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Ontology Browser

Term:
X-Linked Macular Dystrophy (DOID:9001007)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
46,XY sex reversal 2  
Abruzzo-Erickson syndrome  
achromatopsia 4  
Achromatopsia 5  
Achromatopsia Incomplete, X-Linked 
Acrootoocular Syndrome 
Aicardi syndrome 
Alacrima +   
Albinism +   
alpha-thalassemia myelodysplasia syndrome  
Alzheimer's disease 16 
AMME complex  
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
aniridia +   
Arthrogryposis, X-Linked, Type V 
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
basal laminar drusen  
bestrophinopathy  
Bornholm Eye Disease 
Bothnia retinal dystrophy  
bradyopsia  
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
cataract 40  
Cataract, Floriform 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
Choroideremia +   
Chromosome Xq28 Duplication Syndrome  
Cleft Palate with Ankyloglossia  
combined T cell and B cell immunodeficiency +   
Concentric Annular Macular Dystrophy  
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
cone-rod dystrophy +   
Congenital Adrenal Hypoplasia with Precocious Puberty 
Congenital Alacrima +   
Congenital Alopecia X-Linked 
congenital bilateral absence of vas deferens +   
Congenital Fibrosis of Extraocular Muscles, 2  
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement  
Congenital Fibrosis of Extraocular Muscles, 3B  
Congenital Fibrosis of Extraocular Muscles, 3C 
Congenital Fibrosis of Extraocular Muscles, 5  
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
congenital hypotrichosis with juvenile macular dystrophy  
Congenital Mydriasis +   
congenital nystagmus 1  
Congenital Ptosis, Hereditary 2 
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
corpus callosum agenesis-abnormal genitalia syndrome  
Craniofacioskeletal Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
degeneration of macula and posterior pole +   
Dilated Cardiomyopathy 3A  
Duane retraction syndrome +   
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
enhanced S-cone syndrome  
Epidermodysplasia Verruciformis, X-Linked 
Episodic Muscle Weakness, X-Linked 
External Ophthalmoplegia and Myopia 
exudative vitreoretinopathy +   
Fabry disease +   
familial benign fleck retina  
favism  
Fetal Akinesia Syndrome, X-Linked 
Foveal Hypoplasia +   
Foveal Hypoplasia with Anterior Segment Anomalies 
Geographic Atrophy  
Glaucoma 1, Open Angle, P  
glycogen storage disease VIII 
Graves Ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
high hyperopia  
High-Frequency Deafness, Sensorineural, X-Linked 
Histiocytic Dermatoarthritis 
Hodgkin Disease, X-Linked Pseudoautosomal 
Hydrocephalus with Cerebellar Agenesis 
Hypertrichosis Congenital Generalized X-Linked 
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
intracranial berry aneurysm 5 
Iris Pigment Epithelium Anomalies 
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Joubert syndrome 8  
Kuhnt-Junius degeneration +   
Leber congenital amaurosis +   
Leigh Syndrome, X-Linked  
Macular Degeneration, Early-Onset  
Macular Dystrophy with Central Cone Involvement  
Macular Dystrophy, Retinal, 3 
macular retinal edema +   
McLeod syndrome  
Meester-Loeys syndrome  
megalocornea +   
Melnick-Needles syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Microcephaly and Chorioretinopathy +   
Microcephaly Microcornea Syndrome Seemanova Type 
Midline Defects, X-Linked 
Multiple Pterygium Syndrome, X-Linked 
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myopia 1 
Myopia 13 
Myopia 26, X-Linked, Female-Limited  
NEMO Mutation with Immunodeficiency 
Neural Tube Defects X-Linked 
Nystagmus 5, Infantile Periodic Alternating 
occult macular dystrophy  
Ogden syndrome  
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
optic atrophy 2 
ornithine carbamoyltransferase deficiency  
ovarian dysgenesis 2 +   
Parkinson's Disease 12 
Partial Agenesis of Corpus Callosum, X-Linked  
patterned macular dystrophy +   
Peripapillary Atrophy, Beta Type 
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
pigmented paravenous chorioretinal atrophy  
PORETTI-BOLTSHAUSER SYNDROME  
primary congenital glaucoma +   
primary ovarian insufficiency 1  
primary ovarian insufficiency 4 
Progressive Muscular Dystrophy, Pectorodorsal 
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
pseudopapilledema 
Radial Drusen, Autosomal Dominant 
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
reducing body myopathy 1B  
renal hypomagnesemia 5 with ocular involvement  
Reticuloendotheliosis, X-Linked 
Retinal Aplasia 
Retinal Dysplasia +   
Retinal Dystrophy, Early Onset Severe  
retinitis pigmentosa +   
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6  
Retinohepatoendocrinologic Syndrome 
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Russell-Silver Syndrome, X-Linked 
Selective Tooth Agenesis, X-Linked, 1  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Sorsby's fundus dystrophy  
Spina Bifida, X-Linked 
split hand-foot malformation 2 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Surfactant Metabolism Dysfunction, Pulmonary, 4  
syndromic microphthalmia 13  
TARP syndrome  
terminal osseous dysplasia  
Testicular Germ Cell Tumor 1 
Thrombocythemia, X-Linked 
Thrombocytopenia 1  
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Vascular Hyalinosis 
Vasquez Hurst Sotos Syndrome 
VEXAS syndrome  
vitelliform macular dystrophy +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Von Willebrand Disease, X-Linked Form 
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
Wells Jankovic Syndrome 
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia without Thrombocytopenia 
X-linked cardiac valvular dysplasia  
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked congenital myopathy with fiber-type disproportion 
X-linked dilated cardiomyopathy  
X-linked dominant disease +   
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 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 Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
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 Vesicoureteral Reflux 

Synonyms
Primary IDs: MESH:C564110

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