a mutation in the NODAL gene.


biotin metabolic disease

A deficiency in biotin through either inherited or acquired causes.


retinitis pigmentosa 45

Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.


non-gestational choriocarcinoma

A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis.


acute sphenoidal sinusitis

Acute form of sphenoid sinusitis.


blepharocheilodontic syndrome

An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.


dermo-odonto dysplasia

Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterized by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.


neuroectodermal-endocrine syndrome

Neuroectodermal-endocrine syndrome is characterized by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.


A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.


hereditary spastic paraplegia 46

A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.


Löfgren syndrome

A sarcoidosis characterized by the triad of erythema nodosum, bilateral hilar lymphadenopathy on chest radiograph, and joint pain.


tendon sheath disorder

A disease that involves the tendon sheath.


autosomal dominant nonsyndromic hearing loss 3A

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene.


dysbaric osteonecrosis

A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism.


frontofacionasal dysplasia

Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).


autosomal recessive distal osteolysis syndrome

Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.


dedifferentiated solitary fibrous tumor

A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma.


neuronopathy, distal hereditary motor, type 2D

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.


developmental and epileptic encephalopathy, 60


hemimelia

Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.


qualitative or quantitative defects of telethonin


partial duplication of the long arm of chromosome 7

Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material 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 duplication and which genes are involved. Features that often occur in people with chromosome 7q 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.


myoclonic encephalopathy in non-progressive disorder

This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen.


nerve root neoplasm

Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression.


transient congenital hypothyroidism due to neonatal factor


hereditary sensory and autonomic neuropathy type 6

Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.


classic Hodgkin lymphoma, nodular sclerosis type


skin fragility-woolly hair-palmoplantar keratoderma syndrome


2-methylacetoacetyl CoA thiolase deficiency


Hodgkin's lymphoma, mixed cellularity

A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008)


spinocerebellar ataxia type 17

A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.


epulis

A non-neoplastic nodular lesion that arises from the gingiva.


neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity


atypical glycine encephalopathy

Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.


prostate leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells.


glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form


craniotelencephalic dysplasia

Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.


nemaline myopathy

Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.


petroclival meningioma

A meningioma that affects the petroclival region.


dendritic cell tumor

A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy.


ataxia - telangiectasia variant

Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.


mononeuritis simplex

Neuritis of a single nerve.


intellectual developmental disorder, autosomal dominant 65


autosomal recessive nonsyndromic hearing loss 20

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter.


hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency


Dandy-Walker malformation-postaxial polydactyly syndrome

Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.


monoclonal paraproteinemia disease

A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma.


benign neoplasm of choroid

A benign neoplasm that involves the optic choroid.


intravascular papillary endothelial hyperplasia

A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.


malignant soft tissue neoplasm

A malignant neoplasm arising exclusively from the soft tissues.


metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.


fetal akinesia-cerebral and retinal hemorrhage syndrome

Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.


infectious meningitis

Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.


skin disorder caused by infection

Skin diseases caused by bacteria, fungi, parasites, or viruses.


cap myopathy

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.


spinal muscular atrophy, facioscapulohumeral type


mesoblastic nephroma

A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult.


broad ligament malignant neoplasm

A malignant neoplasm involving the broad ligament of uterus.


mammary-digital-nail syndrome

Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.


neurological muscular channelopathy due to a genetic potassium channel defect


leiomyoma

A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


optic atrophy with demyelinating disease of CNS


corneal-cerebellar syndrome

A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.


toxemia of pregnancy

A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.


nephrotic syndrome, type 6

Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene.


glycosylphosphatidylinositol biosynthesis defect 15

A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.


developmental and epileptic encephalopathy, 45

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.


pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome

Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.


progressive retinal dystrophy due to retinol transport defect


myopathy, lactic acidosis, and sideroblastic anemia 1

Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.


