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Term:
Erythrokeratodermia with Ataxia (DOID:9005475)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Ataxia +     
Abetalipoproteinemia Neuropathy 
Absence of Fingerprints  
Actinic Prurigo  
Albinism +   
Annular Erythema 
arterial tortuosity syndrome  
Arts syndrome  
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia with Fasciculations 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
ataxia with oculomotor apraxia type 3  
Ataxia, Deafness, and Cardiomyopathy 
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
ataxic cerebral palsy 
Atonic-Astatic Syndrome of Foerster 
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS  
autosomal recessive congenital ichthyosis +   
Bangstad Syndrome 
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Behr Syndrome  
Bhaskar Jagannathan Syndrome 
Bloch-Sulzberger syndrome +   
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff Syndrome  
CANOMAD Syndrome 
Carnitine Acetyltransferase Deficiency 
Cataract Ataxia Deafness 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Christianson syndrome  
COACH Syndrome  
coenzyme Q10 deficiency disease +   
Collagenosis, Familial Reactive Perforating 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
Deafness Hyperuricemia Neurologic Ataxia 
Diaminopentanuria 
Dowling-Degos disease +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
epidermolytic hyperkeratosis +   
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
familial isolated deficiency of vitamin E  
Gait Ataxia  
Gerodermia Osteodysplastica  
Hailey-Hailey disease  
Hepatic Porphyrias +   
hereditary ataxia +   
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
Hereditary Sclerosing Poikiloderma +   
Histiocytic Dermatoarthritis 
Hyaluronan Metabolism, Defect in 
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
ichthyosis vulgaris +   
Isolated Osteopoikilosis 
Joubert syndrome 7  
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Leukoencephalopathy with Ataxia  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipoid proteinosis  
Mitochondrial Myopathy, and Ataxia  
monilethrix +   
Muir-Torre syndrome  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Myokymia 1  
NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
Oculotrichodysplasia 
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures  
orofaciodigital syndrome IX  
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
Paroxysmal Tonic Upgaze, Benign Childhood, with Ataxia 
Partington syndrome  
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts 
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
PHARC syndrome  
Plasminogen Deficiency, Type I  
porokeratosis +   
Posterior Column Ataxia with Retinitis Pigmentosa  
primary cutaneous amyloidosis +   
Progressive Osseous Heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolidase Deficiency  
pseudoxanthoma elasticum +   
Reardon Wilson Cavanagh Syndrome 
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Richards-Rundle Syndrome 
Rothmund-Thomson syndrome +   
Sensory Ataxia, Autosomal Dominant  
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
Spastic Ataxia with Congenital Miosis 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spinocerebellar Ataxias +   
Spondyloepimetaphyseal Dysplasia, Genevieve Type  
Stiff Skin Syndrome  
Storm Syndrome 
Systemic Hyalinosis  
Tapetoretinal Degeneration with Ataxia 
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
Trichothiodystrophy Syndromes +   
Tryptophanuria with Dwarfism 
Vohwinkel Syndrome, Variant Form  
X-linked ichthyosis +   
xeroderma pigmentosum +   

Synonyms
Exact Synonyms: Erythrokeratodermia ataxia ;   Giroux Barbeau Syndrome
Primary IDs: MESH:C535738 ;   RDO:0001026

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.