| X-linked progressive retinal atrophy, type 3, dog (MONDO:1012701) |
X-linked form of progressive retinal atrophy that occurs in dogs. |
| neuromuscular channelopathy, KCNG1-related, cattle (MONDO:1012911) |
Any neuromuscular disease characterized by a potassium channelopathy that occurs in cattle due to a mutation in the KCNG1 gene. |
| neuroaxonal dystrophy, MFN2-related, dog (MONDO:1012803) |
Any neuroaxonal dystrophy that occurs in dogs due to a mutation in the MFN2 gene. |
| neuroaxonal dystrophy, VPS11-related, dog (MONDO:1012802) |
Any neuroaxonal dystrophy that occurs in dogs due to a mutation in the VPS11 gene. |
| XY difference of sexual development, dog (MONDO:1012714) |
Any difference of sexual development that occurs in dogs with a XY karyotype. |
| polyneuropathy, ARHGEF10-related, dog (MONDO:1012748) |
Any polyneuropathy that occurs in dogs due to a mutation in the ARHGEF10 gene. |
| multifocal retinopathy 2, BEST1-related, dog (MONDO:1012708) |
Any retinal disorder characterized by multiple areas of retinal degeneration that occurs in dogs due to a G(482)A missense mutation in the BEST1 gene. |
| polyneuropathy, RAB3GAP1-related, dog (MONDO:1012762) |
Any polyneuropathy that occurs in dogs due to a mutation in the RAB3GAP1 gene. |
| XY sex reversal, SRY-related, rabbit (MONDO:1012656) |
Any disorder of sexual differentiation that occurs in rabbits due to a mutation in the SRY gene created by genetic engineering or gene editing. |
| childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy (MONDO:0800500) |
A childhood-onset epilepsy syndrome where the onset of the condition includes manifestations of cognitive, neurological, or psychiatric impairment, stagnation, or regression, due directly to the underlying etiology. In contrast, an epileptic encephalopathy (EE) is present when the encephalopathy is caused by the epileptic activity. The term developmental and epileptic encephalopathy (DEE) is used when both factors contribute to the patient’s condition. |
| rod-cone dysplasia 1a, PDE6B-related, dog (MONDO:1012722) |
Any rod-cone dysplasia that occurs in dogs due to an 8-bp insertion in exon 21 in the PDE6B gene. |
| familial acute respiratory distress syndrome, ANLN-related, dog (MONDO:1012930) |
Any respiratory distress syndrome that occurs in dogs due to a mutation in the ANLN gene. |
| XX difference of sexual development, llama (MONDO:1012637) |
Any difference of sexual differentiation that occurs in llamas and is characterized by male sex reversal with female karyotype (XX) and absence of the SRY gene. |
| retinal degeneration, CEP290-related, domestic cat (MONDO:1012658) |
Any retinal degeneration that occurs in cats due to a mutation in the CEP290 gene. |
| XX difference of sexual development, domestic cat (MONDO:1012634) |
Any difference of sexual differentiation that occurs in domestic cats and is characterized by the presence of testicular tissue in the gonads with a female karyotype (XX) and absence of the SRY gene. |
| muscular dystrophy, COL6A1-related, dog (MONDO:1012761) |
Any muscular dystrophy that occurs in dogs due to a mutation in the COL6A1 gene. |
| progressive retinal atrophy, SLC4A3-related, dog (MONDO:1012710) |
Any progressive retinal atrophy that occurs in dogs due to a mutation in the SLC4A3 gene. |
| polysaccharide storage myopathy, type 1, horse (MONDO:1012649) |
Any disorder of glycogen metabolism that occurs in horses due to a mutation in the GYS1 gene. |
| XY sex reversal, SRY-related, horse (MONDO:1012653) |
Any disorder of sexual differentiation that occurs in horses due to a mutation in the SRY gene. |
| von Willebrand disease III, pig (MONDO:1012644) |
Any von Willebrand disease that occurs in pigs and is characterized by no detectable or a severe quantitative deficiency of the glycoprotein von Willebrand factor (vWF) due to a mutation in the VWF gene. |