3M syndrome 1

Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.


skeletal muscle neoplasm

A benign or malignant mesenchymal neoplasm arising from skeletal muscle.


post-COVID-19 disorder

A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection.


carbohydrate metabolism disease

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


hypersensitivity vasculitis

A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer.


16p13.11 microdeletion syndrome

16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.


adult lymphoma

A lymphoma that occurs in an adult.


posthitis

An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis.


telangiectatic osteogenic sarcoma

An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.


dermatitis herpetiformis, familial

Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.


congenital myopathy 4B, autosomal recessive

Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.


Hartnup disease

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).


melanocytic neoplasm

A benign or malignant, primary or metastatic neoplasm affecting the melanocytes.


developmental and epileptic encephalopathy 105 with hypopituitarism


myocardial disorder

A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy.


sweat gland cancer

A malignant neoplasm that affects the sweat glands.


monosomy chromosome 8

A chromosomal disorder consisting of the absence of one chromosome 8.


malignant dermis tumor

A malignant neoplasm involving the dermis.


necrotizing encephalomyelopathy, subacute, of Leigh, adult


ASAH1-related sphingolipidosis

A spectrum of disorders that includes Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid, ceramide.


glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form


carbohydrate transport disease

A disease that has its basis in the disruption of carbohydrate transport.


unilateral retinoblastoma

A retinoblastoma that only involves a single eye.


mixed cell uveal melanoma

A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells.


autosomal dominant nonsyndromic hearing loss 53

An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.


congenital insensitivity to pain-hypohidrosis syndrome

A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.


microphthalmia, isolated, with coloboma 6


hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.


autosomal dominant spondylocostal dysostosis

Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.


hereditary spastic paraplegia 77

Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.


autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.


hereditary spastic paraplegia 6

Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.


angular blepharoconjunctivitis

A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area.


disorder of folate metabolism and transport


coenzyme Q10 deficiency

A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.


Angelman syndrome due to paternal uniparental disomy of chromosome 15


hereditary spastic paraplegia 39

This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting.


acquired kinky hair syndrome

Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected.


peroxisome biogenesis disorder 13A (Zellweger)


drug-induced lupus erythematosus

An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs.


thrombophilia due to protein C deficiency, autosomal recessive


autosomal recessive nonsyndromic hearing loss 1B

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene.


limbic encephalitis with DPP6 antibodies


circadian rhythm sleep disorder

A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV)


hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome


linear skin defects with multiple congenital anomalies 2

Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene.


split hand, bilateral

Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age.


pontocerebellar hypoplasia, type 1C

Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.


developmental and epileptic encephalopathy, 21

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.


autosomal recessive nonsyndromic hearing loss 93

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.


Baraitser-winter syndrome 2

Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.


arbovirus infection

A viral infection that is transmitted by an arthropod.


facial onset sensory and motor neuronopathy

Facial onset sensory and motor neuronopathy is characterized initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.


hypogonadotropic hypogonadism 12 with or without anosmia

A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.


holoprosencephaly 9

Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.


B-lymphoblastic leukemia/lymphoma with t(17;19)


tuberculous pneumothorax

A pneumothorax in which air enters into the pleural cavity.


hereditary spastic paraplegia 57

An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.


craniometadiaphyseal dysplasia, wormian bone type

Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.


late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome


paternal uniparental disomy of chromosome 20

Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20.


cornea plana 2

Any cornea plana in which the cause of the disease is a mutation in the KERA gene.


schizophrenia 15

A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.


traumatic brain injury

A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.


middle cranial fossa meningioma

A meningioma that affects the middle cranial fossa.


dentin sensitivity

Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli.


cyclothymic disorder

An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood.


neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures


cutaneous collagenous vasculopathy

Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.


