name: autosomal recessive nonsyndromic hearing loss 13

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36.


vulvovaginitis, allergic seminal

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


skull base neoplasm

description: A benign or malignant neoplasm that affects the skull base.


urethral disorder

description: A disease involving the urethra.


name: PAX5-related B lymphopenia and autism spectrum disorder

description: PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.


name: acute myeloid leukemia, t(6;9)(p23;q34.1)

description: Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.)


chromosome 17 disorder

description: Chromosomal disorder in which chromosome 17 is affected.


name: spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome


name: high-grade neuroendocrine carcinoma of the corpus uteri

description: High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated.


name: intellectual disability, autosomal recessive 63


idiopathic acute transverse myelitis

description: Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.


name: partial duplication of the long arm of chromosome 14


disorder of peroxisomal transporter

description: Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.


name: onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome


name: acute myeloid leukemia, CEBPA gene mutation

description: Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.)


ergotism

description: Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine.


Ackerman syndrome

description: Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.


altitude sickness

description: Multiple symptoms associated with reduced oxygen at high altitude.


tetramelic monodactyly

description: Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.


classic medulloblastoma

description: Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia.


peroneal nerve paralysis

description: Paralysis of the nerves located in the legs.


name: combined oxidative phosphorylation deficiency 42


Arterivirus infectious disease

description: Infections caused by viruses of the family arteriviridae.


herpetiform pemphigus

description: Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated.


name: brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability


description: Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi.


fascioloidiasis

description: Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma.


name: congenital alveolar dysplasia due to TBX4

description: Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.


name: developmental and epileptic encephalopathy 110


myopathy caused by variation in FKRP

description: Any myopathy in which the cause of the disease is a variation in the FKRP gene.


name: toxic maculopathy due to antimalarial drugs

description: Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss.


lumbar plexus neoplasm

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


benign teratoma

description: A germ cell benign neoplasm that derives from mature tissue elements or a limited amount of immature tissue elements.


name: developmental and epileptic encephalopathy 109


pestivirus infectious disease

description: Infections with viruses of the genus pestivirus, family flaviviridae.


vaginal rhabdomyosarcoma

description: A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina.


name: mitochondrial complex 1 deficiency, nuclear type 25


elastoderma

description: Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery.


name: multiple congenital anomalies/dysmorphic syndrome


name: herpes simplex type 2 infectious disease

description: A disease caused by infection with herpes simplex type 2.


name: transient congenital hypothyroidism due to maternal factor


name: craniosynostosis with ocular abnormalities and hallucal defects


composite lymphoma

description: Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site.


acute maxillary sinusitis

description: Acute form of maxillary sinusitis.


name: autosomal recessive ataxia due to PEX10 deficiency


name: autosomal recessive limb-girdle muscular dystrophy

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


immunodeficiency, common variable, 6

description: Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.


chronic gingivitis

description: Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.


adult-onset nemaline myopathy

description: Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.


cylindrical spirals myopathy

description: Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.


ligneous conjunctivitis

description: A rare form of chronic conjunctivitis characterized by the development of firm fibrin-rich, woody-like pseudomembraneous lesions mainly on the tarsal conjunctivae. Ligneous conjunctivitis is usually the initial and most common manifestation of type I congenital plasminogen deficiency.


autosomal dominant spastic ataxia

description: Autosomal dominant form of spastic ataxia.


name: ovarian cancer, familial, susceptibility to, 1


name: central sleep apnea caused by high altitude


juxtaposition of the atrial appendages

description: Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases.


name: atypical pantothenate kinase-associated neurodegeneration


myoclonic cerebellar dyssynergia

description: A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)


name: familial apolipoprotein gene cluster deletion syndrome


staphylococcal necrotizing pneumonia

description: Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated.


name: ectodermal dysplasia with intellectual disability and syndactyly


basal ganglia cerebrovascular disorder

description: A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).


creatine biosynthetic process disease

description: A disease that has its basis in the disruption of creatine biosynthetic process.


dipetalonemiasis

description: A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids.


name: autosomal dominant combined immunodeficiency due to ERBIN deficiency


name: Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1


conjunctival nevus

description: A benign melanocytic neoplasm that arises from the conjunctiva.


mouth disorder, non-human animal

description: Mouth disorder that occurs in non-human animals.


