Omsk hemorrhagic fever

description: Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis.


serpinopathy

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


autosomal dominant distal myopathy

description: Autosomal dominant form of distal myopathy.


fibular hemimelia

description: Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.


Erysipelothrix infectious disease

description: Infections with bacteria of the genus erysipelothrix.


nail anomaly

description: A epidermal appendage anomaly that involves the nail.


pure hair and nail ectodermal dysplasia

description: Pure hair and nail ectodermal dysplasia is characterized by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.


name: chronic rapidly progressive glomerulonephritis

description: Chronic form of rapidly progressive glomerulonephritis.


schizophrenia 7

description: A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32.


canine Langerhans cell histiocytosis

description: Langerhans cell histiocytosis occurring in a dog.


name: acute myeloid leukemia with CEBPA somatic mutations

description: Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).


inhalational botulism

description: Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs).


immunodeficiency 96

description: An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. The disorder results from defective cellular DNA repair.


panner disease

description: Panner's disease is an osteochondrosis of the capitellum of the humerus, characterized by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practicing sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good.


name: non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy


lichen planus pemphigoides

description: Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid.


HAND2 related congenital heart defect

description: A heart disease that is present at birth caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect.


livedoid vasculopathy

description: Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.


name: congenital anomaly of the great arteries


large artery stroke

description: Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain.


name: erythrocyte galactose epimerase deficiency


name: corpus callosum agenesis of blepharophimosis robin type


name: developmental and epileptic encephalopathy 104


fibroblastic liposarcoma

description: A liposarcoma characterized by the presence of a fibroblastic component.


pharynx neoplasm

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


name: neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia


name: oocyte/zygote/embryo maturation arrest 21


palpebral epidermal tumor

description: A neoplasm (disease) that involves the skin of eyelid.


description: A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.


tick infestation

description: Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks.


name: progressive non-infectious anterior vertebral fusion

description: Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.


name: patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

description: Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.


immunoglobulin heavy-and-light chain

description: An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.


thrombophlebitis migrans

description: A thrombophlebitis that is characterized by repeated occurrences of thrombophlebitis in different locations.


name: acute subendocardial myocardial infarction

description: Acute form of subendocardial myocardial infarction.


name: malignant germ cell tumor of corpus uteri

description: A malignant germ cell tumor that involves the body of uterus.


name: severe early-onset axonal neuropathy due to MFN2 deficiency

description: A rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.


cor biloculare

description: A congenital anatomic anomaly in which the heart has only two chambers.


thoracolaryngopelvic dysplasia

description: A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis.


translocation Down syndrome

description: Down syndrome in which the extra (partial or total) copy of chromosome 21 genetic material is attached to another chromosome.


name: acute myeloid leukemia, t(16;21)(q24;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.)


description: A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions.


eye infectious disorder

description: An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma.


name: acute disseminated encephalomyelitis with anti-MOG antibodies


name: neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis


name: neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities


pneumococcal meningitis

description: An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)


hypertensive heart disease

description: Abnormal enlargement of the heart resulting from long-standing hypertension.


name: median cleft of the upper lip and maxilla

description: Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated.


name: coronal synostosis, syndactyly and jejunal atresia


chronic gonorrhea of cervix

description: Chronic form of gonococcal cervicitis.


name: chromosome 11p13 deletion syndrome, distal


Majocchi granuloma

description: An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities.


anemia due to enzyme disorder

description: Any form of anemia that results from the absence of, or the defective action of, any enzyme.


description: Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).


description: Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).


pityriasis rosea

description: A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated.


name: olivopontocerebellar atrophy II, autosomal recessive


acrofrontofacionasal dysostosis

description: A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.


hidrocystoma

description: A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative.


description: X-linked intellectual disability, Pai type is characterized by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localized to the q28 region of the X chromosome.


tuberous sclerosis 2

description: Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).


tracheobronchitis

description: Inflammation of the tracheobronchial tree.


name: leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome


cataract 35

description: A cataract that has material basis in variation in the region 19q13.


nasolacrimal duct disorder

description: A disease or disorder that involves the nasolacrimal duct.


recombinant 8 syndrome

description: Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.


