Radio-Tartaglia syndrome

description: A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.


lethal chondrodysplasia, Moerman type

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


name: infertility due to extratesticular cause


name: spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits


posterior urethra cancer

description: A malignant neoplasm that affects the portion of the urethra that is close to the bladder.


name: intellectual developmental disorder, x-linked, syndromic 37


name: partial duplication of the short arm of chromosome 16

description: Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. 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 16p 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: epilepsy, partial, with pericentral spikes


epidermal disease

description: A skin disease that involves the epidermis.


name: autosomal dominant cerebellar ataxia type IV


name: cleft palate, proliferative retinopathy, and developmental delay


name: AIDS-related primary central nervous system lymphoma

description: A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients.


granulomatous prostatitis

description: An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue.


sex cord-stromal benign neoplasm

description: A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts.


canine neoplasm

description: A neoplasm that occurs in dogs.


acute myeloid leukemia, t(1;22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.)


description: X-linked neurodegenerative syndrome, Bertini type is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.


name: congenital retinal arteriovenous communication


extramedullary plasmacytoma

description: A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients.


description: X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.


name: inherited focal segmental glomerulosclerosis

description: An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual.


name: qualitative or quantitative defects of desmin


name: laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy


acanthocephaliasis

description: An disease or disorder caused by infection with Acanthocephala.


hemorrhagic fever

description: An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis


name: hereditary sensory and autonomic neuropathy type 1B

description: Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).


fixed pigmented erythema

description: Round areas of red-purple reaction in the skin that result after drug exposure; these recur in the same location when the medication is readministered.


name: benign epithelial tumor of salivary glands


postaxial tetramelic oligodactyly

description: Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.


name: partial duplication of the short arm of chromosome 4


small cell osteogenic sarcoma

description: An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.


duplication of urethra

description: Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating.


name: neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies


nephrogenic adenoma of urinary bladder

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


lymphangiomyoma

description: A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum.


ureteritis

description: An acute or chronic inflammatory process affecting the ureter.


genital herpes

description: Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus.


name: distichiasis with congenital anomalies of the heart and peripheral vasculature


name: partial duplication of the long arm of chromosome 1


Böök syndrome

description: Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.


infant botulism

description: A botulism that occurs between 28 days to one year of life..


name: autoimmune disease of ear, nose and throat

description: An autoimmune form of otorhinolaryngologic disease.


name: lower urinary tract obstruction, congenital


inherited reflex epilepsy

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


multiple personality disorder

description: A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition.


carbon monoxide poisoning

description: A poisoning that is caused by exposure to carbon monoxide.


name: hyperlipoproteinemia, type II, and deafness


finger agnosia

description: An agnosia characterized by an inability to distinguish, name, or recognize the fingers


name: congenital accessory mitral valve tissue

description: Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.


name: mitochondrial complex 1 deficiency, nuclear type 21


inherited thrombocytopenia

description: An instance of thrombocytopenia that is inherited.


name: partial circumpapillary choroid dystrophy


name: hidrotic ectodermal dysplasia, Christianson-Fourie type

description: Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.


Bunyaviridae infectious disease

description: Virus diseases caused by the bunyaviridae.


chromosome 2p16.1-p15 deletion syndrome

description: 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


name: acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

description: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).


cryptogenic late-onset epileptic spasms

description: Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that occur in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.


paraneoplastic rheumatic syndrome

description: Paraneoplastic syndrome that involves the joints, bones, muscles, and/or connective tissue.


totally drug-resistant tuberculosis

description: A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin).


lipofibromatosis-like neural tumor

description: A connective tissue cancer that has material basis in LMNA-NTRK1 gene fusion.


Barmah forest virus disease

description: A disease caused by infection with Barmah Forest virus.


name: isolated congenitally uncorrected transposition of the great arteries


trigonitis

description: Inflammation of the trigone of the urinary bladder.


osteoarthritis, spine

description: A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte).


