Category Gene(s) Diseases & coat colors & body characteristics Malattie & colori del pelo & caratteristiche del corpo (IN ITALIANO) Abk. / Abb. V2.1 V3.0
Disease L2HGDH L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type) Aciduria L-2-idrossiglutarica (tipo Staffordshire Bull Terrier) L-2-HGA x x
Disease MLKN1 Lethal Acrodermatitis Acrodermatite letale LAD x
Disease SLC45A2 Oculocutaneous Albinism Albinismo oculocutaneo OCA x
Disease SLC45A2 Oculocutaneous Albinism (Small Breed Type) Albinismo oculocutaneo (tipo di razza piccola) OCA x
Disease ENAM Amelogenesis Imperfecta Amelogenesi imperfetta AI x x
Disease NHEJ1 Collie Eye Anomaly Anomalia dell’occhio del Collie CEA x x
Disease MYH9 May-Hegglin Anomaly Anomalia di May-Hegglin MHA x x
Disease CAPN1 Late Onset Ataxia Atassia ad esordio tardivo LOA/SCA x x
Disease SEL1L Cerebellar Ataxia (Finnish Hound Type) Atassia cerebellare (tipo Segugio finlandese) x x
Disease KCNJ10 Spinocerebellar Ataxia Atassia spinocerebellare SCA x x
Disease SAG Progressive Retinal Atrophy (Basenji Type) Atrofia progressiva della retina (tipo Basenji) Basenji-PRA x x
Disease RHO Progressive Retinal Atrophy (Bullmastiff/Mastiff Type) Atrofia progressiva della retina (tipo Bullmastiff/Mastino) PRA-D x x
Disease PDE6B Progressive Retinal Atrophy (Irish Setter Type) Atrofia progressiva della retina (tipo Setter irlandese) PRA-rcd1 x x
Disease CNGA1 Progressive Retinal Atrophy (Shetland Sheepdog Type) Atrofia progressiva della retina (tipo Shetland Sheepdog) CNGA1-PRA x
Disease PRCD Progressive Retinal Atrophy, Progressive Rod-Cone Degeneration (prcd) Atrofia progressiva della retina, degenerazione progressiva del cono-bastoncello (prcd) PRA-PRCD x x
Disease NPHP4 Progressive Retinal Atrophy, Cone-Rod Dystrophy Atrofia progressiva della retina, distrofia dei coni e dei bastoncelli PRA-crd / PRA-SWD x x
Disease SLC4A3 Progressive Retinal Atrophy, Golden Retriever 1 Atrofia progressiva della retina, Golden Retriever 1 GR-PRA1 x x
Disease TTC8 Progressive Retinal Atrophy, Golden Retriever 2 Atrofia progressiva della retina, Golden Retriever 2 GR-PRA2 x x
Disease FAM161A Progressive Retinal Atrophy, PRA3 (Tibetan Terrier and Spaniel Type) Atrofia progressiva della retina, PRA3 (Tibetan Terrier e Spaniel) PRA3 x
Disease NECAP1 Progressive Retinal Atrophy (Giant Schnauzer Type) Atrofia retinica progressiva (tipo Schnauzer gigante) PRA5 x
Disease PDE6B Progressive Retinal Atrophy (Sloughi Type) Atrofia retinica progressiva (tipo Sloughi) PRA-rcd1a x x
Disease PDE6A Progressive Retinal Atrophy, Rod-Cone Dysplasia 3 Atrofia retinica progressiva, displasia cono-bastoncello 3 PRA-rcd3 x x
Disease C2ORF71 Progressive Retinal Atrophy, Rod-Cone Dysplasia 4 Atrofia retinica progressiva, displasia cono-bastoncello 4 PRA-rcd4 x
Disease PDE6B Progressive Retinal Atrophy, Cone-Rod Dystrophy 1 Atrofia retinica progressiva, distrofia cono-bastoncello 1 PRA-crd1 x x
Disease IQCB1 Progressive Retinal Atrophy, Cone-Rod Dystrophy 2 Atrofia retinica progressiva, distrofia cono-bastoncello 2 PRA-crd2 x
Disease ADAM9 Progressive Retinal Atrophy, Cone-Rod Dystrophy 3 Atrofia retinica progressiva, distrofia cono-bastoncello 3 PRA-crd3 x x
Disease RPGRIP1 Progressive Retinal Atrophy, Cone-Rod Dystrophy 4 (crd4/cord1) Atrofia retinica progressiva, distrofia cono-bastoncello 4 (crd4/cord1) PRA-crd4/cord1 x
Disease CCDC66 Progressive Retinal Atrophy, Generalized Atrofia retinica progressiva, generalizzata GPRA x x
Disease RPGR Progressive Retinal Atrophy, X-Linked 1 Atrofia retinica progressiva, legata all’X 1 XLPRA x
Disease CNGB1 Progressive Retinal Atrophy, PRA1 (Papillon Type) Atrofia retinica progressiva, PRA1 (tipo Papillon) PAP-PRA1 x x
Morphology BMP3 Brachycephaly Brachicefalia x x
Disease PDK4 Dilated Cardiomyopathy (Doberman Pinscher Typ Risk Factor, Variant 1) Cardiomiopatia dilatativa (fattore di rischio tipo Doberman Pinscher, variante 1) DCM x x
Disease TTN Dilated Cardiomyopathy (Doberman Pinscher Typ Risk Factor, Variant 2) Cardiomiopatia dilatativa (fattore di rischio tipo Doberman Pinscher, variante 2) DCM x
Disease RBM20 Dilated Cardiomyopathy (Schnauzer Type) Cardiomiopatia dilatativa (tipo Schnauzer) DCM x
Disease C3 Complement 3 Deficiency Carenza Complemento 3 x x
Disease ITGB2 Leukocyte Adhesion Deficiency, Type I Carenza di adesione leucocitaria, tipo I CLAD-I x x
Disease FERMT3 Leukocyte Adhesion Deficiency, Type III Carenza di adesione leucocitaria, tipo III CLAD-III x x
Disease CAT Catalase Deficiency Carenza di catalasi x
Disease F11 Factor XI Deficiency Carenza di fattore XI x
Disease MSTN Myostatin Deficiency (Whippet and Longhaired Whippet Type) Carenza di miostatina (tipo Whippet e Whippet a pelo lungo) x x
Disease PKLR Pyruvate Kinase Deficiency (Basenji Type) Carenza di piruvato chinasi (tipo Basenji) PKDef x x
Disease PKLR Pyruvate Kinase Deficiency (Beagle Type) Carenza di piruvato chinasi (tipo Beagle) PKDef x x
Disease PKLR Pyruvate Kinase Deficiency (Pug Type) Carenza di piruvato chinasi (tipo Carlino) PKDef x x
Disease PKLR Pyruvate Kinase Deficiency (Labrador Retriever Type) Carenza di piruvato chinasi (tipo Labrador Retriever) PKDef x x
Disease PKLR Pyruvate Kinase Deficiency (Terrier Type) Carenza di piruvato chinasi (tipo Terrier) PKDef x x
Disease PDP1 Pyruvate Dehydrogenase Deficiency Carenza di piruvato deidrogenasi PDH x x
Disease HSF4 Hereditary Cataracts Cataratta ereditaria HC1 x x
Disease HSF4 Hereditary Cataracts (Australian Shepherd Type) Cataratta ereditaria (tipo Pastore australiano) HC2 x x
Disease RPE65 Congenital Stationary Night Blindness Cecità congenita notturna stazionaria CSNB x x
Disease ATP13A2 Neuronal Ceroid Lipofuscinosis (Tibetan Terrier Type) Ceroidolipofuscinosi neuronale (tipo Terrier tibetano) NCL-A x x
Disease PPT1 Neuronal Ceroid Lipofuscinosis 1 Ceroidolipofuscinosi neuronale 1 NCL-1 x x
Disease PPT1 Neuronal Ceroid Lipofuscinosis 1 (Cane Corso Type) Ceroidolipofuscinosi neuronale 1 (tipo Cane Corso) NCL-1 x x
Disease CTSD Neuronal Ceroid Lipofuscinosis 10 Ceroidolipofuscinosi neuronale 10 NCL-10 x x
Disease ATP13A2 Neuronal Ceroid Lipofuscinosis 12 Ceroidolipofuscinosi neuronale 12 NCL-12 x
Disease TPP1 Neuronal Ceroid Lipofuscinosis 2 Ceroidolipofuscinosi neuronale 2 NCL-2 x x
Disease ARSG Neuronal Ceroid Lipofuscinosis 4A Ceroidolipofuscinosi neuronale 4A NCLA-4A x x
Disease CLN5 Neuronal Ceroid Lipofuscinosis 5 (Australian Cattle Dog/Border Collie Type) Ceroidolipofuscinosi neuronale 5 (tipo Australian Cattle Dog/Border Collie) NCL-5 x x
Disease CLN5 Neuronal Ceroid Lipofuscinosis 5 (Golden Retriever Type) Ceroidolipofuscinosi neuronale 5 (tipo Golden Retriever) NCL-5 x
Disease CLN6 Neuronal Ceroid Lipofuscinosis 6 Ceroidolipofuscinosi neuronale 6 NCL-6 x x
Disease MFSD8 Neuronal Ceroid Lipofuscinosis 7 Ceroidolipofuscinosi neuronale 7 NCL-7 x
Disease CLN8 Neuronal Ceroid Lipofuscinosis 8 (Australian Shepherd Type) Ceroidolipofuscinosi neuronale 8 (tipo Pastore australiano) NCL-8 x x
Disease CLN8 Neuronal Ceroid Lipofuscinosis 8 (Setter Type) Ceroidolipofuscinosi neuronale 8 (tipo Setter) NCL-8 x x
Disease SLC3A1 Cystinuria (Australian Cattle Dog typ) Cistinuria (tipo Australian Cattle Dog) x x
Disease SLC3A1 Cystinuria (Labrador Retriever Typ) Cistinuria (tipo Labrador Retriever) x x
Disease SLC7A9 Cystinuria (Miniature Pinscher Typ) Cistinuria (tipo Pinscher in miniatura) x x
Disease SLC3A1 Cystinuria (Newfoundland Typ) Cistinuria (tipo Terranova) x x
Disease SLC7A9 Cystinuria Typ 3 (Bulldog Typ Risk Factor, Variant 3) Cistinuria tipo 3 (fattore di rischio tipo Bulldog, variante 3) x
Disease SLC3A1 Cystinuria Typ 3 (Bulldog Typ Risk Factor, Variants 1 and 2) Cistinuria tipo 3 (fattore di rischio tipo Bulldog, varianti 1 e 2) x
Disease FLCN Renal Cystadenocarcinoma and Nodular Dermatofibrosis Cistodenocarcinoma renale e dermatofibrosi nodulare RCND x x
Disease DNM1 Exercise-Induced Collapse Collasso indotto dall’esercizio EIC x x
Morphology FGF4 Chondrodysplasia Condrodisplasia x x
Disease ITGA10 Chondrodysplasia (Karelian Bear Dog and Norwegian Elkhound Type) Condrodisplasia (Cane Orso Careliano e Tipo Elkhound Norvegese) x x
Disease F7 Coagulation Factor VII Deficiency Deficit del fattore VII della coagulazione x x
Disease KLKB1 Prekallikrein Deficiency Deficit di precallicreina x x
Disease RAB24 Cerebellar Degeneration Degenerazione cerebellare x
Disease SNX14 Cerebellar Cortical Degeneration Degenerazione corticale cerebellare CCD x
Disease SPTBN2 Neonatal Cerebellar Cortical Degeneration Degenerazione corticale cerebellare neonatale NCCD x x
Disease CNGB3 Cone Degeneration Degenerazione del cono CD x x
Disease CNGA3 Cone Degeneration (Labrador Retriever Type) Degenerazione del cono (tipo Labrador Retriever) CD x
Disease CNGA3 Cone Degeneration (German Shepherd Dog Type) Degenerazione del cono (tipo Pastore tedesco) CD x
Disease CNGB3 Cone Degeneration (German Shorthaired Pointer Type) Degenerazione del cono (tipo Puntatore tedesco a pelo corto) CD x x
Disease SERAC1 Canine Multiple System Degeneration (Chinese Crested Type) Degenerazione multisistemica canina (Tipo Cinese Crestato) CMSD x x
Disease SERAC1 Canine Multiple System Degeneration (Kerry Blue Terrier Type) Degenerazione multisistemica canina (Tipo Kerry Blue Terrier) CMSD x x
Disease STK38L Early Retinal Degeneration Degenerazione retinica precoce ERD x x
Coat color AMELXY Sex Determination – X Determinazione del sesso – X x x
Coat color ZFXY Sex Determination – Y Determinazione del sesso – Y x x
Disease CCDC39 Primary Ciliary Dyskinesia Discinesia ciliare primaria PCD x x
Disease PIGN Adult Paroxysmal Dyskinesia Discinesia parossistica dell’adulto PxD x
Disease HES7 Spondylocostal Dysostosis Disostosi spondilocostale SCD x
Disease PKP1 Ectodermal Dysplasia (Chesapeake Bay Retriever Type) Displasia ectodermica (tipo Chesapeake Bay Retriever) ED x x
Disease EDA Ectodermal Dysplasia, X-Linked (Dachshund Type) Displasia ectodermica, legata all’X (tipo Bassotto) XED x
Disease EDA Ectodermal Dysplasia, X-Linked (Shepherd Type) Displasia ectodermica, legata all’X (tipo Pastore) XED x x
Disease INPP5E Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis Displasia renale cistica diffusa e fibrosi epatica x
Disease COL9A3 Retinal Dysplasia/Oculoskeletal Dysplasia 1 Displasia retinica/displasia oculoscheletrica 1 RD/OSD1 x
Disease COL9A2 Retinal Dysplasia/Oculoskeletal Dysplasia 2 Displasia retinica/displasia oculoscheletrica 2 RD/OSD2 x
Disease COL11A2 Skeletal Dysplasia 2 Displasia scheletrica 2 SD2 x x
Disease NKX2-8 Spinal Dysraphism Disrafismo spinale x x
Disease CHST6 Macular Corneal Dystrophy (Labrador Retriever Type) Distrofia corneale maculare (tipo Labrador Retriever) MD x
Disease DMD Muscular Dystrophy (Golden Retriever Type) Distrofia muscolare (tipo Golden Retriever) GRMD x x
Disease DMD Pembroke Welsh Corgi Duchenne Muscular Dystrophy Distrofia muscolare di Duchenne per Pembroke Welsh Corgi DMD x x
Disease TECPR2 Neuroaxonal Dystrophy (Spanish Water Dog Type) Distrofia neuroassonale (tipo Cane da acqua spagnolo) NAD x
Disease VPS11 Neuroaxonal Dystrophy (Rottweiler Type) Distrofia neuroassonale (tipo Rottweiler) NAD x
Disease ATG4D Lagotto Storage Disorder Disturbo da accumulo del Lagotto LSD x
Disease P2RY12 P2RY12 Receptor Platelet Disorder Disturbo piastrinico del recettore P2RY12 x x
Disease SPTB Elliptocytosis Ellistocitosi x x
Disease F8 Hemophilia A (German Shepherd Dog, Type 1) Emofilia A (pastore tedesco, tipo 1) HämA x x
Disease F8 Hemophilia A (German Shepherd Dog, Type 2) Emofilia A (pastore tedesco, tipo 2) HämA x x
Disease F8 Hemophilia A (Boxer Type) Emofilia A (tipo Boxer) HämA x x
Disease F9 Hemophilia B (Cairn Terrier Type) Emofilia B (tipo Cairn Terrier) HämB x x
Disease F9 Hemophilia B (Lhasa Apso Type) Emofilia B (tipo Lhasa Apso) HämB x x
Disease F9 Hemophilia B (Rhodesian Ridgeback Type) Emofilia B (tipo Rhodesian Ridgeback) HämB x x
Disease SLC19A3 Alaskan Husky Encephalopathy Encefalopatia dell’Husky Alaskano AHE x x
Disease ATF2 Neonatal Encephalopathy with Seizures Encefalopatia neonatale con convulsioni NEWS x x
Disease COL7A1 Dystrophic Epidermolysis Bullosa Epidermolisi bollosa distrofica DEB x x
Disease LGI2 Benign Familial Juvenile Epilepsy Epilessia giovanile familiare benigna BFJE x x
Disease DIRAS1 Juvenile Myoclonic Epilepsy (Rhodesian Ridgeback Type) Epilessia mioclonica giovanile (tipo Rhodesian Ridgeback) JME x x
Disease FUCA1 Fucosidosis Fucosidosi FUC x
Disease GLB1 GM1 Gangliosidosis (Portuguese Water Dog Type) Gangliosidosi GM1 (tipo Cane da acqua portoghese) GM1 x x
Disease GLB1 GM1 Gangliosidosis (Alaskan Husky Type) Gangliosidosi GM1 (tipo Husky Alaskano) GM1 x x
Disease GLB1 GM1 Gangliosidosis (Shiba Inu Type) Gangliosidosi GM1 (tipo Shiba Inu) GM1 x x
Disease HEXB GM2 Gangliosidosis (Poodle Type) Gangliosidosi GM2 (tipo Barboncino) GM2 x x
Disease HEXA GM2 Gangliosidosis (Japanese Chin Type) Gangliosidosi GM2 (tipo Chin giapponese) GM2 x x
Disease OLFML3 Glaucoma (Border Collie Type) Glaucoma (tipo Border Collie) x
Disease ADAMTS10 Primary Open Angle Glaucoma Glaucoma primario ad angolo aperto POAG x x
Disease ADAMTS17 Primary Open Angle Glaucoma (Basset Fauve de Bretagne Type) Glaucoma primario ad angolo aperto (tipo Basset Fauve de Bretagne) POAG x
Disease ADAMTS17 Primary Open Angle Glaucoma (Basset Hound Type) Glaucoma primario ad angolo aperto (tipo Basset Hound) POAG x
Disease ADAMTS10 Primary Open Angle Glaucoma (Norwegian Elkhound Type) Glaucoma primario ad angolo aperto (tipo Elkhound norvegese) POAG x
Disease ADAMTS17 Primary Open Angle Glaucoma and Primary Lens Luxation (Shar Pei Type) Glaucoma primario ad angolo aperto e lussazione primaria del cristallino (tipo Shar Pei) POAG/PLL x
Disease KRT10 Epidermolytic Hyperkeratosis Ipercheratosi epidermolitica x x
Disease FAM83G Hereditary Footpad Hyperkeratosis (Irish Terrier and Kromfohrländer Type) Ipercheratosi ereditaria del cuscinetto plantare (tipo Irish Terrier e Kromfohrländer) HFH x x
Disease AGXT Primary Hyperoxaluria Iperossaluria primaria PH1 x x
Disease SLC2A9 Hyperuricosuria Iperuricosuria HUU x x
Disease FNIP2 Hypomyelination (Weimaraner Type) Ipomielinizzazione (tipo Weimaraner) x
Disease FAM20C Dental Hypomineralization Ipomineralizzazione dentale x
Disease TPO Congenital Hypothyroidism with Goiter (Terrier Type) Ipotiroidismo congenito con gozzo (tipo Terrier) x
Disease SLC27A4 Ichthyosis (Great Dane Type) Ittiosi (tipo Alano) x
Disease NIPAL4 Ichthyosis (American Bulldog Type) Ittiosi (tipo Bulldog americano) x x
Disease PNPLA1 Ichthyosis (Golden Retriever Type) Ittiosi (tipo Golden Retriever) x x
Disease GALC Globoid Cell Leukodystrophy (Irish Setter Type) Leucodistrofia a cellule globoidi (tipo Setter irlandese) GLD x x
Disease GALC Globoid Cell Leukodystrophy (Terrier Type) Leucodistrofia a cellule globoidi (tipo Terrier) GLD x x
Coat color ASIP A Locus (Agouti) – a^w/a^t Locus A  ( (Agouti) – a^w/a^t x x
Coat color ASIP A Locus (Agouti) – a Locus A ( (Agouti) – a x x
Coat color ASIP A Locus (Agouti) – a A Locus (Agouti) – A^y Locus A (Agouti) – a A Locus (Agouti) – A^y x x
Coat color RALY As Locus (Saddle Tan) Locus As (Saddle Tan) x
Coat color TYRP1 B Locus (Brown) – b^a Locus B (marrone) – b^a x x
Coat color TYRP1 B Locus (Brown) – b^c Locus B (marrone) – b^c x x
Coat color TYRP1 B Locus (Brown) – b^d Locus B (marrone) – b^d x x
Coat color TYRP1 B Locus (Brown) – b^s Locus B (marrone) – b^s x x
Coat Texture KRT71 Cu Locus (Curly Hair) Locus Cu (capelli ricci) x x
Coat color MLPH D Locus (Dilute) – d^1 Locus D (diluito) – d^1 x x
Coat color MLPH D Locus (Dilute) – d^2 Locus D (diluito) – d^2 x x
Coat color MC1R E Locus (Yellow/Red) Locus E (giallo/rosso) x x
Coat color MC1R Eg Locus (Grizzle, Afghan Hound Type) Locus Eg (grigio, tipo Levriero Afgano) x x
Coat color MC1R Eh Locus (Sable, Cocker Spaniel Type) Locus Eh (zibellino, tipo Cocker Spaniel) x
Coat color MC1R Em Locus (Melanistic Mask) Locus Em (Maschera Melanistica) x x
Coat color PSMB7 H Locus (Harlequin, Great Dane Type) Locus H (Arlecchino, Alano) x x
Coat Texture FOXI3 Hr Locus (FOXI3 Hairless Gene Test, Mexican Hairless, Peruvian Hairless and Chinese Crested Type) Locus Hr (test genetico per glabro FOXI3, glabro messicano, glabro peruviano e crestato cinese) x
Coat color MFSD12 I Locus (Intensity) Locus I (Intensità) x
Coat color RSPO2 IC Locus (Improper Coat/Furnishings) Locus IC (Rivestimento/pelo improprio) x
Coat color CBD103 K Locus (Dominant Black) Locus K (nero dominante) x x
Coat color FGF5 L Locus (Long Hair/Fluffy) – Lh^1 Locus L (capelli lunghi/soffice) – Lh^1 x x
Coat color FGF5 L Locus (Long Hair/Fluffy) – Lh^2 Locus L (capelli lunghi/soffice) – Lh^2 x x
Coat color MITF S Locus (White Spotting, Parti, or Piebald) Locus S (macchia bianca, parti o pezzato) x
Coat color MC5R SD Locus (Shedding) Locus SD (spargimento) x x
Morphology T T Locus (Natural Bobtail) Locus T (Bobtail naturale) x x
Coat color PMEL M Locus (Merle) Luogo M (Merle) x
Disease ADAMTS17 Primary Lens Luxation Lussazione primaria della lente PLL x x
Disease CUBN Intestinal Cobalamin Malabsorption (Beagle Type) Malassorbimento intestinale di cobalamina (tipo Beagle) IGS x x
Disease CUBN Intestinal Cobalamin Malabsorption (Border Collie Type) Malassorbimento intestinale di cobalamina (tipo Border Collie) IGS x x
Disease MTBP Shar-Pei Autoinflammatory Disease Malattia autoinfiammatoria Shar-Pei SPAID x x
Disease G6PC Glycogen Storage Disease Ia Malattia da accumulo di glicogeno Ia GSD-Ia x x
Disease AGL Glycogen Storage Disease IIIa Malattia da accumulo di glicogeno IIIa GSD-IIIa x x
Disease PFKM Glycogen Storage Disease VII (Wachtelhund Type) Malattia da accumulo di glicogeno VII (tipo Wachtelhund) GSD-VII/PFL x x
Disease PFKM Glycogen Storage Disease VII, PFK Deficiency Malattia da accumulo di glicogeno VII, carenza di PFK GSD-VII/PFL x x
Disease PRKDC Severe Combined Immunodeficiency Disease (Terrier Type) Malattia da immunodeficienza combinata grave (tipo Terrier) SCID x x
Disease RAG1 Severe Combined Immunodeficiency Disease (Wetterhoun Type) Malattia da immunodeficienza combinata grave (tipo Wetterhoun) SCID x x
Disease IL2RG Severe Combined Immunodeficiency Disease, X-Linked (Basset Hound Type) Malattia da immunodeficienza combinata grave, legata all’X (tipo Basset Hound) XSCID x x
Disease IL2RG Severe Combined Immunodeficiency Disease, X-Linked (Corgi Type) Malattia da immunodeficienza combinata grave, legata all’X (tipo Corgi) XSCID x x
Disease SLC6A5 Startle Disease Malattia da sussulto x x
Disease FGF4 Intervertebral Disc Disease and Chondrodystrophy Malattia del disco intervertebrale e Condrodistrofia IVDD x
Disease GAA Pompe Disease Malattia di Pompe GSD-II x x
Disease ABCA4 Stargardt Disease Malattia di Stargardt STGD x
Disease VWF Von Willebrand Disease I Malattia di Von Willebrand I VWDI x x
Disease VWF Von Willebrand Disease II Malattia di Von Willebrand II VWDII x x
Disease VWF Von Willebrand Disease III (Kooikerhondje Type) Malattia di Von Willebrand III (tipo Kooikerhondje) VWDIII x x
Disease VWF Von Willebrand Disease III (Shetland Sheepdog Type) Malattia di Von Willebrand III (tipo Pastore delle Shetland) VWDIII x x
Disease VWF Von Willebrand Disease III (Scottish Terrier Type) Malattia di Von Willebrand III (tipo Scottish Terrier) VWDIII x x
Disease AKNA Recurrent Inflammatory Pulmonary Disease Malattia polmonare infiammatoria ricorrente IPD x
Disease VLDLR Dandy-Walker-Like Malformation Malformazione Dandy-Walker x
Disease PLG Ligneous Membranitis Membranite lignea LM x x
Disease CYB5R3 Congenital Methemoglobinemia Metaemoglobinemia congenita x
Disease SOD1 Degenerative Myelopathy (Bernese Mountain Dog Variant) Mielopatia degenerativa (variante Bovaro bernese) DM x
Disease SOD1 Degenerative Myelopathy (Common Variant) Mielopatia degenerativa (variante comune) DM x x
Disease PTPLA Centronuclear Myopathy Miopatia centronucleare CNM x
Disease BIN1 Inherited Myopathy of Great Danes Miopatia ereditaria degli Alani IMGD x x
Disease MTM1 Myotubular Myopathy 1 Miopatia miotubulare 1 x x
Disease MTM1 Myotubular Myopathy 1 (Rottweiler Type) Miopatia miotubulare 1 (tipo Rottweiler) x
Disease CLCN1 Myotonia Congenita (Australian Cattle Dog Type) Miotonia congenita (tipo Bovaro Australiano) MC x x
Disease CLCN1 Myotonia Congenita (Schnauzer Type) Miotonia congenita (tipo Schnauzer) MC x x
Disease SP110 Degenerative Myelopathy Modifier (Pembroke Welsh Corgi Typ) Modificatore della mielopatia degenerativa (tipo Pembroke Welsh Corgi) DM x x
Disease ABCB4 Gallbladder Mucoceles Mucocele della cistifellea x x
Disease IDUA Mucopolysaccharidosis I Mucopolisaccaridosi I MPS-I x x
Disease SGSH Mucopolysaccharidosis IIIA (Dachshund Type) Mucopolisaccaridosi IIIA (tipo Bassotto) MPS-IIIA x x
Disease SGSH Mucopolysaccharidosis IIIA (New Zealand Huntaway Type) Mucopolisaccaridosi IIIA (tipo New Zealand Huntaway) MPS-IIIA x x
Disease GUSB Mucopolysaccharidosis VII (Shepherd Type) Mucopolisaccaridosi VII (tipo Pastore) MPS-VII x x
Disease ABCB1 Multidrug Resistance 1 Multiresistenza ai farmaci 1 MDR1 x x
Disease HCRTR2 Narcolepsy (Dachshund Type) Narcolessia (tipo Bassotto) NARC x x
Disease HCRTR2 Narcolepsy (Doberman Pinscher Type) Narcolessia (tipo Doberman Pinscher) NARC x x
Disease HCRTR2 Narcolepsy (Labrador Retriever Type) Narcolessia (tipo Labrador Retriever) NARC x x
Disease COL4A5 Hereditary Nephritis (Samoyed Type) Nefrite ereditaria (tipo Samoiedo) XLHN x x
Disease KIRREL2 Protein Losing Nephropathy – Variant 1 Nefropatia con perdita di proteine ​​- Variante 1 PLN-1 x
Disease NPHS1 Protein Losing Nephropathy – Variant 2 Nefropatia con perdita di proteine ​​- Variante 2 PLN-2 x
Disease COL4A4 Familial Nephropathy (Cocker Spaniel Type) Nefropatia familiare (tipo Cocker Spaniel) FN x x
Disease COL4A4 Familial Nephropathy (English Springer Spaniel Type) Nefropatia familiare (tipo Springer Spaniel inglese) FN x x
Disease FAM134B Sensory Neuropathy (Border Collie Type) Neuropatia sensoriale (tipo Border Collie) SN x
Disease AP3B1 Cyclic Neutropenia Neutropenia ciclica CN x x
Disease SLC13A1 Osteochondrodysplasia Osteocondrodisplasia OCD x
Disease SERPINH1 Osteogenesis Imperfecta (Dachshund Type) Osteogenesi imperfetta (tipo Bassotto) OI x x
Disease COL1A2 Osteogenesis Imperfecta (Beagle Type) Osteogenesi imperfetta (tipo Beagle) OI x x
Disease COL1A1 Osteogenesis Imperfecta (Golden Retriever Type) Osteogenesi imperfetta (tipo Golden Retriever) OI x x
Disease SLC37A2 Craniomandibular Osteopathy Osteopatia craniomandibolare CMO x
Disease ADAMTS20 Cleft Palate and Syndactyly (Nova Scotia Duck Tolling Retriever Type) Palatoschisi e sindattilia (tipo Nova Scotia Duck Tolling Retriever) x
Disease SUV39H2 Hereditary Nasal Parakeratosis Paracheratosi nasale ereditaria HNPK x x
Disease SUV39H2 Hereditary Nasal Parakeratosis (Greyhound Type) Paracheratosi nasale ereditaria (tipo Greyhound) HNPK x
Disease RAB3GAP1 Juvenile Laryngeal Paralysis and Polyneuropathy Paralisi laringea giovanile e polineuropatia x x
Morphology LMBR1 Polydactyly Polidattilia x x
Disease GJA9 Polyneuropathy (Leonberger Type 2) Polineuropatia (Leonberger Tipo 2) LPN2 x x
Disease ARHGEF10 Polyneuropathy (Leonberger and Saint Bernard Type) Polineuropatia (tipo Leonberger e San Bernardo) LPN1 x x
Disease RAB3GAP1 Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation Polineuropatia con anomalie oculari e vacuolizzazione neuronale POAVN x
Disease NDRG1 Greyhound Polyneuropathy Polineuropatia da Levriero x x
Disease NDRG1 Alaskan Malamute Polyneuropathy Polineuropatia del Malamute Alaskano AMPN x x
Disease BEST1 Multifocal Retinopathy 1 Retinopatia multifocale 1 CMR1 x x
Disease BEST1 Multifocal Retinopathy 2 Retinopatia multifocale 2 CMR2 x x
Disease BEST1 Multifocal Retinopathy 3 Retinopatia multifocale 3 CMR3 x x
Disease ANO6 Canine Scott Syndrome Sindrome canina di Scott CSS x
Disease BCAN Episodic Falling Syndrome Sindrome da caduta episodica EFS x x
Disease GDNF Acral Mutilation Syndrome Sindrome da mutilazione acrale AMS x
Disease VPS13B Trapped Neutrophil Syndrome Sindrome da neutrofili intrappolati TNS x x
Disease ANLN Acute Respiratory Distress Syndrome Sindrome da pena respiratoria acuta ARDS x
Disease AMHR2 Persistent Müllerian Duct Syndrome Sindrome del dotto mulleriano persistente PMS x x
Disease FAM83H Dry Eye Curly Coat Syndrome Sindrome del pelo riccio dell’occhio secco CKSID x x
Disease TNXB Ehlers-Danlos Syndrome (Variant 1) Sindrome di Ehlers-Danlos (variante 1) EDS x
Disease TNXB Ehlers-Danlos Syndrome (Variant 2) Sindrome di Ehlers-Danlos (variante 2) EDS x
Disease LEPREL1 Lundehund Syndrome Sindrome di Lundehund x
Disease ADAMTSL2 Musladin-Lueke Syndrome Sindrome di Musladin-Lueke MLS x x
Disease SCARF2 Van Den Ende-Gupta Syndrome Sindrome di Van Den Ende-Gupta VDEGS x
Disease CHAT Congenital Myasthenic Syndrome (Old Danish Pointer Type) Sindrome miastenica congenita (tipo di puntatore danese antico) CMS x x
Disease CHRNE Congenital Myasthenic Syndrome (Jack Russell Terrier Type) Sindrome miastenica congenita (tipo Jack Russell Terrier) CMS x
Disease COLQ Congenital Myasthenic Syndrome (Labrador Retriever Type) Sindrome miastenica congenita (tipo Labrador Retriever) CMS x x
Disease ITGA2B Glanzmann’s Thrombasthenia (Great Pyrenees Type) Trombastenia di Glanzmann (tipo dei Grandi Pirenei) GT x x
Disease ITGA2B Glanzmann’s Thrombasthenia (Otterhound Type) Trombastenia di Glanzmann (tipo Otterhound) GT x x
Disease RASGRP1 Thrombopathia (Basset Hound Type) Trombopatia (tipo Basset Hound) x x
Disease RASGRP1 Thrombopathia (American Eskimo Dog Type) Trombopatia (tipo Eschimese americano) x x
Disease RASGRP1 Thrombopathia (Newfoundland Type) Trombopatia (tipo Terranova) x x
Disease APRT Urolithiasis (Native American Indian Dog Type) Urolitiasi (tipo Cane indiano nativo americano) x