| auto-brewery syndrome (MONDO:0971031) |
An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. |
| neuronal ceroid lipofuscinosis, CLN8, dog (MONDO:1010894) |
Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the CLN8 gene. |
| cone-rod dystrophy, PDE6B-related dog (MONDO:1011266) |
Any cone-rod dystrophy that occurs in dogs due to a mutation in the PDE6B gene. |
| glycogen storage disease, GAA-related, domestic cat (MONDO:1010851) |
Any glycogen storage disease that occurs in cats due to a mutation in the GAA gene. |
| Niemann-Pick disease, NPC1-related, cattle (MONDO:1010875) |
A lysosomal storage disease characterised by impaired unesterified cholesterol and sphingomyelin transport and metabolism, resulting in the accumulation of un-esterified cholesterol and glycosphingolipids within late endosomes and lysosomes that occurs in cattle due to a mutation in the NPC1 gene. Affected animals present with hepatosplenomegaly, neurological degeneration and premature death. |
| microcephaly, seizures, and developmental delay (MONDO:0013254) |
A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has material basis in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. |
| oculocutaneous albinism, SLC45A2-related, dog (MONDO:1011039) |
Any oculocutaneous albinism that occurs in dogs due to a mutation in the SLC45A2 gene. |
| neuronal ceroid lipofuscinosis, PPT1-related, sheep (MONDO:1010891) |
Any neuronal ceroid lipofuscinosis that occurs in sheep due to a mutation in the PPT1 gene created using CRISPR/Cas9 gene editing. |
| mucopolysaccharidosis, ARSB-related, dog (MONDO:1010869) |
Any mucopolysaccharidosis that occurs in dogs due to a mutation in the ARSB gene. |
| GM1 gangliosidosis GLB1-related, sheep (MONDO:1010848) |
A lysosomal storage disease in sheep due to a mutation in the GLB1 gene. There is a buildup of GM1 gangliosides in tissues due to a lack of the enzyme beta-galactosidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age. |
| neuronal ceroid lipofuscinosis, CLN5-related, dog (MONDO:1010887) |
Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the CLN5 gene. |
| polycystic kidney disease, PKD2-related, pig (MONDO:1011106) |
Any polycystic kidney disease that occurs in pigs due to a mutation in the PKD2 gene created using gene editing. |
| glycogen storage disease II, sheep (MONDO:1010853) |
A lysosomal storage disease in which there is a buildup of glycogen due to a lack of the enzyme alpha-glucosidase in sheep. |
| glycogen storage disease, GAA-related, cattle (MONDO:1010852) |
Any glycogen storage disease that occurs in cattle due to a mutation in the GAA gene. |
| achromatopsia, CNGB3-related, cattle (MONDO:1011257) |
Any achromatopsia that occurs in cattle due to a mutation in the CNGB3 gene. |
| developmental and epileptic encephalopathy, 16 (MONDO:0014133) |
A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has material basis in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. |
| mitral valve insufficiency (MONDO:1030008) |
A mitral valve disorder characterized by incomplete valve closure. |
| glycogen storage disease, GAA-related, dog (MONDO:1010850) |
Any glycogen storage disease that occurs in dogs due to a mutation in the GAA gene. |
| GM2 gangliosidosis, HEXB-related dog (MONDO:1010883) |
A lysosomal storage disease in dogs due to a mutation in the HEXB gene. There is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age. |
| anti-NXP2 dermatomyositis (MONDO:1010084) |
A dermatomyositis characterized by the presence of anti-NXP2 autoantibodies. |
| Niemann-Pick disease, type C, dog (MONDO:1010873) |
A lysosomal storage disease characterised by impaired unesterified cholesterol and sphingomyelin transport and metabolism, resulting in the accumulation of un-esterified cholesterol and glycosphingolipids within late endosomes and lysosomes that occurs in dogs. Affected animals present with hepatosplenomegaly, neurological degeneration and premature death. |