Alzheimer disease 12

description: An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.


name: autosomal recessive nonsyndromic hearing loss 40

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.


vulva sarcoma

description: A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma.


name: spondylocostal dysostosis-anal and genitourinary malformations syndrome

description: Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterized by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.


episodic ataxia type 3

description: Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia.


viral exanthem

description: A virus-induced exanthem


paranoid personality disorder

description: A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted.


skull base chordoma

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


startle epilepsy

description: Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.


name: neurodevelopmental disorder with eye movement abnormalities and ataxia


neuroaspergillosis

description: Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3)


Rowell syndrome

description: A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities.


name: intellectual disability, autosomal recessive 11


Marburg acute multiple sclerosis

description: Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients.


name: microcephaly 25, primary, autosomal recessive


gastrointestinal anthrax

description: An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite.


name: peroxisome biogenesis disorder due to PEX13 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene.


name: partial trisomy/tetrasomy of chromosome 18

description: A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18.


PLA2G6-associated neurodegeneration

description: Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene.


malignant atrophic papulosis

description: Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.


name: neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies


description: Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


name: nasopharyngeal carcinoma, susceptibility to, 3

description: Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene.


myopathy of extraocular muscle

description: A myopathy that involves the extra-ocular muscle.


sacral nerve plexus disorder

description: A disease that involves the sacral nerve plexus.


digitalis poisoning

description: Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances.


name: Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

description: A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene.


disseminated candidiasis

description: Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes.


Al-Gazali syndrome

description: An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.


superior vena cava angiosarcoma

description: A malignant vascular neoplasm arising from the superior vena cava.


chronic polyneuropathy

description: Polyneuropathy that is persistent or long-standing in nature.


ATP1A3-associated neurological disorder

description: Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3.


name: juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome


name: pituitary dwarfism with large sella turcica


ectomesenchymoma

description: An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component.


name: autosomal dominant nonsyndromic hearing loss 33

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.


Balint syndrome

description: Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time.


name: syndromic X-linked intellectual disability 17

description: Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.


posterior amorphous corneal dystrophy

description: Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision.


name: osteochondritis of tarsal/metatarsal bone

description: A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.


ossifying fibromyxoid tumor

description: A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients.


name: neurodegeneration with ataxia and late-onset optic atrophy


myopathy, non-human animal

description: Myopathy that occurs in non-human animals.


ulceroglandular tularemia

description: A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion.


name: mitochondrial complex 4 deficiency, nuclear type 21


description: Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterized by circular, well-circumscribed patches of erythematous depressed skin.


name: spastic paraplegia, ataxia, and intellectual disability


Kikuchi-Fujimoto disease

description: Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat.


uvulitis

description: Inflammation of the uvula.


name: medium/large size posterior uveal melanoma

description: Ciliary body and choroid melanoma measuring between 2.5 mm and 10 mm in height and 16 mm or less in basal diameter (medium-sized) or more than 10 mm in height or more than 2 mm in height and more than 16 mm in basal diameter or more than 8 mm in height with optic nerve involvement (large-sized). (Collaborative Ocular Melanoma Study)


name: mitochondrial complex 1 deficiency, nuclear type 2


name: developmental and epileptic encephalopathy 115


Marinesco-Sjogren-like syndrome

description: A disease with similar features to Marinesco-Sjogren syndrome.


sarcoma of cervix uteri

description: A sarcoma involving a uterine cervix.


antisynthetase syndrome

description: Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS).


name: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome


adult brain stem neoplasm

description: A brainstem neoplasm that occurs in an adult.


name: human T-lymphotropic virus 1 infectious disease

description: A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder.


smoldering plasma cell myeloma

description: A plasma cell myeloma lacking clinical manifestations and organ impairment.


endometrial stromal nodule

description: A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia.


name: microcephaly, corpus callosum dysgenesis, and cleft lip/palate


Imerslund-Grasbeck syndrome type 2

description: An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF).


name: neuropathy, congenital, with arthrogryposis multiplex


name: chondrocalcinosis due to apatite crystal deposition


self-healing papular mucinosis

description: Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness.


mature cataract

description: A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity.


aplasia cutis congenita dominant

description: Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance.


testicular pure germ cell tumor

description: A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor.


skeletal ligament disorder

description: A disease or disorder that involves the skeletal ligament.


chronic congestive splenomegaly

description: Chronic form of congestive splenomegaly.


