brucellosis, bovine

description: A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent.


canine distemper

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

description: A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species.


coronaviral enteritis of turkeys

description: An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus.


feline panleukopenia

description: A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus.


fowlpox

description: A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts.


furunculosis

description: A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida.


name: gastroenteritis, transmissible, of swine

description: A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus.


hepatitis, infectious canine

description: A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea.


keratoconjunctivitis, infectious

description: Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia.


paratuberculosis

description: A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis.


name: pneumonia, progressive interstitial, of sheep

description: Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity.


pulmonary adenomatosis, ovine

description: A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus.


rinderpest

description: A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010.


venereal tumors, veterinary

description: Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur.


mammary neoplasms, animal

description: Tumors or cancer of the mammary gland in animals (mammary glands, animal).


name: simian acquired immunodeficiency syndrome

description: Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus.


name: feline acquired immunodeficiency syndrome

description: Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv).


name: murine acquired immunodeficiency syndrome

description: Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas.


leukemia, feline

description: A neoplastic disease of cats frequently associated with feline leukemia virus infection.


enzootic bovine leukosis

description: A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding.


feline infectious peritonitis

description: Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis.


name: porcine reproductive and respiratory syndrome

description: A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048)


mink viral enteritis

description: A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route.


name: porcine postweaning multisystemic wasting syndrome

description: A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2.


pythiosis, non-human animal

description: A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, and fishes. It is classified into three forms: ocular, cutaneous, and arterial.


name: type II hypersensitivity reaction disease

description: A disease that has its basis in the disruption of type II hypersensitivity.


autoimmune urticaria

description: An autoimmune form of urticaria (disease).


livedoid vasculopathy

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


pneumonia caused by chlamydia

description: An pneumonia caused by infection with Chlamydia.


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


limbal stem cell deficiency

description: A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.


name: microcephaly, epilepsy, and diabetes syndrome 2


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 2


ovarian remnant syndrome

description: Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function.


prurigo nodularis

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


name: mitochondrial complex 1 deficiency, nuclear type 12


name: mitochondrial complex 1 deficiency, nuclear type 30


name: intellectual developmental disorder, X-linked 108


name: congenital disorder of glycosylation, type ICC


name: hypothyroidism, congenital, nongoitrous, 8


name: hypothyroidism, congenital, nongoitrous, 9


name: intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type


description: An X-linked dominant condition caused by mutation(s) in the ZC4H2 gene, encoding zinc finger C4H2 domain-containing protein.  It is characterized by neurogenic arthrogryposis resulting from decreased fetal movements. Additional features may include global developmental delay, peripheral neuropathy, and characteristic facies.


name: congenital disorder of glycosylation, type IIr


name: immunodeficiency 74, COVID-19-related, X-linked


name: developmental and epileptic encephalopathy, 85, with or without midline brain defects


VEXAS syndrome

description: An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death.


Buschke Lowenstein tumor

description: A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region.


HHV-6 encephalitis

description: HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors.


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


name: mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1

description: A genetic condition caused by mutation(s) in the MTATP6 gene, encoding ATP synthase subunit a. The disorder is part of a group of congenital defects of complex V (ATP synthase).


name: autosomal recessive dyskeratosis congenita 4

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


Kleefstra syndrome 1

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.


autosomal recessive cutis laxa type 2D

description: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.


autosomal recessive cutis laxa type 2C

description: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.


name: congenital anomalies of kidney and urinary tract 2

description: Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.


amyotrophic lateral sclerosis type 23

description: An autosomal dominant subtype of amyotrophic lateral sclerosis caused by mutation(s) in the ANXA11 gene, encoding annexin A11.


generalized lipodystrophy

description: Almost complete absence of subcutaneous and/or visceral adipose tissue.


partial lipodystrophy

description: Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body.


lung colloid adenocarcinoma

description: A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells.


name: autosomal recessive severe congenital neutropenia

description: Severe congenital neutropenia inherited in an autosomal recessive pattern.


poisoning

description: A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent.


name: peripheral neuropathy, autosomal recessive, with or without impaired intellectual development


name: muscular dystrophy, limb-girdle, autosomal dominant 4


name: severe combined immunodeficiency due to CARMIL2 deficiency


name: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8


name: muscular dystrophy, limb-girdle, autosomal recessive 23


name: developmental and epileptic encephalopathy, 67


name: glycosylphosphatidylinositol biosynthesis defect 18


name: intellectual developmental disorder with hypertelorism and distinctive facies


name: extraoral halitosis due to methanethiol oxidase deficiency


name: intellectual developmental disorder, autosomal dominant 69


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


name: combined oxidative phosphorylation deficiency 40


name: combined oxidative phosphorylation deficiency 41


name: combined oxidative phosphorylation deficiency 42


name: alopecia-intellectual disability syndrome 4


name: hypogonadotropic hypogonadism 25 with anosmia


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


name: combined oxidative phosphorylation deficiency 43


name: autoinflammation with episodic fever and lymphadenopathy


name: combined oxidative phosphorylation deficiency 44


name: neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities


name: neurodevelopmental disorder with hypotonia, microcephaly, and seizures


name: neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline


name: skeletal dysplasia, mild, with joint laxity and advanced bone age


name: seizures, early-onset, with neurodegeneration and brain calcifications


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


name: leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome


name: neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures


name: congenital disorder of glycosylation, type iit


Liberfarb syndrome

description: A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.


