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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
46,XY sex reversal 2  
Abruzzo-Erickson syndrome  
Achromatopsia Incomplete, X-Linked 
Aicardi syndrome  
Aldred Syndrome 
alpha-thalassemia myelodysplasia syndrome  
Alstrom syndrome  
Alzheimer's disease 16 
Amaurosis Hypertrichosis  
AMME complex 
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Arthrogryposis, X-Linked, Type V 
autosomal recessive pericentral pigmentary retinopathy 
Bork Stender Schmidt Syndrome 
Bornholm Eye Disease 
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
cataract 40  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Chang Davidson Carlson Syndrome 
Choroideremia +   
Chromosome Xp11.3 Deletion Syndrome 
Chromosome Xq28 Duplication Syndrome  
Cleft Palate with Ankyloglossia  
combined T cell and B cell immunodeficiency +   
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 12  
cone-rod dystrophy 13  
cone-rod dystrophy 14  
cone-rod dystrophy 15  
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 22  
Cone-Rod Dystrophy 24  
cone-rod dystrophy 3  
cone-rod dystrophy 5  
cone-rod dystrophy 6  
cone-rod dystrophy 7  
cone-rod dystrophy 8 
cone-rod dystrophy 9  
Cone-Rod Dystrophy and Hearing Loss +   
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE  
Congenital Adrenal Hypoplasia with Precocious Puberty 
Congenital Alopecia X-Linked 
congenital bilateral absence of vas deferens +   
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
congenital nystagmus 1  
Congenital Ptosis, Hereditary 2 
corpus callosum agenesis-abnormal genitalia syndrome  
Craniofacioskeletal Syndrome 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
developmental and epileptic encephalopathy 90  
Dilated Cardiomyopathy 3A 
dominant pericentral pigmentary retinopathy 
Epidermodysplasia Verruciformis, X-Linked 
Episodic Muscle Weakness, X-Linked 
External Ophthalmoplegia and Myopia 
Fabry disease +   
favism  
fetal akinesia deformation sequence syndrome X-linked 
Flynn Aird Syndrome 
Furukawa Takagi Nakao Syndrome 
Hardikar Syndrome  
High-Frequency Deafness, Sensorineural, X-Linked 
Hodgkin Disease, X-Linked Pseudoautosomal 
Hydrocephalus with Cerebellar Agenesis 
Hypertrichosis Congenital Generalized X-Linked 
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
intracranial berry aneurysm 5 
isolated microphthalmia 5  
Isolated Noncompaction of the Ventricular Myocardium +   
Jalili syndrome  
Kearns-Sayre syndrome  
late-adult onset retinitis pigmentosa 
Leber congenital amaurosis 14  
Leber congenital amaurosis 3  
Leigh Syndrome, X-Linked  
Macular Dystrophy with Central Cone Involvement  
McLeod syndrome  
Meester-Loeys syndrome  
Melnick-Needles syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa  
Microcephaly Microcornea Syndrome Seemanova Type 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1  
Microphthalmia/Coloboma 1 
Midline Defects, X-Linked 
Mirhosseini-Holmes-Walton Syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome 3  
Multiple Pterygium Syndrome, X-Linked 
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Myopia 1 
Myopia 13 
Myopia 26, X-Linked, Female-Limited  
NARP syndrome  
NEMO Mutation with Immunodeficiency 
Neural Tube Defects X-Linked 
Newfoundland cone-rod dystrophy  
Nystagmus 5, Infantile Periodic Alternating 
Oculotrichodysplasia 
Ogden syndrome  
Oliver-McFarlane syndrome  
optic atrophy 2  
ornithine carbamoyltransferase deficiency  
ovarian dysgenesis 2 +   
Parkinson's Disease 12 
Partial Agenesis of Corpus Callosum, X-Linked  
Peripheral Cone Dystrophy 
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
PHARC syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
Posterior Column Ataxia with Retinitis Pigmentosa  
primary ovarian insufficiency 1  
Progressive Muscular Dystrophy, Pectorodorsal 
Progressive Pallidal Degeneration with Retinitis Pigmentosa 
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Pulmonary Surfactant Metabolism Dysfunction 4  
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Radius Absent Anogenital Anomalies 
reducing body myopathy 1B  
Reticuloendotheliosis, X-Linked 
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 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  
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED  
Russell-Silver Syndrome, X-Linked 
Selective Tooth Agenesis, X-Linked, 1  
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  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
Spina Bifida, X-Linked 
split hand-foot malformation 2 
spondylometaphyseal dysplasia with cone-rod dystrophy  
Spondylometaphyseal Dysplasia, X-Linked 
syndromic microphthalmia 13  
Systemic Autoinflammatory Disease, X-Linked  
Tapetoretinal Degeneration with Ataxia 
TARP syndrome  
terminal osseous dysplasia  
Testicular Germ Cell Tumor 1 
Thrombocythemia, X-Linked 
Thrombocytopenia 1  
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Usher syndrome +   
Vasquez Hurst Sotos Syndrome 
VEXAS syndrome  
Von Willebrand Disease, X-Linked Form 
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia without Thrombocytopenia 
X-linked cardiac valvular dysplasia  
X-linked central diabetes insipidus  
X-linked cleft palate with or without ankyloglossia  
X-Linked Cone Dystrophy with Tapetal-like Sheen 
X-linked cone-rod dystrophy 1  
A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. (DO)
X-linked cone-rod dystrophy 2 
X-linked cone-rod dystrophy 3  
X-linked congenital myopathy with fiber-type disproportion 
X-linked dilated cardiomyopathy +   
X-linked dominant disease +   
X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features  
X-linked epilepsy with variable learning disabilities and behavior disorders  
X-linked exudative vitreoretinopathy 2  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-Linked Hypogammaglobulinemia  
X-linked hypoparathyroidism 
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Intellectual Developmental Disorders +   
X-Linked Macular Dystrophy +   
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-linked panhypopituitarism +   
X-linked recessive disease +   
X-linked reticulate pigmentary disorder  
X-linked retinitis pigmentosa and sinorespiratory infections  
X-Linked Spermatogenic Failure 4  
X-Linked Spermatogenic Failure 5  
X-Linked Spermatogenic Failure 6  
X-Linked Spermatogenic Failure 7  
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-linked thrombophilia due to factor IX defect  
X-Linked Thrombophilia due to Factor VIII Defect  
X-Linked Vesicoureteral Reflux 

Synonyms
Exact Synonyms: COD1 ;   CORDX1 ;   X-linked cone dystrophy 1 ;   X-linked cone-rod dystrophy, type 1
Broad Synonyms: X-LINKED CONE-ROD DYSTROPHY
Primary IDs: MESH:C564438 ;   MESH:C564439
Alternate IDs: OMIM:304020
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11857109 "DO" "DO"

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