name: congenital generalized hypercontractile muscle stiffness syndrome


name: spondyloepimetaphyseal dysplasia, Handigodu type

description: A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.


disorder of magnesium transport

description: An inherited metabolic disease that is has its basis in the disruption of magnesium ion transport.


name: chondrodysplasia punctata, Toriello type

description: Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.


integumentary system benign neoplasm

description: A benign neoplasm that involves the integumental system.


name: hereditary motor and sensory neuropathy with acrodystrophy

description: A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.


name: muscular dystrophy, limb-girdle, autosomal dominant

description: Autosomal dominant form of limb-girdle muscular dystrophy.


ophthalmia neonatorum

description: Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms.


oromandibular-limb hypogenesis syndrome

description: Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).


craniosynostosis, Herrmann-Opitz type

description: Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.


name: cancer or benign tumor, non-human animal

description: Cancer or benign tumor that occurs in non-human animals.


larynx liposarcoma

description: A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement.


name: neurodevelopmental disorder with structural brain anomalies and dysmorphic facies


name: palmoplantar keratoderma, punctate type ib


Bonnemann-Meinecke-Reich syndrome

description: Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.


nabothian cyst

description: A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium.


benign choroid plexus neoplasm

description: A neoplasm that arises from the choroid plexus and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


prostatic urethral cancer

description: A male urethral cancer that involves the prostatic urethra.


posterolateral myocardial infarction

description: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart.


name: cutis verticis gyrata and intellectual disability


name: punctate palmoplantar keratoderma type III

description: Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later


bulbospinal polio

description: A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.


primary viral infectious disease

description: The initial viral infectious disase that causes illness.


distal trisomy 16q

description: Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.


name: central centrifugal cicatricial alopecia


torovirus infectious disease

description: Infections with viruses of the genus torovirus, family coronaviridae.


lentivirus infection

description: Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection.


renal hypoplasia, unilateral

description: Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present.


name: congenital complete agenesis of pericardium

description: Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.


exostosis, Dupuytren subungual

description: A benign tumor that affects the distal phalanx, most often the great toe. Grossly it consists of a cartilage cap and a bony stalk. Microscopically it is characterized by an osteochondromatous proliferation with a gradual transition of a peripheral spindle-cell proliferation to hyaline cartilage to trabecular bone. Pain and swelling are present. Simple resection is usually curative.


name: autoimmune encephalopathy with parasomnia and obstructive sleep apnea

description: Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.


Lisch epithelial corneal dystrophy

description: Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision.


name: cellular phase chronic idiopathic myelofibrosis

description: Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow.


C1q nephropathy

description: C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome.


cancer of long bone of upper limb

description: A cancer that involves the upper limb long bone.


name: hantavirus hemorrhagic fever with renal syndrome

description: A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision.


name: congenital neuronal ceroid lipofuscinosis

description: Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.


malignant tenosynovial giant cell tumor

description: An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.


name: acute myeloid leukemia, t(16;16)(p13.1;q22)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.)


name: vertebral anomalies and variable endocrine and T-cell dysfunction


name: autosomal dominant optic atrophy and peripheral neuropathy

description: Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.


paroxysmal Hemicrania

description: Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy.


name: tooth agenesis, selective, with orofacial cleft


description: Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.


name: mitochondrial trifunctional protein deficiency 2


name: autosomal recessive combined immunodeficiency due to complete IL6ST deficiency


undifferentiated pleomorphic sarcoma

description: An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.


retinitis pigmentosa 6

description: A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.


name: dystrophies primarily involving the retinal pigment epithelium


spleen neoplasm

description: A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma.


Upington disease

description: Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.


name: mandibuloacral dysplasia progeroid syndrome


name: XYLT1-congenital disorder of glycosylation


description: Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).


description: Microcornea-corectopia-macular hypoplasia syndrome is characterized by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.


autoimmune optic neuritis

description: An autoimmune form of optic neuritis.


cardiovascular organ benign neoplasm

description: A benign neoplasm that involves the cardiovascular system.