name: neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity


name: microcephaly, developmental delay, and brittle hair syndrome


name: intellectual developmental disorder with autistic features and language delay, with or without seizures


name: developmental and epileptic encephalopathy, 86


name: neuronopathy, distal hereditary motor, autosomal recessive 8


name: neurodevelopmental, jaw, eye, and digital syndrome


name: developmental and epileptic encephalopathy, 87


name: neurodevelopmental disorder with language impairment and behavioral abnormalities


name: arrhythmogenic right ventricular dysplasia, familial, 14


name: neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities


name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome


name: granulomatous disease, chronic, autosomal recessive, 5


name: hyper-IgE recurrent infection syndrome 5, autosomal recessive


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


name: developmental and epileptic encephalopathy, 88


name: spondylometaphyseal dysplasia with corneal dystrophy


name: vertebral, cardiac, renal, and limb defects syndrome 3


oculopharyngodistal myopathy 2

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


name: immunodeficiency 80 with or without congenital cardiomyopathy

description: An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.


name: developmental and epileptic encephalopathy 6B


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 3


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 4


cardiomyopathy, dilated, 2D

description: A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has material basis in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13.


immunodeficiency 81

description: A human immunodeficiency characterized by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation, caused by a variation in the SLP76 gene.


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.


name: Leber hereditary optic neuropathy, autosomal recessive


name: combined oxidative phosphorylation deficiency 52


name: spinocerebellar ataxia, autosomal recessive 29


name: encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10


name: inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive


name: cardiomyopathy, familial hypertrophic, 28


name: spinocerebellar ataxia, autosomal recessive 30


name: spinocerebellar ataxia, autosomal recessive 31


name: mitochondrial dna depletion syndrome 16B (neuroophthalmic type)


name: megacystis-microcolon-intestinal hypoperistalsis syndrome 5


name: encephalitis, acute, infection (viral)-induced, susceptibility to, 11


name: cutis laxa, autosomal recessive, type 2E


name: microcephaly 28, primary, autosomal recessive


name: myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive


name: ciliary dyskinesia, primary, 47, and lissencephaly


name: facioscapulohumeral muscular dystrophy 3, digenic


name: facioscapulohumeral muscular dystrophy 4, digenic


name: short-rib thoracic dysplasia 21 without polydactyly


name: cholestasis, progressive familial intrahepatic, 6


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.


Aicardi-Goutieres syndrome 9

description: A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.


cardiomyopathy, dilated, 2E

description: A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.


name: neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2


name: combined oxidative phosphorylation deficiency 53

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


name: visceral neuropathy, familial, 2, autosomal recessive


name: congenital disorder of glycosylation, type 2v


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


name: epilepsy, idiopathic generalized, susceptibility to, 18


name: congenital disorder of glycosylation, type IIw


name: hearing loss, autosomal recessive 118, with cochlear aplasia


name: developmental and epileptic encephalopathy 97


name: muscular dystrophy, limb-girdle, autosomal recessive 27


immunodeficiency 87 and autoimmunity

description: An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation.


name: Charcot-Marie-Tooth disease, axonal, Type 2HH


name: developmental and epileptic encephalopathy 98


name: developmental and epileptic encephalopathy 99


name: heterotaxy, visceral, 10, autosomal, with male infertility


name: heterotaxy, visceral, 11, autosomal, with male infertility


name: spastic paraplegia 84, autosomal recessive


immunodeficiency 88

description: An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.


name: spondylometaphyseal dysplasia, pagnamenta type


name: epidermolysis bullosa simplex 2A, generalized severe


name: immunodeficiency 91 and hyperinflammation

description: An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease.


immunodeficiency 92

description: An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative.


tetrasomy

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


name: cholestasis, progressive familial intrahepatic, 7, with or without hearing loss


name: cholestasis, progressive familial intrahepatic, 8


name: spastic paraplegia 85, autosomal recessive


name: leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy


name: agammaglobulinemia 9, autosomal recessive

description: An autosomal recessive primary immunodeficiency characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. Additional features include failure to thrive and skin involvement. The severity is variable: more severe cases may require hematopoietic stem cell transplantation, whereas others can be treated effectively with Ig replacement therapy.


name: epidermolysis bullosa simplex 2B, generalized intermediate


name: epidermolysis bullosa simplex 2C, localized


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.


name: agammaglobulinemia 10, autosomal dominant

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


name: intellectual developmental disorder, autosomal recessive 73


name: hypogonadotropic hypogonadism 26 with or without anosmia


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


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


name: central hypoventilation syndrome, congenital, 3


name: combined oxidative phosphorylation deficiency 54


Klebsiella pneumonia

description: An pneumonia caused by infection with Klebsiella.


Klebsiella infectious disease

description: Infections with bacteria of the genus KLEBSIELLA.


name: cystic partially differentiated nephroblastoma

description: A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative.


name: Bryant-Li-Bhoj neurodevelopmental syndrome 1


name: Bryant-Li-Bhoj neurodevelopmental syndrome 2


name: dyskinesia with orofacial involvement, autosomal recessive


name: leukoencephalopathy, hereditary diffuse, with spheroids 2


name: gastrointestinal defects and immunodeficiency syndrome 2

description: A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency.


name: spastic paraplegia 86, autosomal recessive


name: Charcot-Marie-Tooth disease, demyelinating, IIA 1I


cardiomyopathy, dilated, 2F

description: A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32.


name: immunodeficiency 94 with autoinflammation and dysmorphic facies


name: hypogonadotropic hypogonadism 27 without anosmia


name: Charcot-Marie-Tooth disease, demyelinating, IIA 1H


name: pulmonary fibrosis and/or bone marrow failure, telomere-related, 6


immunodeficiency 96

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


name: developmental and epileptic encephalopathy 100


name: mitochondrial DNA depletion syndrome 20 (mngie type)


autoimmune glomerulonephritis

description: An autoimmune form of glomerulonephritis (disease).


autoimmune cardiomyopathy

description: An autoimmune form of cardiomyopathy.


autoimmune atherosclerosis

description: An autoimmune form of atherosclerosis.


autoimmune vasculitis

description: An autoimmune form of vasculitis.