name: developmental and epileptic encephalopathy 114


name: intellectual disability syndrome due to a DYRK1A point mutation


name: facioscapulohumeral muscular dystrophy 4, digenic


name: heterotaxy, visceral, 9, autosomal, with male infertility


name: acromegaloid features, overgrowth, cleft palate, and hernia


2q31.1 microdeletion syndrome

description: 2q31.1 microdeletion syndrome is a well-defined and clinically recognizable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.


name: hypertelorism-preauricular sinus-punctual pits-deafness syndrome


distal trisomy 6q

description: Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.


radiculopathy

description: Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root.


acrocraniofacial dysostosis

description: Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.


nasopharyngitis

description: An inflammatory process that affects the nasopharynx.


name: congenital heart defects, multiple types, 1, X-linked


congenital agammaglobulinemia

description: An instance of agammaglobulinemia that is present from birth.


malignancy in giant cell tumor of bone

description: A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).


name: azygos continuation of the inferior vena cava


gingival neoplasm

description: A benign or malignant neoplasm that affects the upper or lower gingiva.


carnitine acetyltransferase deficiency

description: A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.


name: autoimmune primary adrenal insufficiency

description: Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.


name: inherited glutathione metabolism disease

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


tuberculum sellae meningioma

description: A meningioma that affects the tuberculum sellae.


name: punctate palmoplantar keratoderma type 2

description: Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.


oral leukoedema

description: A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed)


infective vaginitis

description: An infectious process affecting the vagina. Symptoms include pain and purulent discharge.


name: ectodermal dysplasia arthrogryposis diabetes mellitus


canine hepatocellular carcinoma

description: A malignant tumor arising from hepatocytes that occurs in dogs.


osteoradionecrosis

description: Necrosis of bone following radiation injury.


name: short rib-polydactyly syndrome, Majewski type


endometrial disorder

description: A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma.


nerve plexus neoplasm

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


name: spondyloepimetaphyseal dysplasia, Isidor-Toutain type


distal 7q11.23 microdeletion syndrome

description: Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).


12q15q21.1 microdeletion syndrome

description: 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.


gasserian ganglion meningioma

description: A meningioma that affects the trigeminal ganglion.


name: diabetes mellitus type 2 associated cataract

description: Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism


glaucoma-sleep apnea syndrome

description: Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).


name: global developmental delay with speech and behavioral abnormalities


rheumatic disease of mitral valve

description: A rheumatologic disorder that involves the mitral valve.


name: developmental and epileptic encephalopathy 99


complement receptor deficiency

description: A disorder with basis in disruption of a complement receptor.


name: hyperparathyroidism, primary, caused by water clear cell hyperplasia


high pressure neurological syndrome

description: A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium.


borderline leprosy

description: A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.


name: testicular sex cord-stromal benign neoplasm

description: A sex cord-stromal benign neoplasm that arises from the testis.


pentasomy

description: A chromosomal disorder consisting of the presence of three chromosomes of the same type in addition to the normal diploid number.


name: neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline


posterior cortical atrophy

description: Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities.


name: combined oxidative phosphorylation deficiency 43


name: inborn disorder of biogenic amine metabolism and transport


norovirus infectious disease

description: Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans.


sialolithiasis

description: A concretion in the salivary gland.


description: Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.


name: osteodysplasty, precocious, of Danks, Mayne, and Kozlowski


vein disorder

description: A disease involving the vein.


pelvis-shoulder dysplasia

description: Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.


Lutembacher syndrome

description: A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis.


benign lipomatous neoplasm

description: A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma.


name: febrile infection-related epilepsy syndrome

description: A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.


Emery-Dreifuss-like muscular dystrophy

description: A rare inherited muscular dystrophy characterized by the coexistence of limb-girdle weakness and early-onset diffuse joint contractures without cardiomyopathy.


name: thrombophilia, X-linked, due to factor 8 defect


dorsal spinal cord lipoma

description: A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities.


name: PRRT2-associated paroxysmal movement disorder

description: A group of rare movement and seizure disorders caused by changes (disease-causing variants or mutations) in the PRRT2 gene. They include a spectrum of specific disorders including paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizure conditions, such as paroxysmal torticollis, episodic ataxia and familial paroxysmal non-kinesigenic dyskinesia. It’s important to note that these disorders can also have different genetic causes.