| neuronal ceroid lipofuscinosis, ATP13A2-related, dog (MONDO:1012707) |
Any neuronal ceroid lipofuscinosis that occurs in dogs due to a mutation in the ATP13A2 gene. |
| progressive retinal atrophy, IMPG2-related, dog (MONDO:1012842) |
Any progressive retinal atrophy that occurs in dogs due to a mutation in the IMPG2 gene. |
| von Willebrand disease II, horse (MONDO:1012668) |
Any von Willebrand disease that occurs in horses and is characterized by qualitative abnormalities of the glycoprotein von Willebrand factor (vWF) and moderate to severe bleeding. |
| von Willebrand disease II, dog (MONDO:1012667) |
Any von Willebrand disease that occurs in dogs and is characterized by qualitative abnormalities of the glycoprotein von Willebrand factor (vWF) and moderate to severe bleeding due to a mutation in the VWF gene. |
| TFAP2B-related congenital heart disease spectrum disorder (MONDO:1010098) |
Any congenital heart disease caused by pathogenic variation(s) in the TFAP2B gene, which encodes the transcription factor AP-2β. This disorder is characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies. Additional features include sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus. Given the spectrum of symptoms associated with this condition, patients may exhibit a combination of these features. The underlying mechanism of the spectrum disorder is both dominant negative and loss-of-function. Pathogenic missense variants reported in Char syndrome patients appear to be dominant negative while loss-of-function alleles in PDA patients are likely to act through haploinsufficiency. |
| X-linked paralytic tremor, PLP1-related, rabbit (MONDO:1012625) |
Any X-linked tremor that occurs in rabbits due to a mutation in the PLP1 gene. |
| XY sex reversal, NR5A1-related, dog (MONDO:1012844) |
Any XY sex reversal that occurs in dogs due to a mutation in the NR5A1 gene. |
| variable-age onset idiopathic generalized epilepsy syndrome (MONDO:0800487) |
Any idiopathic generalized epilepsy syndrome that has a variable-age onset. |
| cancer, TP53-related, dog (MONDO:1012961) |
Any cancer that occurs in dogs due to a somatic mutation in the TP53 gene. |
| variable-age onset combined generalized and focal epilepsy syndrome (MONDO:0800494) |
An epilepsy syndrome characterized by a combined generalized and focal epilepsy syndromes where age at seizure onset varies. |
| XY sex reversal, SRY-related, cattle (MONDO:1012655) |
Any disorder of sexual differentiation that occurs in cattle due to a mutation in the SRY gene. |
| rod-cone dysplasia 2, RD3-related, dog (MONDO:1012661) |
Any rod-cone dysplasia that occurs in dogs due to a mutation in the RD3 gene. |
| osteochondromatosis, EXT2-related, dog (MONDO:1012652) |
Any osteochondromatosis that occurs in dogs due to a mutation in the EXT2 gene. |
| skeletal dysplasia, FGF4-retrogene-related, dog (MONDO:1012799) |
Any skeletal dysplasia that occurs in dogs due to FGF4 retrogene insertions (FGF4L1 and/or FGF4L2). |
| developmental and/or epileptic encephalopathy with spike-wave activation in sleep (MONDO:0800501) |
A spectrum of conditions with varied degree of cognitive, language, behavioral, and motor regression associated with marked spike-wave activation in sleep. The regression is seen within weeks of the EEG pattern. This syndrome encompasses the previous syndromes epileptic encephalopathy with continuous spike-wave in sleep and atypical childhood epilepsy with centrotemporal spikes (also previously known as pseudo-Lennox syndrome and atypical benign partial epilepsy). Landau–Kleffner syndrome is a specific subtype of EE-SWAS, where regression affects mainly language, with an acquired auditory agnosia. |
| arhinia, choanal atresia, and microphthalmia (MONDO:0011323) |