| Moynahan syndrome (MONDO:0008755) |
A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated. |
| glaucoma, LTBP2-related, domestic cat (MONDO:1011275) |
Any glaucoma that occurs in cats due to a mutation in the LTBP2 gene. |
| PDE6C-related retinopathy (MONDO:1040028) |
Any retinopathy caused by variants in the PDE6C gene. |
| ataxic diplegic cerebral palsy (MONDO:0700283) |
A mixed cerebral palsy that is characterized by pathogenetic and clinical presentations of both ataxic cerebral palsy and spastic diplegia. In ataxic diplegic children, all extremities are neurologically affected. There is more voluntary control in the upper extremities, spasticity and stiffness in the lower extremities that affect children’s ability to roll, sit, stand, and ambulate; as well as signs and symptoms of loss of balance and coordination. |
| glycogen storage disease, PYGM-related, sheep (MONDO:1010704) |
Any glycogen storage disease that occurs in sheep due to a mutation in the PYGM gene. |
| neuronal ceroid lipofuscinosis, CLN6-related, dog (MONDO:1010879) |
Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the CLN6 gene. |
| steroid-responsive encephalopathy associated with autoimmune thyroiditis (MONDO:0019385) |
Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare, acquired, neurological disease characterized by encephalopathy associated with elevated antithyroid antibodies, in the absence of other causes. Clinical presentation varies from minor cognitive impairment to status epilepticus and coma, and frequently includes seizures, confusion, speech disorder, memory impairment, ataxia and psychiatric manifestations. |
| GM1 gangliosidosis, GLB1-related, dog (MONDO:1010845) |
A lysosomal storage disease in dogs due to a mutation in the GLB1 gene. There is a buildup of GM1 gangliosides in tissues due to a lack of the enzyme beta-galactosidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age. |
| mucopolysaccharidosis, GNS-related, goat (MONDO:1010868) |
Any mucopolysaccharidosis that occurs in goats due to a mutation in the GNS gene. |
| mucopolysaccharidosis, GUSB-related, domestic cat (MONDO:1010872) |
Any mucopolysaccharidosis that occurs in cats due to a mutation in the GUSB gene. |
| eating seizures (MONDO:0015645) |
A rare reflex epilepsy characterized by in most cases complex partial seizures triggered by different components of eating, such as the sight of food, proprioceptive, olfactory or gustatory sensations, chewing, salivation, and gastric distension after food intake. The seizures may be idiopathic or associated with symptomatic localization-related epilepsies. |
| syndromic retinal atrophy, BBS7-related, Rhesus monkey (MONDO:1011283) |
Any syndromic retinal atrophy in Rhesus monkeys due to a mutation in the BBS7 gene. |
| progressive retinal atrophy, BBS4-related, dog (MONDO:1011277) |
Any progressive retinal atrophy in dogs due to a mutation in the BBS4 gene. |
| leukocyte adhesion deficiency, ITGB2-related, dog (MONDO:1010727) |
Any leukocyte adhesion deficiency that occurs in dogs due to a mutation in the ITGB2 gene. |
| TTLL5-related retinopathy (MONDO:1040038) |
Any retinopathy caused by variants in the TTLL5 gene. |
| CADDS (MONDO:0018247) |
CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly). |
| neuronal ceroid lipofuscinosis, CLN5-related, sheep (MONDO:1010889) |
Any neuronal ceroid lipofuscinosis that occurs in sheep due to a mutation in the CLN5 gene. |
| aldosterone-producing adenoma with seizures and neurological abnormalities (MONDO:0014200) |
An autosomal dominant neurodevelopmental condition related to variants in CACNA1D. Most reported variants are de novo and functional studies have indicated a gain-of-function disease mechanism. This condition is characterized by developmental delay/intellectual disability, autism spectrum disorder, hypotonia and seizures. Other reported features include endocrine abnormalities such as primary aldosteronism and congenital hyperinsulinemic hypoglycemia, self-injurious behavior, facial dysmorphisms, and heart defects. |
