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Ontology Browser

Term:
Cone Rod Dystrophy Amelogenesis Imperfecta (DOID:9002360)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Aldred Syndrome 
Alstrom syndrome  
Amaurosis Hypertrichosis  
Amelogenesis Imperfecta Hypomaturation Type +   
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1E  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
Amelogenesis Imperfecta Type 1J  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
Amelogenesis Imperfecta Type 3C  
amelogenesis imperfecta type 4  
autosomal recessive pericentral pigmentary retinopathy 
Bork Stender Schmidt Syndrome 
brachyolmia-amelogenesis imperfecta syndrome  
Chang Davidson Carlson Syndrome 
Chromosome Xp11.3 Deletion 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 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Deafness Enamel Hypoplasia Nail Defects  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
dominant pericentral pigmentary retinopathy 
Flynn Aird Syndrome 
Furukawa Takagi Nakao Syndrome 
Hardikar Syndrome 
isolated microphthalmia 5  
Jalili Syndrome  
Kearns-Sayre syndrome  
Kohlschutter Tonz Syndrome  
late-adult onset retinitis pigmentosa 
Leber congenital amaurosis 14  
Leber congenital amaurosis 3  
Light Fixation Seizure Syndrome 
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT  
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa  
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Mirhosseini-Holmes-Walton Syndrome 
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Neuropathy Ataxia and Retinitis Pigmentosa  
Newfoundland cone-rod dystrophy  
Oculotrichodysplasia 
Oliver-McFarlane Syndrome  
Pallidal Degeneration, Progressive, with Retinitis Pigmentosa 
Peripheral Cone Dystrophy 
PHARC syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
Posterior Column Ataxia with Retinitis Pigmentosa  
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  
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Senior-Loken Syndrome 4  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
short-rib thoracic dysplasia 9 with or without polydactyly  
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Tapetoretinal Degeneration with Ataxia 
Usher syndrome +   
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 +   
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked cone-rod dystrophy 3  
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  

Synonyms
Primary IDs: MESH:C535976 ;   RDO:0001369

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