extrinsic asthma

description: A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies.


immunoglobulin d level in plasma, low

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


bullous keratopathy

description: Keratopathy that is characterized by the presence of epithelial bullae.


achalasia microcephaly syndrome

description: Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed.


actinomycosis

description: Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious.


name: hyperpigmentation of Fuldauer and Kuijpers


name: congenital primary megaureter, obstructed form


Parvoviridae infectious disease

description: Virus infections caused by the parvoviridae.


name: diencephalic-mesencephalic junction dysplasia syndrome 2


hyperphalangy

description: Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.


glucocorticoid-induced osteoporosis

description: An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption.


atypical autism

description: Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '


erythroplakia

description: A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma.


gonococcal prostatitis

description: An prostatitis (disease) caused by infection with Neisseria gonorrhoeae.


FOXG1 syndrome

description: A rare genetic neurological disorder characterized by early onset of microcephaly, severe global developmental delay and cognitive impairment, dyskinesia and hyperkinetic movements, visual impairment, autistic behavior, stereotypies, sleep disturbance, epilepsy, and cerebral malformations (such as corpus callosum hypogenesis, forebrain anomaly, and delayed myelination). Speech is minimal or absent, and ambulation is not attained. Patients with a larger 14q12 microdeletion show a more severe phenotype than those with intragenic alterations, with the addition of facial dysmorphism and agenesis of the corpus callosum.


name: triphalangeal thumb with double phalanges


name: neuroaxonal dystrophy renal tubular acidosis


chronic cystitis

description: Recurrent infections of the urinary bladder.


mosaic trisomy 18

description: Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism.


autosomal recessive brachyolmia

description: Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.


Spondylospinal thoracic dysostosis

description: Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life.


subglottis cancer

description: A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas.


benign endocrine neoplasm

description: A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.


RET fusion positive cancer

description: Neoplasm associated with expression of a RET (REarranged during Transfection) fusion. RET fusion-positive tumors have been identified in a broad range of solid tumor types, including multiple endocrine neoplasia 2 (MEN2), papillary thyroid carcinoma (PTC), non-small cell lung cancer (NSCLC), invasive breast cancers, and pancreatic ductal adenocarcinomas in addition to colorectal adenocarcinoma, melanoma, small cell lung cancer, neuroblastoma, and small intestine neuroendocrine tumors.


name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta


name: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities


hypotrichosis 5

description: A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.


name: peroxisome biogenesis disorder due to PEX1 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.


cataract-ataxia-deafness syndrome

description: Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.


childhood pleomorphic rhabdomyosarcoma

description: A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells.


benign PEComa

description: A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures.


name: osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

description: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.


retroperitoneal lymphoma

description: A lymphoma that involves the retroperitoneal space.


name: rolandic epilepsy-speech dyspraxia syndrome

description: A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.


name: dysraphism-cleft lip/palate-limb reduction defects syndrome


name: X-linked intellectual disability-spastic quadriparesis syndrome


name: pulmonary artery coming from patent ductus arteriosus


furuncular myiasis

description: Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis).


inborn disorder of purine metabolism

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


description: Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.


name: microcephalic osteodysplastic primordial dwarfism


Gomez-Lopez-Hernandez syndrome

description: A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.


name: zinc-responsive necrolytic acral erythema


cardiovascular cancer

description: A primary or metastatic malignant neoplasm involving the cardiovascular system.


name: inborn disorder of serine family metabolism

description: An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process.


name: Bicervical bicornuate uterus and blind hemivagina


name: qualitative or quantitative protein defects in neuromuscular diseases


familial hyperaldosteronism

description: Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.


name: developmental and epileptic encephalopathy 31B


name: melanoma, cutaneous malignant, susceptibility to, 6


platelet-type bleeding disorder 12

description: An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.


trombiculiasis

description: Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus.


Nematoda infectious disease

description: Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans.


familial Dupuytren contracture

description: Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared).


name: axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy


description: This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia.


pneumonic pasteurellosis

description: Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal.


dyskeratosis congenita, X-linked

description: X-linked form of dyskeratosis congenita.


hereditary spastic paraplegia 37

description: Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.


name: endometrioid stromal and related neoplasms of the vagina

description: A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma.


RP1-related recessive retinopathy

description: An autosomal dominant retinopathy caused by variants in the RP1 gene.


chromosome 17q12 duplication syndrome

description: 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.


cavitary myiasis

description: Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.


name: myopathy, epilepsy, and progressive cerebral atrophy


angiomyxoma

description: A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells, and vascular proliferation in a myxoid stroma.


name: keratosis palmaris et plantaris-clinodactyly syndrome

description: Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.


name: inborn disorder of phenylalanine and tyrosine metabolism


description: Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.


inherited Fanconi renotubular syndrome

description: An instance of Fanconi renotubular syndrome that is inherited.


pancytopenia due to IKZF1 mutations

description: Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene.


name: resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha


name: intellectual disability, autosomal recessive 28


name: facial paresis, hereditary congenital, 1


skin sarcoidosis

description: Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation.


name: Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome


name: interstitial granulomatous dermatitis with arthritis

description: Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes.


name: epilepsy of infancy with migrating focal seizures

description: This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children.


name: myopathy, congenital, with excess of muscle spindles


acquired laryngomalacia

description: A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures.


name: congenital disorder of glycosylation, type IIaa


name: melanoma, cutaneous malignant, susceptibility to, 4


name: mitochondrial complex 1 deficiency, nuclear type 11


name: autosomal recessive nonsyndromic hearing loss 65

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3.


name: microcephaly, retinitis pigmentosa, and sutural cataract


spotted fever

description: A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia.


name: epidermolysis bullosa with diaphragmatic hernia


Usher syndrome type 1K

description: An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1.


CHEK2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the CHEK2 gene. Pathogenic germline variation in CHEK2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer and prostate cancer.


name: split-hand/foot malformation with long bone deficiency 2


description: X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterized by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localized to the q12-q21 region of the X chromosome.


9p13 microdeletion syndrome

description: 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).


name: rhabdoid tumor predisposition syndrome 1

description: Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.


name: secondary hypoparathyroidism due to impaired parathormon secretion


atypical depressive disorder

description: A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection.


soft tissue amyloid neoplasm

description: A soft tissue neoplasm composed of acellular amyloid material.


name: intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly


name: neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities


name: autosomal recessive nonsyndromic hearing loss 45

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44.


name: thickened earlobes-conductive deafness syndrome

description: Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant.


name: cloverleaf skull-multiple congenital anomalies syndrome

description: This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.


neuroendocrine disorder

description: A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli.


iris cancer

description: A malignant neoplasm involving the iris.


name: hereditary hemorrhagic telangiectasia type 4


name: hyperinsulinemic hypoglycemia, familial, 8


vaginal melanoma

description: A primary malignant neoplasm of the vagina composed of malignant melanocytes.


name: multinodular and vacuolating neuronal tumor

description: A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres.


name: cataracts, hearing impairment, nephrotic syndrome, and enterocolitis


myotonic dystrophy, Japanese quail

description: Myotonic dystrophy that occurs in Japanese quail.


name: radioulnar synostosis, radial ray abnormalities, and severe malformations in the male


TSPAN12-related vitreoretinopathy

description: A vitreoretinopathy caused by variants in the TSPAN12 gene.


parametritis

description: Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament.


occlusion precerebral artery

description: Evidence of occlusion and stenosis of unspecified precerebral artery.


name: hypogonadotropic hypogonadism 25 with anosmia


name: developmental and epileptic encephalopathy, 70


heterophyiasis

description: An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection.


streptococcal toxic-shock syndrome

description: Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection.


name: autoimmune disorder of peripheral nervous system

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


name: familial clubfoot due to PITX1 point mutation


name: chronic neurovisceral acid sphingomyelinase deficiency


retinal drusen

description: Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.


20p13 microdeletion syndrome

description: 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.


solitary osseous plasmacytoma

description: A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion.


TTN-related myopathy

description: A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes.


piedra

description: Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species.


uterine corpus adenocarcinofibroma

description: A adenocarcinofibroma that involves the body of uterus.


isolated congenital ectropion

description: A congenital ectropion that is not part of a larger syndrome.


mesomelic dysplasia, Kantaputra type

description: Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.


scrotal disorder

description: A disease or disorder that involves the scrotum.


TEK-related primary glaucoma

description: Any primary hereditary glaucoma in which the cause of the disease is a mutation in the TEK gene.


name: mucopolysaccharidosis type 6, slowly progressing


complete trisomy 13

description: Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism.


benign vaginal neoplasm

description: A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus.


name: neurodevelopmental disorder with motor and speech delay and behavioral abnormalities


name: partial trisomy of the long arm of chromosome 20


description: A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively.


name: disorder of fatty acid oxidation and ketogenesis


chronic conjunctivitis

description: Conjunctivitis that is persistent and long-standing.


isolated focal cortical dysplasia

description: Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.


name: cone-rod synaptic disorder syndrome, congenital nonprogressive


prurigo nodularis

description: Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities.


acute dacryoadenitis

description: Acute form of dacryoadenitis.


name: dyskeratosis congenita, autosomal recessive 1

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.


primary cutaneous lymphoma

description: Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular etiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities.


name: factor 9 and Factor XI, combined deficiency of


epithelioid type angiomyolipoma

description: An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia.


name: idiopathic multicentric Castleman disease


femoral-facial syndrome

description: Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.


intraocular medulloepithelioma

description: Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disk, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.


nodular lichen myxedematosus

description: Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption.


hereditary spastic paraplegia 29

description: Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.


sterol metabolism disorder

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


PALB2-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the PALB2 gene. Pathogenic germline variation in PALB2 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, and pancreatic cancer.


acute laryngopharyngitis

description: An upper respiratory tract disease which involves inflammation of both larynx and pharynx.


name: double outlet right ventricle with non-committed subpulmonary ventricular septal defect


Johnson neuroectodermal syndrome

description: Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.


chondromalacia patellae

description: Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission.


name: neurodevelopmental disorder with seizures and brain abnormalities


benign soft tissue neoplasm

description: A non-metastasizing neoplasm that arises from the soft tissue.


mosaic trisomy 15

description: Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.


name: neurodevelopmental disorder with language impairment and behavioral abnormalities


essential hypertension, genetic

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


name: amelia cleft lip palate hydrocephalus iris coloboma


background diabetic retinopathy

description: An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels.


vitamin B deficiency

description: A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat.


childhood brain meningioma

description: A brain meningioma that occurs during childhood.


name: epidermolysis bullosa dystrophica with subcorneal cleavage


name: spondyloepimetaphyseal dysplasia with joint laxity, type 3


name: dyssegmental dysplasia, Rolland-Desbuquois type


name: Ehlers-Danlos syndrome, vascular-like type

description: Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.


alveolar echinococcosis

description: Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice.


name: Kallmann syndrome-heart disease syndrome

description: Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome.


name: melanoma in congenital melanocytic nevus

description: A melanoma of the skin arising in a congenital melanocytic nevus.


name: melanoma, cutaneous malignant, susceptibility to, 2

description: Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed)


name: autosomal recessive nonsyndromic hearing loss 85

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2.


name: double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy


name: congenital pseudoarthrosis of the fibula


distal trisomy 2q

description: Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.


Aeromonas hydrophila infectious disease

description: Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria.


epidemic pleurodynia

description: An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses.


sudden cardiac arrest

description: The sudden loss of all heart activity due to an irregular heart rhythm.


multibacillary leprosy

description: A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response.


name: immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome


linear atrophoderma of Moulin

description: Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The etiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene.


trichodysplasia-xeroderma syndrome

description: Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.


name: autosomal dominant nonsyndromic hearing loss 59

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3.


atypical lymphoproliferative disorder

description: A lymphoproliferative disorder characterized by the presence of an atypical lymphocytic infiltrate.


hydrosalpinx

description: Fluid accumulation and dilatation of the fallopian tube due to tubal blockage.


neoplasm of hypopharynx

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


name: neurodevelopmental disorder with microcephaly, seizures, and brain atrophy


cutaneous mastocytoma

description: Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.


presbyopia

description: The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation.


choroideremia-deafness-obesity syndrome

description: Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.


name: round cell sarcoma with FUS-NFATC2 gene fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.


name: periodic paralysis with later-onset distal motor neuropathy


motor nerve neuritis

description: Inflammation of the peripheral motor nerves.


reproductive system cancer

description: A malignant neoplasm involving the reproductive organ


dermoid cyst of skin

description: A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure.


name: non-specific autoimmune cerebellar ataxia without characteristic antibodies


trigeminal nerve disorder

description: A disease involving the trigeminal nerve.


cervical dermoid cyst

description: Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia.


vaginal carcinosarcoma

description: An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component.


name: congenital absence of both lower leg and foot


acute retrobulbar neuritis

description: Acute form of retrobulbar neuritis.


name: neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures


16q24.1 microdeletion syndrome

description: 16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).


name: spastic paraplegia-precocious puberty syndrome

description: Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.


lichen nitidus

description: A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses.


name: facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome


uterus intravascular leiomyomatosis

description: A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma.


name: neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum


name: classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

description: The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.


name: acute anterolateral myocardial infarction

description: Acute form of anterolateral myocardial infarction.


benign neoplasm of lower jaw bone

description: A benign neoplasm that involves the bone of lower jaw.


schizophrenia 3

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.


rhinophyma

description: Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose.


name: ectrodactyly of lower limbs, congenital heart defect, and micrognathia


hemiparkinsonism-hemiatrophy syndrome

description: Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.


hearing loss with skin disease

description: Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes.


TPM2-related myopathy

description: A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree.


name: qualitative or quantitative defects of beta-myosin heavy chain (MYH7)


name: intellectual developmental disorder with hypertelorism and distinctive facies


distal monosomy 7q36

description: Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.


Kilquist syndrome

description: An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis.


name: congenital disorder of glycosylation, type IIz


sensory organ benign neoplasm

description: A benign neoplasm that involves the sense organ.


name: POMGNT2-related limb-girdle muscular dystrophy R24


viral laryngitis

description: Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus.


Osebold-Remondini syndrome

description: A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.


spitzoid melanoma

description: A junctional or compound melanocytic neoplasm not fulfilling the histopathologic criteria of melanoma but with one of the following features: asymmetry, predominance of single melanocytes over nests in lesions 4 mm or larger, ulceration, large dermal sheets of melanocytes, lack of maturation in dermis, deep dermal mitotic figures, extensive involvement of subcutis, and nuclear pleomorphism. (Mod Pathol 2006;19: S21)


streptococcal sore throat

description: Inflammation of the throat due to Streptococcus pyogenes.


name: polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive

description: A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.


baroreflex failure

description: Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques.


polyp of vulva

description: A polyp that involves the mammalian vulva.


chordoid meningioma

description: A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma.


synovium neoplasm

description: A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath.


auditory system cancer

description: A malignant neoplasm involving the auditory system


name: congenital myopathy with myasthenic-like onset

description: Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.


name: Prader-Willi syndrome due to paternal 15q11q13 deletion


name: congenital systemic arteriovenous fistula


name: papillomatosis, confluent and reticulated


muscular channelopathy

description: A channelopathy that involves the muscle tissue.


name: urolithiasis, uric acid, autosomal dominant


aniseikonia

description: A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.


Rothmund-Thomson syndrome type 1

description: Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer.


diffuse cutaneous mastocytosis

description: Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM).


name: B-cell childhood acute lymphoblastic leukemia

description: An acute B-lymphoblastic leukemia occurring in children.


adiposis dolorosa

description: Adiposis dolorosa or Dercum's disease is characterized by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy.


sexually transmitted disease

description: A Disease due to or propagated by sexual contact.


description: Any exudative vitreoretinopathy with or without osteoporosis caused by variants in the LRP5 gene.


name: early-onset posterior subcapsular cataract


name: autosomal recessive cerebellar ataxia with late-onset spasticity

description: Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated.


synovial bursa disorder

description: A disease or disorder that involves the synovial bursa.


juvenile ankylosing spondylitis

description: Ankylosing spondylitis occurring in children or adolescents.


name: microcephaly 29, primary, autosomal recessive


name: recessive dystrophic epidermolysis bullosa inversa

description: Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.


name: ovarian cancer, familial, susceptibility to, 3


TUBB2A-related tubulinopathy

description: A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features.


childhood malignant mesenchymoma

description: A malignant mesenchymoma occurring in children.


name: adult type testicular granulosa cell tumor

description: A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases.


non-Zellweger spectrum disorder

description: A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.


name: neuromuscular disease and ocular or auditory anomalies with or without seizures


name: combined oxidative phosphorylation deficiency 46


name: food protein-induced enterocolitis syndrome

description: An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated.


name: autosomal recessive intermediate Charcot-Marie-Tooth disease

description: Autosomal recessive form of intermediate Charcot-Marie-Tooth disease.


petrous apex meningioma

description: A meningioma that affects the petrous apex.


May-Thurner syndrome

description: A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation.


name: acute myeloid leukemia, t(11;19)(q23;p13)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.)


name: autoinflammatory syndrome due to TBK1 deficiency

description: Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene.


acquired schizencephaly

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


name: hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

description: Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.


myiasis

description: The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes.


name: developmental and epileptic encephalopathy, 81


fasciolopsiasis

description: A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response.


name: muscular dystrophy, limb-girdle, autosomal recessive 26


name: hypothyroidism due to iodide transport defect

description: A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.


coccidiosis

description: A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting.


Far-East scarlet-like fever

description: A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe.


tick-borne relapsing fever

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


akinetopsia

description: An agnosia that is a loss of motion perception.


name: neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities

description: An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems.


chronic endophthalmitis

description: Chronic form of endophthalmitis.


name: muscular dystrophy, Hemizygous lethal type


name: unilateral aplasia of the mullerian ducts


Kienbock disease

description: Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function.


name: chronic relapsing inflammatory optic neuropathy

description: A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.


Rothmund-Thomson syndrome

description: Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.


acquired testicular failure

description: Testicular failure, the cause of which is not present at birth.


name: neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities


traumatic myositis ossificans

description: Myositis Ossificans resulting from trauma.


name: Preaxial polydactyly of toes, unilateral


acute lichenoid pityriasis

description: A rare skin disorder of unknown etiology that is considered to be a more severe form of pityriasis lichenoides. It is characterized by itchy, burning papular lesions which form open sores with red-brown crusts. Low grade fever, headache, malaise, and arthralgias may occasionally precede or accompany the skin findings.


description: X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.


multiple endocrine neoplasia type 4

description: Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.


name: neuronopathy, distal hereditary motor, autosomal recessive 3

description: A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.


name: intellectual developmental disorder with autism and dysmorphic facies


mixed phenotype acute leukemia

description: An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.


name: preaxial digit brachydactyly-webbed fingers


name: combined oxidative phosphorylation deficiency 51


cassavism

description: A poisoning that is caused by exposure to fruit of the Cassava plant (Manihot esculenta), contains linamarin, a cyanogenic glucoside. If a person eats improperly prepared products, cassavism (locally termed konzo or mantakassa) may develop, which features toxic ataxic neuropathy.


congenital vascular malformation

description: A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.


ringed hair disease

description: Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.


name: chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome


inborn aminoacylase deficiency

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


name: generalized epilepsy with febrile seizures plus, type 12


paratesticular lipoma

description: A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range.


name: neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities


Olmsted syndrome

description: A hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.


acquired primary ovarian failure

description: An instance of primary ovarian failure that is acquired during the lifetime of the individual.


Thiemann disease, familial form

description: Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.


name: acute myeloid leukemia, t(6;11)(q27;q23)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.)


chronic asthma

description: An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency.


brachial plexus neoplasm

description: A neoplasm (disease) that involves the brachial nerve plexus.


name: neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures


ring chromosome 9

description: Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.


name: metaphyseal dysplasia, anetoderma, and optic atrophy


name: fibromatosis, gingival, with hypertrichosis and intellectual disability


primary adult heart tumor

description: Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms).


spongiotic dermatitis

description: A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication.


name: intellectual developmental disorder, autosomal dominant 69


name: Pelger-Huet-like anomaly and episodic fever with abdominal pain

description: An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε.


name: renal tubulopathy-encephalopathy-liver failure syndrome

description: Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders.


viral respiratory tract infection

description: A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus.


benign eccrine neoplasm

description: A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma.


sensory ganglionopathy

description: A disease or disorder that involves the sensory ganglion.


dyshidrosis

description: A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed)


disorder of optic chiasm

description: A disease that involves the optic chiasma.


name: hypotonia, seizures, and precocious puberty


name: amyotrophic lateral sclerosis with polyglucosan bodies


name: factor VIII and Factor IX, combined deficiency of


RAD51C-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the RAD51C gene. Pathogenic germline variation in RAD51C confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including ovarian cancer, triple negative breast cancer and ER negative breast cancer.


name: neurodevelopmental disorder with progressive movement abnormalities


name: Charcot-Marie-Tooth disease, axonal, IIa 2II


name: combined immunodeficiency due to RELA haploinsufficiency


neuroblastoma, susceptibility to, 3

description: Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene.


pemphigus erythematosus

description: Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.


oesophagostomiasis

description: Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans.


fetal cytomegalovirus syndrome

description: An infection with the Cytomegalovirus that is present from birth.


retinohepatoendocrinologic syndrome

description: Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family.


description: Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia.


name: eccrine syringofibroadenomatosis with eyelid abnormalities


name: congenital disorder of deglycosylation 2


proximal-type epithelioid sarcoma

description: An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma.


name: macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin


name: myeloid/lymphoid neoplasm associated with JAK2 rearrangement

description: Hematologic neoplasms characterized by the presence of t(8;9)(p22;p24.1) that results in PCM1-JAK2 fusion gene expression. It is associated with eosinophilia, bone marrow findings of left-shifted erythroid predominance, lymphoid aggregates, and often myelofibrosis. Rare cases present as T- or B-acute lymphoblastic leukemia.


acute closed-angle glaucoma

description: Acute form of angle-closure glaucoma.


bipartite talus

description: Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling.


name: acromegaloid changes, cutis verticis gyrata, and corneal leukoma


name: neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies


potassium deficiency

description: A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed)


benign chondrogenic neoplasm

description: A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma.


name: limbic encephalitis with LGI1 antibodies

description: Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.


bowenoid papulosis

description: Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported.


name: facial dysmorphism, selective tooth agenesis, and choroid calcification


RNU7-1-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


name: nasopharyngeal carcinoma, susceptibility to, 2


choroid neoplasm

description: A neoplasm (disease) that involves the optic choroid.


benign neoplasm of brain stem

description: A benign neoplasm that involves the brainstem.


name: mesomelic dwarfism, Reinhardt-Pfeiffer type

description: Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.


transient arthropathy

description: Arthropathy that is not permanent.


description: Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).


Kimura disease

description: Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease.


name: peroxisome biogenesis disorder, complementation group 3


description: A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses.


name: mitochondrial complex 1 deficiency, nuclear type 7


name: hyperinsulinemic hypoglycemia with polycystic kidney disease

description: Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter.


benign metanephric tumor

description: A benign neoplasm that involves the metanephros.


testis refractory cancer

description: Malignant testicular germ cell tumor that is resistant to treatment.


name: ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies


name: combined deficiency of factor VII and factor X


name: retinal dystrophy in systemic or cerebroretinal lipidoses


Brill-Zinsser disease

description: A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii.


HBA2-related alpha thalassemia spectrum

description: Mild microcytic anemia caused by biallelic variation in the HBA2 gene.


name: developmental delay, hypotonia, and impaired language


giant papillary conjunctivitis

description: Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva.


name: ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin


chronic cervicitis

description: Chronic inflammation of the cervix.


mesomelic dysplasia

description: A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).


limbic encephalitis

description: A group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy.


juvenile temporal arteritis

description: Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs.


cataract 24

description: A cataract that has material basis in variation in the region 17p13.


pediatric osteosarcoma

description: An osteosarcoma occurring in childhood.


cancer affecting bone of limb skeleton

description: A cancer that involves the limb bone.


name: focal segmental glomerulosclerosis and neurodevelopmental syndrome

description: A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed.


acute cor pulmonale

description: A form of acute right heart failure produced by a sudden increase in resistance to blood flow in the pulmonary circulation.


ciliary body neoplasm

description: A neoplasm (disease) that involves the ciliary body.


name: partial deletion of the short arm of chromosome 10


Leri pleonosteosis

description: Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.


name: dyskeratosis congenita, autosomal dominant 6

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.


name: mixed epithelial stromal tumor of the kidney

description: A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria.


name: dyskinesia with orofacial involvement, autosomal recessive


hair nevus

description: A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion.


Venezuelan equine encephalitis

description: A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting.


name: benign infantile seizures associated with mild gastroenteritis

description: Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness.


name: double uterus-hemivagina-renal agenesis syndrome

description: Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.


name: immunodeficiency due to a late component of complement deficiency

description: A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.


name: Kallmann syndrome with spastic paraplegia


name: spondylometaphyseal dysplasia, East African type


name: optic atrophy 13 with retinal and foveal abnormalities


name: diffuse idiopathic skeletal hyperostosis

description: This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.


ATM-related cancer predisposition

description: Hereditary cancer predisposition due to variation(s) in the ATM gene. Pathogenic germline variation in ATM confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer.


plasma cell leukemia

description: An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count.


name: congenital pulmonary airway malformation type 2


autoimmune encephalitis

description: Inflammation of the brain secondary to an immune response triggered by the body itself.


vulvar dystrophy

description: A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness.


name: alanine glyoxylate aminotransferase deficiency

description: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.


brain stem medulloblastoma

description: A medulloblastoma that involves the brainstem.


viral sexually transmitted disease

description: Viral diseases which are potentially transmitted or propagated by sexual conduct.


erythema palmare hereditarium

description: A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient.


MMEP syndrome

description: A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.


familial temporal lobe epilepsy 6

description: A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.


autosomal dominant myoglobinuria

description: Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.


name: chromosome 16p12.2-p11.2 deletion syndrome

description: 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


Acropectorovertebral dysplasia

description: A skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).


Pectobacterium carotovorum infection

description: A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems).


mesenchymal hamartoma

description: A hamartoma characterized by the presence of mesenchymal elements.


name: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2

description: An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.


name: blepharophimosis - intellectual disability syndrome


name: autosomal dominant nonsyndromic hearing loss 24

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter.


name: blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

description: Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.


Histoplasma pericarditis

description: An pericarditis (disease) caused by infection with Histoplasma.


retinal vascular disorder

description: Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage.


name: intellectual developmental disorder with severe speech and ambulation defects

description: Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene.


name: congenital hereditary endothelial dystrophy type I

description: Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.


trigeminal nerve neoplasm

description: Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure.


exposure, dental pulp

description: The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment.


name: scalp defects-postaxial polydactyly syndrome

description: Scalp defects-postaxial polydactyly syndrome is characterized by congenital scalp defects and postaxial polydactyly type A.


CD4+/CD56+ hematodermic neoplasm

description: An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement.


fungal infection of the toenail

description: A fungal infectious disease that involves the toenail.


c-P angle neurinoma

description: A schwannoma occurring in the cerebellopontine angle.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions


name: inborn disorder of pyrimidine metabolism

description: ANPM


name: sporadic fetal brain disruption sequence

description: Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.