Carey-Fineman-Ziter syndrome 2

description: Any Carey-Fineman-Ziter syndrome in which the cause of the disease is a mutation in the MYMX gene.


pre-descemet corneal dystrophy

description: Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision.


name: inborn disorder of cobalamin metabolism and transport


name: acute myeloid leukemia with NPM1 somatic mutations

description: Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.


name: neurodevelopmental disorder with hyperkinetic movements and dyskinesia


bladder neck cancer

description: A malignant neoplasm involving the neck of urinary bladder.


name: atypical hemolytic-uremic syndrome with H factor anomaly


penile urethral cancer

description: A urethra cancer that involves the penis.


name: indolent primary cutaneous B-cell lymphoma


name: ophthalmoplegia, familial total, with iris transillumination


color agnosia

description: An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.


name: non-specific autoimmune cerebellar ataxia with characteristic antibodies


name: tetrahydrobiopterin metabolic process disease

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


paucibacillary leprosy

description: A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response.


PSAP-related sphingolipidosis

description: A sphingolipidosis caused by variants in the PSAP gene. Clinical and biochemical features vary based on the location of variants within the gene and their molecular impact.


urinary bladder anterior wall cancer

description: Evidence of a malignant neoplasm of the anterior wall of bladder.


fixed subaortic stenosis

description: Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.


Cooks syndrome

description: Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.


epithelial predominant Wilms' tumor

description: Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes.


benign eyelid neoplasm

description: A non-metastasizing neoplasm that arises from the upper or lower eyelid.


non-distal trisomy 13q

description: Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.


aquagenic pruritus

description: Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success.


name: granulocytopenia with immunoglobulin abnormality


hemosiderosis

description: Accumulation of iron in internal organs.


X-linked cerebellar ataxia

description: X-linked form of cerebellar ataxia.


name: lissencephaly with cerebellar hypoplasia type C

description: Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.


name: hypogonadotropic hypogonadism 26 with or without anosmia


name: myopathy, congenital proximal, with minicore lesions


name: circadian rhythm sleep disorder, jet lag type

description: A circadian sleep disorder that results from traveling across time zones.


erythroleukemia

description: An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.


gastrointestinal tularemia

description: A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting.


name: partial deletion of the long arm of chromosome 14

description: Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.


ACTL6A-related BAFopathy

description: Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene.


congenital Epstein-Barr virus infection

description: Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.


name: non-classic congenital lipoid adrenal hyperplasia due to STAR deficency


acquired night blindness

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


name: autosomal recessive nonsyndromic hearing loss 14

description: An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31.


name: short-limb skeletal dysplasia with severe combined immunodeficiency

description: Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.


name: modifier, X-linked, for Neurofunctional defects


name: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of an KMT2A related fusion protein.


pupil disorder

description: A disease involving the pupil.


colorectal cancer, susceptibility to, 1

description: Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.


name: neurodevelopmental disorder with or without early-onset generalized epilepsy


name: mitochondrial complex IV deficiency, nuclear type 23


angiosarcoma of the scalp

description: Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy.


name: intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism


description: A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.


name: intellectual developmental disorder, autosomal recessive 72


name: isolated hereditary congenital facial paralysis

description: Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.


classic Kaposi sarcoma

description: A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation.


ribbing disease

description: Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described.


name: polycystic ovaries-urethral sphincter dysfunction syndrome

description: Polycystic ovaries-urethral sphincter dysfunction syndrome is characterized by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.