sulfur metabolism disease

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


chickenpox

description: A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications.


name: scleromyxedema without monoclonal gammopathy

description: Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent.


name: ectopia lentis-chorioretinal dystrophy-myopia syndrome

description: Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.


name: spastic paraparesis-cataracts-speech delay syndrome


name: Pasteurella multocida infectious disease


Ureaplasma urethritis

description: Infections with bacteria of the genus ureaplasma.


name: primary cutaneous peripheral T-cell lymphoma not otherwise specified


chemotherapy-induced alopecia

description: Hair loss as a result of chemotherapy treatment.


nasal cavity lymphoma

description: A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area.


lipodermatosclerosis

description: Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.


name: myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay


non-syndromic polydactyly

description: A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.


Newcastle disease

description: A condition caused by infection by the Newcastle disease virus, which may be characterized by conjunctivitis, respiratory illness, and diarrhea.


familial cutaneous collagenoma

description: Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.


varicella zoster infection

description: A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox.


DKC1-related disorder

description: Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene.


IgG4-related ophthalmic disorder

description: A IgG4-related disease that involves the eye.


name: extraoral halitosis due to methanethiol oxidase deficiency


name: lymphedema-atrial septal defects-facial changes syndrome

description: Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive.


medulloblastoma WNT activated

description: A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent.


name: wooly hair, autosomal recessive 1, with or without hypotrichosis


chancre

description: The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection.


male genital tuberculosis

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


acute myeloid leukemia with BCR-ABL1

description: A rare, de novo acute myeloid leukemia in which the blasts harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia.


neurogenic thoracic outlet syndrome

description: Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS.


Aicardi-Goutieres syndrome 8

description: A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Brain imaging shows diffusely abnormal white matter, severe cerebral atrophy, and intracranial calcification.


complex neurodevelopmental disorder

description: A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).


adult acute lymphoblastic leukemia

description: An acute lymphoblastic leukemia occurring during adulthood.


aggressive NK-cell leukemia

description: A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen.


name: peroxisome biogenesis disorder, complementation group K


name: peroxisome biogenesis disorder due to PEX16 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.


name: spinal muscular atrophy, distal, autosomal recessive, 6


name: splenogonadal fusion-limb defects-micrognathia syndrome

description: Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.


upper respiratory tract disorder

description: A disease involving the upper respiratory tract.


name: Charcot-Marie-Tooth disease with ptosis and parkinsonism


name: partial duplication of the short arm of chromosome 6

description: Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. 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 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from a parent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person.


name: non-specific autoimmune brainstem encephalitis with characteristic antibodies


name: developmental and epileptic encephalopathy, 87


name: partial duplication of the long arm of chromosome 6

description: Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. 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 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person.


name: developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities


placental site trophoblastic tumor

description: Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage.


name: pulmonary hypertension, primary, autosomal recessive


chromosome 21 disorder

description: Chromosomal disorder in which chromosome 21 is affected.


name: glycogen storage disease type 1 due to SLC37A4 mutation

description: Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.


Cockayne syndrome type 3

description: Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood.


name: situs inversus totalis with cystic dysplasia of kidneys and pancreas


sebaceous gland disorder

description: A disease involving the sebaceous gland.


name: hemolytic poikilocytic anemia due to reduced ankyrin binding sites


name: hypoalphalipoproteinemia, primary, 2, intermediate


eumycotic mycetoma

description: A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes.


name: intellectual developmental disorder 60 with seizures


dyschondrosteosis-nephritis syndrome

description: Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.


sacrum chordoma

description: A chordoma (disease) that involves the fused sacrum.


name: febrile ulceronecrotic Mucha-Habermann disease

description: Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.


name: peroxisome biogenesis disorder due to PEX3 defect

description: Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.


name: inborn disorder of lysine, hydroxylysine, and tryptophan metabolism

description: A disorder of amino acid metabolism that has its basis in the disruption of the metabolism of lysine, hydroxylysine, and/or tryptophan.


tamoxifen-related endometrial lesion

description: A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma.


name: glycosylphosphatidylinositol biosynthesis defect 25


LCAT deficiency

description: LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.


recurrent idiopathic neuroretinitis

description: A rare inflammatory optic neuropathy characterized by recurrent episodes of idiopathic inflammation of the optic nerve head with optic disk edema associated with macular exudate in a star-shaped pattern. Patients present with acute visual loss, most typically in the form of a large central scotoma. Pain is mild or absent. Bilateral involvement is frequent and usually sequential. The interval between attacks is highly variable, ranging from months to several years. Visual loss is cumulative with each attack and often severe.


primary lymphedema

description: A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection.


name: corticosteroid-sensitive aseptic abscess syndrome

description: Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders.


