- 2,8-dihydroxyadenine (DHA) Urolithiasis
- Acral Mutilation Syndrome
- Acute Respiratory Distress Syndrome
- Alaskan Husky Encephalopathy
- Alexander Disease
- Amelogenesis Imperfecta
- Bandera's Neonatal Ataxia
- Benign Familial Juvenile Epilepsy
-
Bernard-Soulier Syndrome (Discovered in the Cocker Spaniel)
-
Bilateral Deafness and Vestibular Dysfunction, MYO7A gene variant (Discovered in Doberman Pinscher)
-
Canine congenital stationary night blindness
- Canine Leukocyte Adhesion Deficiency (CLAD), type III
- Canine Multifocal Retinopathy 1
- Canine Multifocal Retinopathy 2
- Canine Multifocal Retinopathy 3
- Canine Multiple Systems Degeneration (Discovered in the Chinese Crested Dog)
- Canine Scott Syndrome
- Cardiomyopathy and juvenile mortality (Discovered in the Belgian Shepherd)
- Centronuclear Myopathy (Discovered in the Great Dane)
- Centronuclear Myopathy (Discovered in the Labrador Retriever)
- Cerebellar Ataxia
- Cerebellar Cortical Degeneration
- Cerebellar Hypoplasia
- Cerebral Dysfunction
- Chondrodysplasia
- Chondrodystrophy (CDDY) and Intervertebral Disc Disease Risk (IVDD)
- Cleft Lip & Palate with Syndactyly
- Cleft Palate
- CNS atrophy with cerebellar ataxia (Discovered in the Belgian Shepherd)
- Coat color dilution and neurological defects (Discovered in the Miniature Dachshund)
- Collie Eye Anomaly (CEA)
- Complement 3 Deficiency
- Cone Degeneration (Discovered in the Alaskan Malamute)
- Cone Degeneration (Discovered in the German Shepherd Dog)
- Cone Degeneration (Discovered in the German Shorthaired Pointer)
- Cone-Rod Dystrophy
- Cone-Rod Dystrophy 1
- Cone-Rod Dystrophy 2
- Congenital Cornification (Discovered in the Labrador Retriever)
- Congenital Dyshormonogenic Hypothyroidism with Goiter (Discovered in the Shih Tzu)
- Congenital Eye Malformations (Discovered in the Golden Retriever)
- Congenital Hypothyroidism (Discovered in the Tenterfield Terrier)
- Congenital Hypothyroidism (Discovered in the Toy Fox and Rat Terrier)
- Congenital Muscular Dystrophy (Discovered in the Italian Greyhound)
- Congenital Muscular Dystrophy (Discovered in the Staffordshire Bull Terrier)
- Congenital Myasthenic Syndrome (Discovered in the Golden Retriever)
- Congenital Myasthenic Syndrome, CMS (Discovered in the Heideterrier)
- Congenital Myasthenic Syndrome (Discovered in the Jack Russell Terrier)
- Congenital Myasthenic Syndrome (Discovered in the Labrador Retriever)
- Congenital Myasthenic Syndrome (Discovered in the Old Danish Pointing Dog)
- Congenital Stationary Night Blindness (CSNB)
- Craniomandibular Osteopathy
- Craniomandibular Osteopathy (CMO), (Discovered in the Australian Terrier)
- Craniomandibular Osteopathy, (CMO), (Discovered in the Basset Hound)
- Craniomandibular Osteopathy (CMO), (Discovered in the Weimaraner)
- Cystic Renal Dysplasia and Hepatic Fibrosis
- Cystinuria Type I-A
- Cystinuria Type II-A
- Darier Disease (Discovered in the Irish Terrier)
- Deafness and Vestibular Dysfunction (Discovered in Doberman Pinscher)
- Degenerative Myelopathy
- Demyelinating Neuropathy
- Dental Hypomineralization
-
Dental-Skeletal-Retinal Anomaly (Discovered in the Cane Corso)
- Dermatomyositis MAP3K7CL variant (Relevant in the Shetland Sheepdog and Collie)
- Dermatomyositis PAN2 variant (Relevant in the Shetland Sheepdog and Collie)
- Dilated Cardiomyopathy (Discovered in the Doberman) (variants 1-4)
-
Dilated Cardiomyopathy (Discovered in the Schnauzer)
- Disproportionate Dwarfism (Discovered in the Dogo Argentino)
- Dominant Progressive Retinal Atrophy