Trichomonas prostatitis

description: Infection of the prostate gland caused by Trichomonas vaginalis.


Trichomonas cystitis

description: An cystitis caused by infection with Trichomonas vaginalis.


Trichomonas cervicitis

description: An cervicitis (disease) caused by infection with Trichomonas vaginalis.


name: Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive


name: immunodeficiency 97 with autoinflammation

description: An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported.


trichomonal vulvovaginitis

description: An vulvovaginitis caused by infection with Trichomonas vaginalis.


name: neutropenia, severe congenital, 9, autosomal dominant


name: developmental and epileptic encephalopathy 101


name: Tessadori-van Haaften neurodevelopmental syndrome 1


name: Tessadori-van Haaften neurodevelopmental syndrome 2


name: epidermolysis bullosa, junctional 2A, intermediate


name: epidermolysis bullosa, junctional 2B, severe


name: epidermolysis bullosa, junctional 3A, intermediate


name: epidermolysis bullosa, junctional 3B, severe


name: epidermolysis bullosa, junctional 4, intermediate


name: epidermolysis bullosa, junctional 5A, intermediate


name: congenital disorder of deglycosylation 2


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


name: leukoencephalopathy, hereditary diffuse, with spheroids


name: immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias

description: An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment.


name: cholestasis, progressive familial intrahepatic, 9


name: monosomy 7 myelodysplasia and leukemia syndrome 2


name: cholestasis, progressive familial intrahepatic, 10


name: immunodeficiency 101 (varicella zoster virus-specific)


name: cholestasis, progressive familial intrahepatic, 11


name: macrothrombocytopenia, isolated, 2, autosomal dominant


name: gastrointestinal defect and immunodeficiency syndrome


name: developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy


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

description: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems.


name: intellectual developmental disorder with speech delay and axonal peripheral neuropathy


name: neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities


name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1


name: combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2


name: developmental and epileptic encephalopathy 89


name: neuronopathy, distal hereditary motor, type 5C

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.


name: neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities


name: vertebral hypersegmentation and orofacial anomalies


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 8


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 5


name: mandibuloacral dysplasia progeroid syndrome


name: developmental and epileptic encephalopathy 102


name: amyotrophic lateral sclerosis 26 with or without frontotemporal dementia


cardiomyopathy, dilated, 2G

description: A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has material basis in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31.


name: intellectual developmental disorder, autosomal dominant 66


name: leukoencephalopathy, progressive, infantile-onset, with or without deafness


immunodeficiency 76

description: An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.


name: intellectual developmental disorder with paroxysmal dyskinesia or seizures


name: mitochondrial complex 1 deficiency, nuclear type 36


Trichomonas tenax infectious disease

description: An disease or disorder caused by infection with Trichomonas tenax.


name: intellectual disability, X-linked, syndromic, 35


name: intellectual disability, X-linked, syndromic, Houge type


name: intellectual disability, autosomal dominant 45


name: intellectual disability, autosomal dominant 46


name: intellectual disability, autosomal dominant 47


name: intellectual disability, autosomal dominant 48


name: intellectual disability, autosomal recessive 61

description: An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13.


name: intellectual disability, autosomal dominant 50


name: intellectual disability, autosomal dominant 51


name: intellectual disability, autosomal dominant 52


name: intellectual disability, autosomal dominant 53


name: intellectual disability, autosomal dominant 54


name: intellectual disability, autosomal dominant 55, with seizures


name: intellectual disability, autosomal dominant 56


name: frontotemporal dementia and/or amyotrophic lateral sclerosis


name: proteasome-associated autoinflammatory syndrome 5


name: microcephaly 26, primary, autosomal dominant


name: microcephaly 27, primary, autosomal dominant


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


name: proteasome-associated autoinflammatory syndrome 4


name: intellectual developmental disorder, autosomal dominant 64


name: mitochondrial complex 2 deficiency, nuclear type 2


name: mitochondrial complex 2 deficiency, nuclear type 3


name: erythrokeratodermia variabilis et progressiva 7


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


name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2


name: developmental and epileptic encephalopathy 103


name: intellectual developmental disorder, autosomal dominant 67


name: neurofacioskeletal syndrome with or without renal agenesis


name: deafness, congenital, and adult-onset progressive leukoencephalopathy


name: intellectual developmental disorder, autosomal recessive 76


name: intellectual developmental disorder, autosomal dominant 68


name: immunodeficiency 106, susceptibility to viral infections


name: immunodeficiency 78 with autoimmunity and developmental delay


name: mitochondrial complex 2 deficiency, nuclear type 4


name: neuronopathy, distal hereditary motor, autosomal recessive 7


name: sulfide quinone oxidoreductase deficiency


name: blistering, acantholytic, of oral and laryngeal mucosa


name: vertebral, cardiac, tracheoesophageal, renal, and limb defects


name: developmental delay with dysmorphic facies and dental anomalies


name: short stature, oligodontia, dysmorphic facies, and motor delay


name: Tessadori-Van Haaften neurodevelopmental syndrome 3


name: neurodevelopmental disorder with or without autism or seizures


name: global developmental delay with speech and behavioral abnormalities


name: mitochondrial complex 1 deficiency, nuclear type 37


name: neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism


name: Tessadori-Van Haaften neurodevelopmental syndrome 4


name: vitreoretinopathy with phalangeal epiphyseal dysplasia


name: neurodegeneration with ataxia and late-onset optic atrophy


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


name: odontochondrodysplasia 2 with hearing loss and diabetes


name: neurodevelopmental disorder with dysmorphic facies and variable seizures


autoimmune uveitis

description: An autoimmune form of uveitis (disease).