Stern-Lubinsky-Durrie syndrome

description: Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.


name: spastic paraplegia 70, autosomal recessive


name: angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert


hereditary glaucoma

description: Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.


name: brain abnormalities, neurodegeneration, and dysosteosclerosis


aleukemic leukemia cutis

description: Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process.


name: skeletal dysplasia-intellectual disability syndrome

description: Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.


internal hemorrhoid

description: A hemorrhoid which originates above the dentate line.


chondrogenic neoplasm

description: A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma.


reflex epilepsy

description: Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy).


name: inflammatory bowel disease-recurrent sinopulmonary infections syndrome


name: intellectual developmental disorder, autosomal dominant 66


idiopathic recurrent stupor

description: Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes.


infection caused by Bifidobacterium

description: A disease caused by infection with Bifidobacterium.


Tietze syndrome

description: Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease.


teratocarcinoma

description: A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component.


hereditary spastic paraplegia 24

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.


3q27.3 microdeletion syndrome

description: A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.


BBS10-related ciliopathy

description: Any ciliopathy caused by variants in the BBS10 gene.


name: chromosome 1p36 deletion syndrome, proximal


anosognosia

description: An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.


male orgasm disorder

description: Persistent delay or absence in orgasm not accounted for by a medical reason.


name: Charcot-Marie-Tooth disease, axonal, type 2EE


name: cardiomyopathy hypogonadism metabolic anomalies


Maffucci syndrome

description: Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.


transient neonatal myasthenia gravis

description: Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies.


name: TH-deficient progressive infantile encephalopathy

description: A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias.


aquagenic palmoplantar keratoderma

description: Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis.


scrub typhus

description: Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious.


name: hypokalemic alkalosis, familial, with specific renal tubulopathy


name: infection-related hemolytic uremic syndrome


name: congenital anomaly of the mitral subvalvular apparatus


mismatch repair cancer syndrome 1

description: A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1.


ABCA4-related retinopathy

description: An inherited retinopathy caused by bi-allelic variants in the ABCA4 gene.


mature teratoma

description: A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues.


subendocardial myocardial infarction

description: An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart.


description: A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.


female reproductive system disorder

description: A disease involving the female reproductive system.


intracranial berry aneurysm

description: An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.


name: Mayer-Rokitansky-Küster-Hauser syndrome type 2

description: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.


name: carbon monoxide-induced delayed encephalopathy

description: Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event


adactylia, unilateral

description: A rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.


name: mucopolysaccharidosis type 6, rapidly progressing


laryngocele

description: A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck.


name: growth restriction, hypoplastic kidneys, alopecia, and distinctive facies


linear focal dermal elastosis

description: Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis.


name: developmental and epileptic encephalopathy 112


name: disorder of metabolite absorption and transport


name: aortic arch interruption, facial palsy, and retinal coloboma


enuresis, nocturnal, 1

description: Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder.


description: A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets.


canine mastocytoma

description: A tumor composed of mast cells that occurs in dogs.


name: immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection


name: combined oxidative phosphorylation deficiency 52


prostate cancer, dog

description: Prostate cancer that occurs in dog.


name: low density lipoprotein, variation in molecular weight of


name: mixed phenotype acute leukemia,T/myeloid

description: An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.


post-thrombotic syndrome

description: A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing.


familial benign copper deficiency

description: Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.


name: recessive aplasia cutis congenita of limbs

description: Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.


name: defect in conserved oligomeric Golgi complex


vaginal fibroepithelial polyp

description: A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells.


name: intellectual disability, autosomal recessive 10


Fusobacteriaceae infectious disease

description: Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria.


bacterial hemorrhagic fever

description: A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus.


hyperplastic polyp

description: A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000).


oculotrichodysplasia

description: Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.


name: epithelioid inflammatory myofibroblastic sarcoma


congenital enterovirus infection

description: Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn.


neonatal glycine encephalopathy

description: Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.


juvenile myasthenia gravis

description: Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age.


inborn disorder of energy metabolism

description: An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.


adrenomyodystrophy

description: Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.


name: partial duplication of the short arm of chromosome 3

description: Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. 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 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person.


chromosome 12 disorder

description: Chromosomal disorder in which chromosome 12 is affected.


absence of innominate vein

description: Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.


acute bilirubin encephalopathy

description: A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.


name: CELSR1-related late-onset primary lymphedema

description: A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.


name: inborn disorder of amino acid and other organic acid metabolism


leukoplakia of vagina

description: Leukoplakia of the vagina.