Y-linked disease

description: Y-linked form of disease.


name: neuromyelitis optica spectrum disorder with anti-MOG antibodies


name: multiple paragangliomas associated with polycythemia


cor triatriatum sinister

description: Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy.


argyria

description: Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine).


name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome


congenital heart malformation

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


sulfhemoglobinemia

description: A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)


name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies


corneal endothelial dystrophy

description: A corneal dystrophy (disease) that involves the corneal epithelium.


name: spondyloepiphyseal dysplasia, Reardon type

description: Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.


name: intellectual developmental disorder with hypotonia and behavioral abnormalities


name: hypoxanthine guanine phosphoribosyltransferase suppressor


intracranial arteriosclerosis

description: Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis.


name: mandibulofacial dysostosis with ptosis, autosomal dominant


prostate leiomyoma

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


name: familial congenital palsy of trochlear nerve

description: An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome.


name: microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

description: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.


name: neurodevelopmental disorder with hypotonia and dysmorphic facies


neonatal leukemia

description: Leukemia that occurs during the neonatal period.


distal trisomy 13q

description: Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.


name: oculopharyngeal myopathy with leukoencephalopathy 1


name: combined oxidative phosphorylation deficiency 50


name: acute tricyclic antidepressant poisoning

description: Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death.


name: peroxisome biogenesis disorder due to PEX26 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.


leukemia, acute, X-linked

description: X-linked form of acute leukemia


name: adult-onset distal myopathy due to VCP mutation

description: Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.


name: congenital disorder of glycosylation type I

description: A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.


secondary trimethylaminuria

description: A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine.


North Carolina macular dystrophy

description: North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.


9q21.13 microdeletion syndrome

description: A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus.


fibrosarcomatous osteosarcoma

description: A conventional osteosarcoma characterized by the presence of spindle shaped cells.


Langerhans cell sarcoma

description: A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001)


pigmented spindle cell nevus

description: A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma.


pyruvate metabolism disorder

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


congenital pulmonary lymphangiectasia

description: Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation.


Say-Barber-Miller syndrome

description: Say-Barber-Miller syndrome is characterized by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation.


name: congenital disorder of glycosylation, type Iw, autosomal dominant


screw worm infectious disease

description: Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A.


name: radioulnar synostosis-developmental delay-hypotonia syndrome

description: Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).


autosomal anomaly

description: Chromosomal disorder in which the chromosomal anomaly involves an autosome.


name: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome


respiratory system benign neoplasm

description: A benign neoplasm that involves the respiratory system.


split hand-foot malformation 2

description: A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.


name: neurodevelopmental disorder with seizures and gingival overgrowth


name: developmental and epileptic encephalopathy, 71


name: Carabelli anomaly of maxillary molar teeth


superficial Fibromatosis

description: A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern.


Morvan syndrome

description: Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.


osteosclerotic plasma cell myeloma

description: A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes.


name: Angelman syndrome due to maternal 15q11q13 deletion


disorder of polyamine metabolism

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


name: ciliary discoordination due to random ciliary orientation


description: A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003


nocturnal asthma

description: A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways.


Ross river fever

description: A disease caused by infection with Ross River virus.


name: intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies


childhood intracortical osteosarcoma

description: A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis.


name: mitochondrial complex 2 deficiency, nuclear type 2


description: BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.


description: Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.


malignant ovarian cyst

description: A cystic cancerous tumor arising from the ovary.


name: mitochondrial complex 1 deficiency, nuclear type 37


name: mitochondrial complex IV deficiency, nuclear type 22


primary antiphospholipid syndrome

description: An antiphospholipid syndrome that occurs as an isolated disorder.


acute myeloid leukemia, der12p

description: Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).)


foix chavany Marie syndrome

description: Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.


TPM4-related platelet disorder

description: A platelet disorder in which the cause of the disease is a variant in the TPM4 gene.


superficial mycosis

description: A mycosis that is limited to the stratum corneum and essentially elicits no inflammation.


name: encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency


name: agenesis of the corpus callosum and congenital lymphedema


name: maternally-inherited progressive external ophthalmoplegia


tactile agnosia

description: An agnosia that is a loss of the ability to recognize or identify objects by touch alone.


name: neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities


tinea favosa

description: A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles.


name: acquired angioedema with C1Inh deficiency


amusia

description: An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.


paraneoplastic hematological syndrome

description: Paraneoplastic syndrome that involves the hematopoietic system.


name: creases, infra-auricular cutaneous, with tall stature and advanced bone age


name: ataxia with myoclonic epilepsy and presenile dementia


syphilitic aortitis

description: Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm.


name: dyskeratosis congenita, autosomal dominant 2

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.


distal trisomy 20q

description: Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.