PRPF8-related retinopathy

description: Any retinopathy caused by a variant in the PRPF8 gene.


neurotrophic keratopathy

description: Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision.


spinal polio

description: A paralytic poliomyelitis in which the site of paralysis is the spinal cord.


atheroembolism of kidney

description: A cholesterol embolism that involves the kidney.


reactive airway disease

description: Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.


name: autosomal recessive spastic paraplegia type 59


name: mitochondrial complex 1 deficiency, nuclear type 26


Prieto syndrome

description: This syndrome is characterized by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.


non-atopic asthma

description: A type of asthma that isn't related to an allergy trigger like pollen or dust, and is less common than atopic asthma.


name: celiac disease-epilepsy-cerebral calcification syndrome

description: Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications.


name: female infertility due to oocyte meiotic arrest


name: acute megakaryoblastic leukemia in down syndrome


pseudorabies

description: A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals.


name: developmental delay, dysmorphic facies, and brain anomalies


name: craniosynostosis-intellectual disability syndrome of 51N and Gettig


name: intellectual disability, autosomal recessive 4


name: hereditary breast ovarian cancer syndrome

description: An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.


name: hypohidrosis with abnormal palmar dermal Ridges


name: Friedreich ataxia and congenital glaucoma


pseudounicornuate uterus

description: Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.


Hendra virus infection

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


name: microcephaly, growth restriction and increased sister chromatid exchange


bacterial vaginosis

description: Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection.


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


name: immunodeficiency 65, susceptibility to viral infections


hereditary otorhinolaryngologic disease

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


papular xanthoma

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


name: dystonia, early-onset, and/or spastic paraplegia


name: neuronopathy, distal hereditary motor, autosomal recessive 7


name: congenital pulmonary veins atresia or stenosis

description: Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.


name: disorder of lectin complement activation pathway

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


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

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


malignant peritoneal mesothelioma

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


malignant histiocytosis

description: Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells.


malignant adenoma

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


name: acquired carbohydrate metabolism disease

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


Enterococcus faecalis infection

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


neonatal alloimmune neutropenia

description: A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported.


name: spastic paraplegia 90B, autosomal recessive


malignant cranial nerve neoplasm

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


choroideremia hypopituitarism

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


pemphigoid

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


name: ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia


name: spondyloepiphyseal dysplasia tarda, Kohn type

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


name: mitochondrial complex 4 deficiency, nuclear type 19


name: endocrine system disorder, non-human animal

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


name: autosomal recessive nonsyndromic hearing loss 96

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


syphilitic encephalitis

description: An encephalitis caused by infection with Treponema.


stromal predominant kidney Wilms tumor

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


name: muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

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


ureteral lymphoma

description: A lymphoma that involves the ureter.


name: pilodental dysplasia-refractive errors syndrome

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


description: Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.


name: spastic paraplegia 90A, autosomal dominant


Grayson-Wilbrandt corneal dystrophy

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


name: F12-associated cold autoinflammatory syndrome


canine hemangiosarcoma

description: Hemangiosarcoma occurring in a dog. It is an incurable tumor of vascular endothelial cells and occurs more commonly in dogs beyond middle age, and is especially common in certain breeds. Most hemangiosarcomas do not have a known cause.


cyclic vomiting syndrome

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


name: cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism


name: strictly posterior acute myocardial infarction


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

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


postinfectious vasculitis

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


AIPL1-related retinopathy

description: A retinopathy caused by biallelic variants in the AIPL1 gene.


spastic ataxia 7

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


name: amyloidosis of gingiva and conjunctiva, with intellectual disability


kidney lipoma

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


acute hemorrhagic leukoencephalitis

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


name: neurodevelopmental disorder with hypotonia and brain abnormalities


mosaic trisomy 7

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


proliferating trichilemmal cyst

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


gonadal tissue neoplasm

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


Aloi Tomasini Isaia syndrome

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


name: platelet responsiveness to adrenaline, depressed


name: degeneration of macula and posterior pole


name: skin disease caused by bacterial infection

description: Skin diseases caused by bacteria.