Any syndromic disease characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence that occurs due to variation in the SMCHD1 gene. |
| oculoskeletal dysplasia, COL9A3-related, dog (MONDO:1012704) |
Any retinal and skeletal dysplasia that occurs in dogs due to a mutation in the COL9A3 gene. |
| porcine stress syndrome, DMD-related, pig (MONDO:1012729) |
Any cardiomyopathy characterized by death under stressful conditions that occurs in pigs due to a mutation in the DMD gene. |
| disproportionate short-limbed chondrodysplasia, ITGA10-related, dog (MONDO:1012477) |
Any disproportionate short-limbed chondrodysplasia that occurs in dogs due to a mutation in the ITGA10 gene. |
| skeletal dysplasia, PCYT1A-related, dog (MONDO:1012946) |
Any skeletal dysplasia that occurs in dogs due to a mutation in the PCYT1A gene. |
| progressive retinal atrophy, SAG-related, dog (MONDO:1012743) |
Any progressive retinal atrophy that occurs in dogs due to a mutation in the SAG gene. |
| multifocal symmetrical necrotizing encephalomyelopathy, Angus cattle (MONDO:1012696) |
A necrotizing encephalomyelopathy that occurs in calves of the Angus breed of cattle and is characterized by symmetrical degenerative lesions in the brain and spinal cord. |
| Waardenburg syndrome, MITF-related, pig (MONDO:1012678) |
Any Waardenburg syndrome that occurs in pigs due to a mutation in the MITF gene created by genetic engineering or gene editing. |
| Waardenburg syndrome, EDNRB-related, sheep (MONDO:1012734) |
Any Waardenburg syndrome that occurs in sheep due to a mutation in the EDNRB gene. |
| TMEM63B-related developmental and epileptic encephalopathy with anemia (MONDO:0800503) |
A developmental and epileptic encephalopathy caused by variation in the TMEM63B gene. This disorder is characterised by early-onset drug-resistant epilepsy, with moderate-to-profound intellectual disability, severe motor impairment and brain structural anomalies. Most patients present early generalised hypotonia, nystagmus and central visual impairment, severe dysphagia and haematological abnormalities. |
| polyneuropathy, GJA9-related, dog (MONDO:1012795) |
Any polyneuropathy that occurs in dogs due to a mutation in the GJA9 gene. |
| XY difference of sexual development, horse (MONDO:1012716) |
Any difference of sexual development that occurs in horses with a XY karyotype. |
| osteogenesis imperfecta, type II, COL1A1-related, cattle (MONDO:1012798) |
Any osteogenesis imperfecta that occurs in cattle due to a mutation in the COL1A1 gene. |
| progressive degenerative myeloencephalopathy, PNPLA8-related, cattle (MONDO:1012627) |
Any progressive degenerative myeloencephalopathy that occurs in cattle due to a mutation in the PNPLA8 gene. |
| Parkinson disease, SNCA-related, rhesus monkey (MONDO:1012884) |
Any Parkinson disease that occurs in rhesus monkeys due to a mutation in the SNCA gene created by genetic engineering or gene editing. |
| Rett syndrome, MECP2-related, crab-eating macaque (MONDO:1012890) |
Any autism spectrum disoder that occurs in crab-eating macaques due to a mutation in the MECP2 gene created by genetic engineering or gene editing. |
| retinal dysplasia, NDP-related, dog (MONDO:1012873) |
Any retinal dysplasia that occurs in dogs due to a mutation in the NDP gene. |
| epilepsy with auditory features (MONDO:0800496) |
A variable-age onset focal epilepsy syndrome with characteristic focal aware sensory auditory seizures. Seizures often produce such mild symptoms that they are not diagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. EAF may occur as a familial syndrome, familial EAF (FEAF, previous known as autosomal dominant lateral temporal lobe epilepsy or autosomal dominant partial epilepsy with auditory features). Inheritance may be autosomal dominant (ADEAF), with incomplete penetrance. |
| rod-cone dysplasia 1, PDE6B-related, dog (MONDO:1012630) |