autoimmune optic neuritis

description: An autoimmune form of optic neuritis.


autoimmune gastritis

description: Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma.


name: spastic paraplegia 87, autosomal recessive


name: developmental and epileptic encephalopathy 104


name: developmental and epileptic encephalopathy 105 with hypopituitarism


name: immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection


name: intellectual developmental disorder, autosomal recessive 77


name: famililal cerebral cavernous malformations

description: A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.


name: cholestasis, progressive familial intrahepatic, 12


name: advance sleep phase syndrome, familial, 4


name: developmental and epileptic encephalopathy 106


name: ciliary dyskinesia, primary, 48, without situs inversus


name: developmental and epileptic encephalopathy 107

description: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the NAPB gene, encoding beta-soluble NSF attachment protein.


name: microcephaly 29, primary, autosomal recessive


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


restrictive dermopathy

description: A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.


name: mitochondrial complex II deficiency, nuclear type


high altitude pulmonary edema

description: A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.


triopia

description: A craniofacial malformation with prosencephalic duplication; the presence of three eyes.


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


Glanzmann thrombasthenia 1

description: A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia


name: autoinflammatory syndrome, familial, Behcet-like


Olmsted syndrome

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


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


hypercholanemia, familial 1

description: A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.


name: microcephaly, epilepsy, and diabetes syndrome 1


name: familial severe combined immunodeficiency


name: developmental delay with short stature, dysmorphic facial features, and sparse hair


name: hennekam lymphangiectasia-lymphedema syndrome 3


name: ophthalmoplegia, external, with rib and vertebral anomalies


name: isolated growth hormone deficiency, type 4


name: intellectual developmental disorder with macrocephaly, seizures, and speech delay


name: isolated growth hormone deficiency, type 5


name: spondyloepimetaphyseal dysplasia, Krakow type


name: cardiac, facial, and digital anomalies with developmental delay

description: An autosomal dominant condition caused by mutation(s) in the TRAF7 gene, encoding E3 ubiquitin-protein ligase TRAF7. It is characterized by developmental delay, cardiac, facial, and digital anomalies.


name: osteochondrodysplasia, brachydactyly, and overlapping malformed digits


name: cortical dysplasia, complex, with other brain malformations 9


name: microcephaly 24, primary, autosomal recessive


name: ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis


name: diarrhea 10, protein-losing enteropathy type


hyperparathyroidism, transient neonatal

description: Hyperparathyroidism in an infant less than one month of age that resolves spontaneously.


cardiomyopathy, dilated, 2c

description: A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.


name: intellectual developmental disorder and retinitis pigmentosa; IDDRP


name: myasthenic syndrome, congenital, 23, presynaptic


name: myasthenic syndrome, congenital, 24, presynaptic


name: developmental and epileptic encephalopathy, 68


name: inflammatory bowel disease, immunodeficiency, and encephalopathy


name: intellectual disability, autosomal recessive 66


name: mitochondrial complex 1 deficiency, nuclear type 2


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


name: mitochondrial complex 1 deficiency, nuclear type 3


name: mitochondrial complex 1 deficiency, nuclear type 4


name: mitochondrial complex 1 deficiency, nuclear type 5


name: mitochondrial complex 1 deficiency, nuclear type 6


name: mitochondrial complex 1 deficiency, nuclear type 7


name: mitochondrial complex 1 deficiency, nuclear type 8


name: epidermodysplasia verruciformis, susceptibility to, 2


name: mitochondrial complex 1 deficiency, nuclear type 9


name: mitochondrial complex 1 deficiency, nuclear type 10


name: mitochondrial complex 1 deficiency, nuclear type 11


name: mitochondrial complex 1 deficiency, nuclear type 13


name: mitochondrial complex 1 deficiency, nuclear type 14


name: mitochondrial complex 1 deficiency, nuclear type 15


name: mitochondrial complex 1 deficiency, nuclear type 16


name: mitochondrial complex 1 deficiency, nuclear type 17


name: mitochondrial complex 1 deficiency, nuclear type 18


name: mitochondrial complex 1 deficiency, nuclear type 19


name: mitochondrial complex 1 deficiency, nuclear type 21


name: mitochondrial complex 1 deficiency, nuclear type 22


name: mitochondrial complex 1 deficiency, nuclear type 23


name: mitochondrial complex 1 deficiency, nuclear type 24


name: mitochondrial complex 1 deficiency, nuclear type 25


name: mitochondrial complex 1 deficiency, nuclear type 26


name: mitochondrial complex 1 deficiency, nuclear type 27


name: mitochondrial complex 1 deficiency, nuclear type 28


name: mitochondrial complex 1 deficiency, nuclear type 29


name: mitochondrial complex 1 deficiency, nuclear type 31


name: mitochondrial complex 1 deficiency, nuclear type 32


name: mitochondrial complex 1 deficiency, nuclear type 33


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


name: epidermodysplasia verruciformis, susceptibility to, 3


name: congenital anomalies of kidney and urinary tract 3


name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations


name: neurodegeneration, childhood-onset, with cerebellar atrophy


name: fibrosis, neurodegeneration, and cerebral angiomatosis


name: hyper-IgE recurrent infection syndrome 3, autosomal recessive


name: visual impairment and progressive phthisis bulbi


name: microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum


name: developmental and epileptic encephalopathy, 69


name: macrocephaly, acquired, with impaired intellectual development


name: spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant


name: neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia


name: intellectual developmental disorder, autosomal recessive 67


name: developmental and epileptic encephalopathy, 70


name: intellectual developmental disorder, autosomal recessive 68


name: epidermodysplasia verruciformis, susceptibility to, 4

description: An autosomal recessive condition caused by mutation(s) in the RHOH gene, encoding Rho-related GTP-binding protein RhoH. It presents in childhood and is characterized by defects in T-cell development and signaling leading to increased susceptibility to certain human papilloma viruses (HPV) that cause warty skin lesions that are unresponsive to treatment.