| reading seizures (MONDO:0007560) |
A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures. |
| precerebral artery stenosis (MONDO:1030010) |
A cerebrovascular disorder characterized by an abnormal narrowing of a precerebral artery. |
| neuronal ceroid lipofuscinosis, CLN6-related, sheep (MONDO:1010881) |
Any neuronal ceroid lipofuscinosis that occurs in sheep due to a mutation in the CLN6 gene. |
| retinitis pigmentosa, RP1-related, cattle (MONDO:1011276) |
Any retinitis pigmentosa that occurs in cattle due to a mutation in RP1 gene. |
| anti-TIF1 dermatomyositis (MONDO:1010087) |
A dermatomyositis characterized by the presence of anti-TIF1 autoantibodies. |
| GM1 gangliosidosis, GLB1-related, domestic cat (MONDO:1010846) |
A lysosomal storage disease in cats due to a mutation in the GLB1 gene. There is a buildup of GM1 gangliosides in tissues due to a lack of the enzyme beta-galactosidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age. |
| paroxysmal atrial fibrillation (MONDO:1030011) |
An atrial fibrillation disorder characterized by intermittent atrial fibrillation that lasts less than seven days from onset. |
| spinocerebellar ataxia with epilepsy (MONDO:0016809) |
A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate. |
| neuronal ceroid lipofuscinosis, CLN3-related, pig (MONDO:1010903) |
Any neuronal ceroid lipofuscinosis that occurs in pigs due to a mutation in the CLN3 gene created using gene editing. |
| myoclonic-atonic epilepsy (MONDO:0014633) |
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. |
| IMPG1-related recessive retinopathy (MONDO:1040037) |
Any retinopathy caused by autosomal recessive variants in the IMPG1 gene. |
| epilepsy, familial adult myoclonic (MONDO:0000160) |
An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. |
| PUM1-associated developmental disability-ataxia-seizure syndrome (MONDO:0035117) |
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. |
| achromatopsia, CNGA3-related, dog (MONDO:1011260) |
Any achromatopsia that occurs in dogs due to a mutation in the CNGA3 gene. |
| familial infantile myoclonic epilepsy (MONDO:0011506) |
A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability. |
| HGSNAT-related retinopathy (MONDO:1040040) |
Any isolated retinopathy caused by variants in the HGSNAT gene. |
| POLR3A-related disorder (MONDO:0700276) |
Disorder in which the cause of disease is a variation in the POLR3A gene. |
| focal nonepidermolytic palmoplantar keratoderma, KRT16-related, dog (MONDO:1010790) |
Any painful thickening of the footpads with severe keratinous proliferations and fissures that occurs in dogs due to a mutation in the KRT16 gene. |
| inherited rickets, DMP1-related, sheep (MONDO:1011197) |
Any inherited rickets in sheep due to a mutation in the DMP1 gene. |
| BBS1-related ciliopathy (MONDO:1040043) |
Any ciliopathy caused by variants in the BBS1 gene. |
| FZD4-related exudative vitreoretinopathy (MONDO:1040041) |
Any exudative vitreoretinopathy caused by a variant in the FZD4 gene. |
| pseudo vitamin D-deficiency rickets, CYP27B1-related, pig (MONDO:1011185) |
Any vitamin D dependent rickets that occurs in pigs due to a mutation in the CYP27B1 gene. |
| neurofibromatosis, NF1-related, pig (MONDO:1010959) |
Any neurofibromatosis that occurs in pigs due to a mutation in the NF1 gene. |
| spastic triplegia (MONDO:0700279) |
A form of spastic cerebral palsy affecting three limbs; this could be both arms and a leg, or both legs and an arm. In some instances, it has referred to one upper and one lower extremity and the face. |
| mucopolysaccharidosis, SGSH-related, dog (MONDO:1010876) |
Any mucopolysaccharidosis that occurs in dogs due to a mutation in the SGSH gene. |
| developmental and epileptic encephalopathy 105 with hypopituitarism (MONDO:0031028) |
A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has material basis in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. |
| primary hyperoxaluria, AGXT-related, sheep (MONDO:1011101) |
Any nephropathy characterized by extensive oxalate crystal deposition that occurs in sheep due to a mutation in the AGXT gene. |
| anti-MDA5 dermatomyositis (MONDO:1010064) |
A dermatomyositis characterized by the presence of anti-MDA5 autoantibodies. It is often associated with dermatomyositis rashes, amyopathic or hypomyopathic muscle involvement and interstitial lung disease, frequently as a rapid progressive course and high mortality. |
| Mitchell syndrome (MONDO:0030073) |
A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has material basis in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1. |
| oculocutaneous albinism, SLC45A2-related, Japanese medaka (MONDO:1011037) |
Any oculocutaneous albinism that occurs in Japanese medaka due to a mutation in the SLC45A2 gene. |
| benign focal seizures of adolescence (MONDO:0015471) |
A rare epilepsy typically characterized by isolated focal motor and somatosensory seizures. Less frequently other focal seizure types, with or without secondary generalization, have been described. The seizures usually happen when the patient is awake and take a benign course. The condition is transitory, interictal examinations are normal, and there is usually no family history of epilepsy. |
| cone-rod dystrophy, GUCY2D-related, pig (MONDO:1011272) |
A disease created by lentiviral transgenesis to create pigs with a deleterious mutation in the GUCY2D gene known to cause cone-rod dystrophy 6 in humans. |
| neuronal ceroid lipofuscinosis, TPP1-related, pig (MONDO:1010886) |
Any neuronal ceroid lipofuscinosis that occurs in pigs due to a mutation in the TPP1 gene created using gene editing. |
| glycogen storage disease, PYGM-related, cattle (MONDO:1010703) |
Any glycogen storage disease that occurs in cattle due to a mutation in the PYGM gene. |
| mucopolysaccharidosis, GUSB-related, dog (MONDO:1010871) |
Any mucopolysaccharidosis that occurs in dogs due to a mutation in the GUSB gene. |
| DHDDS-CDG (MONDO:1040054) |
Any congenital disorder of glycosylation caused by variants in the DHDDS gene. |
| GM1 gangliosidosis, cattle (MONDO:1010847) |
A lysosomal storage disease in cattle. There is a buildup of GM1 gangliosides in tissues due to a lack of the enzyme beta-galactosidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age. |
| pediatric high-grade glioma (MONDO:1010030) |
A malignant high-grade glioma that occurs during childhood in the central nervous system. |
| post-treatment Lyme disease syndrome (MONDO:0700280) |
A disorder caused by the infection in Lyme disease and manifesting after the original infection. |
| neuronal ceroid lipofuscinosis, MFSD8-related, dog (MONDO:1010900) |
Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the MFSD8 gene. |
| thyroid gland mixed medullary and follicular cell-derived carcinoma (MONDO:0971035) |
A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. |
| rod-cone dysplasia, PDE6A-related, dog (MONDO:1011254) |
Any progressive rod-cone degeneration that occurs in dogs due to a mutation in the PDE6A gene. |
| clinically amyopathic dermatomyositis (MONDO:1010096) |
A dermatomyositis with cutaneous features but no skeletal muscle weakness. |
| neuronal ceroid lipofuscinosis, CLN6-related, domestic cat (MONDO:1010880) |
Any neuronal ceroid lipofuscinosis that occurs in cats due to a mutation in the CLN6 gene. |
| neuronal ceroid lipofuscinosis, TPP1-related, dog (MONDO:1010885) |
Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the TPP1 gene. |
| GM2 gangliosidosis, GM2A-related, domestic cat (MONDO:1010878) |
A lysosomal storage disease in cats due to a mutation in the GM2A gene. There is a buildup of G(M2) gangliosides in tissues. It is characterised by progressive neuromuscular dysfunction. |
| rod-cone dysplasia, PCARE-related, dog (MONDO:1011265) |
Any progressive rod-cone degeneration that occurs in dogs due to a mutation in the PCARE gene. |
| sphingomyelinase deficiency, cattle (MONDO:1010898) |
Neurological disease characterized by ataxia, hypermetria, wide-base stance, and strabismus that occurs in cattle due to a sphingomyelinase deficiency resulting in the accumulation of sphingomyelin in neurons and macrophages. |
| sphingomyelin lipidosis, raccoon (MONDO:1010896) |
Any lysosomal storage disease consistent with sphingomyelin lipidosis that occurs in raccoons. |
| neuronal ceroid lipofuscinosis, CTSD-related, sheep (MONDO:1010893) |
Any neuronal ceroid lipofuscinosis that occurs in sheep due to a mutation in the CTSD gene. |
| IMPG1-related dominant retinopathy (MONDO:1040036) |
Any retinopathy caused by an autosomal dominant variant in the IMPG1 gene. |
| hypomyopathic dermatomyositis (MONDO:1010089) |
A clinically amyopathic dermatomyositis with no subjective symptoms of skeletal muscle weakness but objective findings of muscle involvement (elevated aldolase level). |
| primary hyperoxaluria, AGXT-related, dog (MONDO:1011100) |
Any nephropathy characterized by renal tubular necrosis with extensive oxalate crystal deposition that occurs in dogs due to a mutation in the AGXT gene. |
| BBS12-related ciliopathy (MONDO:1040045) |
Any ciliopathy caused by variants in the BBS12 gene. |
| epilepsy, early-onset, vitamin B6-dependent (MONDO:0015005) |
A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. |
| neuronal ceroid lipofuscinosis, CTSD-related, dog (MONDO:1010892) |
Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the CTSD gene. |
| neuronal ceroid lipofuscinosis, Japanese macaque (MONDO:1010899) |
Neuronal ceroid lipofuscinosis that occurs in Japanese macaques. Affected macaques display progressive neurological deficits including visual impairment, tremor, incoordination, ataxia and impaired balance. |
| anti-SAE dermatomyositis (MONDO:1010088) |
A dermatomyositis characterized by the presence of anti-SAE autoantibodies. |
| thyroid gland mucinous carcinoma (MONDO:0971036) |
A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. |
| glycogen storage disease, G6PC1-related, dog (MONDO:1010698) |
Any glycogen storage disease that occurs in dogs due to a mutation in the G6PC1 gene. |
| BBS7-related ciliopathy (MONDO:1040042) |
Any ciliopathy caused by variants in the BBS7 gene. |
| Stargardt disease, ABCA4-related, dog (MONDO:1011282) |
Any progressive rod-cone degeneration that occurs in dogs due to a mutation in the ABCA4 gene. |
| bladder fermentation syndrome (MONDO:0971032) |
An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. |
| familial encephalopathy with neuroserpin inclusion bodies (MONDO:0011412) |
A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has material basis in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. |
| achromatopsia, CNGA3-related, sheep (MONDO:1011261) |
Any achromatopsia that occurs in sheep due to a mutation in the CNGA3 gene. |
| achromatopsia, CNGB3-related, dog (MONDO:1011256) |
Any achromatopsia that occurs in dogs due to a mutation in the CNGB3 gene. |
| cone-rod dystrophy, IQCB1-related, black-footed cat (MONDO:1011267) |
Any cone-rod dystrophy that occurs in black-footed cats due to a mutation in the IQCB1 gene. |
| encephalopathy due to mitochondrial and peroxisomal fission defect (MONDO:0054865) |
A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities. |
| developmental and epileptic encephalopathy, 55 (MONDO:0033364) |
A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. |
| TTC8-related ciliopathy (MONDO:1040049) |
Any ciliopathy caused by variants in the TTC8 gene. |
| cone-rod dystrophy, IQCB1-related, dog (MONDO:1011268) |
Any cone-rod dystrophy that occurs in dogs due to a mutation in the IQCB1 gene. |
| leukocyte adhesion deficiency, FERMT3-related, dog (MONDO:1010736) |
Any leukocyte adhesion deficiency that occurs in dogs due to a mutation in the FERMT3 gene. |
| PROM1-related retinopathy (MONDO:1040056) |
Any retinopathy caused by variants in the PROM1 gene. |
| primary hyperoxaluria, GRHPR-related, domestic cat (MONDO:1011062) |
Any acute-onset renal failure from deposition of oxalate crystals in renal tubules that occurs in cats due to a mutation in the GRHPR gene. |
| Niemann-Pick disease, SMPD1-related, domestic cat (MONDO:1010897) |
Any lysosomal disease characterized by the accumulation of sphingomyelin and cholesterol in lysosomes that occurs in cats due to a mutation in the SMPD1 gene. |
| congenital muscular dystonia, ATP2A1-related, cattle (MONDO:1010926) |
Hereditary muscle myotonia in cattle due to a mutation in the ATP2A1 gene. This disease results in an inability to flex limbs and injurious falling. Animals also experience fatigue upon stimulation. The disorder in muscle function is due to a defect in the Ca2 pump. |
| PRPH2-related retinopathy (MONDO:1040055) |
Any retinopathy caused by a variant or variants in the PRPH2 gene. |
| PDE6G-related retinopathy (MONDO:1040034) |
Any retinopathy caused by variants in the PDE6G gene. |
| leukocyte adhesion deficiency, ITGB2-related, cattle (MONDO:1010729) |
Any leukocyte adhesion deficiency that occurs in cattle due to a mutation in the ITGB2 gene. |
| polyhydramnios, megalencephaly, and symptomatic epilepsy (MONDO:0012611) |
A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3. |
| neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (MONDO:0032829) |
Neurodevelopmental disorder in which the cause of the disease is a variation in the POLR2A gene; it is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Other features may include feeding difficulties, dysmorphic features, and visual problems. Brain magnetic resonance imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles. |
| cone-rod dystrophy, ADAM9-related, dog (MONDO:1011264) |
Any cone-rod dystrophy that occurs in dogs due to a mutation in ADAM9 gene. |
| absence epilepsy (MONDO:0850093) |
An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. |
| Niemann-Pick disease, NPC2-related, domestic cat (MONDO:1010902) |
A lysosomal storage disorders characterized by characterized by the accumulation of unesterified cholesterol and glycolipids in cellular lysosomes and late endosomes that occurs in cats due to a mutation in the NPC2 gene. |
| vitamin D dependent rickets, CYP27B1-related, dog (MONDO:1011183) |
Any vitamin D dependent rickets that occurs in dogs due to a mutation in the CYP27B1 gene. |
| thyroid gland cribriform morular carcinoma (MONDO:0971034) |
A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. |
| tyrosinemia type 1, FAH-related, rabbit (MONDO:1010721) |
Any deficiency in fumarylacetoacetate hydrolase that occurs in rabbits due to a mutation in the FAH gene created by genetic engineering or gene editing. Fumarylacetoacetate hydrolase is an enzyme that catalyzes the last step of tyrosine metabolism. |
| oculocutaneous albinism, SLC45A2-related, cattle (MONDO:1011040) |
Any oculocutaneous albinism that occurs in cattle due to a mutation in the SLC45A2 gene. |
| neonatal-onset encephalopathy with rigidity and seizures (MONDO:0013784) |
A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. |
| Bernard-Soulier syndrome, GP9-related, dog (MONDO:1010672) |
Hereditary macrothrombocytes and mild-to-moderate thrombocytopenia with a bleeding tendency in dogs due to a variation in the GP9 gene. |
| leukocyte adhesion deficiency, non-human animal (MONDO:1012580) |
Leukocyte adhesion deficiency that occurs in non-human animals. |
| global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (MONDO:0024252) |
A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others. |
| acquired porphyria (MONDO:1030015) |
A porphyria disorder that is acquired during the lifetime of the individual. |
| mucopolysaccharidosis, ARSB-related, domestic cat (MONDO:1010870) |
Any mucopolysaccharidosis that occurs in cats due to a mutation in the ARSB gene. |
| LRIT3-related retinopathy (MONDO:1040035) |
Any retinopathy caused by variants in the LRIT3 gene. |
| neuronal ceroid lipofuscinosis, PPT1-related, dog (MONDO:1010890) |
Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the PPT1 gene. |
| intrathyroid thymic carcinoma (MONDO:0971033) |
A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. |
| achromatopsia, PDE6C-related, Rhesus monkey (MONDO:1011281) |
Any achromatopsia that occurs in Rhesus monkey due to a mutation in the PDE6C gene. |
| oculocutaneous albinism, SLC45A2-related, western gorilla (MONDO:1011038) |
Any oculocutaneous albinism that occurs in western gorillas due to a mutation in the SLC45A2 gene. |
| Niemann-Pick disease, NPC1-related, domestic cat (MONDO:1010874) |
A lysosomal storage disease characterised by impaired unesterified cholesterol and sphingomyelin transport and metabolism, resulting in the accumulation of un-esterified cholesterol and glycosphingolipids within late endosomes and lysosomes that occurs in cats due to a mutation in the NPC1 gene. Affected animals present with hepatosplenomegaly, neurological degeneration and premature death. |
| syndromic retinal atrophy, BBS2-related, dog (MONDO:1011285) |
Any syndromic retinal atrophy in dogs due to a mutation in the BBS2 gene. |
| LZTFL1-related ciliopathy (MONDO:1040046) |
Any ciliopathy caused by variants in the LZTFL1 gene. |
| generalized epilepsy with febrile seizures plus, type 1 (MONDO:0011416) |
A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1B on chromosome 19q13.11. |
| rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome (MONDO:0011970) |
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands. |
| cone-rod dystrophy, non-human animal (MONDO:1012582) |
Inherited cone-rod dystrophy that occurs in non-human animals. |
| achromatopsia, non-human animal (MONDO:1012578) |
Achromatopsia that occurs in non-human animals. |
| IMPDH1-related retinopathy (MONDO:1040051) |
Any retinopathy caused by a variant in the IMPDH1 gene. |
| glycogen storage disease, PFKM-related, dog (MONDO:1010699) |
Any glycogen storage disease that occurs in sheep due to a mutation in the PFKM gene. |
| neuronal ceroid lipofuscinosis, CLN5-related, cattle (MONDO:1010888) |
Any neuronal ceroid lipofuscinosis that occurs in cattle due to a mutation in the CLN5 gene. |
| neuronal ceroid lipofuscinosis, MFSD8-related, domestic cat (MONDO:1010901) |
Any neuronal ceroid lipofuscinosis that occurs in cats due to a mutation in the MFSD8 gene. |
| BBS2-related ciliopathy (MONDO:1040048) |
Any ciliopathy caused by variants in the BBS2 gene. |
| epilepsy with myoclonic absences (MONDO:0019487) |
A rare childhood-onset epilepsy characterized by sudden onset, short lasting absence associated with rhythmical myoclonia of head and shoulders. |
| persistent atrial fibrillation (MONDO:1030009) |
An atrial fibrillation disorder characterized by continuous atrial fibrillation that lasts for more than seven days. |
| polycystic kidney disease, PKD2-related, domestic cat (MONDO:1011105) |
Any polycystic kidney disease that occurs in cats due to a mutation in the PKD2 gene. |
| Mycoplasmoides infection (MONDO:1030003) |
A disease caused by infection with Mycoplasmoides. |
| POLR3-related leukodystrophy (MONDO:0700282) |
Hypomyelinating leukodystrophy disorder in which is caused of the disease is a variation in any of the genes encoding POLR3 (RNA polymerase III) subunits, including POLR3A, POLR3B and POLR1C. This disorder is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. |
| PROM1-related recessive retinopathy (MONDO:1040052) |
Any retinopathy caused by autosomal recessive variants in the PROM1 gene. |
| Gaucher disease, GBA1-related, sheep (MONDO:1010904) |
Gaucher disease that occurs in sheep due to a mutation in the GBA1 gene. Neonatal lambs display severe neurological disease with shaking and inability to stand. Their skin at birth is abnormal and thickened. |
| glycogen storage disease II, Japanese quail (MONDO:1010849) |
A lysosomal storage disease in which there is a buildup of glycogen due to a lack of the enzyme alpha-glucosidase in Japanese quail. |
| leukocyte adhesion deficiency, ITGB2-related, domestic cat (MONDO:1010728) |
Any leukocyte adhesion deficiency that occurs in cats due to a mutation in the ITGB2 gene. |
| vitamin D dependent rickets type 1A, CYP27B1-related, domestic cat (MONDO:1011184) |
Any vitamin D dependent rickets that occurs in cats due to a mutation in the CYP27B1 gene. |
| BBS5-related ciliopathy (MONDO:1040047) |
Any ciliopathy caused by variants in the BBS5 gene. |
| BBS4-related ciliopathy (MONDO:1040044) |
Any ciliopathy caused by variants in the BBS4 gene. |
| hypophosphatemic rickets, DMP1-related, rabbit (MONDO:1011198) |
Hypophosphatemic rickets in rabbits due to ablation of the DMP1 gene created using CRISPR/Cas9. |
| mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal (MONDO:1012581) |
Mucopolysaccharidosis or mucopolysaccharidosis-like disorder that occurs in non-human animals. |
| hypertensive urgency (MONDO:1030007) |
A hypertensive disorder that is characterized by marked elevation in blood pressure, such as systolic blood pressure greater than 180 mmHg or diastolic blood pressure greater than 110 mmHg, and without evidence of target organ damage, such as pulmonary edema, cardiac ischemia, neurologic deficits, or acute renal failure. |
| MYH10-related neurodevelopmental disorder with congenital anomalies (MONDO:0700281) |
An autosomal dominant complex neurodevelopmental disorder in which the cause of the disease is a mutation in the MYH10 gene. |
| PROM1-related dominant retinopathy (MONDO:1040053) |
Any retinopathy caused by an autosomal dominant variant in the PROM1 gene. |
| fatty acyl-CoA reductase 1 deficiency (MONDO:0014510) |
A rhizomelic chondrodysplasia punctate that has material basis in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. |
| glycogen storage disease, AGL-related, dog (MONDO:1010717) |
Any glycogen storage disease that occurs in dogs due to a mutation in the AGL gene. |
| tyrosinemia type 1, FAH-related, pig (MONDO:1010720) |
Any deficiency in fumarylacetoacetate hydrolase that occurs in pigs due to a mutation in the FAH gene created by genetic engineering or gene editing. Fumarylacetoacetate hydrolase is an enzyme that catalyzes the last step of tyrosine metabolism. |
| MKKS-related ciliopathy (MONDO:1040050) |
Any ciliopathy caused by variants in the MKKS gene. |
| GM2 gangliosidosis, HEXB-related, domestic cat (MONDO:1010884) |
A lysosomal storage disease in cats due to a mutation in the HEXB gene. There is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age. |
| limb-girdle muscular dystrophy, SGCD-related, dog (MONDO:1010934) |
Any muscular dystrophy that occurs in dogs due to a mutation in the SGCD gene. |
| POLR3B-related disorder (MONDO:0700277) |
Disorder in which the cause of disease is a variation in the POLR3B gene. |
| POLR1C-related disorder (MONDO:0700278) |
Disorder in which the cause of disease is a variation in the POLR1C gene. |
| anti-Mi2 dermatomyositis (MONDO:1010065) |
A dermatomyositis characterized by the presence of anti-Mi2 autoantibodies. |
| GM2 gangliosidosis, springbok (MONDO:1010882) |
A lysosomal storage disease in springboks. There is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. |