Alzheimer disease 11

An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.


nonsyndromic genetic hearing loss

A disease characterized by hearing loss that is not part of a larger syndrome.


benign lymphoepithelial lesion of salivary gland

A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma.


neoplasm of mature T-cells or NK-cells

A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells.


hereditary hyperekplexia

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.


benign carotid body paraganglioma

A carotid body paraganglioma that is confined to the site of origin, without metastatic potential.


angiodysplasia

Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.


combined oxidative phosphorylation deficiency 54


juvenile idiopathic scoliosis

A scoliosis with no known cause arising in a juvenile.


inborn disorder of ornithine or proline metabolism


agammaglobulinemia 6, autosomal recessive

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene.


GAPO syndrome

A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations


myeloid neoplasm

Proliferation of myeloid cells originating from a primitive stem cell.


necrotizing scleritis

A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern.


congenital disorder of glycosylation, type 2v


Bartter disease type 2

Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.


acquired polycythemia

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


intellectual disability, autosomal recessive 25


brain-lung-thyroid syndrome

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).


drug-induced akathisia

An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.


porphyria

Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.


eye adnexa disorder

A disease involving the ocular adnexa.


tick paralysis

Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks.


inborn disorder of pyridoxine metabolism

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


dyskinesia with orofacial involvement, autosomal dominant

A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.


ring chromosome 16

Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature.


congenital disorder of glycosylation, type iit


developmental and epileptic encephalopathy, 14

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.


Volkmann contracture

An ischemic contracture of the forearm that most often occurs secondary to trauma.


cortical dysplasia, complex, with other brain malformations 10


infectious discitis

An infection of the intervertebral disk space.


hyperphosphatasia with intellectual disability syndrome 1

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


autosomal dominant optic atrophy

An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.


bilateral retinoblastoma

Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.


frontal fibrosing alopecia

Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp.


glossopharyngeal nerve disorder

A disease involving the glossopharyngeal nerve.


congenital absence of both forearm and hand, bilateral

Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand.


grade III meningioma

A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma.


Friedreich ataxia with retained reflexes


trisomy 17p

Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.


patent ductus arteriosus 3

Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.


familial hemophagocytic lymphohistiocytosis 3

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.


Desulfovibrionaceae infectious disease

Infections with bacteria of the family Desulfovibrionaceae.


neuroaxonal dystrophy

A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)


fibrocartilaginous embolism

Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disk of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy.


intellectual disability, autosomal dominant 6

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.


developmental and epileptic encephalopathy, 55


myoclonic dystonia 15

A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.


distal trisomy 17q

Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.


congenital heart defects, multiple types


bladder lateral wall cancer

The aspect of the bladder wall that is located on the side.


congenital unguarded mitral orifice

Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported.


anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.


angioosteohypotrophic syndrome

Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.


herpes zoster dermatitis

Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve.


trilateral retinoblastoma

Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999).


palpebral nevus

A melanocytic nevus that involves the skin of eyelid.


Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).


uterine benign neoplasm

A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp.


craniosynostosis syndrome, autosomal recessive

Autosomal recessive form of craniosynostosis.


epileptic encephalopathy, infantile or early childhood, 2


erythropoietic uroporphyria associated with myeloid malignancy


acute hemorrhagic encephalitis

Acute encephalitis that is characterized by bleeding.


autosomal dominant aplasia and myelodysplasia


epithelioid hemangioendothelioma

A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.


neurodevelopmental disorder with hearing loss and spasticity


retinitis pigmentosa 54

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


Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.


congenital supravalvular mitral ring

Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.


McLeod neuroacanthocytosis syndrome

A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.


NDE1-related microhydranencephaly

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.


autosomal recessive nonsyndromic hearing loss 3

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene.


peroxisome biogenesis disorder 10A (Zellweger)


corneal dystrophy, lattice type 3A

Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.


basal ganglia calcification, idiopathic, 4


calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia


mucolipidosis type III, alpha/beta

Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.


patterned macular dystrophy 1

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


placental villitis

Inflammatory process that involves the chorionic villi (villitis) of the placenta.


benign mastocytoma

A localized mast cell neoplasm without metastatic potential.


Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.


X-linked spinocerebellar ataxia type 3

A form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.


frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene.


cranioectodermal dysplasia 1

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.


PRKAR1B-related neurodegenerative dementia with intermediate filaments


bilineal acute myeloid leukemia

An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003


polydactyly of a triphalangeal thumb, bilateral


amyotrophic lateral sclerosis type 20

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene.


aromatase deficiency

Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.


macrothrombocytopenia, isolated, 1, autosomal dominant

Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.


alcoholic ketoacidosis

An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae.


progressive encephalomyelitis with rigidity and myoclonus


immunotactoid or fibrillary glomerulopathy

A group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG.


viral infection of central nervous system


pulmonary hypertension, primary, 4

Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.


collagen type III glomerulopathy

A rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed.


contractures-ectodermal dysplasia-cleft lip/palate syndrome

Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.


microphthalmia, isolated, with coloboma 5

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.


spinocerebellar ataxia type 6

Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.


mast syndrome

Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.


unilateral multicystic dysplastic kidney

Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.


developmental and epileptic encephalopathy, 84


gonococcal salpingitis

An salpingitis caused by infection with Neisseria gonorrhoeae.


partial monosomy of the long arm of chromosome 9


fibrosis of extraocular muscles, congenital, 3b


childhood disintegrative disorder

A rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.


46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.


infantile-onset X-linked spinal muscular atrophy

A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.


prostate stromal sarcoma

A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism.


amyotrophic lateral sclerosis type 10

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


intellectual disability, autosomal recessive 46

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.


myofibrillar myopathy 8

Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.


neuropathy, hereditary sensory and autonomic, type 2B

Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene.


complement component 9 deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.


congenital alveolar dysplasia due to FGF10

Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.


macular amyloidosis

Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis.


adolescent/adult onset autosomal dominant epilepsy with auditory features

A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.


idiopathic linear interstitial keratitis

Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated.


arthrogryposis-ectodermal dysplasia-other anomalies syndrome


dysostosis, Stanescu type

Stanescu type dysostosis is a rare form of osteosclerosis.


spastic ataxia 4

Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MTPAP gene.


fibroosseous pseudotumor of the digits

A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion.


vascular ectasia

Dilatation of the blood vessels.


autosomal recessive distal spinal muscular atrophy 2

Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).


developmental and epileptic encephalopathy 6B


digitotalar dysmorphism

Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.


congenital mitral valve insufficiency and/or stenosis


ocular cicatricial pemphigoid

Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system.


intellectual disability, autosomal dominant 20

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.


cataract 29

A cataract that has material basis in variation in the region 2pter-p24.


junctional epidermolysis bullosa with pyloric atresia

Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.


hypoplastic left heart syndrome 1

Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene.


MASA syndrome

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.


nasolacrimal duct cyst

Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.


complex neurodevelopmental disorder with motor features

A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.


B-lymphoblastic leukemia/lymphoma with hyperdiploidy

A precursor lymphoid neoplasm composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. It has a favorable clinical outcome.


neonatal intrahepatic cholestasis due to citrin deficiency

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.


Haim-Munk syndrome

Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.


AIDS dementia complex

A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)


irritant dermatitis

An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site.


congenital bile acid synthesis defect 6

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.


atypical dopamine transporter deficiency syndrome

A subset of SLC6A3-related DTDS cases which have later onset which ranges from late childhood to adulthood. This disorder is characterized by the presentation of parkinsonism-dystonia, rigidity, tremor, and bradykinesia after normal childhood development.


acute myeloid leukemia, t(10;11)(p12;q23)

Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.)


severe combined immunodeficiency due to CORO1A deficiency


odontochondrodysplasia 1

A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.


frontotemporal dementia and/or amyotrophic lateral sclerosis 2

An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.


suprabasal epidermolysis bullosa simplex

A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes.