- Dystrophic Epidermolysis Bullosa (Discovered in the Basset Hound)
- Dystrophic Epidermolysis Bullosa (Discovered in the Central Asian Ovcharka)
- Dystrophic Epidermolysis Bullosa (Discovered in the Golden Retriever)
- Early Adult Onset Deafness For Border Collies only (Linkage test)
- Early onset adult deafness (EOAD), (Discovered in the Rhodesian Ridgeback)
- Early Retinal Degeneration (Discovered in the Norwegian Elkhound)
- Early-Onset PRA (Discovered in the Portuguese Water Dog)
- Early-Onset PRA (EOPRA; Discovered in the Spanish Water Dog)
- Early-Onset Progressive Polyneuropathy (Discovered in the Alaskan Malamute)
- Early-Onset Progressive Polyneuropathy (Discovered in the Greyhound)
- Ehlers-Danlos syndrome (Discovered in the Labrador Retriever)
- Ehlers-Danlos syndrome (Discovered in mixed breed)
- Enamel Hypoplasia (Discovered in the Lancashire Heeler)
- Enamel Hypoplasia (Discovered in the Parson Russell Terrier)
- Epidermolytic Hyperkeratosis
- Episodic Falling Syndrome
- Exercise-Induced Collapse
- Factor VII Deficiency
- Factor XI Deficiency
- Familial Nephropathy (FN), (Discovered in the English Cocker Spaniel)
- Familial Nephropathy (FN), (Discovered in the English Springer Spaniel)
- Fanconi Syndrome
- Fetal Onset Neuroaxonal Dystrophy
- Focal Non-Epidermolytic Palmoplantar Keratoderma
- Generalized Progressive Retinal Atrophy (Discovered in the Schapendoes)
- Glanzmann Thrombasthenia Type I
- Glanzmann Thrombasthenia Type I (Discovered in Great Pyrenees)
- Globoid Cell Leukodystrophy (Discovered in Terriers)
- Globoid Cell Leukodystrophy (Discovered in the Irish Setter)
- Glycogen Storage Disease Type Ia (GSD Ia; Discovered in the German Pinscher)
- Glycogen Storage Disease Type IIIa, (GSD IIIa)
- GM1 Gangliosidosis (Discovered in the Portuguese Water Dog)
- GM1 Gangliosidosis (Discovered in the Shiba)
- GM2 Gangliosidosis (Discovered in the Japanese Chin)
- GM2 Gangliosidosis (Discovered in the Toy Poodle)
- Hemophilia A (Discovered in Old English Sheepdog)
- Hemophilia A (Discovered in the Boxer)
- Hemophilia A (Discovered in the German Shepherd Dog - Variant 1)
- Hemophilia A (Discovered in the German Shepherd Dog - Variant 2)
- Hemophilia A (Discovered in the Havanese)
- Hemophilia A (Discovered in the Labrador)
- Hemophilia B
- Hemophilia B (Discovered in the Airedale Terrier)
- Hemophilia B (Discovered in the Lhasa Apso)
- Hereditary Ataxia (Discovered in the Belgian Malinois)
- Hereditary Ataxia (Discovered in the Norwegian Buhund)
- Hereditary Calcium Oxalate Urolithiasis, Type 1
- Hereditary Elliptocytosis
- Hereditary Footpad Hyperkeratosis
- Hereditary Nasal Parakeratosis (Discovered in the Greyhound)
- Hereditary Nasal Parakeratosis (Discovered in the Labrador Retriever)
- Hereditary Vitamin D-Resistant Rickets Type II
- Hyperekplexia or Startle Disease
- Hyperuricosuria
- Hypocatalasia
- Hypomyelination
- Hypophosphatemia
- Ichthyosis (Discovered in the American Bulldog)
- Ichthyosis (Discovered in the Great Dane)
- Ichthyosis type 2 (ICH2) (Discovered in the Golden Retriever)
- Inflammatory Myopathy (Discovered in the Dutch Shepherd Dog)
- Inflammatory pulmonary disease (AKNA)(Discovered in Rough Collies)
- Intestinal Cobalamin Malabsorption (Discovered in the Beagle)
- Intestinal Cobalamin Malabsorption (Discovered in the Border Collie)
- Intestinal Cobalamin Malabsorption (Discovered in the Komondor)
- Intestinal Lipid Malabsorption (Discovered in the Australian Kelpie)
- Junctional Epidermolysis bullosa (Discovered in Australian Cattle Dog Mix)
- Junctional Epidermolysis bullosa (Discovered in the Australian Shepherd)
- Juvenile Cataract (Discovered in the Wirehaired Pointing Griffon)
- Juvenile Dilated Cardiomyopathy (Discovered in the Toy Manchester Terrier)
- Juvenile Encephalopathy (Discovered in the Parson Russell Terrier)
- Juvenile Laryngeal Paralysis and Polyneuropathy
- Juvenile Myoclonic Epilepsy
- L-2-Hydroxyglutaric Aciduria
- L-2-Hydroxyglutaric Aciduria (Discovered in the Westie)
- Lafora Disease (Linkage Test)
- Lagotto Storage Disease
- Laryngeal paralysis (Miniature Bull Terriers)
- Lamellar Ichthyosis
- Leigh-Like Subacute Necrotizing Encephalopathy (SNE) (Discovered in the Yorkshire Terrier)
- Lethal Acrodermatitis (Discovered in the Bull Terrier)
- Leukodystrophy (Discovered in the Standard Schnauzer)
- Ligneous Membranitis
- Limb-girdle Muscular Dystrophy (Discovered in the Boston Terrier)
- Limb-girdle muscular dystrophy (Discovered in the Miniature Dachshund)
- Lung Developmental Disease (Discovered in the Airedale Terrier)
- Macrothrombocytopenia
- May-Hegglin Anomaly
- MDR1 Medication Sensitivity
- Microphthalmia (Discovered in the Soft-Coated Wheaten Terrier)
- Mucopolysaccharidosis Type IIIA (Discovered in the Dachshund)
- Mucopolysaccharidosis Type IIIA (Discovered in the New Zealand Huntaway)
- Mucopolysaccharidosis Type VI (MPS VI) (Discovered in the Miniature Pinscher)
- Mucopolysaccharidosis Type VII (Discovered in the Brazilian Terrier)
- Mucopolysaccharidosis Type VII (Discovered in the German Shepherd Dog)
- Muscular Dystrophy (Discovered in the Cavalier King Charles Spaniel)
- Muscular Dystrophy (Discovered in the Golden Retriever)
-
Muscular dystrophy-dystroglycanopathy (Discovered in the Labrador Retriever)
- Muscular Dystrophy (Discovered in the Landseer)
- Muscular Dystrophy (Discovered in the Norfolk Terrier)
- Muscular Hypertrophy (Double Muscling)
- Musladin-Lueke Syndrome
- Myeloperoxidase Deficiency
- Myotonia Congenita
- Myotonia Congenita (Discovered in the Labrador Retriever)
- Myotonia Congenita (Discovered in the Miniature Schnauzer)
- Myotubular Myopathy
- Narcolepsy (Discovered in the Dachshund)
- Narcolepsy (Discovered in the Labrador Retriever)
- Nemaline Myopathy
- Neonatal Cerebellar Cortical Degeneration
- Neonatal Encephalopathy with Seizures
- Neuroaxonal Dystrophy
- Neuroaxonal Dystrophy (Discovered in the Papillon)
- Neuroaxonal Dystrophy (Discovered in the Rottweiler)
- Neuronal Ceroid Lipofuscinosis 1
- Neuronal Ceroid Lipofuscinosis 5 (NCL5), (Discovered in the Border Collie)
- Neuronal Ceroid Lipofuscinosis 5 (NCL5), (Discovered in the Golden Retriever)
- Neuronal Ceroid Lipofuscinosis 7
- Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Alpine Dachsbracke)
- Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Australian Shepherd)
- Neuronal Ceroid Lipofuscinosis 8 (Discovered in the English Setter)
- Neuronal Ceroid Lipofuscinosis 8 (Discovered in the Saluki)
- Neuronal Ceroid Lipofuscinosis 12 (Discovered in the Australian Cattle Dog)
- Obesity risk (POMC)
- Osteochondrodysplasia
- Osteochondromatosis (Discovered in the American Staffordshire Terrier)
- Osteogenesis Imperfecta (Discovered in the Beagle)
- Osteogenesis Imperfecta (Discovered in the Dachshund)
- P2RY12-associated Bleeding Disorder
- Palmoplantar hyperkeratosis (Discovered in the Rottweiler)
- Paroxysmal Dyskinesia
- Persistent Müllerian Duct Syndrome
- Phosphofructokinase Deficiency
- Pituitary Dwarfism (Discovered in the Karelian Bear Dog)
- Polycystic Kidney Disease
- Prekallikrein Deficiency
- Primary Ciliary Dyskinesia
- Primary Ciliary Dyskinesia (Discovered in the Alaskan Malamute)
- Primary Lens Luxation
- Primary Open Angle Glaucoma (Discovered in Basset Fauve de Bretagne)
- Primary Open Angle Glaucoma (Discovered in Petit Basset Griffon Vendeen)
- Primary Open Angle Glaucoma and Lens Luxation (Discovered in Chinese Shar-Pei)
- Progressive Early-Onset Cerebellar Ataxia
- Progressive Retinal Atrophy (Discovered in the Swedish Vallhund)
- Progressive Retinal Atrophy (Discovered in the Basenji)
- Progressive Retinal Atrophy (Discovered in the Golden Retriever - GR-PRA1 variant)
- Progressive Retinal Atrophy, GR-PRA2 (Discovered in the Golden Retriever)
- Progressive Retinal Atrophy (Discovered in the Lapponian Herder)
- Progressive Retinal Atrophy (Discovered in the Lhasa Apso)
- Progressive Retinal Atrophy (Discovered in the Miniature Long Haired Dachshund)
- Progressive Retinal Atrophy (Discovered in the Papillon and Phalène)
- Progressive Retinal Atrophy (Discovered in the Shetland Sheepdog - BBS2 variant)
- Progressive Retinal Atrophy (Discovered in the Shetland Sheepdog - CNGA1 variant)
- Progressive Retinal Atrophy 1 (Discovered in the Italian Greyhound)
- Progressive Retinal Atrophy Type III
- Progressive Rod Cone Degeneration (prcd-PRA)
- Protein Losing Nephropathy
- Pyruvate Dehydrogenase Phosphatase 1 Deficiency
- Pyruvate Kinase Deficiency (Discovered in the Basenji)
- Pyruvate Kinase Deficiency (Discovered in the Beagle)
- Pyruvate Kinase Deficiency (Discovered in the Pug)
- Pyruvate Kinase Deficiency (Discovered in the West Highland White Terrier)
- QT Syndrome
- Renal Cystadenocarcinoma and Nodular Dermatofibrosis
- Rod-Cone Dysplasia 1
- Rod-Cone Dysplasia 1a
- Rod-Cone Dysplasia 3
- Limb-girdle Sensorineural deafness (Discovered in the Rottweiler)
- Sensory Ataxic Neuropathy
- Sensory Neuropathy
- Severe Combined Immunodeficiency
- Severe Combined Immunodeficiency (Discovered in Frisian Water Dogs)
- Shaking Puppy Syndrome (Discovered in the Border Terrier)
- Skeletal Dysplasia 2
- Spinocerebellar Ataxia (Late-Onset Ataxia)
- Spinocerebellar Ataxia with Myokymia and/or Seizures
- Spondylocostal Dysostosis
- Spongy Degeneration with Cerebellar Ataxia
- Spongy Degeneration with Cerebellar Ataxia (Discovered in Belgian Malinois)
- Stargardt Disease (Discovered in the Labrador Retriever)
- Startle disease (Discovered in the Miniature American Shepherd)
- Succinic Semialdehyde Dehydrogenase Deficiency (Discovered in the Saluki)
- Thrombopathia (Discovered in the Basset Hound)
- Thrombopathia (Discovered in the Eskimo Spitz)
- Trapped Neutrophil Syndrome
- Van den Ende-Gupta Syndrome
- von Willebrand's Disease, type 1
- von Willebrand's Disease, type 2
- von Willebrand's Disease, type 3 (Discovered in the Kooiker Hound)
- von Willebrand's Disease, type 3 (Discovered in the Scottish Terrier)
- von Willebrand's Disease, type 3 (Discovered in the Shetland Sheepdog)
- X-Linked Ectodermal Dysplasia
- X-Linked Hereditary Nephropathy (Discovered in the Navasota Dog)
- X-Linked Hereditary Nephropathy (Discovered in the Samoyed)
- X-Linked Myotubular Myopathy
- X-Linked Progressive Retinal Atrophy 1
- X-Linked Progressive Retinal Atrophy 2
- X-Linked Severe Combined Immunodeficiency (Discovered in the Basset Hound)
- X-Linked Severe Combined Immunodeficiency (Discovered in the Cardigan Welsh Corgi)
- X-Linked Tremors
- Xanthinuria (Discovered in a mixed breed dog)
- Xanthinuria (Discovered in the Cavalier King Charles Spaniel)
- Xanthinuria (Discovered in the Toy Manchester Terrier)
