| DHDDS-related syndrome (MONDO:1010097) |
Any neurological disorder in which the cause of the disease is a mutation in the DHDDS gene. |
| chondrodysplasia, EVC2-related, cattle (MONDO:1012931) |
Hereditary chondrodysplasia that occurs in cattle due to a mutation in the EVC2 gene. |
| oculocutaneous albinism, TYR-related, humpback whale (MONDO:1012596) |
Oculocutaneous albinism that occurs in humpback whales due to a mutation in the TYR gene. |
| oculocutaneous albinism, TYR-related, domestic ferret (MONDO:1012594) |
Oculocutaneous albinism that occurs in domestic ferrets due to a mutation in the TYR gene. |
| geleophysic dysplasia, ADMATSL2-related, dog (MONDO:1012700) |
A hereditary connective tissue disorder characterized by extensive fibrosis of the skin and joints that occurs in dogs due to a mutation in the ADAMTSL2 gene. |
| deafness, CDH23-related, dog (MONDO:1012940) |
Any hearing loss that occurs in dogs due to a mutation in the CDH23 gene. |
| epidermolysis bullosa simplex, KRT5-related, cattle (MONDO:1012780) |
Any epidermolysis bullosa simplex that occurs in cattle due to a mutation in the KRT5 gene. |
| deafness, GJB2-related, pig (MONDO:1012896) |
Any hearing loss that occurs in pigs due to a mutation in the GJB2 gene created by genetic engineering or gene editing. |
| congenital disorder of glycosylation, GALNT2-related, cattle (MONDO:1012883) |
Any congenital disorder of glycosylation that occurs in cattle due to a mutation in the GALNT2 gene. |
| orofaciodigital syndrome 18 (MONDO:0054770) |
Orofaciodigital syndrome 18 (OFD18) is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features. |
| primary open angle glaucoma, ADAMTS17-related, dog (MONDO:1012764) |
Any primary open angle glaucoma that occurs in dogs due to a mutation in the ADAMTS17 gene. |
| GM2 gangliosidosis, HEXA-related, dog (MONDO:1012687) |
A lysosomal storage disease that occurs in dogs due to a mutation in the HEXA gene. |
| inherited auditory system disease, non-human animal (MONDO:1012970) |
Inherited auditory system disease that occurs in non-human animals. |
| dwarfism, non-human animal (MONDO:1012971) |
Disturbances in growth processes leading to reduced height in non-human animals. |
| deafness, OSBPL2-related, pig (MONDO:1012874) |
Any hearing loss and hypercholesterolaemia that occurs in pigs due to a mutation in the OSBPL2 gene created by genetic engineering or gene editing. |
| GM2 gangliosidosis, HEXA-related, sheep (MONDO:1012690) |
A lysosomal storage disease that occurs in sheep due to a mutation in the HEXA gene. |
| GM2 gangliosidosis, rabbit (MONDO:1012691) |
A lysosomal storage disease that occurs in rabbits in which there is a buildup of GM2 gangliosides in the brain due to the lack of the enzyme β-hexosaminidase A. It is characterised by rapidly progression of neurological signs. |
| encephalopathy, STXBP1-related, crab-eating macaque (MONDO:1012925) |
Focal epilepsy that occurs in crab-eating macaque due to a mutation in the STXBP1 gene created by genetic engineering or gene editing. |
| congenital eye malformation, SIX6-related, dog (MONDO:1012808) |
Any inherited eye defect that occurs in dogs due to a mutation in the SIX6 gene. |
| paroxysmal dyskinesia, PIGN-related, dog (MONDO:1012781) |
Any paroxysmal dyskinesia that occurs in dogs due to a mutation in the PIGN gene. |
| autosomal dominant cystinuria, SLC3A1-related, dog (MONDO:1012744) |
Any autosomal dominant cystinuria that occurs in dogs due to a mutation in the SLC3A1 gene. |
| congenital myasthenic syndrome, CHRNE-related, dog (MONDO:1012620) |
Inherited disorder of neuromuscular transmission resulting in muscle weakness and fatigability exacerbated by exercise that occurs in dogs due to a mutation in the CHRNE gene. |
| GM2 gangliosidosis, HEXA-related, pig (MONDO:1012688) |
A lysosomal storage disease that occurs in pigs due to a mutation in the HEXA gene. |
| hemihydranencephaly (MONDO:1040007) |
A rare congenital brain disorder characterized by complete or almost near-complete unilateral absence of the cortical cortex, which is filled by a sac of cerebrospinal fluid. The presumed cause is a prenatal vascular disruption with occlusion of the carotid artery territories ipsilateral to the damaged brain. |
| dwarfism, GON4L-related, cattle (MONDO:1012766) |
Any dwarfism that occurs in cattle due to a mutation in the GON4L gene. |
| dwarfism, PRKG2-related, cattle (MONDO:1012695) |
Any dwarfism that occurs in cattle due to a mutation in the PRKG2 gene. |
| pituitary dwarfism, LHX3-related, dog (MONDO:1012857) |
Any pituitary dwarfism that occurs in dogs due to a mutation in the LHX3 gene. |
| cystinuria, non-human animal (MONDO:1012968) |
Cystinuria that occurs in non-human animals. |
| Nestor-Guillermo progeria syndrome (MONDO:0013523) |
A premature aging syndrome, autosomal recessive, characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life. |
| primary ciliary dyskinesia, CCDC65-related, sheep (MONDO:1012872) |
Primary ciliary dyskinesia that occurs in sheep due to a mutation in the CCDC65 gene. Homozygous affected lambs suffer from respiratory defects predisposing infectious pneumonia with a fatal ending at a young age. |
| autosomal recessive optic atrophy, OPA7 type (MONDO:0013069) |
An optic atrophy that is caused by a mutation in the TMEM126A gene. |
| GM2 gangliosidosis, domestic cat (MONDO:1012603) |
A lysosomal storage disease that occurs in cats in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age. |
| cone-rod dystrophy, NPHP4-related, dog (MONDO:1012685) |
Any cone-rod dystrophy that occurs in dogs due to a mutation in NPHP4 gene. |
| cleft palate, DLX6-related, dog (MONDO:1012750) |
Cleft palate that occurs in dogs due to a mutation in the DLX6 gene. |
| autosomal recessive cystinuria, SLC3A1-related, dog (MONDO:1012599) |
Any autosomal recessive cystinuria that occurs in dogs due to a mutation in the SLC3A1 gene. |
| cystinuria, SLC3A1-related, domestic cat (MONDO:1012600) |
Any cystinuria that occurs in cats due to a mutation in the SLC3A1 gene. |
| deafness, EPS8L2-related, dog (MONDO:1012934) |
Any hearing loss that occurs in dogs due to a mutation in the EPS8L2 gene. |
| craniomandibular osteopathy, SLC37A2-related, dog (MONDO:1012830) |
Any craniomandibular osteopathy that occurs in dogs due to a mutation in the SLC37A2 gene. |
| oculocutaneous albinism, TYR-related, cattle (MONDO:1012597) |
Oculocutaneous albinism that occurs in cattle due to a mutation in the TYR gene. |
| GM2 gangliosidosis, dog (MONDO:1012602) |
A lysosomal storage disease that occurs in dogs in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age. |
| Charcot-Marie-Tooth disease, non-human animal (MONDO:1012964) |
Charcot-Marie-Tooth disease that occurs in non-human animals. |
| oculocutaneous albinism, TYR-related, Japanese medaka (MONDO:1012589) |
Oculocutaneous albinism that occurs in Japanese medaka due to a mutation in the TYR gene. |
| epilepsy, mitochondrial dysfunction and neurodegeneration, PITRM1-related, dog (MONDO:1012863) |
A neurodegenerative brain disorder with mitochondrial dysfunction, amyloid-β accumulation, and lethal epilepsy that occurs in dogs due to a mutation in the PITRM1 gene. |
| choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome (MONDO:0035651) |
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. |
| congenital liver fibrosis, PKHD1-related, horse (MONDO:1012756) |
A developmental disorder of the biliary system caused by a congenital defect in the remodeling of the ductal plate at the level of the interlobular ducts, resulting in persistence of excessive abnormal embryonic bile duct structures, irregular portal veins, and progressive fibrosis of the portal tracts that occurs in horses due to a mutation in the PKHD1 gene. |
| oculocutaneous albinism, TYR-related, rabbit (MONDO:1012598) |
Oculocutaneous albinism that occurs in rabbits due to a mutation in the TYR gene. |
| primary open angle glaucoma, ADAMTS10-related, dog (MONDO:1012742) |
Any primary open angle glaucoma that occurs in dogs due to a mutation in the ADAMTS10 gene. |
| TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations (MONDO:1040001) |
Any developmental defect during embryogenesis in which the cause of the disease is a mutation in the TP63 gene. This disease is characterized by variable ectodermal dysplasia, limb defects, and orofacial clefting. |
| cleft lip, GADD45G-related, rabbit (MONDO:1012889) |
Cleft lip that occurs in rabbits due to a mutation in the GADD45G gene created by genetic engineering or gene editing. |
| Chiari-like malformation, dog (MONDO:1012741) |
Any Chiari malformation that occurs in dogs. |
| GM2 gangliosidosis, Muntjak deer (MONDO:1012689) |
A lysosomal storage disease that occurs in Muntjak deer in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme β-hexosaminidase A. It is characterised by depression, ataxia, circling and visual deficits from an early age. |
| cleft primary palate, ESRP2-related, chicken (MONDO:1012933) |
Cleft palate that occurs in chickens due to a mutation in the ESRP2 gene. |
| hearing loss disorder, non-human animal (MONDO:1012969) |
Hearing loss disorder that occurs in non-human animals |
| deafness, KLF7-related, dog (MONDO:1012865) |
Any hearing loss that occurs in dogs due to a mutation in the KLF7 gene. |
| liver disorder, non-human animal (MONDO:1012967) |
Liver disorder that occurs in non-human animals. |
| oculocutaneous albinism, TYR-related, Japanese raccoon dog (MONDO:1012588) |
Oculocutaneous albinism that occurs in Japanese raccoon dog due to a mutation in the TYR gene. |
| congenital disorder of glycosylation, non-human animal (MONDO:1012966) |
Congenital disorder of glycosylation that occurs in non-human animals. |
| GM2 gangliosidosis, HEXA-related, American flamingo (MONDO:1012686) |
A lysosomal storage disease that occurs in American flamingo due to a mutation in the HEXA gene. |
| PPFIA3-related neurodevelopmental disorder (MONDO:1040014) |
A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This disorder is characterised by developmental delay and intellectual disability. Most patients present variable additional features, including dysmorphisms, microcephaly or macrocephaly, hypotonia, autism spectrum disorder or autistic features, abnormal electroencephalogram, and epilepsy. |
| congenital myasthenic syndrome, CHRNE-related, cattle (MONDO:1012621) |
Inherited disorder of neuromuscular transmission resulting in progressive muscle weakness and mortality that occurs in young calves due to a mutation in the CHRNE gene. |
| cystinuria, SLC7A9-related, domestic cat (MONDO:1012773) |
Any cystinuria that occurs in cats due to a mutation in the SLC7A9 gene. |
| sex-limited cystinuria, dog (MONDO:1012746) |
Any androgen-dependent cystinuria that occurs in intact male dogs. |
| CTR9-related neurodevelopmental disorder (MONDO:1040006) |
Any neurodevelopmental disorder in which the cause of the disease is a variation in the CTR9 gene. This disorder is characterised by varying degrees of intellectual disability, neurodevelopmental delay, hypotonia, fatigability, behavioral abnormalities including autism spectrum disorder, anxiety and aggressive behavior, cardiac anomalies, and mild facial dysmorphism. |
| epidermolysis bullosa simplex, PLEC-related, dog (MONDO:1012778) |
Any epidermolysis bullosa simplex that occurs in dogs due to a mutation in the PLEC gene. |
| cerebral dysgenesis, PEA15 related, domestic cat (MONDO:1012847) |
Abnormal development of the telencephalon characterized by microcephaly and polymicrogyria that occurs in cats due to a mutation in the PEA15 gene. |
| CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy (MONDO:1040008) |
A neurodevelopmental disorder caused by variation in the CAMK2D gene. This disorder is characterised by intellectual disability, speech and motor delay, behavioural problems and dilated cardiomyopathy. Patients often present brain structural anomalies and hypotonia, and less frequently, seizures. |
| Charcot Marie Tooth disease, FGD4-related, cattle (MONDO:1012882) |
Charcot-Marie-Tooth disease that occurs in cattle due to a mutation in the FGD4 gene. |
| cholesterol deficiency, APOB-related, cattle (MONDO:1012760) |
Low plasma cholesterol concentration that occurs in cattle due to a mutation in the APOB gene mutation. The “cholesterol deficiency” is a consequence of a decreased ability to be incorporated into lipoproteins for transport in circulation. |
| osteochondrodysplasia, SLC13A1-related, dog (MONDO:1012675) |
Hereditary osteochondrodysplasia that occurs in dogs due to a mutation in the SLC13A1 gene. |
| oculocutaneous albinism, TYR-related, American mink (MONDO:1012587) |
Oculocutaneous albinism that occurs in American mink due to a mutation in the TYR gene. |
| skeletal dysplasia, non-human animal (MONDO:1012973) |
Skeletal dysplasia that occurs in non-human animals. |
| PRPF19-related neurodevelopmental disorder (MONDO:1040005) |
Any neurodevelopmental disorder in which the cause of the disease is a mutation in the PRPF19 gene. This disorder is characterised by developmental, motor and speech delay, and facial dysmorphisms. Most patients present mild to moderate intellectual disability, autism spectrum disorder or autistic features, and hypotonia. Other phenotypes observed less frequently include seizures, and visual and cardiac abnormalities. |
| dental-skeletal-retinal anomaly, MIA3-related, dog (MONDO:1012909) |
Brittle, discolored, translucent teeth, disproportionate growth and progressive retinal degeneration resulting in vision loss that occurs in dogs due to a mutation in the MIA3 gene. |
| cleft palate, MYH3-related, cattle (MONDO:1012941) |
Cleft palate that occurs in cattle due to a mutation in the MYH3 gene. |
| chondrodysplasia, UGDH-related, domestic cat (MONDO:1012932) |
Hereditary chondrodysplasia that occurs in cats due to a mutation in the UGDH gene. |
| dwarfism, PRKG2-related, dog (MONDO:1012694) |
Any dwarfism that occurs in dogs due to a mutation in the PRKG2 gene. |
| oculocutaneous albinism, TYR-related, dog (MONDO:1012592) |
Oculocutaneous albinism that occurs in dogs due to a mutation in the TYR gene. |
| hereditary chondrodysplasia, dog (MONDO:1012738) |
Any hereditary chondrodysplaisa that occurs in dogs characterized by short limbs and radius curvus deformity. |
| congenital muscular dystrophy, LAMA2-related, dog (MONDO:1012906) |
Any muscular dystrophy that occurs in dogs due to a mutation in the LAMA2 gene. |
| oculocutaneous albinism, TYR-related, tufted capuchin (MONDO:1012591) |
Oculocutaneous albinism that occurs in tufted capuchin due to a mutation in the TYR gene. |
| 22q-related schwannomatosis (MONDO:1030016) |
A schwannomatosis that causes a predisposition to develop multiple schwannoma. It is diagnosed when an individual does not meet criteria for NF2-related schwannomatosis, SMARCB1-related schwannomatosis, or LTZR1-related schwannomatosis and both of the following molecular features exist: a loss of heterozygosity (LOH) of the same chromosome 22q markers in two anatomically distinct tumors or hybrid nerve sheath tumors and a different NF2 pathogenic variant in each tumor which cannot be detected in unaffected tissue. |
| NDUFB11-related disorders (MONDO:1040023) |
A group of rare genetic conditions caused by variants in the NDUFB11 gene. Presentation is heterogenous including neurologic, cardiac, ocular, and dermatological abnormalities. |
| oculocutaneous albinism, TYR-related, red fox (MONDO:1012593) |
Oculocutaneous albinism that occurs in red fox due to a mutation in the TYR gene. |
| cryopyrin-associated periodic syndrome, NLRP3-related, pig (MONDO:1012908) |
Spontaneous systemic inflammation signs and increased delayed hypersensitivity response that occurs in pigs due to a mutation in the NLRP3 gene created by genetic engineering or gene editing. |
| congenital muscular dystonia SLC6A5-related, cattle (MONDO:1012684) |
Lateral recumbency, low head carriage and transient muscle spasms following tactile or auditory stimulation that occurs in cattle due to a mutation in the SLC6A5 gene. |
| dwarfism, ACAN-related, horse (MONDO:1012662) |
Any dwarfism that occurs in horses due to a mutation in the ACAN gene. |
| chondrodysplasia, SLC13A1-related, sheep (MONDO:1012676) |
Hereditary chondrodysplasia that occurs in sheep due to a mutation in the SLC13A1 gene. |
| dwarfism, ACAN-related, cattle (MONDO:1012663) |
Any dwarfism that occurs in cattle due to a mutation in the ACAN gene. |
| epidermolysis bullosa simplex, KRT14-related, domestic cat (MONDO:1012837) |
Any epidermolysis bullosa simplex that occurs in cats due to a mutation in the KRT14 gene. |
| fragile X syndrome, FMR1-related, white-tufted-ear marmoset (MONDO:1012904) |
Any hereditary neurological disease that occurs in white-tufted-ear marmoset due to a mutation in the FMR1 gene created by genetic engineering or gene editing. |
| linkeropathy (MONDO:1040022) |
Group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region. |
| oculocutaneous albinism, HPS5-related, three-spined stickleback (MONDO:1012793) |
Oculocutaneous albinism that occurs in three-spined stickleback due to a mutation in the HPS5 gene. |
| encephalopathy, ASPA-related, domestic cat (MONDO:1012864) |
A spongy encephalopathy that occurs in cats due to a mutation in the ASPA gene. |
| dilated cardiomyopathy, RBM20-related, dog (MONDO:1012877) |
Any dilated cardiomyopathy that occurs in dogs due to a mutation in the RBM20 gene. |
| dilated cardiomyopathy, DMD-related, rabbit (MONDO:1012850) |
X-linked dilated cardiomyopathy that occurs in rabbits due to a mutation in the DMD gene created by genetic engineering or gene editing. |
| paroxysmal dyskinesia, SOD1-related, dog (MONDO:1012862) |
Any paroxysmal dyskinesia that occurs in dogs due to a mutation in the SOD1 gene. |
| autosomal dominant cystinuria, SLC7A9-related, dog (MONDO:1012745) |
Any autosomal dominant cystinuria that occurs in dogs due to a mutation in the SLC7A9 gene. |
| dwarfism, B4GALT7-related, horse (MONDO:1012777) |
Any dwarfism that occurs in horses due to a mutation in the B4GALT7 gene. |
| oculocutaneous albinism, TYR-related, domestic cat (MONDO:1012595) |
Oculocutaneous albinism that occurs in cats due to a mutation in the TYR gene. |
| GM2 gangliosidosis, pig (MONDO:1012604) |
A lysosomal storage disease that occurs in pigs in which there is a buildup of GM2 gangliosides in tissues due to the lack of the enzyme hexosaminidase. It is characterised by progressive neuromuscular dysfunction and impaired growth from an early age. |
| tumor predisposition syndrome 2 (MONDO:0859267) |
An autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. The most common clinical manifestations include acute myeloid leukemia (AML), myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma. |
| dwarfism, ANKRD28-related, cattle (MONDO:1012943) |
Any dwarfism that occurs in cattle due to a mutation in the ANKRD28 gene. |
| pituitary dwarfism, POU1F1-related, dog (MONDO:1012858) |
Any pituitary dwarfism that occurs in dogs due to a mutation in the POU1F1 gene. |
| oculocutaneous albinism, HPS5-related, domestic cat (MONDO:1012794) |
Oculocutaneous albinism that occurs in cats due to a mutation in the HPS5 gene. |
| deafness, LOXHD1-related, dog (MONDO:1012871) |
Any hearing loss that occurs in dogs due to a mutation in the LOXHD1 gene. |
| deafness, OTOF-related, sheep (MONDO:1012891) |
Any hearing loss that occurs in sheep due to a mutation in the OTOF gene created by genetic engineering or gene editing. |
| KCND2-related neurodevelopmental disorder with or without seizures (MONDO:1040003) |
A neurodevelopmental disorder caused by variation in the KCND2 gene. This disorder is characterized by early-onset global developmental delay with impaired motor, speech and cognitive development. Patients often present muscle hypotonia, and less frequently, developmental epileptic encephalopathy, visual impairment and physical dysmorphisms. |
| oculocutaneous albinism, TYR-related, water buffalo (MONDO:1012590) |
Oculocutaneous albinism that occurs in water buffalo due to a mutation in the TYR gene. |
| Ehlers-Danlos syndrome with absence of dermatan sulfate proteoglycan, cattle (MONDO:1012733) |
Any Ehlers-Danlos syndrome that occurs in cattle with absence of dermatan sulfate proteoglycan. |
| mitochondrial oxidative phosphorylation disorder (MONDO:0016387) |
A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system. |
| oculocutaneous albinism, TYR-related, Japanese ratsnake (MONDO:1012586) |
Oculocutaneous albinism that occurs in Japanese ratsnake due to a mutation in the TYR gene. |
| neurodevelopmental disorder with severe motor impairment and absent language (MONDO:0060622) |
A complex neurodevelopmental disorder caused by variation in DHX30. Individuals with variants in DHX30 have been found to have variable presentations including intellectual development, delayed or absent speech development, delayed motor development, hypotonia, feeding difficulties, and ataxic gait or the inability to walk. Other phenotypic features commonly reported include sleep disorders, autistic features, seizures, and joint hypermobility |
| epidermolysis bullosa simplex, KRT5-related, dog (MONDO:1012779) |
Any epidermolysis bullosa simplex that occurs in dogs due to a mutation in the KRT5 gene. |
| primary ciliary dyskinesia, NME5-related, dog (MONDO:1012807) |
Primary ciliary dyskinesia that occurs in dogs due to a mutation in the NME5 gene. |
| hereditary neurological disease, non-human animal (MONDO:1012972) |
Hereditary neurological disease that occurs in non-human animals. |
| sex-linked dwarfism, GHR-related, chicken (MONDO:1012601) |
Any sex-linked dwarfism that occurs in chickens due to a mutation in the GHR gene. |