Bickerstaff brainstem encephalitis

Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma).


hypogonadotropic hypogonadism 27 without anosmia


overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism.


salpingitis isthmica nodosa

Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy.


juvenile cataract-microcornea-renal glucosuria syndrome

Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.


autosomal recessive spinocerebellar ataxia 16

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.


incessant infant ventricular tachycardia

Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure.


thymic dysplasia

The developmental arrest and architectural distortion of the thymus that results in immunodeficiency.


congenital dyserythropoietic anemia type 4

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.


Eales disease

Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss.


atopic keratoconjunctivitis

Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis.


proximal myopathy with extrapyramidal signs

Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.


familial syringomyelia

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


symphalangism, proximal, 1B

Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene.


partial duplication of the long arm of chromosome 12

Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. 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 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, 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.


congenital achiasma

Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.


anti-neutrophil antibody associated vasculitis

Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls.


ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant


hereditary motor and sensory neuropathy, Okinawa type

Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.


infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome


Mendelian neurodevelopmental disorder

A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome.


lymphoblastic leukemia, acute, with lymphomatous features


fibrothecoma

A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma.


trichofolliculoma

Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair.


frontotemporal dementia and/or amyotrophic lateral sclerosis 3

An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.


congenital vitamin K-dependent coagulation factors deficiency

Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors.


hemolytic anemia with thermal sensitivity of red cells


Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.


progressive rubella panencephalitis

A neurological disorder arising from primary rubella infection of the brain, characterized by chronic encephalitis. It is believed to be due to a persistence or reactivation of rubella virus infection. It usually manifesting between 8–19 years of age.


glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.


pituitary hormone deficiency, combined, 6

Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.


renal dysplasia, unilateral

Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.


alcohol-induced disorders

Disorders stemming from the misuse and abuse of alcohol.


adult choroid plexus neoplasm

A choroid plexus neoplasm that occurs in an adult.


Charcot-Marie-Tooth disease type 1D

A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.


type II mixed cryoglobulinemia

Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody).


Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly.


syndromic X-linked intellectual disability 14

Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene.


hereditary sensory and autonomic neuropathy type 1

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.


partial duplication of the short arm of chromosome 17


12q14 microdeletion syndrome

12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.


agammaglobulinemia 10, autosomal dominant

An agammaglobulinemia characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. Laboratory studies show low or absent circulating B cells and hypo- or agammaglobulinemia. Affected individuals may have adverse reactions to certain vaccinations, such as the polio vaccine. Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported.


mitochondrial complex 1 deficiency, nuclear type 22


developmental and epileptic encephalopathy, 7

KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.


collagen 6-related myopathy

A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.


uterine corpus mixed epithelial and mesenchymal neoplasm

A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma.


acute rheumatic heart disease

Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci).


nemaline myopathy 5B, autosomal recessive, childhood-onset


adult intestinal botulism

A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.


amyotrophic lateral sclerosis 27, juvenile


AGAT deficiency

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.


tremor, hereditary essential, 5

Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene.


Curry-Jones syndrome

Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.


pigment dispersion syndrome

Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.


uremic neuropathy

Neuropathy resulting from uremia.


Balo concentric sclerosis

Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity.


X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.


Seckel syndrome 9

Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene.


ocular albinism with late-onset sensorineural deafness

Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome.


sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis


Neu-Laxova syndrome 1

Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.


undifferentiated round cell sarcoma

An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio.


linear skin defects with multiple congenital anomalies 1

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


polyvalvular heart disease syndrome

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.


congenital stationary night blindness 2A

Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene.


polyneuropathy in collagen vascular disease


oocyte/zygote/embryo maturation arrest 20


age related macular degeneration 7

Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene.


absence of the pulmonary artery

Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age.


hypomyelinating leukodystrophy 2

Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.


trisomy

A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.


smooth muscle cancer

A malignant neoplasm arising from smooth muscle.


hereditary thrombocytosis with transverse limb defect

Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.


chorea, remitting, with nystagmus and cataract