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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
blindness +     
West syndrome +     
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
alpha-methylacyl-CoA racemase deficiency  
Amaurosis Fugax  
autoimmune disease of the nervous system +   
autonomic nervous system disease +   
Barth syndrome +   
Benign Familial Infantile Seizures, 2  
Benign Familial Infantile Seizures, 5  
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
CD40 ligand deficiency +   
central nervous system disease +   
Charcot-Marie-Tooth disease X-linked recessive 2 
Charcot-Marie-Tooth disease X-linked recessive 3 
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
Chronobiology Disorders +   
CK syndrome  
color blindness +   
combined oxidative phosphorylation deficiency 6  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
congenital nervous system abnormality +   
congenital nongoitrous hypothyroidism 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
cortical blindness +   
Deaf-Blind Disorders +   
Dent disease +   
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
diplegia of upper limb 
Duchenne muscular dystrophy +   
ectodermal dysplasia 1 +   
factor VIII deficiency +   
Fanconi anemia complementation group B  
FG syndrome +   
frontometaphyseal dysplasia 1  
Galloway-Mowat syndrome 2  
Gerstmann syndrome 
glycogen storage disease IXa  
glycogen storage disease IXd  
Hemianopsia 
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
herpes zoster +   
hypogonadotropic hypogonadism 1 with or without anosmia  
ichthyosis follicularis-alopecia-photophobia syndrome 1  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
Infantile Multisystem Neurologic Disease with Osseous Fragility 
intestinal pseudo-obstruction +   
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Keipert syndrome  
Kennedy's disease  
Lesch-Nyhan syndrome +   
MASA syndrome  
megalocornea +   
MEHMO syndrome  
MEND syndrome  
methylmalonic acidemia and homocysteinemia cblX type  
Microcephaly Microphthalmos Blindness 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Mullegama-Klein-Martinez syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Nerve Injuries +   
Nervous System Malformations +   
Nervous System Neoplasms +   
Nervous System Trauma +   
Neurocutaneous Syndromes +   
neurodegenerative disease +   
neurogenic arthrogryposis multiplex congenita +   
Neurologic Manifestations +   
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET  
non-syndromic X-linked intellectual disability 100  
non-syndromic X-linked intellectual disability 101  
non-syndromic X-linked intellectual disability 103  
non-syndromic X-linked intellectual disability 104  
non-syndromic X-linked intellectual disability 105  
non-syndromic X-linked intellectual disability 21  
non-syndromic X-linked intellectual disability 30  
non-syndromic X-linked intellectual disability 46  
non-syndromic X-linked intellectual disability 53 
non-syndromic X-linked intellectual disability 58  
non-syndromic X-linked intellectual disability 72  
non-syndromic X-linked intellectual disability 73 
non-syndromic X-linked intellectual disability 77 
non-syndromic X-linked intellectual disability 81 
non-syndromic X-linked intellectual disability 82  
non-syndromic X-linked intellectual disability 84 
non-syndromic X-linked intellectual disability 9  
non-syndromic X-linked intellectual disability 90  
non-syndromic X-linked intellectual disability 92  
non-syndromic X-linked intellectual disability 93  
non-syndromic X-linked intellectual disability 96  
non-syndromic X-linked intellectual disability 99  
non-syndromic X-linked intellectual disability ARX-related  
Norrie disease  
A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. (DO)
nuclear type mitochondrial complex I deficiency 12  
nuclear type mitochondrial complex I deficiency 30  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Opitz GBBB syndrome type I  
orofaciodigital syndrome VIII 
osteogenesis imperfecta type 19  
Paganini-Miozzo syndrome  
partial androgen insensitivity syndrome  
Partington syndrome  
PEHO syndrome  
Pelizaeus-Merzbacher disease +   
peripheral nervous system disease +   
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
Polycystic Kidney, Cataract, and Congenital Blindness 
Polyglucosan Body Disease, Adult Form  
Prieto syndrome 
Renpenning syndrome  
Retinal Aplasia 
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
Rodrigues Blindness 
Roy Maroteaux Kremp Syndrome 
Scoliosis, Arachnodactyly, and Blindness 
sensory system disease +   
severe congenital encephalopathy due to MECP2 mutation  
Shukla-Vernon syndrome  
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
spondyloepiphyseal dysplasia tarda +   
syndactyly type 8  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked mental retardation 35  
Tang Hsi Ryu Syndrome 
toxic encephalopathy +   
Van Esch-O'Driscoll syndrome  
visual impairment and progressive phthisis bulbi  
Waisman syndrome  
Webb-Dattani Syndrome  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked Aarskog syndrome  
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia +   
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked chronic idiopathic intestinal pseudo-obstruction  
X-linked cone-rod dystrophy 3  
X-linked congenital hemolytic anemia  
X-linked deafness 5  
X-linked distal spinal muscular atrophy 3  
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-linked hyper IgM syndrome  
X-linked ichthyosis +   
X-Linked immunodeficiency 74  
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked intellectual developmental disorder 108  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked juvenile retinoschisis 1  
X-linked keratosis follicularis spinulosa decalvans  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques  
X-linked myopathy with excessive autophagy  
X-linked nephrolithiasis type I  
X-linked properdin deficiency  
X-linked recessive hypophosphatemic rickets  
X-linked severe combined immunodeficiency  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  
X-linked spinal muscular atrophy 2  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 5 
X-linked thrombocytopenia with beta-thalassemia  
X-linked VACTERL association  
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Exact Synonyms: Anderson-Warburg syndrome ;   Congenital Progressive Oculo-Acoustico-Cerebral Degeneration ;   Episkopi blindness ;   Fetal Iritis Syndrome ;   ND ;   Norrie syndrome ;   Norrie's Disease ;   Norrie-Warburg disease ;   Norrie-Warburg syndrome ;   Oligophrenia Microphthalmus ;   Pseudoglioma ;   Whitnall-Norman syndrome ;   atrophia bulborum hereditaria ;   pseudoglioma congenita
Primary IDs: MESH:C537849
Alternate IDs: OMIM:310600
Xrefs: GARD:7224 ;   NCI:C118634 ;   ORDO:649
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/1303235 "DO", https://www.ncbi.nlm.nih.gov/pubmed/13998843 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7627181 "DO"

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