Senior-Boichis syndrome

description: Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.


neonatal iodine exposure

description: A rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates.


name: neurodevelopmental disorder with neuromuscular and skeletal abnormalities


name: immunodeficiency 94 with autoinflammation and dysmorphic facies


name: paroxysmal familial ventricular fibrillation

description: A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.


NYX-related retinopathy

description: An X-linked retinopathy caused by variants in the NYX gene.


name: SMARCC1-associated developmental dysgenesis syndrome

description: Variants in SMARCC1 cause a novel human syndrome characterized by developmental delay, cerebral ventriculomegaly and aqueductal stenosis, and other associated structural brain and cardiac defects.


pyrimidine metabolism disease

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


name: disorder of lysosomal-related organelles


aortic arch interruption

description: Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.


name: autosomal semi-dominant severe lipodystrophic laminopathy


vascular bone neoplasm

description: A benign, intermediate, or malignant vascular neoplasm that arises from the bone.


name: congenital disorder of glycosylation, type ICC


anti-HLA hyperimmunization

description: Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.


name: Charcot-Marie-Tooth disease, dominant intermediate G


myoclonus, familial, 2

description: Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13.


clivus chordoma

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


sporadic amyotrophic lateral sclerosis

description: Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.


autosomal dominant titinopathy

description: Autosomal dominant form of TTN-related myopathy.


fibroepithelial polyp

description: A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp.


autosomal recessive spastic ataxia

description: Autosomal recessive form of spastic ataxia.


name: electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon


name: blepharophimosis-ptosis-epicanthus inversus syndrome plus


Murray valley encephalitis

description: An disease caused by infection with Murray Valley encephalitis virus.


paramedian nasal cleft

description: Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.


EYS-related retinopathy

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


name: ichthyosis, X-linked, without steroid sulfatase deficiency


fournier gangrene

description: An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease.


Alzheimer disease 10

description: An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.


name: benign infantile focal epilepsy with midline spikes and wave during sleep

description: Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region.


pili bifurcati

description: Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle.


name: peroxisome biogenesis disorder due to PEX14 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.


name: maternal uniparental disomy of chromosome 14

description: Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).


name: vas deferens, congenital unilateral aplasia of


name: congenital absence of both forearm and hand, unilateral

description: Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved.


ulnar neuropathy

description: Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)


glossopharyngeal nerve neoplasm

description: A neoplasm involving a glossopharyngeal nerve.


immunodeficiency, common variable, 10

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene.


ring chromosome 2

description: Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).


angioid streaks of choroid

description: A angioid streaks that involves the optic choroid.


tertiary syphilis

description: A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis).


benign neoplasm of cerebrum

description: A benign neoplasm that involves the telencephalon.


isolated optic nerve aplasia

description: A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.


foramen magnum meningioma

description: A meningioma that affects the foramen magnum.


name: Leber hereditary optic neuropathy, autosomal recessive


pregnancy associated osteoporosis

description: A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation.


name: peroxisome biogenesis disorder due to PEX5 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene.


name: neurodevelopmental disorder with speech impairment and with or without seizures


systolic heart failure

description: Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying.


supraglottis neoplasm

description: A benign or malignant neoplasm that affects the supraglottic area of the larynx.


ovarian ectopic pregnancy

description: An abnormal pregnancy in which the conception is implanted on the ovary.


Rotavirus infection

description: Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice.


neonatal sepsis

description: Bacterial infection in the bloodstream of newborn infants younger than 28 days old.


familial amyotrophic lateral sclerosis

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


name: hereditary progressive mucinous histiocytosis

description: Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.


name: spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis


name: taurodontia-absent teeth-sparse hair syndrome

description: This syndrome is characterized by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.


urinary bladder tuberculosis

description: A tuberculosis that involves the urinary bladder.


congenital pseudoarthrosis of the tibia

description: A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1.


lingual goiter

description: Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms.


Coronaviridae infectious disease

description: Virus diseases caused by coronaviridae.