Any rod-cone dysplasia that occurs in dogs due to a mutation in the PDE6B gene. |
| progressive retinal atrophy, KIF3B-related, domestic cat (MONDO:1012833) |
Any progressive retinal atrophy that occurs in cats due to a mutation in the KIF3B gene. |
| progressive retinal atrophy, CCDC66 related, dog (MONDO:1012703) |
Any progressive retinal atrophy that occurs in dogs due to a mutation in the CCDC66 gene. |
| Waardenburg syndrome, MITF-related, golden hamster (MONDO:1012677) |
Any Waardenburg syndrome that occurs in golden hamsters due to a mutation in the MITF gene created by genetic engineering or gene editing. |
| difference of sexual development, DMRT1-related, Japanese medaka (MONDO:1012732) |
Any difference of sexual development that occurs in Japanese medaka due to a mutation in the DMRT1 gene. |
| palmoplantar hyperkeratosis, DSG1-related, dog (MONDO:1012832) |
Any hyperkeratosis that occurs in dogs due to a mutation in the DSG1 gene. |
| autoimmune disease, non-human animal (MONDO:1012985) |
Autoimmune disease that occurs in non-human animals. |
| von Willebrand disease III, domestic cat (MONDO:1012643) |
Any von Willebrand disease that occurs in cats and is characterized by no detectable or a severe quantitative deficiency of the glycoprotein von Willebrand factor (vWF). |
| ptosis, intellectual disability, retarded growth and mortality syndrome, UBE3B-related, cattle (MONDO:1012754) |
Any syndromic disease that occurs in cattle due to a mutation in the UBE3B gene. |
| progressive retinal atrophy, Miniature Schnauzer, dog (MONDO:1012831) |
Any progressive retinal atrophy that occurs in the Miniature Schnauzer breed of dog and is characterized by an average age of onset of seven years, mild clinical signs, and slow progression. |
| XY sex reversal, SRY-related, Western roe deer (MONDO:1012654) |
Any disorder of sexual differentiation that occurs in Western roe deer due to a mutation in the SRY gene. |
| osteopetrosis, SLC4A2-related, cattle (MONDO:1012898) |
Any osteopetrosis that occurs in cattle due to a mutation in the SLC4A2 gene. |
| early-onset retinal dystrophy, Bengal, domestic cat (MONDO:1012717) |
Any retinal dystrophy that occurs in the Bengal breed of domestic cats characterized as early-onset primary photoreceptor disorder that leads to blindness within the first year of age. |
| xanthinuria, MOCOS-related, cattle (MONDO:1012740) |
Any xanthinuria that occurs in cattle due to a mutation in the MOCOS gene. |
| skeletal dysplasia, COL11A2-related, dog (MONDO:1012736) |
Any skeletal dysplasia that occurs in dogs due to a mutation in the COL11A2 gene. |
| oculoskeletal dysplasia, COL9A2-related, dog (MONDO:1012705) |
Any retinal and skeletal dysplasia that occurs in dogs due to a mutation in the COL9A2 gene. |
| Parkinson disease, PINK1-related, crab-eating macaque (MONDO:1012875) |
Any Parkinson disease that occurs in crab-eating macaques due to a mutation in the PINK1 gene created by genetic engineering or gene editing. |
| Waardenburg syndrome, SOX10-related, pig (MONDO:1012903) |
Any Waardenburg syndrome that occurs in pigs due to a mutation in the SOX10 gene created by genetic engineering or gene editing. |
| multifocal symmetrical necrotizing encephalomyelopathy, Simmental cattle (MONDO:1012698) |
Any necrotising myelopathy that occurs in calves of the Simmental breed of cattle and is characterized by progressive hindlimb ataxia and paralysis and bilateral symmetrical foci of necrosis throughout the grey matter of the brain. |
| familial mesial temporal lobe epilepsy (MONDO:0800493) |
A focal epilepsy syndrome where the age at onset is typically in adolescence or adulthood. Affected individuals have focal aware seizures with mesial temporal lobe features, especially prominent déjà vu. Most patients have a normal MRI, and seizures respond to treatment. A subgroup is recognised that have antecedent febrile seizures, hippocampal atrophy, and drug resistant seizures. Direct questioning of relatives may be required to identify this familial epilepsy syndrome, as many individuals consider their déjà vu experiences as mild and they may not have been diagnosed as seizures. |
| persistent truncus arteriosus, GATA6-related, cattle (MONDO:1012936) |
Any persistent truncus arteriosus that occurs in cattle due to a mutation in the GATA6 gene. |
| split spinal cord malformation type II, cattle (MONDO:1012824) |
Any congenital duplication of the spinal cords where the spinal cords are merged and covered by the same meninges. |
| skeletal-cardio-enteric dysplasia, MAP2K2-related, cattle (MONDO:1012887) |
Any syndromic congenital malformation characterized by reduced fetal growth, a short-spine, a long and narrow face, cardiac defects and heterotopy of the spiral colon that occurs in newborn cattle due to a mutation in the MAP2K2 gene. |
| complex skeletal dysplasia, LTBP3-related, domestic cat (MONDO:1012912) |
Any skeletal dysplasia and deteriorating paraparesis due to complex skeletal malformations that occurs in domestic cats due to a mutation in the LTBP3 gene. |
| progressive retinal atrophy, IFT122-related, dog (MONDO:1012861) |
Any progressive retinal atrophy that occurs in dogs due to a mutation in the IFT122 gene. |
| perinatal mortality syndrome, GCK-related, cattle (MONDO:1012939) |
Any syndromic disease characterized by perinatal mortality that occurs in cattle due to a mutation in the GCK gene. |
| neuromuscular disease, non-human animal (MONDO:1012983) |
Neuromuscular disease that occurs in non-human animals. |
| cone-rod dystrophy, RPGRIP1-related and MAP9-related, dog (MONDO:1012681) |
Any cone-rod dystrophy that occurs in dogs due to mutations in the RPGRIP1 and MAP9 genes. |
| Parkinson disease, non-human animal (MONDO:1012984) |
Parkinson disease that occurs in non-human animals. |
| xanthinuria, XDH-related, dog (MONDO:1012900) |
Any xanthinuria that occurs in dogs due to a mutation in the XDH gene. |
| progressive degenerative myeloencephalopathy, PNPLA8-related, dog (MONDO:1012626) |
Any progressive degenerative myeloencephalopathy that occurs in dogs due to a mutation in the PNPLA8 gene. |
| XX difference of sexual development, common carp (MONDO:1012631) |
Any difference of sexual differentiation that occurs in common carp and is characterized by male sex reversal in gynogenetic females with XX karyotype. |
| muscular dystrophy, COL6A3-related, dog (MONDO:1012835) |
Any muscular dystrophy that occurs in dogs due to a mutation in the COL6A3 gene. |
| familial isolated dilated cardiomyopathy (MONDO:0700335) |
A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present. |
| vitamin D-dependent rickets, VDR-related, cat (MONDO:1012680) |
Any inherited rickets that occurs in domestic cats due to a mutation in the VDR gene. |
| hereditary vitamin D-resistant rickets, VDR-related, dog (MONDO:1012679) |
Any inherited rickets that occurs in dogs due to a mutation in the VDR gene. |
| progressive retinal atrophy, Whippet, dog (MONDO:1012782) |
Progressive retinal atrophy that occurs in the Whippet breed of dog. |
| neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism (MONDO:0958231) |
Any neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor overall growth, severely impaired motor development, and dysmorphic facial features due to a variation in the PUM1 gene. |
| demyelinating disorder, Limousin cattle (MONDO:1012697) |
Any demyelinating disease that occurs in calves of the Limousin breed of cattle and is characterized by progressively severe forelimb hypermetria, blindness, behavioural abnormalities and multifocal white matter vacuolation and demyelination. |
| progressive retinal atrophy, CNGA1-related, dog (MONDO:1012765) |
Any progressive retinal atrophy that occurs in dogs due to a mutation in the CNGA1 gene. |
| XX difference of sexual development, dog (MONDO:1012633) |
Any difference of sexual differentiation that occurs in dogs and is characterized by the presence of testicular tissue in the gonads and varying degrees of phenotypic masculinization with a female karyotype (XX) and absence of both the SRY gene and the Y chromosome. |
| early-infantile DEE (MONDO:0800491) |
A neonatal/infantile epilepsy syndrome characterized by frequent drug-resistant seizures that begin ≤3 months of age, with abnormal interictal EEG and neurological examination. |
| childhood-onset idiopathic generalized epilepsy syndrome (MONDO:0800499) |
An idiopathic generalized epilepsy that has an onset during childhood. |
| autosomal dominant progressive retinal atrophy, RHO-related, dog (MONDO:1012673) |
Autosomal dominant form of progressive retinal atrophy that occurs in dogs due to a mutation in the RHO gene. |
| polyneuropathy, SBF2-related, dog (MONDO:1012840) |
Any polyneuropathy that occurs in dogs due to a mutation in the SBF2 gene. |
| neuroaxonal dystrophy, TECPR2-related, dog (MONDO:1012763) |
Any neuroaxonal dystrophy that occurs in dogs due to a mutation in the TECPR2 gene. |
| spondylo-epiphyseal dysplasia tarda, X-linked, dog (MONDO:1012683) |
Any X-linked chondrodysplasia characterized by spondylosis and arthrosis that occurs in dogs. |
| neuropathy with splayed forelimbs, UCHL1-related, cattle (MONDO:1012845) |
Any hereditary neurological disease that occurs in cattle and that is characterized by an inability to stand, significant forelimb extensor rigidity and excessive forelimb lateral abduction at birth due to a mutation in the UCHL1 gene. |
| split spinal cord malformation type I, cattle (MONDO:1012823) |
Any congenital duplication of the spinal cords where there is a bony partition separating the cords and each is contained in their own meningeal sheath. |
| osteogenesis imperfecta, COL1A2-related, dog (MONDO:1012791) |
Any osteogenesis imperfecta that occurs in dogs due to a mutation in the COL1A2 gene. |
| childhood-onset genetic generalized epilepsy syndrome (MONDO:0800498) |
A genetic generalized epilepsy that has an onset during childhood. |
| spinal muscular atrophy, LIX1-related, domestic cat (MONDO:1012888) |
Any spinal muscular atrophy that occurs in domestic cats due to a mutation in the LIX1 gene. |
| progressive retinal atrophy, FAM161A-related, dog (MONDO:1012749) |
Any progressive retinal atrophy that occurs in dogs due to a mutation in the FAM161A gene. |
| XX difference of sexual development, goat (MONDO:1012638) |
Any difference of sexual differentiation that occurs in goats and is characterized by the presence of testicular tissue in the gonads, abscence of horns (polled), with a female karyotype (XX) and absence of the SRY gene. |
| neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy (MONDO:0800490) |
A neonatal/infantile epilepsy syndrome characterized by the onset of non-self-limiting seizures and developmental regression or delay in infants/neonates. This condition is typically caused by genetic mutations that disrupt normal brain development, affecting both cognitive and motor development that is not responsive to typical seizure treatments. |
| XX difference of sexual development, pig (MONDO:1012636) |
Any difference of sexual differentiation that occurs in pigs and is characterized by male sex reversal with female karyotype (XX) and absence of the SRY gene. |
| neonatal/infantile-onset self-limited epilepsy syndrome (MONDO:0800488) |
An epilepsy syndrome characterized by the onset of seizures in neonates/infants where there is a high likelihood of spontaneously remitting at a predictable age. |
| thrombocytopenia, TUBB1-related, dog (MONDO:1012895) |
Any inherited macrothrombocytopenia that occurs in dogs due to a mutation in the TUBB1 gene. |
| XX difference of sexual development, horse (MONDO:1012635) |
Any difference of sexual differentiation that occurs in horses and is characterized by testicular tissue in the gonads, varying levels of masculinization, a female karyotype (XX), and the absence of the SRY gene. |
| genetic epilepsy with febrile seizures plus spectrum (MONDO:0800489) |
A neonatal/infantile-onset self-limited familial syndrome characterized by the presence of febrile seizures in an individual with a family history of seizures/epilepsy. Febrile seizures may be typical febrile seizures or 'febrile seizures plus' (FS+) may occur, where febrile seizures continue past 6 years of age and/or are accompanied by afebrile seizures which may be generalized or focal. FS+ and GEFS+ are distinguished on the basis of family history. A number of dominantly inherited genes have been linked to both GEFS+ and FS+, with implications for specific genetic counselling, due to the variable severity of the epilepsy in different family members. Although febrile seizures are the hallmark of this familial syndrome, not all individuals in a family may have these. |
| short QT syndrome, KCNH2-related, rabbit (MONDO:1012897) |
Any heart disorder characterized by pathologically accelerated cardiac repolarization and increased ventricular tachycardia/fibrillation inducibility that occurs in rabbits due to a mutation in the KCNH2 gene created by genetic engineering or gene editing. |
| von Willebrand disease III, dog (MONDO:1012642) |
Any von Willebrand disease that occurs in dogs and is characterized by no detectable or a severe quantitative deficiency of the glycoprotein von Willebrand factor (vWF) due to a mutation in the VWF gene. |
| progressive retinal atrophy, PDE6B-related, dog (MONDO:1012838) |
Any progressive retinal atrophy that occurs in dogs due to a mutation in the PDE6B gene. |
| neuroaxonal dystrophy, PLA2G6-related, sheep (MONDO:1012788) |
Any neuroaxonal dystrophy that occurs in sheep due to a mutation in the PLA2G6 gene. |
| polyneuropathy, NDRG1-related, dog (MONDO:1012796) |
Any polyneuropathy that occurs in dogs due to a mutation in the NDRG1 gene. |
| XX difference of sexual development, Japanese medaka (MONDO:1012632) |
Any difference of sexual differentiation that occurs in Japanese medaka and is characterized by male sex reversal with female karyotype (XX). |
| progressive retinal atrophy, NECAP1-related, dog (MONDO:1012806) |
Any progressive retinal atrophy that occurs in dogs due to a mutation in the NECAP1 gene. |
| X-linked progressive retinal atrophy 1, RPGR-related, dog (MONDO:1012628) |
X-linked form of progressive retinal atrophy that occurs in dogs due to a mutation in the RPGR gene and is characterized by normal photoreceptor morphogenesis, after which progressive rod–cone degeneration develops in the peripheral retina, gradually advancing toward the optic disc. |
| demyelinating disease, non-human animal (MONDO:1012987) |
Demyelinating disease that occurs in non-human animals. |
| variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration (MONDO:0800495) |
An epilepsy syndrome characterized by seizures along with developmental and/or epileptic encephalopathy or progressive neurological deterioration where age at seizure onset varies. |
| osteogenesis imperfecta, CREB3L1-related, domestic cat (MONDO:1012921) |
Any osteogenesis imperfecta that occurs in domestic cats due to a mutation in the CREB3L1 gene. |
| autoimmune polyendocrinopathy, dog (MONDO:1012651) |
Any primary hypothyroidism and primary cortisol-deficient hypoadrenocorticism with increased serum concentrations of thyroglobulin autoantibodies and 21-hydroxylase autoantibodies that occurs in dogs. |
| X-linked progressive retinal atrophy 2, RPGR-related, dog (MONDO:1012702) |
X-linked form of progressive retinal atrophy that occurs in dogs due to a mutation in the RPGR gene and is characterized by severe manifestation during early retinal development. |
| XY sex reversal, sdY-related, Chinook salmon (MONDO:1012919) |
Any XY sex reversal that occurs in Chinook salmon due to a mutation in the sdY gene. |
| von Willebrand disease I, dog (MONDO:1012640) |
Any von Willebrand disease that occurs in dogs and is characterized by low plasma vWF concentrations and mild to moderate bleeding symptoms due to a mutation in the VWF gene. |
| Parkinson disease, LRRK2-related, white-tufted-ear marmoset (MONDO:1012886) |
Any Parkinson disease that occurs in white-tufted-ear marmosets due to a mutation in the LRRK2 gene created by genetic engineering or gene editing. |
| retinal degeneration, GC1-related, chicken (MONDO:1012659) |
Any retinal degeneration that occurs in chickens due to a mutation in the GC1 gene. |
| variable-age onset focal epilepsy syndrome (MONDO:0800492) |
An epilepsy syndrome characterized by focal seizures where age at seizure onset varies. |
| osteochondromatosis, EXT1-related, domestic cat (MONDO:1012935) |
Any osteochondromatosis that occurs in domestic cats due to a mutation in the EXT1 gene. |
| xanthinuria, type II, dog (MONDO:1012739) |
Any xanthinuria that occurs in dogs due to a mutation in the MOCOS gene. |
| Parkinson disease, PINK1-related, rhesus monkey (MONDO:1012876) |
Any Parkinson disease that occurs in rhesus monkeys due to a mutation in the PINK1 gene created by genetic engineering or gene editing. |
| von Willebrand disease I, pig (MONDO:1012641) |
Any von Willebrand disease that occurs in pigs and is characterized by low plasma vWF concentrations and mild to moderate bleeding symptoms. |
| progressive retinal atrophy, MERTK-related, dog (MONDO:1012753) |
Any progressive retinal atrophy that occurs in dogs due to a mutation in the MERTK gene. |
| neuroaxonal dystrophy, PLA2G6-related, dog (MONDO:1012787) |
Any neuroaxonal dystrophy that occurs in dogs due to a mutation in the PLA2G6 gene. |
| tuberous sclerosis, TSC1-related, pig (MONDO:1012894) |
Any neoplastic disease characterized by multiple organ hamartomas that occurs in pigs due to a mutation in the TSC1 gene created by genetic engineering or gene editing. |
| XY difference of sexual development, domestic cat (MONDO:1012715) |
Any difference of sexual development that occurs in domestic cats with a XY karyotype. |
| childhood-onset self-limited focal epilepsy syndrome (MONDO:0800502) |
A group of conditions characterized by age-dependent occurrence in otherwise normal children. Cognition and neurological evaluation are typically normal. Remission occurs in almost all patients by puberty. Presumed genetic factors have an important role. Seizure semiology and electroencephalographic (EEG) features are specific for each of the syndromes included in this group. |
| Y anomaly in low reproductive females, cattle (MONDO:1012735) |
Any reproductive system disorder that occurs in female cattle and is characterized by decreased reproductive efficiency and the presence of Y chromosome segments. |
| X-linked canine shaking pup, PLP1-related, dog (MONDO:1012623) |
Any X-linked tremor that occurs in dogs due to a mutation in the PLP1 gene. |
| osteogenesis imperfecta, type III, COL1A1-related, dog (MONDO:1012797) |
Any osteogenesis imperfecta that occurs in dogs due to a mutation in the COL1A1 gene. |
| multifocal retinopathy 1, BEST1-related, dog (MONDO:1012682) |
Any retinal disorder characterized by multiple areas of retinal degeneration that occurs in dogs due to a C(73)T stop mutation in the BEST1 gene. |
| multifocal retinopathy 3, BEST1-related, dog (MONDO:1012709) |
Any retinal disorder characterized by multiple areas of retinal degeneration that occurs in dogs due to a variant in exon 10 of the BEST1 gene. |
