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Term:
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (DOID:9001162)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Acrootoocular Syndrome 
Adams-Oliver syndrome +   
Akesson Syndrome 
Aldred Syndrome 
Alstrom syndrome  
Amaurosis Hypertrichosis  
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Ataxia, Deafness, and Cardiomyopathy 
Athabaskan brainstem dysgenesis syndrome  
Auditory Neuropathy, Nonsyndromic Recessive 
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant nonsyndromic deafness +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive spinocerebellar ataxia 19  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Ayme-Gripp Syndrome  
BADS syndrome 
Bart-Pumphrey syndrome  
Bartter disease type 4A  
Bartter disease type 4b  
Beare-Stevenson cutis gyrata syndrome  
Bjornstad syndrome  
Bork Stender Schmidt Syndrome 
Boudhina Yedes Khiari syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brown-Vialetto-Van Laere syndrome +   
CAPOS Syndrome  
Cataract Ataxia Deafness 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
Chang Davidson Carlson Syndrome 
Charcot-Marie-Tooth Disease and Deafness  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
Chitty Hall Baraitser Syndrome 
Chromosome Xp11.3 Deletion Syndrome  
Chudley-Mccullough syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 
Cone Dystrophy 4  
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Cone Rod Dystrophy Amelogenesis Imperfecta  
cone-rod dystrophy 1  
cone-rod dystrophy 10  
cone-rod dystrophy 11  
cone-rod dystrophy 12  
cone-rod dystrophy 13  
cone-rod dystrophy 14  
cone-rod dystrophy 16  
cone-rod dystrophy 17 
cone-rod dystrophy 18  
cone-rod dystrophy 19  
cone-rod dystrophy 2  
cone-rod dystrophy 20  
Cone-Rod Dystrophy 21  
cone-rod dystrophy 3  
cone-rod dystrophy 5  
cone-rod dystrophy 6  
cone-rod dystrophy 7  
cone-rod dystrophy 8 
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, with Total Albinism 
Congenital Ectodermal Dysplasia with Hearing Loss 
Corneal Dystrophy and Perceptive Deafness  
cortical deafness +   
Craniofacial Deafness Hand Syndrome  
Cutis Verticis Gyrata and Mental Deficiency 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Dandruff 
De Hauwere syndrome 
Deafness Enamel Hypoplasia Nail Defects  
Deafness Oligodontia Syndrome 
Deafness, Aminoglycoside-Induced  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, Mid-Tone Neural 
Deafness, Progressive High-Tone Neural 
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
deafness-intellectual disability, Martin-Probst type syndrome  
Digitorenocerebral Syndrome  
dilated cardiomyopathy 1J  
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
dominant pericentral pigmentary retinopathy 
Donnai-Barrow syndrome  
EAST syndrome  
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ermine Phenotype 
Fitzsimmons Walson Mellor Syndrome 
Flynn Aird Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Furukawa Takagi Nakao Syndrome 
Gemignani Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Gonadal Dysgenesis, XX Type, with Deafness +   
Griscelli syndrome +   
Hardikar Syndrome 
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
HID Syndrome  
High-Frequency Hearing Loss  
Histiocytosis with Joint Contractures and Sensorineural Deafness  
Hittner Hirsch Kreh Syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
hypoparathyroidism-deafness-renal disease syndrome  
Insulin-Like Growth Factor I Deficiency  
isolated microphthalmia 5  
Jalili Syndrome  
Johanson-Blizzard syndrome  
Kearns-Sayre syndrome  
late-adult onset retinitis pigmentosa 
Leber congenital amaurosis 14  
Leber congenital amaurosis 3  
Light Fixation Seizure Syndrome 
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT  
Marshall Syndrome +   
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa  
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Mirhosseini-Holmes-Walton Syndrome 
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
MYH-9 related disease +   
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Neuropathy Ataxia and Retinitis Pigmentosa  
Newfoundland cone-rod dystrophy  
Nonsyndromic Sensorineural Hearing Loss  
ocular albinism with sensorineural deafness  
Oculotrichodysplasia 
Oliver-McFarlane Syndrome  
Optic Atrophy 1 and Deafness  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
otospondylomegaepiphyseal dysplasia  
Pallidal Degeneration, Progressive, with Retinitis Pigmentosa 
Palmoplantar Keratoderma with Deafness  
Paragangliomas with Sensorineural Hearing Loss  
Pendred syndrome  
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Peripheral Cone Dystrophy 
Pfeiffer Kapferer Syndrome 
PHARC syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
Posterior Column Ataxia with Retinitis Pigmentosa  
Premature Atherosclerosis, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
Progressive Hearing Loss Stapes Fixation  
Progressive Nephropathy with Deafness 
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Retinal Cone Dystrophy 3A  
Retinal Cone Dystrophy 3B  
Retinal Cone Dystrophy 4  
retinitis pigmentosa 1  
retinitis pigmentosa 10  
retinitis pigmentosa 11  
retinitis pigmentosa 12  
retinitis pigmentosa 13  
retinitis pigmentosa 14  
retinitis pigmentosa 17  
retinitis pigmentosa 18  
retinitis pigmentosa 19  
retinitis pigmentosa 2  
retinitis pigmentosa 20  
retinitis pigmentosa 22 
retinitis pigmentosa 23  
retinitis pigmentosa 24 
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 27  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 3  
retinitis pigmentosa 30  
retinitis pigmentosa 31  
retinitis pigmentosa 32 
retinitis pigmentosa 33  
retinitis pigmentosa 34 
retinitis pigmentosa 35  
retinitis pigmentosa 36  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 39  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 42  
retinitis pigmentosa 43  
retinitis pigmentosa 44  
retinitis pigmentosa 45  
retinitis pigmentosa 46  
retinitis pigmentosa 47  
retinitis pigmentosa 48  
retinitis pigmentosa 49  
retinitis pigmentosa 50  
retinitis pigmentosa 51  
retinitis pigmentosa 54  
retinitis pigmentosa 55  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 58  
retinitis pigmentosa 59  
retinitis pigmentosa 6 
retinitis pigmentosa 60  
retinitis pigmentosa 61  
retinitis pigmentosa 62  
retinitis pigmentosa 63 
retinitis pigmentosa 66  
retinitis pigmentosa 67  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
Retinitis Pigmentosa 7 with Bull'S-Eye Maculopathy  
Retinitis Pigmentosa 7, Digenic  
retinitis pigmentosa 70  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
Retinitis Pigmentosa 76  
retinitis pigmentosa 77  
Retinitis Pigmentosa 78  
Retinitis Pigmentosa 79  
Retinitis Pigmentosa 80  
retinitis pigmentosa 81  
Retinitis Pigmentosa 83  
Retinitis Pigmentosa 84  
Retinitis Pigmentosa 85  
retinitis pigmentosa 9  
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS  
Retinitis Pigmentosa Inversa with Deafness 
retinitis pigmentosa with or without situs inversus  
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium 
retinitis pigmentosa Y-linked 
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Retinitis Pigmentosa, Late-Onset Dominant  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
RHYNS Syndrome  
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Rosenthal-Kloepfer Syndrome 
Schaap Taylor Baraitser Syndrome 
Senior-Loken Syndrome 4  
Sensorineural Deafness and Male Infertility  
Sensorineural Deafness and Migraine  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
Sensorineural Deafness with Mild Renal Dysfunction  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
Sensorineural Deafness, Autosomal-Mitochondrial Type  
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
short-rib thoracic dysplasia 9 with or without polydactyly  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Tapetoretinal Degeneration with Ataxia 
thiamine-responsive megaloblastic anemia syndrome  
tinea capitis +  
Townes-Brocks syndrome  
TOWNES-BROCKS SYNDROME 2  
Townes-Brocks-Branchiootorenal-Like Syndrome  
Treft Sanborn Carey Syndrome 
Tunglang Savage Bellman Syndrome 
Usher syndrome +   
Vohwinkel Syndrome  
Winkelman Bethge Pfeiffer Syndrome  
Wolfram syndrome 2  
Wolfram Syndrome, Mitochondrial Form 
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked cone-rod dystrophy 3  
X-linked nonsyndromic deafness +   
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  

Synonyms
Primary IDs: MESH:C565306 ;   RDO:0013981

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