GATA1-Related X-Linked Cytopenia

description: X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.


name: partial trisomy of the long arm of chromosome 5

description: Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.


name: atrial septal defect, secundum, with various cardiac and Noncardiac defects


fungal keratitis

description: Keratitis caused by fungi.


headache disorder

description: Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)


name: cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2


name: xeroderma pigmentosum, type G/Cockayne syndrome


hereditary epidermal appendage anomaly

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


description: X-linked intellectual disability-ataxia-apraxia syndrome is characterized by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers.


name: juvenile idiopathic inflammatory myopathy


name: hemophagocytic lymphohistiocytosis due to RhoG deficiency

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene.


name: hypophosphatemic rickets and hyperparathyroidism


name: mitochondrial complex 1 deficiency, nuclear type 31


name: microcephaly, facial abnormalities, micromelia, and intellectual disability


name: mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy


anaplastic cancer

description: A malignant neoplasm characterized by the presence of poorly differentiated, often large neoplastic cells with bizarre morphologic characteristics, associated with high mitotic activity and necrotic changes.


name: retinitis pigmentosa inversa with deafness


name: leukodystrophy, hypomyelinating, 19, transient infantile


name: intellectual developmental disorder, autosomal recessive 78


bone angiosarcoma

description: A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation.


vestibulocochlear nerve neoplasm

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


uterine inversion

description: A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage.


name: anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome


name: mitochondrial DNA depletion syndrome, encephalomyopathic form

description: Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.


sensory ataxia

description: Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction.


MECOM-associated syndrome

description: Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss.


name: cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss


prepuce cancer

description: A malignant neoplasm involving the prepuce.


name: developmental and epileptic encephalopathy, 68


sporadic Creutzfeld Jacob disease

description: Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years.


late-adult onset retinitis pigmentosa

description: A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life.


non-herpetic acute limbic encephalitis

description: Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders.


tubal pregnancy

description: An abnormal pregnancy in which the conception is implanted in the fallopian tube.


name: corpus callosum dysgenesis X-linked recessive


immunodeficiency 105

description: Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene.


name: mitochondrial DNA depletion syndrome 20 (mngie type)


description: Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene.


neurofibromatosis

description: A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.


description: An embryonal rhabdomyosarcoma located in the parameningeal region.


photosensitive occipital lobe epilepsy

description: A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty.


miliaria crystallina

description: A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum.


name: myoclonic epilepsy in non-progressive encephalopathies

description: A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances.


name: breast implant-associated anaplastic large cell lymphoma


fungal infectious disease

description: An infection caused by a fungus.


name: imprinting gene related to retinoblastoma


chronic mast cell leukemia

description: A rare form of mast cell leukemia characterized by the presence of at least 20% mast cells in bone marrow aspirate smears but often mature mast cell morphology, low proliferation rate, and absence of organ damage and C findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption). The disease course is less aggressive than in the acute form, although patients may later progress.


distal trisomy 3p

description: Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.


lower lip fistula

description: A cysts and fistulae of the face and oral cavity that involves the lower lip.


folinic acid-responsive seizures

description: Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.


testicular leukemia

description: A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03


name: hypothyroidism, congenital, nongoitrous, 8


name: erythroleukemia, familial, susceptibility to

description: An inherited susceptibility or predisposition to developing acute erythroleukemia in which the cause of the disease is a variation in the ERBB3 gene.


name: central hypoventilation syndrome, congenital, 2, and autonomic dysfunction


erythema infectiosum

description: A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern.


name: inborn disorder of ornithine, proline and hydroxyproline metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of ornithine, proline and/or hydroxyproline.


name: univentricular heart with single atrio-ventricular valve


autosomal dominant disease

description: Autosomal dominant form of disease.


name: prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness


name: cerebellar ataxia and hypergonadotropic hypogonadism


AREDYLD syndrome

description: AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.


name: autoinflammatory syndrome, familial, X-linked, Behcet-like 2


Young syndrome

description: Young syndrome is characterized by the association of obstructive azoospermia with recurrent sinobronchial infections.


name: autosomal recessive spastic paraplegia type 66


supratentorial meningioma

description: A meningioma that affects the supratentorial brain.


granulomatous mastitis

description: A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives.


name: congenital disorder of glycosylation, type IIy


Japanese encephalitis

description: A disease due to a virus transmitted by an arthropod).


melanocytic skin neoplasm

description: A melanocytic neoplasm that involves the zone of skin.