pulmonary hypertension, neonatal

description: Abnormally high blood pressure in a newborn child.


name: X-linked recessive mitochondrial myopathy

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


Lyell syndrome

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


name: neurodevelopmental disorder with or without variable movement or behavioral abnormalities


benign vaginal mixed tumor

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


name: isolated growth hormone deficiency, type 4


name: peripheral motor neuropathy-dysautonomia syndrome

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


cervical alveolar soft part sarcoma

description: An alveolar soft part sarcoma arising from the cervix.


focal myositis

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


benign neoplasm of renal pelvis

description: A benign neoplasm that involves the renal pelvis.


classic pyoderma gangrenosum

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


name: muscular dystrophy-dystroglycanopathy, type B


nephrogenic adenoma of the urethra

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


name: non-syndromic bicoronal and sagittal craniosynostosis


name: intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration


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

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


name: partial deletion of the long arm of chromosome 7

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


name: neurodevelopmental disorder with speech delay and variable ocular anomalies


name: pseudoxanthoma elasticum-like papillary dermal elastolysis

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


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


toxin-mediated infectious botulism

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


periarthritis

description: Inflammation of the tissues around a joint. (Dorland, 27th ed)


canine transitional cell carcinoma

description: A malignant neoplasm that affects dogs, arising from transitional epithelium.


name: secondary central precocious puberty in male


name: lethal arteriopathy syndrome due to fibulin-4 deficiency


isolated spina bifida

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


name: proteasome-associated autoinflammatory syndrome 5


name: fibula, recurrent dislocation of head of


name: furuncular myiasis due to Cordylobia anthropophaga


histiocytic sarcoma

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


name: mesomelic dwarfism of hypoplastic tibia and radius type


primary motor cortex epilepsy

description: A epilepsy that involves the primary motor cortex.


malignant mesenchymoma

description: A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation.


name: intellectual developmental disorder with speech delay, autism, and dysmorphic facies


cone-rod dystrophy 17

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


name: intellectual disability-brachydactyly-Pierre Robin syndrome

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


name: neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia


name: partial deletion of the long arm of chromosome 16


hereditary lipodystrophy

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


mastocytoma

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


KIF7-related ciliopathy

description: A spectrum of ciliopathy disorders that typically show autosomal recessive inheritance and includes Al-Gazali-Bakalinova syndrome, hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12.


16p13.11 microduplication syndrome

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


venom allergy

description: An allergic disease involving venom.


name: primary tuberculosis of the digestive system


Chandler syndrome

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


medulloblastoma non-WNT/non-SHH group 3

description: A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present.


name: malignant pleural solitary fibrous tumor

description: A malignant form of pleural solitary fibrous tumor.


name: non-syndromic congenital bronchial atresia


arenavirus hemorrhagic fever

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


refeeding syndrome

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


neurodermatitis

description: Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin.


disorder of protein O-glycosylation

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


name: spastic paraplegia 83, autosomal recessive


name: autosomal recessive humeroradial synostosis

description: Autosomal recessive form of humeroradial synostosis (disease).


athyreotic congenital hypothyroidism

description: Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)


PrP systemic amyloidosis

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


benign neoplasm of sublingual gland

description: A benign neoplasm that involves the sublingual gland.


persistent placoid maculopathy

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


ring chromosome 3

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


renal pelvis neoplasm

description: A neoplasm (disease) that involves the renal pelvis.


chondroid hamartoma

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


LCA5-related retinopathy

description: A retinopathy caused by biallelic variants in the LCA5 gene.


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3


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

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


name: intrinsic factor and r binder, combined congenital deficiency of


nephropathic infantile cystinosis

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


Brucella melitensis brucellosis

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


name: cerebral sclerosis, diffuse, scholz type


benign uterine ligament neoplasm

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


name: idiopathic steroid-sensitive nephrotic syndrome with minimal change


name: developmental and epileptic encephalopathy, 66

description: An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the PACS2 gene, encoding phosphofurin acidic cluster sorting protein 2.


name: immune reconstitution inflammatory syndrome

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


connective tissue neoplasm

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


name: central nervous system mesenchymal non-meningothelial tumor

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


name: epithelial squamous dysplasia, keratinizing desquamative, of urinary tract


name: inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation


name: osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

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


name: partial duplication of the short arm of chromosome 2

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


Bazex-Dupre-Christol syndrome

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


mesenteric varices

description: A varicose disease that involves the mesentery.


acute asthma

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


hemorrhagic fever-renal syndrome

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


childhood extraosseous osteosarcoma

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


name: nervous system disorder, non-human animal

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


idiopathic pulmonary artery dilatation

description: Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.


name: oocyte/zygote/embryo maturation arrest 18


thyroid lymphoma

description: A lymphoma primarily involving the thyroid gland.


radiodermatitis

description: A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation.


neuromuscular junction disease

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


lichen amyloidosis

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


name: neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures


name: metaphyseal dysplasia without hypotrichosis


viral hemorrhagic fever

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


name: B-lymphoblastic leukemia/lymphoma with IL3-IGH

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


name: mitochondrial complex 4 deficiency, nuclear type 16


name: encephalopathy due to sulfite oxidase deficiency

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


name: non-severe combined immunodeficiency due to COPG1 deficiency

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


perceptual disorders

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


name: developmental and epileptic encephalopathy 108


tuberculosis, spinal

description: Tuberculosis of the vertebrae.


congenital trigeminal anesthesia

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


acrofrontofacionasal dysostosis 2

description: A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.


non-distal trisomy 10q

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


dirofilariasis

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


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


name: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia


benign neoplasm of retina

description: A benign neoplasm that involves the retina.


midbrain disorder

description: A disease or disorder that involves the midbrain.


name: infectious disorder of the nervous system

description: A infectious disease that involves the nervous system.


P5CS deficiency

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


frontal lobe neoplasm

description: A neoplasm involving a frontal lobe.


name: autosomal dominant nonsyndromic hearing loss 58

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


resistant hypertension

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


name: immune deficiency due to impaired neutrophil phagocytosis and migration


Bolivian hemorrhagic fever

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


thyroid malformation

description: An anatomic abnormality of the thyroid gland.


name: partial trisomy of the long arm of chromosome 9


phalangeal microgeodic syndrome

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


name: arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development


name: intellectual disability, autosomal recessive 66


name: disabling pansclerotic morphea of childhood

description: Localized scleroderma presenting before the age of eighteen.


gonococcal iridocyclitis

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


CACNA2D4-related retinopathy

description: Any retinopathy caused by variants in the CACNA2D4 gene.


name: autosomal dominant progressive nephropathy with hypertension


name: generalized epilepsy with febrile seizures plus, type 10


Argentine hemorrhagic fever

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


mixed liposarcoma

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


citrin deficiency

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


name: chronic recurrent multifocal osteomyelitis 3


name: discrete fibromuscular subaortic stenosis


protozoa infectious disease

description: An infection that is caused by protozoans.


glans penis cancer

description: A malignant neoplasm involving the glans penis.


severe spondylodysplastic dysplasia

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


name: neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus


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


name: primary cutaneous marginal zone B-cell lymphoma

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


chromosome 12p deletion

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


Pilotto syndrome

description: Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975.


name: patella, familial recurrent dislocation of


name: leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate


name: intellectual disability, autosomal recessive 31


rhabdoid meningioma

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


urothelial hyperplasia

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


name: EMILIN-1-related connective tissue disease


white forelock with malformations

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


black piedra

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


Venezuelan hemorrhagic fever

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


pulmonary amyloidosis

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


cocaine embryofetopathy

description: A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.


name: inborn disorder of branched-chain amino acid metabolism

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


complex hereditary spastic paraplegia

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


name: mitochondrial complex 1 deficiency, nuclear type 13


name: arteritic anterior ischemic optic neuropathy

description: An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)


mosaic trisomy 22

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


self-limited familial neonatal epilepsy

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


systemic monochloroacetate poisoning

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


name: metopic ridging-ptosis-facial dysmorphism syndrome


name: hemangiomatosis, cutaneous, with associated features


primary bone lymphoma

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


name: childhood precursor T-lymphoblastic lymphoma/leukemia

description: A T lymphoblastic leukemia/lymphoma that occurs during childhood.


uterine cervix leukoplakia

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


testis sarcoma

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


name: polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG

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


leishmaniasis, diffuse cutaneous

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


name: intermediate cell type ciliary body melanoma

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


lymph node tuberculosis

description: Tuberculosis of the lymph node.


name: immunodeficiency 82 with systemic inflammation

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


ocular siderosis

description: A hemosiderosis that involves the camera-type eye.


