Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
hypertrichosis +     
Leber congenital amaurosis +     
retinitis pigmentosa +     
Acromegaloid Facial Appearance Syndrome 
Aldred Syndrome 
Alstrom syndrome  
Amaurosis Hypertrichosis  
Ambras type hypertrichosis universalis congenita 
Anterior Cervical Hypertrichosis 
autosomal recessive pericentral pigmentary retinopathy 
Barber-Say syndrome  
Bork Stender Schmidt Syndrome 
CAHMR Syndrome 
Cervical Hypertrichosis Neuropathy 
Cervical Hypertrichosis with Underlying Kyphoscoliosis 
Chang Davidson Carlson Syndrome 
Chromosome Xp11.3 Deletion Syndrome 
Coffin-Siris syndrome +   
Concentric Annular Macular Dystrophy  
Cone Dystrophy 4  
Cone Rod Dystrophy Amelogenesis Imperfecta  
cone-rod dystrophy 1  
cone-rod dystrophy 10  
cone-rod dystrophy 11  
cone-rod dystrophy 13  
cone-rod dystrophy 14  
cone-rod dystrophy 16  
cone-rod dystrophy 17 
cone-rod dystrophy 19  
cone-rod dystrophy 2  
cone-rod dystrophy 20  
cone-rod dystrophy 3  
cone-rod dystrophy 5  
cone-rod dystrophy 6  
cone-rod dystrophy 7  
cone-rod dystrophy 8 
Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 
Congenital Hypertrichosis Lanuginosa 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
dominant pericentral pigmentary retinopathy 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Hypertrichosis  
Flynn Aird Syndrome 
Furukawa Takagi Nakao Syndrome 
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Gorlin Chaudhry Moss Syndrome 
Hairy Ears 
Hairy Ears, Y-Linked 
Hairy Elbows 
Hairy Nose Tip 
Hardikar Syndrome  
Hypertrichosis Congenital Generalized X-Linked 
hypertrichosis of eyelid 
hypertrichotic osteochondrodysplasia Cantu type  
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
isolated microphthalmia 5  
Jalili syndrome  
Kearns-Sayre syndrome  
late-adult onset retinitis pigmentosa 
Leber congenital amaurosis 1  
Leber congenital amaurosis 10  
Leber congenital amaurosis 11  
Leber congenital amaurosis 12  
Leber congenital amaurosis 13  
Leber congenital amaurosis 14  
Leber congenital amaurosis 15  
Leber congenital amaurosis 16  
Leber congenital amaurosis 17  
Leber congenital amaurosis 19  
Leber congenital amaurosis 2  
Leber congenital amaurosis 3  
Leber congenital amaurosis 4  
Leber congenital amaurosis 5  
Leber congenital amaurosis 6  
Leber congenital amaurosis 7  
Leber congenital amaurosis 8  
Leber congenital amaurosis 9  
Leber congenital amaurosis with early-onset deafness  
Macular Dystrophy with Central Cone Involvement  
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa  
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Midphalangeal Hair 
Mirhosseini-Holmes-Walton Syndrome 
Muller Barth Menger Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome 3  
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
NARP syndrome  
Newfoundland cone-rod dystrophy  
Oculotrichodysplasia 
Oliver-McFarlane syndrome  
Peripheral Cone Dystrophy 
PHARC syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
Posterior Column Ataxia with Retinitis Pigmentosa  
Progressive Pallidal Degeneration with Retinitis Pigmentosa 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramon Syndrome 
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 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 86  
retinitis pigmentosa 87  
retinitis pigmentosa 88  
retinitis pigmentosa 89  
retinitis pigmentosa 9  
retinitis pigmentosa 90  
Retinitis Pigmentosa 92  
Retinitis Pigmentosa 93  
Retinitis Pigmentosa 95  
Retinitis Pigmentosa 96  
Retinitis Pigmentosa 97  
Retinitis Pigmentosa 98  
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  
Schaap Taylor Baraitser Syndrome 
Senior-Loken syndrome +   
Senior-Loken Syndrome 4  
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 Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis  
spondylometaphyseal dysplasia with cone-rod dystrophy  
Tapetoretinal Degeneration with Ataxia 
Usher syndrome +   
Wiedemann Grosse Dibbern Syndrome 
X-Linked Cone Dystrophy with Tapetal-like Sheen 
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  

Synonyms
Exact Synonyms: Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis ;   Cone-rod congenital amaurosis associated with congenital hypertrichosis ;   cone-rod type congenital amaurosis with congenital hypertrichosis
Primary IDs: MESH:C536604
Alternate IDs: MIM:204110

paths to the root