name: epidermodysplasia verruciformis, susceptibility to, 5


name: intellectual developmental disorder with cardiac defects and dysmorphic facies

description: A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.


name: basal ganglia calcification, idiopathic, 7, autosomal recessive


name: myasthenic syndrome, congenital, 25, presynaptic


name: lissencephaly 9 with complex brainstem malformation


name: developmental and epileptic encephalopathy, 71


name: combined oxidative phosphorylation deficiency 37


name: global developmental delay with or without impaired intellectual development


name: encephalopathy, progressive, early-onset, with episodic rhabdomyolysis


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


name: infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development


name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature


name: polymicrogyria with or without vascular-type Ehlers-Danlos syndrome


name: microcephaly, growth deficiency, seizures, and brain malformations


name: microcephaly 25, primary, autosomal recessive


name: neurodevelopmental disorder with central and peripheral motor dysfunction


name: epilepsy, idiopathic generalized, susceptibility to, 15

description: An autosomal dominant susceptibility to idiopathic generalized epilepsy-15, caused by mutation(s) in the RORB gene, encoding nuclear receptor ROR-beta. The condition is characterized by early-onset generalized seizures and may have associated developmental delay.


Coffin-Siris syndrome 8

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCC2 gene.


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


name: neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination


name: spinocerebellar ataxia, autosomal recessive 27


name: developmental and epileptic encephalopathy, 72


name: combined oxidative phosphorylation deficiency 38


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


name: intellectual developmental disorder, autosomal recessive 69


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


name: spondyloepiphyseal dysplasia, kondo-fu type


name: spondyloepimetaphyseal dysplasia with joint laxity, type 3


name: developmental and epileptic encephalopathy, 74


name: combined oxidative phosphorylation deficiency 39


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


name: intellectual developmental disorder, autosomal recessive 70


name: global developmental delay, progressive ataxia, and elevated glutamine


name: metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression


name: spastic paraplegia 80, autosomal dominant


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


name: neurodevelopmental disorder with impaired speech and hyperkinetic movements


name: encephalopathy, acute, infection-induced, susceptibility to, 9


name: developmental delay with variable intellectual impairment and behavioral abnormalities


name: developmental and epileptic encephalopathy, 75


name: neurodevelopmental disorder with or without variable brain abnormalities; NEDBA


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


name: intellectual developmental disorder with short stature and variable skeletal anomalies


name: developmental delay with or without dysmorphic facies and autism


name: developmental and epileptic encephalopathy, 76

description: An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B.


name: intellectual developmental disorder with severe speech and ambulation defects

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


name: brain abnormalities, neurodegeneration, and dysosteosclerosis


name: cerebellar, ocular, craniofacial, and genital syndrome


name: neurodevelopmental disorder with seizures and speech and walking impairment


name: generalized epilepsy with febrile seizures plus, type 10


name: arthrogryposis multiplex congenita 3, myogenic type


name: neurodevelopmental disorder with microcephaly and structural brain anomalies


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


name: congenital hypotonia, epilepsy, developmental delay, and digital anomalies


name: immunodeficiency 63 with lymphoproliferation and autoimmunity


aortic valve disease 3

description: Any aortic valve disease characterized by aortic stenosis and/or bicuspid aortic valve in which the cause of the disease is a mutation in the ROBO4 gene.


name: neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements


Noonan syndrome 11

description: Noonan syndrome caused by autosomal dominant mutation(s) in the MRAS gene, encoding Ras-related protein M-Ras.


name: holoprosencephaly 12 with or without pancreatic agenesis


name: cerebellar atrophy with seizures and variable developmental delay


name: intellectual developmental disorder, autosomal recessive 71


name: neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities


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


name: hyper-IgE recurrent infection syndrome 4, autosomal recessive


name: ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features


name: mitochondrial DNA depletion syndrome 16 (hepatic type)


name: erythrokeratodermia variabilis et progressiva 6


name: ectodermal dysplasia 15, hypohidrotic/hair type


name: hypopigmentation, organomegaly, and delayed myelination and development


description: An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the TARS1 gene, encoding threonine-tRNA ligase 1, cytoplasmic.


name: neurodevelopmental disorder with visual defects and brain anomalies


name: developmental and epileptic encephalopathy, 77


name: hepatitis, fulminant viral, susceptibility to


name: night blindness, congenital stationary, type1i


name: developmental and epileptic encephalopathy, 78


name: developmental and epileptic encephalopathy, 79


name: microangiopathy and leukoencephalopathy, pontine, autosomal dominant


name: neurodevelopmental disorder with ataxia, hypotonia, and microcephaly


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


name: neurodevelopmental disorder with cerebellar hypoplasia and spasticity


name: hypothyroidism, congenital, nongoitrous, 7


name: neurodevelopmental disorder with structural brain anomalies and dysmorphic facies


name: myopathy, congenital, progressive, with scoliosis


name: developmental and epileptic encephalopathy, 80


name: intellectual developmental disorder 60 with seizures


name: glycosylphosphatidylinositol biosynthesis defect 21


name: epilepsy, idiopathic generalized, susceptibility to, 16


name: spastic tetraplegia and axial hypotonia, progressive


name: neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities


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


name: lower urinary tract obstruction, congenital


name: spondyloepiphyseal dysplasia, nishimura type


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


noonan syndrome 12

description: Noonan syndrome caused by autosomal dominant mutation(s) in the RRAS2 gene, encoding Ras-related protein R-Ras2.