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


vagina sarcoma

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


name: communicating congenital bronchopulmonary-foregut malformation


acute idiopathic urticaria

description: Acute form of idiopathic urticaria.


name: dwarfism, intellectual disability, and eye abnormality


dartoic leiomyoma

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


punctate inner choroidopathy

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


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


mosaic variegated aneuploidy syndrome 2

description: Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.


camptobrachydactyly

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


congenital mitral valve agenesis

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


name: hemolytic anemia due to glutathione reductase deficiency

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


name: muscular dystrophy-dystroglycanopathy, type C


neurosyphilis

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


19p13.3 microduplication syndrome

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


orofaciodigital syndrome type 13

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


staphylococcal toxic-shock syndrome

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


immunodeficiency, common variable, 12

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


Mycobacterium xenopi infection

description: A disease caused by infection with Mycobacterium xenopi.


chronic closed-angle glaucoma

description: Chronic form of angle-closure glaucoma.


LAMA2-related muscular dystrophy

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


ring chromosome 17

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


syphilitic meningitis

description: An infectious meningitis caused by infection with Treponema.


malignant neoplasm of endocervix

description: A cancer that involves the endocervix.


Rickettsia helvetica spotted fever

description: A disease caused by infection with Rickettsia helvetica.


name: immunodeficiency 93 and hypertrophic cardiomyopathy

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


endemic typhus

description: A bacterial infection caused by Rickettsia typhi.


thymus lipoma

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


glucose metabolism disease

description: A metabolic disorder characterized by abnormal blood glucose levels.


glycerol metabolism disease

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


venous thoracic outlet syndrome

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


injection anthrax

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


name: vitamin B12- and folate-independent constitutional megaloblastic anemia


Akaba Hayasaka syndrome

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


phrynoderma

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


isolated megalencephaly

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


infantile mercury poisoning

description: Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia.


acinar dysplasia

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


PCARE-related retinopathy

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


mitochondrial DNA maintenance syndrome

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


name: endometrioid stromal sarcoma of the cervix

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


name: X-linked intellectual disability, van Esch type

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


lacrimal system cancer

description: A cancer that involves the lacrimal apparatus.


skin appendage disorder

description: A disease that involves the cutaneous appendage.


name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies


apical myocardial infarction

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


chromosome inversion disorder

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


prostate sarcoma

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


nevoid basal cell carcinoma syndrome

description: A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.


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

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


name: pyruvate carboxylase deficiency, infantile form

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


malignant germ cell tumor

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


name: sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy


name: Tessadori-Van Haaften neurodevelopmental syndrome 4


benign neoplasm of epiglottis

description: A benign neoplasm that involves the epiglottis.


name: inherited fatty acid metabolism disorder

description: A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.


name: hereditary hemorrhagic telangiectasia type 3


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

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


hereditary spastic paraplegia 16

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


name: hemolytic anemia due to erythrocyte adenosine deaminase overproduction

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


PAGOD syndrome

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


erythrocyte disorder

description: A disease or disorder that involves the erythrocyte.


name: cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1


pituitary stalk meningioma

description: A meningioma that affects the pituitary stalk.


name: parasitic ectoparasitic infectious disease

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


name: autosomal recessive nonsyndromic hearing loss 47

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


name: X-linked intellectual disability, Schimke type

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


non-secretory plasma cell myeloma

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


Alzheimer disease 16

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


uterine body mixed cancer

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


name: neurological muscular channelopathy due to a genetic calcium channel defect


name: neuromuscular disorder, congenital, with dysmorphic facies


name: neuronopathy, distal hereditary motor, autosomal dominant 1

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


name: primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma


name: mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5


name: intellectual disability, autosomal recessive 64


schizoid personality disorder

description: A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness.


idiopathic panuveitis

description: Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.


name: mitochondrial complex 4 deficiency, nuclear type 18


name: mixed phenotype acute leukemia, B/myeloid

description: An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.


acute papillary necrosis

description: Acute form of kidney papillary necrosis.


name: diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate