| 2,8-dihydroxyadenine (DHA) Urolithiasis | Neuroaxonal Dystrophy (Discovered in the Papillon) |
| Acral Mutilation Syndrome | Neuroaxonal Dystrophy (Discovered in the Rottweiler) |
| Acute Respiratory Distress Syndrome | Neuronal Ceroid Lipofuscinosis 1 |
| Alaskan Husky Encephalopathy | Neuronal Ceroid Lipofuscinosis 7 |
| Alexander Disease | Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Alpine Dachsbracke) |
| Amelogenesis Imperfecta | Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Australian Shepherd) |
| Bandera's Neonatal Ataxia | Neuronal Ceroid Lipofuscinosis 8 (Discovered in the English Setter) |
| Benign Familial Juvenile Epilepsy | Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Saluki) |
| Canine Leukocyte Adhesion Deficiency (CLAD), type III | Neuronal Ceroid Lipofuscinosis 12 (Discovered in the Australian Cattle Dog) |
| Canine Multifocal Retinopathy 1 | Obesity risk (POMC) |
| Canine Multifocal Retinopathy 2 | Osteochondrodysplasia |
| Canine Multifocal Retinopathy 3 | Osteochondromatosis (Discovered in the American Staffordshire Terrier) |
| Canine Scott Syndrome | Osteogenesis Imperfecta (Discovered in the Beagle) |
| Centronuclear Myopathy (Discovered in the Great Dane) | Osteogenesis Imperfecta (Discovered in the Dachshund) |
| Centronuclear Myopathy (Discovered in the Labrador Retriever) | P2RY12-associated Bleeding Disorder |
| Cerebellar Ataxia | Paroxysmal Dyskinesia |
| Cerebellar Cortical Degeneration | Persistent Müllerian Duct Syndrome |
| Cerebellar Hypoplasia | Phosphofructokinase Deficiency |
| Cerebral Dysfunction | Polycystic Kidney Disease |
| Chondrodysplasia | Prekallikrein Deficiency |
| Cleft Lip & Palate with Syndactyly | Primary Ciliary Dyskinesia |
| Cleft Palate | Primary Ciliary Dyskinesia (Discovered in the Alaskan Malamute) |
| Complement 3 Deficiency | Primary Lens Luxation |
| Cone Degeneration (Discovered in the Alaskan Malamute) | Primary Open Angle Glaucoma (Discovered in Basset Fauve de Bretagne) |
| Cone Degeneration (Discovered in the German Shepherd Dog) | Primary Open Angle Glaucoma (Discovered in Petit Basset Griffon Vendeen) |
| Cone Degeneration (Discovered in the German Shorthaired Pointer) | Primary Open Angle Glaucoma and Lens Luxation (Discovered in Chinese Shar-Pei) |
| Cone-Rod Dystrophy | Progressive Early-Onset Cerebellar Ataxia |
| Cone-Rod Dystrophy 1 | Progressive Retinal Atrophy (Discovered in the Basenji) |
| Cone-Rod Dystrophy 2 | Progressive Retinal Atrophy (Discovered in the Golden Retriever - GR-PRA1 variant) |
| Congenital Dyshormonogenic Hypothyroidism with Goiter (Discovered in the Shih Tzu) | Progressive Retinal Atrophy (Discovered in the Lhasa Apso) |
| Congenital Hypothyroidism (Discovered in the Tenterfield Terrier) | Progressive Retinal Atrophy (Discovered in the Papillon and Phalène) |
| Congenital Hypothyroidism (Discovered in the Toy Fox and Rat Terrier) | Progressive Retinal Atrophy (Discovered in the Shetland Sheepdog - BBS2 variant) |
| Congenital Myasthenic Syndrome (Discovered in the Golden Retriever) | Progressive Retinal Atrophy (Discovered in the Shetland Sheepdog - CNGA1 variant) |
| Congenital Myasthenic Syndrome (Discovered in the Jack Russell Terrier) | Progressive Retinal Atrophy (Discovered in the Swedish Vallhund) |
| Congenital Myasthenic Syndrome (Discovered in the Labrador Retriever) | Progressive Retinal Atrophy 1 (Discovered in the Italian Greyhound) |
| Congenital Myasthenic Syndrome (Discovered in the Old Danish Pointer) | Progressive Retinal Atrophy Type III |
| Congenital Stationary Night Blindness (CSNB) | Protein Losing Nephropathy |
| Craniomandibular Osteopathy | Pyruvate Dehydrogenase Phosphatase 1 Deficiency |
| Cystic Renal Dysplasia and Hepatic Fibrosis | Pyruvate Kinase Deficiency (Discovered in the Basenji) |
| Cystinuria Type I-A | Pyruvate Kinase Deficiency (Discovered in the Beagle) |
| Cystinuria Type II-A | Pyruvate Kinase Deficiency (Discovered in the Pug) |
| Deafness and Vestibular Dysfunction (Discovered in Doberman Pinscher) | Pyruvate Kinase Deficiency (Discovered in the West Highland White Terrier) |
| Degenerative Myelopathy | QT Syndrome |
| Demyelinating Neuropathy | Renal Cystadenocarcinoma and Nodular Dermatofibrosis |
| Dental Hypomineralization | Rod-Cone Dysplasia 1 |
| Dilated Cardiomyopathy (Discovered in the Schnauzer) | Rod-Cone Dysplasia 1a |
| Dominant Progressive Retinal Atrophy | Rod-Cone Dysplasia 3 |
| Dystrophic Epidermolysis Bullosa (Discovered in the Central Asian Ovcharka) | Sensory Ataxic Neuropathy |
| Dystrophic Epidermolysis Bullosa (Discovered in the Golden Retriever) | Sensory Neuropathy |
| Early Retinal Degeneration (Discovered in the Norwegian Elkhound) | Severe Combined Immunodeficiency |
| Early-onset PRA (Discovered in the Portuguese Water Dog) | Severe Combined Immunodeficiency (Discovered in Frisian Water Dogs) |
| Early-Onset Progressive Polyneuropathy (Discovered in the Alaskan Malamute) | Shaking Puppy Syndrome (Discovered in the Border Terrier) |
| Early-Onset Progressive Polyneuropathy (Discovered in the Greyhound) | Skeletal Dysplasia 2 |
| Enamel Hypoplasia (Discovered in the Parson Russell Terrier) | Spinocerebellar Ataxia (Late-Onset Ataxia) |
| Epidermolytic Hyperkeratosis | Spinocerebellar Ataxia with Myokymia and/or Seizures |
| Episodic Falling Syndrome | Spondylocostal Dysostosis |
| Exercise-Induced Collapse | Spongy Degeneration with Cerebellar Ataxia (Discovered in Belgian Malinois - SDCA1) |
| Factor VII Deficiency | Spongy Degeneration with Cerebellar Ataxia (Discovered in Belgian Malinois - SDCA2) |
| Factor XI Deficiency | Stargardt Disease (Discovered in the Labrador Retriever) |
| Fanconi Syndrome | Trapped Neutrophil Syndrome |
| Fetal Onset Neuroaxonal Dystrophy | Van den Ende-Gupta Syndrome |
| Focal Non-Epidermolytic Palmoplantar Keratoderma | von Willebrand's Disease, type 1 |
| Generalized Progressive Retinal Atrophy (Discovered in the Schapendoes) | von Willebrand's Disease, type 2 |
| Glanzmann Thrombasthenia Type I | von Willebrand's Disease, type 3 (Discovered in the Kooiker Hound) |
| Glanzmann Thrombasthenia Type I (Discovered in Great Pyrenees) | von Willebrand's Disease, type 3 (Discovered in the Scottish Terrier) |
| Globoid Cell Leukodystrophy (Discovered in Terriers) | von Willebrand's Disease, type 3 (Discovered in the Shetland Sheepdog) |
| Globoid Cell Leukodystrophy (Discovered in the Irish Setter) | X-Linked Ectodermal Dysplasia |
| Glycogen Storage Disease Type Ia | X-Linked Hereditary Nephropathy (Discovered in the Navasota Dog) |
| Glycogen Storage Disease Type IIIa, (GSD IIIa) | X-Linked Hereditary Nephropathy (Discovered in the Samoyed) |
| GM1 Gangliosidosis (Discovered in the Portuguese Water Dog) | X-Linked Myotubular Myopathy |
| GM1 Gangliosidosis (Discovered in the Shiba) | X-Linked Progressive Retinal Atrophy 1 |
| GM2 Gangliosidosis (Discovered in the Japanese Chin) | X-Linked Progressive Retinal Atrophy 2 |
| GM2 Gangliosidosis (Discovered in the Toy Poodle) | X-Linked Severe Combined Immunodeficiency (Discovered in the Basset Hound) |
| Hemophilia A (Discovered in Old English Sheepdog) | X-Linked Severe Combined Immunodeficiency (Discovered in the Cardigan Welsh Corgi) |
| Hemophilia A (Discovered in the Boxer) | X-Linked Tremors |
| Hemophilia A (Discovered in the German Shepherd Dog - Variant 1) | Xanthinuria (Discovered in a mixed breed dog) |
| Hemophilia A (Discovered in the German Shepherd Dog - Variant 2) | Xanthinuria (Discovered in the Cavalier King Charles Spaniel) |
| Hemophilia A (Discovered in the Havanese) | Xanthinuria (Discovered in the Toy Manchester Terrier) |
| Hemophilia B | Limb-girdle Muscular Dystrophy (Discovered in the Boston Terrier) |
| Hemophilia B (Discovered in the Airedale Terrier) | Bernard-Soulier Syndrome (Discovered in the Cocker Spaniel) |
| Hemophilia B (Discovered in the Lhasa Apso) | Inflammatory Myopathy (Discovered in the Dutch Shepherd Dog) |
| Hereditary Ataxia (Discovered in the Norwegian Buhund) | Sensorineural deafness (Discovered in the Rottweiler) |
| Hereditary Elliptocytosis | Craniomandibular Osteopathy (CMO), (Discovered in the Weimaraner) |
| Hereditary Footpad Hyperkeratosis | Familial Nephropathy (FN), (Discovered in the English Cocker Spaniel) |
| Hereditary Nasal Parakeratosis (Discovered in the Greyhound) | Canine Multiple Systems Degeneration (Discovered in the Chinese Crested Dog) |
| Hereditary Nasal Parakeratosis (Discovered in the Labrador Retriever) | Familial Nephropathy (FN), (Discovered in the English Springer Spaniel) |
| Hereditary Vitamin D-Resistant Rickets Type II | Congenital Myasthenic Syndrome, CMS (Discovered in the Heideterrier) |
| Hyperekplexia or Startle Disease | Pituitary Dwarfism (Discovered in the Karelian Bear Dog) |
| Hyperuricosuria | Bilateral Deafness and Vestibular Dysfunction, MYO7A gene variant (Discovered in Doberman Pinscher) |
| Hypocatalasia | Glycogen Storage Disease Type Ia (GSD Ia; Discovered in the German Pinscher) |
| Hypomyelination | Disproportionate Dwarfism (Discovered in the Dogo Argentino) |
| Hypophosphatasia | Laryngeal paralysis (Miniature Bull Terriers) |
| Ichthyosis (Discovered in the American Bulldog) | Dental-Skeletal-Retinal Anomaly (Discovered in the Cane Corso) |
| Ichthyosis (Discovered in the Great Dane) | Junctional Epidermolysis bullosa (Discovered in the Australian Shepherd) |
| Intestinal Cobalamin Malabsorption (Discovered in the Beagle) | Darier Disease (Discovered in the Irish Terrier) |
| Intestinal Cobalamin Malabsorption (Discovered in the Border Collie) | Coat color dilution and neurological defects (Discovered in the Miniature Dachshund) |
| Intestinal Cobalamin Malabsorption (Discovered in the Komondor) | Congenital Muscular Dystrophy (Discovered in the Staffordshire Bull Terrier) |
| Juvenile Encephalopathy (Discovered in the Parson Russell Terrier) | Muscular dystrophy-dystroglycanopathy (Discovered in the Labrador Retriever) |
| Juvenile Laryngeal Paralysis and Polyneuropathy | Early onset adult deafness (EOAD), (Discovered in the Rhodesian Ridgeback) |
| Juvenile Myoclonic Epilepsy | Ehlers-Danlos syndrome (Discovered in the Labrador Retriever) |
| L-2-Hydroxyglutaric Aciduria | Dystrophic Epidermolysis Bullosa (Discovered in the Basset Hound) |
| L-2-Hydroxyglutaric Aciduria (Discovered in the Westie) | Hereditary Ataxia (Discovered in the Belgian Malinois) |
| Lagotto Storage Disease | Juvenile Dilated Cardiomyopathy (Discovered in the Toy Manchester Terrier) |
| Lamellar Ichthyosis | Succinic Semialdehyde Dehydrogenase Deficiency (Discovered in the Saluki) |
| Lethal Acrodermatitis (Discovered in the Bull Terrier) | Leigh-Like Subacute Necrotizing Encephalopathy (SNE) (Discovered in the Yorkshire Terrier) |
| Ligneous Membranitis | Inflammatory pulmonary disease (AKNA) (Discovered in Rough Collies) |
| Lung Developmental Disease (Discovered in the Airedale Terrier) | Junctional epidermolysis bullosa (Discovered in Australian Cattle Dog Mix) |
| Macrothrombocytopenia | Craniomandibular Osteopathy (CMO), (Discovered in the Australian Terrier) |
| May-Hegglin Anomaly | Ehlers-Danlos syndrome (Discovered in mixed breed) |
| MDR1 Medication Sensitivity | Juvenile Cataract (Discovered in the Wirehaired Pointing Griffon) |
| Microphthalmia (Discovered in the Soft-Coated Wheaten Terrier) | CNS atrophy with cerebellar ataxia (Discovered in the Belgian Shepherd) |
| Mucopolysaccharidosis Type IIIA (Discovered in the Dachshund) | Palmoplantar hyperkeratosis (Discovered in the Rottweiler) |
| Mucopolysaccharidosis Type IIIA (Discovered in the New Zealand Huntaway) | Cardiomyopathy and juvenile mortality (Discovered in the Belgian Shepherd) |
| Mucopolysaccharidosis Type VII (Discovered in the Brazilian Terrier) | Canine congenital stationary night blindness |
| Mucopolysaccharidosis Type VII (Discovered in the German Shepherd Dog) | Congenital Muscular Dystrophy (Discovered in the Italian Greyhound) |
| Muscular Dystrophy (Discovered in the Cavalier King Charles Spaniel) | Congenital Eye Malformations (Discovered in the Golden Retriever) |
| Muscular Dystrophy (Discovered in the Golden Retriever) | Intestinal Lipid Malabsorption (Discovered in the Australian Kelpie) |
| Muscular Dystrophy (Discovered in the Landseer) | Leukodystrophy (Discovered in the Standard Schnauzer) |
| Muscular Dystrophy (Discovered in the Norfolk Terrier) | Limb-girdle muscular dystrophy (Discovered in the Miniature Dachshund) |
| Muscular Hypertrophy (Double Muscling) | Mucopolysaccharidosis VI (MPS VI) (Discovered in the Miniature Pinscher) |
| Musladin-Lueke Syndrome | Hereditary Calcium Oxalate Urolithiasis, Type 1 |
| Myeloperoxidase Deficiency | Early-Onset PRA (EOPRA; Discovered in the Spanish Water Dog) |
| Myotonia Congenita | Ichthyosis type 2 (ICH2) (Discovered in the Golden Retriever) |
| Myotonia Congenita (Discovered in the Labrador Retriever) | Craniomandibular Osteopathy, (CMO), (Discovered in the Basset Hound) |
| Myotonia Congenita (Discovered in the Miniature Schnauzer) | Congenital Cornification (Discovered in the Labrador Retriever) |
| Myotubular Myopathy | Progressive Retinal Atrophy (Discovered in the Lapponian Herder) |
| Narcolepsy (Discovered in the Dachshund) | Lafora Disease (Linkage Test) |
| Narcolepsy (Discovered in the Labrador Retriever) | Neuronal Ceroid Lipofuscinosis 5 (NCL5), (Discovered in the Golden Retriever) |
| Nemaline Myopathy | Enamel hypoplasia (Discovered in the Lancashire Heeler) |
| Neonatal Cerebellar Cortical Degeneration | Hemophilia A (Discovered in the Labrador) |
| Neonatal Encephalopathy with Seizures | Startle disease (Discovered in the Miniature American Shepherd) |
| Neuroaxonal Dystrophy | Progressive Retinal Atrophy, GR-PRA2 (Discovered in the Golden Retriever) |
| Thrombopathia (Discovered in the Basset Hound) |
| Thrombopathia (Discovered in the Eskimo Spitz) |
| Neuronal Ceroid Lipofuscinosis 5 (NCL5), (Discovered in the Border Collie) |
| Chondrodystrophy (CDDY) and Intervertebral Disc Disease Risk (IVDD) |