name: oculopharyngeal myopathy with leukoencephalopathy 1


name: immunodeficiency 65, susceptibility to viral infections


name: neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies


name: intellectual developmental disorder with impaired language and dysmorphic facies


name: myopathy, congenital, with structured cores and z-line abnormalities


name: myopathy, distal, 6, adult-onset, autosomal dominant


name: neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies


name: developmental and epileptic encephalopathy, 81


name: intellectual developmental disorder, autosomal recessive 72


name: hydrocephalus, congenital communicating, 1


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


name: pulmonary fibrosis and/or bone marrow failure, telomere-related, 5


name: cortical dysplasia, complex, with other brain malformations 10


name: mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6


name: intellectual developmental disorder with short stature and behavioral abnormalities


name: leukodystrophy, hypomyelinating, 19, transient infantile


name: retinitis pigmentosa 87 with choroidal involvement


name: short stature and microcephaly with genital anomalies


name: neurodevelopmental disorder with absent language and variable seizures


name: neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures


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


name: developmental and epileptic encephalopathy, 82


name: intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures


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


name: spondyloepimetaphyseal dysplasia, Isidor-Toutain type


name: neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity


name: neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies


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


name: structural brain anomalies with impaired intellectual development and craniosynostosis


name: pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures


name: neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy


name: developmental and epileptic encephalopathy, 83


name: intellectual developmental disorder with hypotonia and behavioral abnormalities


name: neutropenia, severe congenital, 8, autosomal dominant


name: neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements


name: arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum


name: spastic paraplegia 81, autosomal recessive


name: spastic paraplegia 82, autosomal recessive

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


name: mitochondrial complex 3 deficiency, nuclear type 10


name: mitochondrial complex 1 deficiency, nuclear type 34


name: congenital heart defects, multiple types, 7


name: developmental and epileptic encephalopathy, 84


name: juvenile arthritis due to defect in LACC1


name: neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation


name: spinocerebellar ataxia, autosomal recessive 28


name: respiratory papillomatosis, juvenile recurrent, congenital


name: triokinase and FMN cyclase deficiency syndrome


name: T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant


name: intellectual developmental disorder with poor growth and with or without seizures or ataxia


name: pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal


name: chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant


name: genitourinary and/or brain malformation syndrome


name: rhizomelic limb shortening with dysmorphic features


name: myopathy, congenital, with respiratory insufficiency and bone fractures


name: myopathy, congenital proximal, with minicore lesions


name: basal ganglia calcification, idiopathic, 8, autosomal recessive


name: intellectual developmental disorder, autosomal dominant 63, with macrocephaly


name: neurodevelopmental disorder with microcephaly and dysmorphic facies


name: neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies


polycystic kidney disease 4

description: A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene.


name: erythrokeratodermia variabilis et progressiva 1


name: erythrokeratodermia variabilis et progressiva 2


name: erythrokeratodermia variabilis et progressiva 3


name: erythrokeratodermia variabilis et progressiva 4


name: erythrokeratodermia variabilis et progressiva 5


name: spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy


name: ichthyosis, congenital, autosomal recessive 14


name: ichthyosis, congenital, autosomal recessive 13


name: spinocerebellar ataxia, autosomal recessive 25


name: spinocerebellar ataxia, autosomal recessive 26


name: Charcot-Marie-Tooth disease, demyelinating, type 1G

description: A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.


name: hearing loss, autosomal dominant 34, with or without inflammation


polycystic kidney disease 5

description: Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene.


name: multiple mitochondrial dysfunctions syndrome 5


name: developmental and epileptic encephalopathy, 52


name: developmental and epileptic encephalopathy, 53


name: developmental and epileptic encephalopathy, 54


name: developmental and epileptic encephalopathy, 55


name: developmental and epileptic encephalopathy, 56


name: developmental and epileptic encephalopathy, 57


name: developmental and epileptic encephalopathy, 58


name: developmental and epileptic encephalopathy, 59


name: developmental and epileptic encephalopathy, 60


name: developmental and epileptic encephalopathy, 61


name: developmental and epileptic encephalopathy, 62


name: developmental and epileptic encephalopathy, 63


name: developmental and epileptic encephalopathy, 64


name: developmental and epileptic encephalopathy, 65

description: An autosomal dominant form of developmental and epileptic encephalopathy, caused by mutation(s) in the CYFIP2 gene, encoding cytoplasmic FMR1-interacting protein 2.


spinocerebellar ataxia 47

description: A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.


erythrocytosis, familial, 5

description: Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.


name: short-rib thoracic dysplasia 19 with or without polydactyly


Coffin-Siris syndrome 6

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.


name: combined oxidative phosphorylation deficiency 45


name: combined oxidative phosphorylation deficiency 46


name: combined oxidative phosphorylation deficiency 47


name: cone-rod synaptic disorder syndrome, congenital nonprogressive


name: myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies


name: immunodeficiency 72 with autoinflammation


name: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia


name: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia


name: muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15


name: hemophagocytic lymphohistiocytosis, familial, 6


name: autoinflammation, immune dysregulation, and eosinophilia


name: intellectual developmental disorder with seizures and language delay


name: mitochondrial complex 1 deficiency, nuclear type 35


name: neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia


name: combined oxidative phosphorylation deficiency 48


name: combined oxidative phosphorylation deficiency 49


name: combined oxidative phosphorylation deficiency 50


name: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies


name: neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities


name: spastic paraplegia 83, autosomal recessive


name: myopathy, epilepsy, and progressive cerebral atrophy


name: spinal muscular atrophy, infantile, James type


name: neurodevelopmental disorder with speech impairment and dysmorphic facies


name: combined oxidative phosphorylation deficiency 51


name: mitochondrial complex 4 deficiency, nuclear type 3


name: mitochondrial complex 4 deficiency, nuclear type 4


name: mitochondrial complex 4 deficiency, nuclear type 7


name: mitochondrial complex 4 deficiency, nuclear type 8


name: mitochondrial complex 4 deficiency, nuclear type 10


name: cleft palate, proliferative retinopathy, and developmental delay


name: neurodevelopmental disorder with alopecia and brain abnormalities


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


name: mitochondrial complex 4 deficiency, nuclear type 11


name: mitochondrial complex 4 deficiency, nuclear type 12


name: mitochondrial complex 4 deficiency, nuclear type 14


name: mitochondrial complex 4 deficiency, nuclear type 15


name: mitochondrial complex 4 deficiency, nuclear type 16


name: mitochondrial complex 4 deficiency, nuclear type 17


name: mitochondrial complex 4 deficiency, nuclear type 18


name: mitochondrial complex 4 deficiency, nuclear type 19


name: mitochondrial complex 4 deficiency, nuclear type 20


name: mitochondrial complex 4 deficiency, nuclear type 21


name: neurodevelopmental disorder with seizures and brain atrophy


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


Kilquist syndrome

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


Noonan syndrome 13

description: Noonan syndrome caused by autosomal dominant mutation(s) in the MAPK1 gene, encoding mitogen-activated protein kinase 1.


description: Duane anomaly-myopathy-scoliosis syndrome is characterized by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.


name: skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome


name: congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome


name: congenital cerebellar ataxia due to RNU12 mutation

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


name: thygeson superficial punctate keratopathy

description: An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease.


Terrien marginal degeneration

description: A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism


fungal keratitis

description: Keratitis caused by fungi.


name: autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect


name: congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome


LAMA5-related multisystemic syndrome

description: A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder.


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


name: mitochondrial complex IV deficiency, nuclear-type


name: hereditary angioedema with C1Inh deficiency

description: Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.


name: acquired angioedema with C1Inh deficiency


name: monoclonal mast cell activation syndrome

description: Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected.


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


name: inflammatory bowel disease-recurrent sinopulmonary infections syndrome


RELA fusion-positive ependymoma

description: A supratentorial ependymoma characterized by a gene fusion involving ZFTA and RELA genes. It accounts for the majority of supratentorial ependymomas in children. It has an unfavorable outcome when compared to other ependymoma subtypes.


name: congenital axonal neuropathy with encephalopathy

description: A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.


name: severe combined immunodeficiency due to CD70 deficiency

description: A rare primary immunodeficiency caused by homozygous CD70 mutation. It is characterized by susceptibility to Epstein-Barr virus infection, hypogammaglobulinemia, and development of B-cell non-Hodgkin lymphomas and Hodgkin lymphomas.


name: optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome


name: SYNGAP1-related developmental and epileptic encephalopathy

description: A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD).


name: infection-related hemolytic uremic syndrome


name: developmental and epileptic encephalopathy, 73


name: congenital myopathy with reduced type 2 muscle fibers


name: atypical Fanconi syndrome-neonatal hyperinsulinism syndrome


name: early-onset calcifying leukoencephalopathy-skeletal dysplasia


name: spastic ataxia-dysarthria due to glutaminase deficiency


name: autosomal recessive extra-oral halitosis


name: primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome


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


vibratory angioedema

description: Vibratory angioedema is a rare, inherited or sporadic, urticaria characterized by localized, typically long-lasting (hours to days), initially pruritic, painful, normocutaneous or erythematous, mucosal and/or cutaneous edema which is triggered by vibration. Laryngeal snoring-induced swelling may be life-threatening.


name: overgrowth syndrome with 2q37 translocation

description: A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.


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

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


name: oral-facial-digital syndrome with short stature and brachymesophalangy

description: A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.


primary desmosis coli

description: A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.


name: congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

description: A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.


isolated congenital entropion

description: A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.


isolated foveal hypoplasia

description: A rare macular disorder characterized mostly by a variable degree of decreased visual acuity, jerk or pendular nystagmus, and typical ocular findings at imaging. The disease is usually bilateral. Rarely, nystagmus can be absent. Locally, the disease is characterized by underdeveloped foveal pit, absence of foveal pigmentation and/or foveal avascular zone, and persistence of inner retinal layers at the fovea, in absence of concomitant ocular or systemic pathology.


name: intraductal tubulopapillary neoplasm of pancreas


name: intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

description: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine and postnatal growth restriction, global developmental delay, intellectual disability, and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears, and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects, and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination, and cerebral atrophy.


name: intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

description: A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent.


name: serine biosynthesis pathway deficiency, infantile/juvenile form


name: frontonasal dysplasia-bifid nose-upper limb anomalies syndrome

description: A rare syndromic frontonasal dysplasia characterized by distinctive facial dysmorphic features including hypertelorism, almond-shaped palpebral fissures, nasal deformity with creased ridge, depressed or absent tip, and asymmetry and partial absence of nasal bones, and downturned corners of the mouth. Additional reported manifestations are limb anomalies (e. g. Poland anomaly, transverse limb agenesis, and anomalies of the hands and feet, such as camptodactyly, oligodactyly, clinodactyly, and syndactyly), frontonasal encephalocele, choanal atresia, congenital renal/cardiac malformations, and corpus callosum agenesis.


name: microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome


name: diaphragmatic hernia-short bowel-asplenia syndrome

description: A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.


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.


name: PUM1-associated developmental disability-ataxia-seizure syndrome


name: myeloid/lymphoid neoplasm associated with JAK2 rearrangement

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


name: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder


name: linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies


name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome


17q24.2 microdeletion syndrome

description: A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.


name: male infertility due to acephalic spermatozoa


name: dermoid or epidermoid cyst of the central nervous system

description: A rare congenital tumor characterized by a benign cyst with epithelial and epidermoid components, originating from embryologic displacement and ectopic growth of ectodermal tissue in the central nervous system. In contrast to epidermoid cysts, dermoid cysts also contain dermis and skin appendages. Most common location is the lumbosacral region, as well as the cerebellopontine angle and parasellar area for intracranial lesions. Clinical presentation depends on the location and size of the tumor and includes pain, muscle weakness, motor and sensory disturbances, and incontinence for intraspinal lesions, and intracranial hypertension, gait disturbances, cranial nerve dysfunction, and visual deficits for intracranial tumors. The cysts may rupture and cause chemical meningitis.


name: progressive dementia with neuroserpin inclusion bodies


9q21.13 microdeletion syndrome

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


name: PLG-related hereditary angioedema with normal C1inh


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.


pustular pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum characterized by multiple painful, sterile pustules with a surrounding erythematous halo, predominantly occurring on the trunk and extensor surfaces of the limbs, and potentially persisting for months. Histopathology shows a dermal neutrophilic infiltrate and subcorneal neutrophilic micropustules. The condition is commonly associated with inflammatory bowel disease.


bullous pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by grouped vesicles that rapidly spread and coalesce to form large bullae, which evolve into ulcerations that have an erythematous peripheral halo and central necrosis, mainly affecting the upper limbs and face. Lymphoproliferative diseases are frequently associated, thus prognosis is often compromised.


vegetative pyoderma gangrenosum

description: A rare subtype of pyoderma gangrenosum disease characterized by a solitary, erythematous, ulcerated plaque, which lacks the violaceous border typically present in classic pyoderma gangrenosum, usually affecting individuals who are otherwise healthy. Histologically, the lesion presents a central layer containing neutrophilic inflammation, surrounded by a palisade of histiocytes, which are rimmed by a lymphocytic infiltrate. In comparison with the other variants of pyoderma gangrenosum, this subtype usually shows a good response to less aggressive treatments and underlying systemic disorders are less frequently associated. It is considered the most benign and uncommon clinical variant of pyoderma gangrenosum.


name: atypical hemolytic uremic syndrome with complement gene abnormality


name: streptococcus pneumoniae-associated hemolytic uremic syndrome


name: congenital primary megaureter, refluxing and obstructed form


name: fibrohistiocytic inflammatory pseudotumor of the liver

description: A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with fibrohistiocytic infiltration (including xanthogranulomatous inflammation, multinucleated giant cells, and neutrophilic infiltration), typically localized in the peripheral hepatic parenchyma. Presentation may be of non-specific symptoms (fever, malaise, and abdominal pain) or as an incidental finding.


name: lymphoplasmacytic inflammatory pseudotumor of the liver

description: A subtype of inflammatory pseudotumor of the liver characterized by a benign, well-circumscribed tumor with diffuse lymphoplasmacytic infiltration with histological features of IgG4-related disease (numerous IgG4-positive plasma cells, prominent eosinophils, stromal fibrosis, fibroblastic proliferations and, frequently, obliterative phlebitis), and that is likely located around the hepatic hilum. Most often it is discovered as an incidental finding.


early-onset familial hypoaldosteronism

description: A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low.


late-onset familial hypoaldosteronism

description: A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.


name: Duane retraction syndrome with congenital deafness

description: A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome.


acute bilirubin encephalopathy

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


chronic bilirubin encephalopathy

description: A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.


name: localized dystrophic epidermolysis bullosa

description: A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance.


name: TRIM22-related inflammatory bowel disease

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene.


ALPI-related inflammatory bowel disease

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene.


name: multisystem inflammatory syndrome in children and adults


FOXG1 syndrome

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


seronegative autoimmune hepatitis

description: A form of autoimmune hepatitis characterized by the features of classic autoimmune hepatitis (i. e. clinical presentation as acute or chronic cryptogenic hepatitis, interface hepatitis on histological examination, elevated serum aspartate aminotransferase and alanine aminotransferase levels, hypergammaglobulinemia/elevated immunoglobulin G, therapeutic response to corticosteroids) in the absence of serum autoantibodies. Clinical manifestations include fatigue, malaise, arthralgia, jaundice, at later stages also signs of advanced chronic liver disease, such as spider nevi, caput medusae, splenomegaly, ascites, and palmar erythema. Presence of concurrent autoimmune diseases is frequently observed.


name: furuncular myiasis due to Dermatobia hominis


name: furuncular myiasis due to Cordylobia anthropophaga


name: furuncular myiasis due to Cordylobia rodhaini


name: POMGNT2-related limb-girdle muscular dystrophy R24


name: calpain-3-related limb-girdle muscular dystrophy D4


name: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

description: A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported.


name: congenital autosomal recessive small-platelet thrombocytopenia

description: A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.


acute mast cell leukemia

description: A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor.


chronic mast cell leukemia

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