Disease Guide

Notes

The proper name for a trait or disease is in bold and linked

Lower case names and abbreviations such as 'AMS' are 'AKAs' i.e. also-known-as names, for your reference.

A


A Locus (Agouti): Pain Insensitivity, Sensory Neuropathy, AMS, SN
A^sLocus (Saddle Tan): Pain Insensitivity, Sensory Neuropathy, AMS, SN
Acral Mutilation Syndrome: Pain Insensitivity, Sensory Neuropathy, AMS, SN
Acute Respiratory Distress Syndrome: Familial Acute Respiratory Distress Syndrome, ARDS
Adult Paroxysmal Dyskinesia: Paroxysmal Dyskinesia, cPxD, PxD
Alaskan Husky Encephalopathy: Subacute necrotizing encephalomyelopathy, AHE
Alaskan Malamute Polyneuropathy: Hereditary polyneuropathy of Alaskan Malamutes, Inherited polyneuropathy, AMPN
Amelogenesis Imperfecta: Autosomal recessive amelogenesis imperfecta, Familial enamel hypoplasia, AI, ARAI
Anhidrotic Ectodermal Dysplasia: Congenital hypotrichosis, Ectodermal dysplasia, X-linked ectodermal dysplasia, X-linked hypohidrotic ectodermal dysplasia, XHED, XLED

B


B Locus (Brown)
Benign Familial Juvenile Epilepsy: BFJE
Brachycephaly

C

Canine Multiple System Degeneration (Chinese Crested Type): CMSD
Canine Multiple System Degeneration (Kerry Blue Terrier Type): Progressive neuronal abiotrophy, CMSD, PNA
Canine Scott Syndrome: Scott Syndrome, Platelet Procoagulant Deficiency , CSS
Catalase Deficiency: Acatalasemia, Hypocatalasemia, Hypocatalasia, Takahara's Disease
Centronuclear Myopathy: Hereditary myopathy of the Labrador Retriever, Type II muscle fiber deficiency, CNM
Cerebellar Ataxia (Finnish Hound Type): Progressive early onset ataxia
Cerebellar Ataxia 2 (Belgian Shepherd Type): Spongy degeneration with cerebellar ataxia 2, SBCA2
Cerebellar Cortical Degeneration: Cerebellar Abiotrophy, CA, CCD
Cerebellar Degeneration: Canine Hereditary Ataxia, Cerebellar Abiotrophy, CA, HA
Chondrodysplasia (CDPA)
Chondrodysplasia (Karelian Bear Dog and Norwegian Elkhound Type): Dwarfism
Chondrodystrophy (CDDY and IVDD Risk) with or without Chondrodysplasia (CDPA): CDDY with IVDD, CDPA, Hansen's Type I IVDD, Intervertebral Disc Disease
Cleft Palate and Syndactyly (Nova Scotia Duck Tolling Retriever Type): Cleft Lip/Palate and Syndactyly, CLPS
Coagulation Factor VII Deficiency: Factor VII deficiency, Hypoproconvertinemia
Collie Eye Anomaly: Choroidal hypoplasia, CEA, CH
Complement 3 Deficiency: C3 deficiency, Complement component 3 deficiency
Cone Degeneration: Achromatopsia, Cone degeneration 1, Day blindness, Hemeralopia, Rod monochromacy, CD, CD1
Cone Degeneration (German Shepherd Dog Type): Achromatopsia, Day blindness, Hemeralopia, Rod monochromacy, CD
Cone Degeneration (German Shorthaired Pointer Type): Achromatopsia, Cone degeneration 2, Day blindness, Hemeralopia, Rod monochromacy, CD2
Cone Degeneration (Labrador Retriever Type): Achromatopsia, Day blindness, Hemeralopia, Rod monochromacy
Congenital Hypothyroidism with Goiter (Terrier Type): CHG
Congenital Methemoglobinemia: Familial Congenital Methemoglobinemia
Congenital Myasthenic Syndrome (Jack Russell Terrier Type): CMS
Congenital Myasthenic Syndrome (Labrador Retriever Type): CMS
Congenital Myasthenic Syndrome (Old Danish Pointer Type): CMS
Congenital Stationary Night Blindness: Hereditary retinal dystrophy, Leber congenital amaurosis, Retinal pigment epithelial dystrophy, CSNB, LCA
Copper Storage Disease: Copper hepatoxicosis, Copper storage hepatitis, Copper toxicosis, Copper-associated hepatopathy, Hepatic copper toxicosis, Wilson disease, BTCT, CT
Copper Toxicosis (Labrador Retriever Type): Copper Hepatoxicosis, Copper Storage Disease, Copper Storage Disease Modifier, Copper Storage Hepatitis, Copper-associated Hepatopathy, Hepatic Copper Toxicosis, Menkes Gene Disease Modifier, Wilson Disease
Craniomandibular Osteopathy: CMO
Cu Locus (Curly Hair)
Cyclic Neutropenia: Cyclic hematopoiesis, Gray collie syndrome, CH, CN
Cystinuria (Australian Cattle Dog Type): Autosomal dominant cystinuria, Type IIA cystinuria
Cystinuria (Labrador Retriever Type): Type IA cystinuria
Cystinuria (Miniature Pinscher Type)
Cystinuria (Newfoundland Type): Type IA cystinuria
Cystinuria Type 3 (Bulldog Type Risk Factor, Variant 3): Non-Type I Cystinuria
Cystinuria Type 3 (Bulldog Type Risk Factor, Variants 1 and 2): Non-Type I Cystinuria
Cystinuria Type 3 (Bulldog Type Risk Factor, Variants 2 and 3): Non-Type I Cystinuria

D


D Locus (Dilute)
Dandy-Walker-Like Malformation: Cerebellar Ataxia, Cerebellar Hypoplasia, Dandy-Walker-like Malformation, VLDLR-Associated Cerebellar Hypoplasia, DWLM
Deafness and Vestibular Dysfunction (Doberman Pinscher Type): Congenital hearing and vestibular disorder, DINGS, DVD
Degenerative Myelopathy: Canine degenerative myelopathy, DM
Degenerative Myelopathy (Bernese Mountain Dog Type): Canine Degenerative Myelopathy, DM, SOD1B
Degenerative Myelopathy Early-Onset Risk Modifier (Pembroke Welsh Corgi Type)
Dental Hypomineralization
Dermatomyositis: Juvenile Dermatomyositis, DMS, JDM
Diffuse Cystic Renal Dysplasia and Hepatic Fibrosis
Dilated Cardiomyopathy: DCM
Dilated Cardiomyopathy (Doberman Pinscher Type Risk Factor, Variant 1): DCM
Dilated Cardiomyopathy (Doberman Pinscher Type Risk Factor, Variant 2): DCM
Dilated Cardiomyopathy (Schnauzer Type): DCM
Dry Eye Curly Coat Syndrome: Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, CKSID
Dystrophic Epidermolysis Bullosa: Recessive dystrophic epidermolysis bullosa, DEB, EB, RDEB

E

E Locus (Yellow/Red)
E^g Locus (Grizzle, Afghan Hound Type) E^m Locus (Melanistic Mask) E^h Locus (Sable, Cocker Spaniel Type)
Early Retinal Degeneration: Progressive retinal atrophy-erd, Retinal photoreceptor dysplasia, ERD
Ectodermal Dysplasia (Chesapeake Bay Retriever Type)
Ectodermal Dysplasia, X-Linked (Dachshund Type)
Ectodermal Dysplasia, X-Linked (Shepherd Type)
Ehlers-Danlos Syndrome (Variants 1 and 2): EDS
Elliptocytosis
Epidermolytic Hyperkeratosis: Ichthyosis
Episodic Falling Syndrome: Collapsing Cavaliers syndrome, Exercise-induced paroxysmal hypertonicity, Falling Cavaliers syndrome, Sudden collapse syndrome, EFS
Exercise-Induced Collapse: EIC

F

Factor XI Deficiency: Coagulation Factor XI Deficiency
Familial Nephropathy (Cocker Spaniel Type): Hereditary nephropathy, Nephropathy, FN, HN
Familial Nephropathy (English Springer Spaniel Type): Hereditary nephropathy, Nephropathy, FN, HN
Fanconi Syndrome: Fanconi's syndrome, Paradoxic glucosuria
Fucosidosis: Alpha Fucosidosis

G

GM1 Gangliosidosis (Alaskan Husky Type)
GM1 Gangliosidosis (Portuguese Water Dog Type)
GM1 Gangliosidosis (Shiba Inu Type)
GM2 Gangliosidosis (Japanese Chin Type): Sandhoff disease, Tay-Sachs disease, Type 0 gangliosidosis
GM2 Gangliosidosis (Poodle Type): Sandhoff disease, Type 0 gangliosidosis
Gallbladder Mucoceles: Hepatobiliary disease, Mucinous cholecystitis, Mucinous hyperplasia
Glanzmann's Thrombasthenia (Great Pyrenees Type): Thrombasthenia, Thrombasthenic thrombopathia, GT
Glanzmann's Thrombasthenia (Otterhound Type): Thrombasthenia, Thrombasthenic thrombopathia, GT
Glaucoma (Border Collie Type): Goniodysgenesis, Primary Closed Angle Glaucoma, PCAG
Globoid Cell Leukodystrophy (Irish Setter Type): Galactocerebrosidase deficiency, Krabbe disease, GLD
Globoid Cell Leukodystrophy (Terrier Type): Galactocerebrosidase deficiency, Krabbe disease, GLD
Glycogen Storage Disease Ia: Von Gierke disease, GSD Ia, GSD1a
Glycogen Storage Disease IIIa: GSD IIIa
Glycogen Storage Disease VII (Wachtelhund Type): Phosphofructokinase deficiency, GSD VII, PFK deficiency
Glycogen Storage Disease VII, PFK Deficiency: Phosphofructokinase deficiency, GSD VII, PFK deficiency
Greyhound Polyneuropathy: Hereditary neuropathy

H


H Locus (Harlequin, Great Dane Type)
Hemophilia A (Boxer Type): Factor VIII Deficiency
Hemophilia A (German Shepherd Dog, Type 1): Factor VIII Deficiency
Hemophilia A (German Shepherd Dog, Type 2): Factor VIII deficiency
Hemophilia B (Cairn Terrier Type): Christmas disease, Factor IX deficiency
Hemophilia B (Lhasa Apso Type): Christmas disease, Factor IX deficiency
Hemophilia B (Rhodesian Ridgeback Type): Christmas disease, Factor IX deficiency
Hereditary Cataracts: Early onset cataracts, Juvenile cataracts, HC, JC
Hereditary Cataracts (Australian Shepherd Type): Early onset cataracts, Juvenile cataracts, HC, HSF4, JC
Hereditary Footpad Hyperkeratosis (Irish Terrier and Kromfohrländer type): "corny feet", Digital hyperkeratosis, DH, HFH
Hereditary Nasal Parakeratosis: HNPK
Hereditary Nasal Parakeratosis (Greyhound Type): HNPK
Hereditary Nephritis (Samoyed Type): Alport syndrome, Samoyed hereditary glomerulopathy, X-linked nephritis, AS, HN, XLHN
Hr Locus (FOXI3 Hairless Gene Test, Mexican Hairless, Peruvian Hairless and Chinese Crested Type)
Hyperuricosuria: Urolithiasis, HUU
Hypomyelination (Weimaraner Type): Hypomyelination Syndrome, Shaky puppy syndrome, Spinal cord hypomyelination, Tremors, HS, HYM

I


I Locus (Intensity)
IC Locus (Improper Coat/ Furnishings)
Ichthyosis (American Bulldog Type): Autosomal recessive congenital ichthyosis, Nonepidermolytic ichthyosis, ARCI
Ichthyosis (Golden Retriever Type)
Ichthyosis (Great Dane Type)
Inherited Myopathy of Great Danes: Central core myopathy, IMGD
Intervertebral Disc Disease Risk Factor and Chondrodystrophy: CDDY with IVDD
Intestinal Cobalamin Malabsorption (Australian Shepherd Type): Amnionless Deficiency, Cobalamin Deficiency, Imerslund-Grasbeck Syndrome, Vitamin B12 Deficiency
Intestinal Cobalamin Malabsorption (Beagle Type): Cobalamin Deficiency, Cubilin deficiency, Imerslund-Grasbeck syndrome, Vitamin B12 Deficiency, I-GS
Intestinal Cobalamin Malabsorption (Border Collie Type): Cobalamin deficiency, Cubilin deficiency, Imerslund-Grasbeck syndrome, I-GS
Intestinal Cobalamin Malabsorption (Giant Schnauzer Type): Amnionless Deficiency, Cobalamin Deficiency, Imerslund-Grasbeck Syndrome, Vitamin B12 Deficiency, I-GS

J

Juvenile Laryngeal Paralysis and Polyneuropathy: Neuronal Vacuolation, Polyneuropathy with Ocular Abnormalities, JLPP, POANV
Juvenile Myoclonic Epilepsy (Rhodesian Ridgeback Type): Myoclonic Epilepsy, JME

K

K Locus (Dominant Black)

L


L Locus (Long Hair/Fluffy)
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type): L-2-hydroxyglutaricacidemia, Organic aciduria, L-2-HGA
L-2-Hydroxyglutaric Aciduria (Yorkshire Terrier Type): L-2-hydroxyglutaricacidemia, Organic aciduria, L-2-HGA
Lagotto Storage Disorder: Neurodegenerative Vacuolar Storage Disease, LSD
Late Onset Ataxia: Spinocerebellar ataxia, LOA, SCA
Lethal Acrodermatitis
Leukocyte Adhesion Deficiency, Type I: Canine Leukocyte Adhesion Deficiency, CLAD, LAD-I
Leukocyte Adhesion Deficiency, Type III: Canine leukocyte adhesion deficiency, Leukocyte/Platelet adhesion defect, CLAD, LAD-III
Leukoencephalomyelopathy: Canine Leukoencephalomyelopathy, LEMP
Ligneous Membranitis: LM
Lundehund Syndrome: LS

M

M Locus (Merle)
Macular Corneal Dystrophy (Labrador Retriever Type): MCD
May-Hegglin Anomaly: MHA
Microphthalmia: Canine Congenital Eye Disease, Multiple ocular defects with microphthalmia, MAC
Mucopolysaccharidosis I: Alpha-L-iduronidase deficiency, Hurler syndrome, Scheie syndrome, MPS I
Mucopolysaccharidosis IIIA (Dachshund Type): Sanfilippo syndrome type A, MPS IIIA
Mucopolysaccharidosis IIIA (New Zealand Huntaway Type): Sanfilippo syndrome type A, MPS IIIA
Mucopolysaccharidosis VII (Brazilian Terrier Type): Beta-glucuronidase deficiency, Sly Syndrome, MPS VII
Mucopolysaccharidosis VII (Shepherd Type): Beta-glucuronidase deficiency, Sly Syndrome, MPS VII
Multidrug Resistance 1: Ivermectin sensitivity, MDR1 gene defect, Multidrug sensitivity, MDR1
Multifocal Retinopathy 1: Canine multifocal retinopathy 1, CMR1
Multifocal Retinopathy 2: Canine multifocal retinopathy 2, CMR2
Multifocal Retinopathy 3: Canine multifocal retinopathy 3, CMR3
Muscular Dystrophy (Golden Retriever Type): Duchenne-type muscular dystrophy, Dystrophin muscular dystrophy, DMD, GRMD
Musladin-Lueke Syndrome: Chinese Beagle Syndrome, MLS
Myostatin Deficiency (Whippet and Longhaired Whippet Type): Bully Whippet
Myotonia Congenita (Australian Cattle Dog Type): Congenital myotonia, Inherited myotonia, Myotonia, Myotonia hereditaria
Myotonia Congenita (Schnauzer Type): Congenital myotonia, Inherited myotonia, Myotonia, Myotonia hereditaria
Myotubular Myopathy 1: X-linked myotubular myopathy, MTM1, XLMTM
Myotubular Myopathy 1 (Rottweiler Type): X-linked Myotubular Myopathy, MTM1, XLMTM

R


Recurrent Inflammatory Pulmonary Disease: IPD
Renal Cystadenocarcinoma and Nodular Dermatofibrosis: Renal cancer syndrome
Retinal Dysplasia/Oculoskeletal Dysplasia 1: Dwarfism with retinal dysplasia 1, Inherited retinal dysplasia, Oculoskeletal dysplasia 1, Retinal dysplasia, DRD1, OSD1, RD, RD/OSD
Retinal Dysplasia/Oculoskeletal Dysplasia 2: Dwarfism with retinal dysplasia 2, Inherited retinal dysplasia, Oculoskeletal dysplasia 2, Retinal dysplasia, DRD2, OSD2, RD, RD/OSD2

S

S Locus (White Spotting, Parti, or Piebald)
SD Locus (Shedding)
Sensory Neuropathy (Border Collie Type): SN
Severe Combined Immunodeficiency Disease (Terrier Type): Combined immunodeficiency disease, SCID
Severe Combined Immunodeficiency Disease (Wetterhoun Type): Combined immunodeficiency disease, SCID
Severe Combined Immunodeficiency Disease, X-Linked (Basset Hound Type): XSCID
Severe Combined Immunodeficiency Disease, X-Linked (Corgi Type): XSCID
Sex Determination
Shar-Pei Autoinflammatory Disease: Familial Renal Amyloidosis, Hock Fever, Periodic Fever, Shar-Pei Fever, Swollen Hock Syndrome, SPAID
Skeletal Dysplasia 2: Dwarfism, SD2
Spinal Dysraphism: SD
Spinocerebellar Ataxia: Spinocerebellar ataxia and myokymia, SCA
Spondylocostal Dysostosis: Comma defect, SCD
Stargardt Disease: Juvenile Macular Degeneration, STGD
Startle Disease: Hyperekplexia

T

T Locus (Natural Bobtail)
Thrombopathia (American Eskimo Dog Type): Autoimmune thrombocytopenia, Hereditary thrombopathy, Immune mediated thrombocytopenia, Platelet disorder, Platelet function defect, Spitz thrombopathia, Thrombocytopathy, Thrombocytopenia
Thrombopathia (Basset Hound Type): Autoimmune thrombocytopenia, Basset Hound thrombopathia, Hereditary thrombopathy, Immune mediated thrombocytopenia, Platelet disorder, Platelet function defect, Thrombocytopathy, Thrombocytopenia
Thrombopathia (Newfoundland Type): Autoimmune thrombocytopenia, Hereditary thrombopathy, Immune mediated thrombocytopenia, Platelet disorder, Platelet function defect, Thrombocytopathy, Thrombocytopenia
Trapped Neutrophil Syndrome: Cohen syndrome, TNS

U

Urolithiasis (Native American Indian Dog Type): Skeletal Dysplasia Syndrome, VDEGS

V

Van Den Ende-Gupta Syndrome: Skeletal Dysplasia Syndrome, VDEGS
Von Willebrand Disease I: Pseudohemophilia, Vascular hemophilia, von Willebrand disease type 1, von Willebrand's disease, VWDI
Von Willebrand Disease II: pseudohemophilia, vascular hemophilia, von Willebrand disease type 2, Von Willebrand's disease
Von Willebrand Disease III (Kooikerhondje Type): Pseudohemophilia, Vascular hemophilia, von Willebrand's disease, VWDIII
Von Willebrand Disease III (Scottish Terrier Type): Pseudohemophilia, Vascular hemophilia, von Willebrand disease type 3, von Willebrand's disease, VWDIII
Von Willebrand Disease III (Shetland Sheepdog Type): Pseudohemophilia, Vascular hemophilia, von Willebrand's disease, VWDIII

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