disorder of orbital region

description: A disease that involves the orbital region.


bacterial exanthem

description: A bacteria-induced exanthem


mycotoxicosis

description: Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin).


name: chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation


fetal minoxidil syndrome

description: Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.


name: congenital cerebellar ataxia due to RNU12 mutation

description: A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.


refractory hematologic cancer

description: A hematologic malignancy that is resistant to treatment.


multifocal osteogenic sarcoma

description: A primary bone osteosarcoma affecting multiple bone sites.


facial dermoid cyst

description: Facial 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 firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area.


trypanosomiasis

description: Infection with protozoa of the genus trypanosoma.


RLBP1-related retinopathy

description: A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina.


name: dextrocardia with unusual facies and microphthalmia


barbiturate abuse

description: A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences.


description: An electroclinical syndrome with onset in adolescence and adulthood.


autoimmune urticaria

description: An autoimmune form of urticaria (disease).


aspergillus niger infection

description: A infectious disease involving the Aspergillus niger.


name: neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures


name: mesomelic dwarfism-cleft palate-camptodactyly syndrome

description: Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.


name: developmental and epileptic encephalopathy, 74


malignant Leydig cell tumor

description: A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.


name: hypertelorism, microtia, facial clefting syndrome

description: Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.


name: digestive system disorder, non-human animal

description: Digestive system disorder that occurs in non-human animals.


actinic lichen planus

description: Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions.


name: neurodevelopmental disorder with impaired language and ataxia and with or without seizures


inflammatory liposarcoma

description: A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates.


abdominal tuberculosis

description: An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas.


hematohidrosis

description: Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting.


hereditary sebaceous gland anomaly

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


disorder of visual system

description: A disease that involves the visual system.


congenital pericardium anomaly

description: Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst).


name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2


anosmia, isolated congenital, X-linked

description: X-linked form of anosmia, isolated congenital.


name: developmental and epileptic encephalopathy 113


name: Ehlers-Danlos syndrome, fibronectinemic type

description: Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive.


medulloblastoma non-WNT/non-SHH

description: A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent.


name: lung agenesis-heart defect-thumb anomalies syndrome

description: Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.


name: epidermolysis bullosa simplex 2A, generalized severe


name: ALG14-congenital disorder of glycosylation

description: Deficiency in the ALG14 enzyme results in incomplete assembly of the lipid linked oligosaccharide (LLO), leading to insufficient N-glycosylation of glycoproteins.


cancer-associated retinopathy

description: Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins.


wound botulism

description: Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum.


name: thanatophoric dysplasia, Glasgow variant


name: autosomal recessive nonsyndromic hearing loss 17

description: An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31.


coccygodynia

description: Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury.


name: nemaline myopathy 5C, autosomal dominant


Charlie M syndrome

description: Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.


pityriasis lichenoides

description: A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica).


milker's nodule

description: Virus diseases caused by the poxviridae.


congenital primary megaureter

description: An idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing.


glottis cancer

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


acquired purpura fulminans

description: A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF.


name: idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance


clonorchiasis

description: Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed)


name: Charcot-Marie-Tooth disease, Guadalajara neuronal type


name: partial duplication of the short arm of chromosome 7

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


name: exostoses-anetodermia-brachydactyly type E syndrome

description: Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.


ureterolithiasis

description: The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins.


name: intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency


viral eye infection

description: Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.


hydroa vacciniforme-like lymphoma

description: A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin.


14q32 duplication syndrome

description: 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.


radial neuropathy

description: Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus.


name: osteosclerotic chondrodysplasia, lethal, with intracellular inclusions


name: inherited hematologic cancer-predisposing syndrome


name: alacrima, congenital, autosomal recessive


name: inclusion body myopathy and brain white matter abnormalities


female genital tuberculosis

description: Mycobacterium infections of the female reproductive tract (genitalia, female).


name: neurodevelopmental disorder with language delay and seizures


gingival fibroepithelial polyp

description: A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma.


vitamin deficiency disorder

description: A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.


myeloschisis

description: A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation.


female urethral cancer

description: A cancer that involves the female urethra.


name: amegakaryocytic thrombocytopenia, congenital, 2