dacryoadenitis

description: Inflammation and enlargement of the lacrimal gland.


elastofibroma dorsi

description: A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules.


eyelid melanoma

description: A melanoma that arises from the upper or lower eyelid.


name: congenital pulmonary airway malformation type 0


synovium disorder

description: A disease or disorder that involves the layer of synovial tissue.


dermis tumor

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


name: dyskeratosis congenita, autosomal dominant 3

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.


name: hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2


occipital lobe neoplasm

description: A neoplasm involving a occipital lobe.


acute retinal necrosis syndrome

description: Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome.


name: central nervous system hematopoietic neoplasm

description: A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias.


vulvar syringoma

description: A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis.


name: complete atrioventricular canal-left heart obstruction syndrome


name: immunodeficiency 78 with autoimmunity and developmental delay


cervical Wilms tumor

description: An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney.


sleep disorder

description: A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep.


name: pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome


name: autoinflammation, immune dysregulation, and eosinophilia


secondary syringomyelia

description: Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumors. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings.


benign essential hypertension

description: A condition of mild to moderate high blood pressure that has no identifiable cause.


fascioliasis

description: A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction.


name: short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis


name: mitochondrial complex 1 deficiency, nuclear type 29


poorly differentiated chordoma

description: A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm.


name: combined oxidative phosphorylation deficiency 57


cerebellopontine angle tumor

description: A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma.


IMPG2-related dominant retinopathy

description: Any retinopathy caused by a heterozygous variant in the IMPG2 gene.


uterine ligament cancer

description: A primary or metastatic malignant neoplasm that affects the uterine ligament.


bejel

description: A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum.


name: lissencephaly with cerebellar hypoplasia type F

description: Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.


familial tumoral calcinosis

description: Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.


name: neuropathy, hereditary motor and sensory, type VIc, with optic atrophy


name: metaphyseal dysplasia, Braun-Tinschert type

description: Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.


vibrio vulnificus infectious disease

description: An disease or disorder caused by infection with Vibrio vulnificus.


mild hyperphenylalaninemia

description: Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA.


name: neurodegeneration, childhood-onset, with cerebellar atrophy


chronic endometritis

description: A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding.


bubonic plague

description: A plague in which the bacteria have infected the lymphatic system.


name: spastic paraplegia, optic atrophy, and dementia


name: anonychia-onychodystrophy with brachydactyly type b and ectrodactyly


bartonellosis

description: An infectious disease produced by bacteria of the genus Bartonella.


coronary arterial fistulas

description: Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel.


hemicrania continua

description: Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied.


description: A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion.


psychogenic polydipsia

description: A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders.


phytanoyl-CoA hydroxylase deficiency

description: Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.


central nervous system lipoma

description: A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels.


name: spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness


alopecia, congenital

description: A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common.


name: microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1


name: peroxisome biogenesis disorder due to PEX10 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.


acquired porencephaly

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


visceral calciphylaxis

description: Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation.


cholinergic urticaria

description: A type of physical urticarias (or hives) that appears when a person is sweating.


name: hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

description: Hereditary inclusion body myopathy type 3 is characterized by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive.


prolymphocytic leukemia

description: A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen.


benign neoplasm of nasopharynx

description: A benign neoplasm that involves the nasopharynx.


cercarial dermatitis

description: An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin.


ST-elevation myocardial infarction

description: A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG.


congenital megacalycosis

description: Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection.


name: primary central precocious puberty in male


name: mental and growth retardation with amblyopia


acrocoxomesomelic dysplasia

description: A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine.


single-organ polyarteritis nodosa

description: Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common.


name: desmin-related myopathy with Mallory body-like inclusions


acquired central diabetes insipidus

description: Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.


name: spastic paraplegia with myoclonic epilepsy


black widow spider envenomation

description: Local and/or systemic toxicity resulting from a bite from a black widow spider (Latrodectus species).


name: congenital stenosis of the inferior vena cava


name: cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

description: A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.


adult-onset myasthenia gravis

description: Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma.


autoimmune glomerulonephritis

description: An autoimmune form of glomerulonephritis (disease).


secondary syphilis

description: The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage.


Charcot-Marie-Tooth disease type 2B5

description: A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.


name: tibia, absence of, with congenital deafness


name: hyperlysinemia due to defect in lysine transport into mitochondria


Madras motor neuron disease

description: Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss.


benign Leydig cell tumor

description: A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion.


localized lipodystrophy

description: Localised lipodystrophies are characterized by loss of subcutaneous tissue from small regions of the body.


adrenal medullary hyperplasia

description: A hyperplasia that involves the adrenal medulla.


disorder of copper metabolism

description: An inherited metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis.


hairy tongue

description: A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black.


hereditary spastic paraplegia 14

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28.


central nervous system leukemia

description: Leukemia infiltrating the central nervous system structures.


IgG4-related mesenteritis

description: Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate).


name: epidermolysis bullosa, junctional 3A, intermediate


name: epithelial basolateral chloride conductance regulator, rabbit, homolog of


free sialic acid storage disease

description: Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD).


name: autoinflammation with episodic fever and lymphadenopathy


name: sebaceous gland hyperplasia, familial presenile


true myeloschisis

description: A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation).


name: pulmonary hypertension owing to lung disease and/or hypoxia


name: neuropathy, hereditary sensory and autonomic, type IId


ureteral disorder

description: A non-neoplastic or neoplastic disorder affecting the ureter.


name: bacterial infectious disease, non-human animal

description: Bacterial infectious disease that occurs in non-human animals.


name: dyskeratosis congenita, autosomal dominant 4


name: myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy


diphtheria

description: A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.


name: combined oxidative phosphorylation deficiency 53

description: An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.


anterior nasal diphtheria

description: Infection of the anterior nasal structures by Corynebacterium diphtheriae.


monochloroacetic acid poisoning

description: A poisoning that is caused by exposure to monochloroacetic acid.


fibrosclerosis, multifocal

description: A rare syndrome of unknown etiology characterized by progressive fibrosis involving multiple organ sites.


pulp erosion

description: A tooth erosion, non-bacterial that involves the dental pulp.


name: epilepsy, early-onset, with or without developmental delay


name: spastic paraplegia 82, autosomal recessive

description: Any hereditary spastic paraplegia in which the cause of the disease is an autosomal recessive mutation in the PCYT2 gene.


acute myeloid leukemia, Monosomy 5

description: Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.)


benign neoplasm of cerebellum

description: A benign neoplasm that involves the cerebellum.


onychocytic matricoma

description: Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision.


name: congenitally short costocoracoid ligament

description: Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour.


endotheliitis

description: An inflammatory disease involving a pathogenic inflammatory response in the endothelium.


name: central retinal vein occlusion with macular edema


name: epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive


ophthalmomyiasis

description: An myiasis caused by infection with Oestrus ovis.


name: gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy


dermis disorder

description: A disease that involves the dermis.


Sinding-Larsen-Johansson disease

description: Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterized by tenderness and localized swelling of the patella.


name: external auditory canal atresia-vertical talus-hypertelorism syndrome


name: congenital myopathy with reduced type 2 muscle fibers


name: sodium-potassium-ATPase activity of red cell


name: X-linked lethal multiple pterygium syndrome

description: X-linked form of lethal multiple pterygium syndrome.


dermatoosteolysis, Kirghizian type

description: Dermatoosteolysis, Kirghizian type, is characterized by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive.


name: disseminated visceral giant cell angiitis

description: A necrotizing vasculitis characterized by widespread small-vessel giant cell angitis and extravascular granulomas.


dentine erosion

description: A tooth erosion, non-bacterial that involves the dentine.


Nevada syndrome

description: NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period.


hypophysitis

description: Inflammation of the pituitary gland.


hereditary spastic paraplegia 32

description: Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.


multidrug-resistant tuberculosis

description: A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs.


hereditary spastic paraplegia 36

description: Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.


name: SIN3A-related intellectual disability syndrome due to a point mutation


nocturnal enuresis, 2

description: Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred.


name: intellectual developmental disorder, autosomal dominant 74


name: dandy-walker malformation with occipital cephalocele, autosomal dominant


name: nasal cavity and paranasal sinus lethal midline granuloma

description: An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma.


name: Koolen-de Vries syndrome due to a point mutation


body dysmorphic disorder

description: Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning.


name: developmental and epileptic encephalopathy, 88


Marchiafava-Bignami disease

description: Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.


intracranial arterial disease

description: Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes.


name: pituitary deficiency due to Rathke's pouch cysts


name: myalgia-eosinophilia syndrome associated with tryptophan

description: A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities.


aorta atresia

description: An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.


lip disorder

description: A disease involving the lip.


KIZ-related retinopathy

description: Any retinopathy caused by variants in the KIZ gene.


name: leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema


canine gastrointestinal stromal tumor

description: A gastrointestinal stromal tumor occurring in a dog.


immunoproliferative disorder

description: Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins.


phosphorus metabolism disease

description: A metabolic disorder that affects the phosphate homeostasis.


purine metabolism disease

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


name: paternal uniparental disomy of chromosome 13

description: Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.


name: advance sleep phase syndrome, familial, 4


name: autosomal recessive spastic paraplegia type 69


name: MELAS syndrome caused by mutation in MTTQ

description: Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene.


juvenile overlap myositis

description: Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients.


name: benign vaginal mixed epithelial and mesenchymal neoplasm

description: A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements.


name: mitochondrial complex I deficiency, mitochondrial type


adolescent idiopathic scoliosis

description: A scoliosis with no known cause arising in adolescent.


Powassan encephalitis

description: A disease caused by infection with Powassan virus.


ophthalmic herpes zoster

description: Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve.


name: right pulmonary artery, anomalous origin of, familial


name: melanoma, cutaneous malignant, susceptibility to, 5


name: multiple epiphyseal dysplasia, with miniepiphyses

description: Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.


description: Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck.


name: hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities


familial adenomatous polyposis 4

description: An autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur.


tinea imbricata

description: A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.


name: CHRNG-associated hypo-akinesia disorder of prenatal onset

description: A spectrum of presentations resulting from biallelic protein-altering variation in CHRNG. Inactivation of the receptor during early development leads to prenatal hypo-akinesia; subsequent phenotypes are a consequence of this hypo-akinesia and are thought to be dependent upon timing and severity of the anomaly at the neuromuscular junction. A range of phenotypes varying in severity (including both lethal and non-lethal presentations) have been reported, but typically include joint contractures, pterygia, dysmorphic features, vertebral and thoracic anomalies, and additional variable abnormalities. There are no clear genotype-phenotype correlations between the lethal and non-lethal presentations of this spectrum; both inter- and intra-familial variability have been reported, with the same variants being observed in both lethal and non-lethal cases.


name: microangiopathy and leukoencephalopathy, pontine, autosomal dominant


scorpion envenomation

description: Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema.


mixed malaria

description: A malaria that involves infection with more than one species of Plasmodium at the same time.


oculopharyngodistal myopathy 2

description: An autosomal dominant condition caused by mutation(s) in the GIPC1 gene, encoding PDZ domain-containing protein GIPC1. It is characterized by distal muscle weakness and ophthalmoplegia, with a slowly progressive course.


infantile spasms-broad thumbs syndrome

description: A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.


necatoriasis

description: A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia.


hypertensive encephalopathy

description: Encephalopathy resulting from hypertension.


name: childhood multilocular cystic kidney neoplasm

description: A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present.


parasitic skin disorder

description: Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites.


name: biliary, renal, neurologic, and skeletal syndrome


pelvic varices

description: A varicose disease that involves the pelvic region of trunk.


multifocal dystonia

description: A dystonia that involves two or more unrelated body parts.


name: partial deletion of the short arm of chromosome 7

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


name: hemophagocytic lymphohistiocytosis, familial, 6


name: partial trisomy/tetrasomy of chromosome 5


name: diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

description: A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor.


anonychia with flexural pigmentation

description: Anonychia with flexural pigmentation is characterized by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant.


name: spinocerebellar ataxia, autosomal recessive 27


name: vitiligo, progressive, with intellectual disability and urethral duplication


name: partial duplication of the short arm of chromosome 10


name: maternal uniparental disomy of chromosome 13

description: Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.


cystic neoplasm

description: A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma.