self-limited familial neonatal epilepsy

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


systemic monochloroacetate poisoning

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

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


name: metopic ridging-ptosis-facial dysmorphism syndrome


thymus gland disorder, non-human animal

description: Thymus gland disorder that occurs in non-human animals.


name: sinoatrial node dysfunction and deafness

description: Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.


vitiligo, horse

description: Vitiligo that occurs in horse.


name: cleft palate colobomata radial synostosis deafness


name: hemangiomatosis, cutaneous, with associated features


name: arthrogryposis, distal, with impaired proprioception and touch


phenylketonuria, pig

description: Phenylketonuria that occurs in pig.


primary bone lymphoma

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


Bruck syndrome

description: Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures.


name: childhood precursor T-lymphoblastic lymphoma/leukemia

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


uterine cervix leukoplakia

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


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


name: congenital stationary night blindness autosomal dominant 3

description: A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.


testis sarcoma

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


name: autosomal dominant rhegmatogenous retinal detachment

description: Autosomal dominant form of rhegmatogenous retinal detachment.


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

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


leishmaniasis, diffuse cutaneous

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


osteogenesis imperfecta type 4

description: Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).


name: intermediate cell type ciliary body melanoma

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


lymph node tuberculosis

description: Tuberculosis of the lymph node.


name: immunodeficiency 82 with systemic inflammation

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


congenital myasthenic syndrome 20

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.


ocular siderosis

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


name: familial acute necrotizing encephalopathy

description: Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen.


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


vagina sarcoma

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


metaphyseal anadysplasia

description: Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.


name: growth delay due to insulin-like growth factor I resistance

description: Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).


amyotrophic lateral sclerosis type 15

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene.


name: corneal dystrophy, posterior polymorphous, 4


name: communicating congenital bronchopulmonary-foregut malformation


acute idiopathic urticaria

description: Acute form of idiopathic urticaria.


name: lissencephaly 7 with cerebellar hypoplasia


name: dwarfism, intellectual disability, and eye abnormality


dartoic leiomyoma

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


name: post-infectious disorder, non-human animal

description: Post-Infectious disorder that occurs in non-human animals.


punctate inner choroidopathy

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


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


mosaic variegated aneuploidy syndrome 2

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


premature ovarian failure 10

description: Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488).


camptobrachydactyly

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


congenital mitral valve agenesis

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


name: hemolytic anemia due to glutathione reductase deficiency

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


name: muscular dystrophy-dystroglycanopathy, type C


neurosyphilis

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


19p13.3 microduplication syndrome

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


orofaciodigital syndrome type 13

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


staphylococcal toxic-shock syndrome

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


immunodeficiency, common variable, 12

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


Mycobacterium xenopi infection

description: A disease caused by infection with Mycobacterium xenopi.


chronic closed-angle glaucoma

description: Chronic form of angle-closure glaucoma.


description: Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.


LAMA2-related muscular dystrophy

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


ring chromosome 17

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


syphilitic meningitis

description: An infectious meningitis caused by infection with Treponema.


malignant neoplasm of endocervix

description: A cancer that involves the endocervix.


Rickettsia helvetica spotted fever

description: A disease caused by infection with Rickettsia helvetica.


name: congenital hereditary endothelial dystrophy of cornea

description: A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.


Duane retraction syndrome 2

description: Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.


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.


Leber congenital amaurosis 3

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene.


endemic typhus

description: A bacterial infection caused by Rickettsia typhi.


thymus lipoma

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


glucose metabolism disease

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


name: hypoinsulinemic hypoglycemia and body hemihypertrophy


glycerol metabolism disease

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


nephronophthisis 18

description: Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.


AA amyloidosis, non-human animal

description: AA amyloidosis that occurs in non-human animals.


name: junctional epidermolysis bullosa Herlitz type

description: Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.


venous thoracic outlet syndrome

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


dihydropyrimidinuria

description: Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.


name: encephalopathy due to defective mitochondrial and peroxisomal fission 2


Crigler-Najjar syndrome type 2

description: Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.


injection anthrax

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


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


Akaba Hayasaka syndrome

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


phrynoderma

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


isolated megalencephaly

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


pontocerebellar hypoplasia type 2C

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.


infantile mercury poisoning

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


biliary hypoplasia

description: A syndromic disease characterized by a small ductal system and reduction in the number of interlobular bile ducts.


hereditary spastic paraplegia 43

description: Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.


name: carnitine palmitoyl transferase 1A deficiency

description: Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.


acinar dysplasia

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


malignant histiocytosis, domestic cat

description: Malignant histiocytosis that occurs in domestic cat.


PCARE-related retinopathy

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


dicarboxylic aminoaciduria

description: Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.


name: Charcot-Marie-Tooth disease axonal type 2U

description: Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.


mitochondrial DNA maintenance syndrome

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


name: endometrioid stromal sarcoma of the cervix

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


oculopharyngeal muscular dystrophy 1

description: An autosomal dominant disorder caused by mutations in the PABPN1 gene, encoding polyadenylate-binding protein 2. The condition is characterized by progressive ptosis, dysphagia and weakness of the muscles of the face, neck, and extraocular muscles.


name: mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

description: Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene.


name: X-linked intellectual disability, van Esch type

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


thrombocytopenia, non-human animal

description: Thrombocytopenia that occurs in non-human animals.


name: MGAT2-congenital disorder of glycosylation

description: MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).


lacrimal system cancer

description: A cancer that involves the lacrimal apparatus.


skin appendage disorder

description: A disease that involves the cutaneous appendage.


name: congenital dyserythropoietic anemia type 1

description: Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.


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


apical myocardial infarction

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


chromosome inversion disorder

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


prostate sarcoma

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


lymphatic malformation

description: Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.


name: facial paresis, hereditary congenital, 2


name: neurodegeneration with brain iron accumulation 8


nevoid basal cell carcinoma syndrome

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


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

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


name: pyruvate carboxylase deficiency, infantile form

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


malignant germ cell tumor

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


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


name: Tessadori-Van Haaften neurodevelopmental syndrome 4


benign neoplasm of epiglottis

description: A benign neoplasm that involves the epiglottis.


osteopetrosis, non-human animal

description: Osteopetrosis that occurs in non-human animals.


name: inherited fatty acid metabolism disorder

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


bacterial urinary tract infection

description: A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.


name: hereditary hemorrhagic telangiectasia type 3


name: short stature-brachydactyly-obesity-global developmental delay syndrome


ichthyosis hystrix of Curth-Macklin

description: Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).


name: developmental delay with autism spectrum disorder and gait instability

description: Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.


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

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


linear scleroderma

description: A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area.


hereditary spastic paraplegia 16

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


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy


chorioamnionitis

description: A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.


Wilson disease, pig

description: Wilson disease that occurs in pig.


name: hemolytic anemia due to erythrocyte adenosine deaminase overproduction

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


PAGOD syndrome

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


erythrocyte disorder

description: A disease or disorder that involves the erythrocyte.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

description: A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.


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


hyperphosphatemia, non-human animal

description: Hyperphosphatemia that occurs in non-human animals.


pituitary stalk meningioma

description: A meningioma that affects the pituitary stalk.


glucocorticoid-remediable aldosteronism

description: Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.


name: parasitic ectoparasitic infectious disease

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


Rafiq syndrome

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.


name: intellectual disability, autosomal dominant 2

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.


name: combined oxidative phosphorylation defect type 24

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene.


name: autosomal recessive nonsyndromic hearing loss 47

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


name: X-linked intellectual disability, Schimke type

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


cauda equina syndrome, non-human animal

description: Cauda equina syndrome that occurs in non-human animals.


osteoporosis, non-human animal

description: Osteoporosis that occurs in non-human animals.


diabetes mellitus, dog

description: Diabetes mellitus that occurs in dog.


non-secretory plasma cell myeloma

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


Alzheimer disease 16

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


uterine body mixed cancer

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


acquired polycythemia vera

description: Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.


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


name: Charcot-Marie-Tooth disease axonal type 2F

description: Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.


name: neuromuscular disorder, congenital, with dysmorphic facies


name: neuronopathy, distal hereditary motor, autosomal dominant 1

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


pontocerebellar hypoplasia type 7

description: Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.


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


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


name: intellectual disability, autosomal recessive 64


name: autosomal recessive nonsyndromic hearing loss 97

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene.


name: microcephalic primordial dwarfism, Alazami type

description: Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.


rous sarcoma

description: A fibrosarcoma, originally observed in a Plymouth Rock hen, now thought to be an expression of infection by certain viruses of the avian leukosis-sarcoma complex in the family


schizoid personality disorder

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


idiopathic panuveitis

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


name: mitochondrial complex 4 deficiency, nuclear type 18


name: mixed phenotype acute leukemia, B/myeloid

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


acute papillary necrosis

description: Acute form of kidney papillary necrosis.


Baraitser-Winter syndrome 1

description: Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.


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


name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1

description: An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.


name: lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster


name: partial deletion of the long arm of chromosome 21


description: Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.


name: X-linked intellectual disability-cerebellar hypoplasia syndrome

description: X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.


pyruvate dehydrogenase deficiency, dog

description: Pyruvate dehydrogenase deficiency that occurs in dog.


isolated congenital syngnathia

description: Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis.


name: radial ray hypoplasia-choanal atresia syndrome

description: Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.


endocardial fibroelastosis, horse

description: Endocardial fibroelastosis that occurs in horse.


name: hemiplegic migraine-developmental and epileptic encephalopathy spectrum

description: A spectrum in which individuals may present with phenotypes ranging from hemiplegic migraines without epilepsy to developmental and epileptic encephalopathy with or without episodic hemiplegia or other forms of paresis. Symptoms and severity may vary within families.


herpes simplex virus gingivostomatitis

description: Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents.


omphalocele, non-human animal

description: Omphalocele that occurs in non-human animals.


hypogonadism, non-human animal

description: Hypogonadism that occurs in non-human animals.


name: testicular regression syndrome, non-human animal

description: Testicular regression syndrome that occurs in non-human animals.


hereditary spastic paraplegia 27

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.


name: autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

description: Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.


name: intellectual disability, autosomal recessive 54

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene.


pleuro-pericardial cyst

description: Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur.


bone dysplasia, Azouz type

description: Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet.


name: short limb dwarf lethal colavita kozlowski type


megacolon, horse

description: Megacolon that occurs in horse.


description: Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.


name: Alzheimer disease without neurofibrillary tangles


eye accommodation disease

description: Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies.


name: Bernard-Soulier syndrome, type A2, autosomal dominant

description: A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.


childhood malignant kidney neoplasm

description: A malignant neoplasm that affects the kidney and occurs in childhood.


name: disorder of peptide and amine metabolism

description: An inherited metabolic disease that has its basis in the disruption of peptide and/or amine metabolic process.


name: colorectal cancer, susceptibility to, on chromosome 15


erythrocytosis, familial, 5

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


late-onset focal dermal elastosis

description: Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits.


inherited thrombophilia

description: An instance of thrombophilia that is inherited.


vaginal leiomyoma

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


mild Canavan disease

description: Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.


name: autosomal recessive nonsyndromic hearing loss 68

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.


neuroschistosomiasis

description: Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2)


sheep lung adenocarcinoma

description: Adenocarcinoma arising from the lung of a sheep.


name: congenital stationary night blindness 1B

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.


cancer-related condition

description: A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome).


name: RNASEH2C-related type 1 interferonopathy

description: Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.


hyperthyroxinemia

description: Abnormally elevated thyroxine level in the blood.


name: amelogenesis imperfecta, hypomaturation type, IIa6


name: neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures


Leber congenital amaurosis 8

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.


name: diarrhea-vomiting due to trehalase deficiency

description: This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.


Arenaviridae infectious disease

description: Virus diseases caused by the arenaviridae.


sphingolipidosis

description: An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.


hereditary palmoplantar keratoderma

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


Meier-Gorlin syndrome 2

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.


spermatogenic failure, X-linked, 2

description: Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.


name: AKT2-related familial partial lipodystrophy


name: mammary fibrocystic disease, non-human animal

description: Mammary fibrocystic disease that occurs in non-human animals.


cone dystrophy 3

description: Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.


name: familial Mediterranean fever, autosomal dominant


name: developmental and epileptic encephalopathy, 58


description: Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients.


name: mitochondrial substrate carrier disorder


name: leukemia, acute myeloid, susceptibility to

description: An inherited susceptibility or predisposition to developing leukemia, acute myeloid.


name: autosomal dominant nonsyndromic hearing loss 43

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


pityriasis rotunda

description: Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda.


name: mitochondrial complex 1 deficiency, nuclear type 8


name: chromosome 22q11.2 microduplication syndrome

description: The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.


central core myopathy, horse

description: Central core myopathy that occurs in horse.


Elsahy-Waters syndrome

description: An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.


name: intellectual disability, autosomal dominant 41

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.


Ho-Kaufman-McAlister syndrome

description: Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet


hypochondroplasia

description: Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.


Bruck syndrome 2

description: Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.


name: neurodevelopmental disorder with poor growth and behavioral abnormalities


name: familial idiopathic inflammatory myopathy

description: An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause.


name: mitochondrial complex III deficiency nuclear type 7

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.


central nervous system hibernoma

description: A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system.


name: neurodevelopmental disorder with alopecia and brain abnormalities


congenital candidiasis

description: A fungal infection by any of the Candida species that is present at birth.


benign neoplasm of spleen

description: A benign neoplasm that involves the spleen.


name: mitochondrial complex III deficiency nuclear type 9

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.


O'nyong'nyong fever

description: An disease or disorder caused by infection with O'nyong-nyong virus.


acquired angioedema type 1

description: Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


familial anetoderma

description: Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder.


name: erosive pustular dermatosis of the scalp

description: Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia.


plague

description: Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis.


white heifer disease

description: A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile.


Aicardi-Goutieres syndrome 3

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.


name: recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome

description: Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.


spastic ataxia 3

description: Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.


name: SSR4-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4(Xq28).


rhinosporidiosis

description: Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi.


name: leber congenital amaurosis, domestic cat

description: Leber congenital amaurosis that occurs in domestic cat.


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


congenital muscular dystrophy

description: A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.


name: stenosis or atrophy of the coronary ostium


radial nerve lesion

description: A peripheral nerve lesion that involves the radial nerve.


name: multiple congenital anomalies/dysmorphic syndrome-intellectual disability


name: lethal congenital contracture syndrome 9

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.


name: myasthenia gravis with thymus hyperplasia


atherosclerosis, pig

description: Atherosclerosis that occurs in pig.


inborn disorder of bilirubin metabolism

description: An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome.


Brugada syndrome 6

description: Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene.


name: keratoderma-ichthyosis-deafness syndrome, autosomal recessive


hereditary spastic paraplegia 42

description: Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.


name: congenital muscular dystrophy with hyperlaxity

description: Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.


Huntington disease-like 1

description: Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene.


name: periodic fever syndrome, non-human animal

description: Periodic fever syndrome that occurs in non-human animals.


ephemeral fever

description: An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness.


primary ciliary dyskinesia 24

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene.


multicentric reticulohistiocytosis

description: Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis.


cataract 41

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene.


tauopathy

description: Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration.


name: autoimmune thrombocytopenia, non-human animal

description: Autoimmune thrombocytopenia that occurs in non-human animals.


binocular vision disease

description: Any inability to efficiently utilize and/or sustain binocular vision.


name: childhood round cell sarcoma with EWSR1-non-ETS fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood.


name: bladder exstrophy-epispadias-cloacal extrophy complex

description: An anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia.


relapsing fever

description: Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex.


name: spondyloepimetaphyseal dysplasia, Shohat type

description: A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.


fish melanoma

description: Melanoma that occurs in a fish.


Brucella canis brucellosis

description: A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies 2

description: Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.


extensively drug-resistant tuberculosis

description: A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid.


name: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)

description: A precursor lymphoid neoplasm which is composed of B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.


bone fibrosarcoma

description: A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.


chromosome 19q13.11 deletion syndrome

description: The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.


distal trisomy 11q

description: Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.


name: breast-ovarian cancer, familial, susceptibility to, 1

description: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene.


primary ciliary dyskinesia 19

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.


sulfur mustard poisoning

description: A poisoning that is caused by exposure to sulfur mustard. The effects of mustard poisoning may be local, systemic, or both, depending on environmental conditions, exposed organs, and the extent and duration of exposure. The toxic effects of mustard include inhibition of mitosis, NAD depletion, decreased tissue respiration and finally cell death.


Kniest dysplasia

description: Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).


name: microcephalic primordial dwarfism due to RTTN deficiency

description: Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.


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


name: macular dystrophy with or without cone dysfunction


name: catecholaminergic polymorphic ventricular tachycardia 4

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.


fetishistic disorder

description: A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects (the "fetish").


osteogenesis imperfecta type 5

description: Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).


testicular infarct

description: Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis.


Feingold syndrome type 1

description: Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.


Weil's disease

description: A jauncice caused by severe leptospirosis.


thalassemia

description: An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.


name: epilepsy, familial focal, with variable foci 4


idiopathic disease

description: A disease or disorder for which the cause is of uncertain or unknown.


name: developmental and epileptic encephalopathy, 16


benign neoplasm of sweat gland

description: A benign neoplasm that involves the sweat gland.


monomelic amyotrophy

description: Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.


name: immunodeficiency with defective T-cell response to interleukin 1


extraskeletal Ewing sarcoma

description: A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.


name: autosomal recessive spinocerebellar ataxia 10

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.


acyl-CoA dehydrogenase 9 deficiency

description: A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.


name: autoimmune disease, multisystem, infantile-onset, 3


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.


name: ectodermal dysplasia, trichoodontoonychial type

description: Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.


boutonneuse fever

description: An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii.


name: intellectual disability, anterior maxillary protrusion, and strabismus


name: primary pigmented nodular adrenocortical disease

description: A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).


cortical senile cataract

description: A senile cataract that involves the lens cortex.


name: arrhythmogenic right ventricular cardiomyopathy, non-human animal

description: Arrhythmogenic right ventricular cardiomyopathy that occurs in non-human animals.


name: straddling and/or overriding mitral valve


amelogenesis imperfecta type 1A

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.


description: STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.


multiple endocrine neoplasia type 1

description: Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.


name: neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder


name: developmental and epileptic encephalopathy, 5

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.


Teebi-Shaltout syndrome

description: Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.


chromosome 16p11.2 duplication syndrome

description: Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.


TWIST1-related craniosynostosis

description: Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.


name: cleft palate cardiac defect ectrodactyly


type 1 interferonopathy

description: Conditions in which increased type 1 interferon signaling leads to autoimmune and neurological disorders. These disorders are caused by variants in genes involved in nucleic acid metabolism, sensing, and the innate immune response.


Medich giant platelet syndrome

description: Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.


name: lissencephaly with cerebellar hypoplasia type E

description: Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia.


name: microphthalmia, isolated, with coloboma 8


nevus of Ito

description: Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter.


frontonasal dysplasia, non-human animal

description: Frontonasal dysplasia that occurs in non-human animals.


CAPN5-related vitreoretinopathy

description: An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.


thyroiditis, domestic guinea pig

description: Thyroiditis that occurs in domestic guinea pig.


lymphomatoid papulosis

description: Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features.


name: multiple congenital anomalies-neurodevelopmental syndrome, X-linked


name: cerebellar dysfunction with variable cognitive and behavioral abnormalities

description: Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).


name: infantile osteopetrosis with neuroaxonal dysplasia

description: This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.


thrombocytopenia, domestic cat

description: Thrombocytopenia that occurs in domestic cat.


white sponge nevus 1

description: Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene.


corneal infection

description: A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering.


Bailey-Bloch congenital myopathy

description: Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.


congenital cataract-ichthyosis syndrome

description: Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive.


glucocorticoid resistance, dog

description: Glucocorticoid resistance that occurs in dog.


name: Bunyaviridae infectious disease, non-human animal

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


name: gastrointestinal defect and immunodeficiency syndrome


name: non-neonatal early infantile epileptic encephalopathy

description: Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.


name: aniridia-ptosis-intellectual disability-familial obesity syndrome

description: Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.


amelogenesis imperfecta type 1E

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene.


name: neuronopathy, distal hereditary motor, autosomal dominant

description: Autosomal dominant form of distal hereditary motor neuropathy.


name: marcothrombocytopenia with mitral valve insufficiency

description: Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.


name: deafness conductive stapedial ear malformation facial palsy


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.


hyperekplexia 3

description: Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.


name: cerebroretinal microangiopathy with calcifications and cysts 2

description: Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene.


treatment-refractory schizophrenia

description: Schizophrenia which does not respond to commonly used treatments.


auriculocondylar syndrome 2

description: Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.


congenital tricuspid stenosis

description: Tricuspid valve stenosis that is present at birth.


brachydactyly, dog

description: Brachydactyly that occurs in dog.


spinal dermal sinus

description: A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery.


name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15


testicular monophasic choriocarcinoma

description: A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent.


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.


mycosis fungoides, domestic cat

description: Mycosis fungoides that occurs in domestic cat.


methamphetamine-induced psychosis

description: Abnormal mental state resulting from an abuse of methamphetamine


name: developmental and epileptic encephalopathy, 27

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.


disease related to transplantation

description: Disease that occurs as a consequence of immunosuppression in a recipient of a solid organ or bone marrow transplant, or as a consequence of the transplantation.


name: autosomal dominant nonsyndromic hearing loss 23

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.


description: X-linked intellectual disability-precocious puberty-obesity syndrome is characterized by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked.


name: SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss

description: A neurodevelopmental disorder related to biallelic variants in SPATA5L1 and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly.


epithelioid trophoblastic tumor

description: An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy.


Alkhurma hemorrhagic fever

description: A disease caused by infection with Alkhumra hemorrhagic fever virus.


acquired adult-onset immunodeficiency

description: A acquired immunodeficiency that occurs in an adult.


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


autoimmune retinopathy

description: An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss.


name: COG1-congenital disorder of glycosylation

description: COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.


parkinsonism with polyneuropathy

description: An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the UQCRC1 gene, encoding cytochrome b-c1 complex subunit 1, mitochondrial.


name: immunodeficiency 106, susceptibility to viral infections


name: spastic tetraplegia and axial hypotonia, progressive


name: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations


ectothrix infectious disease

description: A dermatophyte infection of the hair that infects the hair surface.


oculo-palato-cerebral syndrome

description: Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.


name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

description: Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.


benign dermal neurilemmoma

description: A benign schwannoma occurring in the skin.


hereditary retinoblastoma

description: An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.


name: camptodactyly syndrome, Guadalajara type 2

description: Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.


name: alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

description: This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.


Charcot-Marie-Tooth disease type 4G

description: Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.


name: leukoencephalopathy, hereditary diffuse, with spheroids 2


systemic polyarteritis nodosa

description: Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement.


urolithiasis, long-tailed chinchilla

description: Urolithiasis that occurs in long-tailed chinchilla.


name: congenital anomaly of the inferior vena cava


name: familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation


name: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome


central pontine myelinolysis

description: A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly.


Charcot-Marie-Tooth disease type 2D

description: Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.


description: A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).


name: cardiac septal defects with coarctation of the aorta


hereditary spastic paraplegia 56

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.


name: intellectual disability, autosomal dominant 48


Alexander disease type II

description: Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.


loose anagen syndrome

description: Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.


femoral neuropathy

description: Neuropathy of the femoral nerve.


retinitis pigmentosa 31

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.


cryptorchidism, goat

description: Cryptorchidism that occurs in goat.


Sunflower syndrome

description: A rare, photosensitive epileptic disorder characterized by highly stereotyped seizures. During these seizures, individuals with Sunflower syndrome turn toward a bright light while simultaneously waving one hand in front of their eyes. This unique behavior is coupled with abrupt lapses in consciousness.


name: congenital cystic eye multiple ocular and intracranial anomalies


name: developmental and epileptic encephalopathy, 52


secondary hypertension

description: High blood pressure caused by an underlying medical condition.


congenital myasthenic syndrome 3B

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.


hydatidiform mole, recurrent, 2

description: Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.


name: subepithelial mucinous corneal dystrophy

description: Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.


name: dystonia 37, early-onset, with striatal lesions


cleft palate, chicken

description: Cleft palate that occurs in chicken.


Charcot-Marie-Tooth disease type 4C

description: Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.


craniosynostosis 2

description: A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.


neoplasm of major salivary gland

description: A neoplasm (disease) that involves the major salivary gland.


name: developmental and epileptic encephalopathy, 30

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.


brain stem infarction

description: Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury.


adenylosuccinate lyase deficiency

description: Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.


name: hypogonadotropic hypogonadism 5 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.


name: hypogonadotropic hypogonadism 18 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene.


neonatal thrombocytopenia

description: A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn.


name: Zellweger-like syndrome without peroxisomal anomalies

description: An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.


pneumococcal infection

description: Infections with bacteria of the species streptococcus pneumoniae.


familial partial epilepsy

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


canine cutaneous t-cell lymphoma

description: Cutaneous T-cell lymphoma occurring in a dog.


premature ovarian failure 6

description: Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene.


name: micromelic bone dysplasia with cloverleaf skull


name: megalencephalic leukoencephalopathy with subcortical cysts

description: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.


3MC syndrome 1

description: Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.