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Ontology Browser

Term:
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED (DOID:9005923)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
coloboma +     
46,XY sex reversal 2  
Abruzzo-Erickson syndrome  
Achromatopsia Incomplete, X-Linked 
Aicardi syndrome 
Alpha-Thalassemia Myelodysplasia Syndrome  
Alsing Syndrome 
Alzheimer's disease 16 
AMME complex  
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 
Arima Syndrome 
Arthrogryposis, X-Linked, Type V 
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Biemond Syndrome II 
Bornholm Eye Disease 
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Calloso-Genital Dysplasia 
cataract 40  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Choroideremia +   
Chromosome Xq28 Duplication Syndrome 
Cleft Palate with Ankyloglossia  
COACH syndrome  
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula Type B Brachydactyly 
coloboma of optic nerve  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
combined T cell and B cell immunodeficiency +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
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-intellectual disability-coloboma-micrognathia syndrome  
Craniofacioskeletal Syndrome 
Deafness, High-Frequency Sensorineural, X-Linked 
deafness-intellectual disability, Martin-Probst type syndrome  
Dilated Cardiomyopathy 3A  
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Epidermodysplasia Verruciformis, X-Linked 
Episodic Muscle Weakness, X-Linked 
Erythropoietic Protoporphyria, X-Linked Dominant  
External Ophthalmoplegia and Myopia 
Fabry disease +   
favism  
Fetal Akinesia Syndrome, X-Linked 
glycogen storage disease VIII 
Hereditary Macular Coloboma  
Hittner Hirsch Kreh Syndrome  
Hodgkin Disease, X-Linked Pseudoautosomal 
Hydrocephalus with Cerebellar Agenesis 
Hypertrichosis Congenital Generalized X-Linked 
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 
Idiopathic Short Stature, X-Linked  
immunodeficiency 61  
Intracranial Berry Aneurysm 5 
Isolated Microphthalmia with Coloboma +   
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Kahrizi syndrome  
Leigh Syndrome, X-Linked  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macular Dystrophy, X-Linked +   
major affective disorder 2 
Marles Greenberg Persaud Syndrome  
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
Meester-Loeys syndrome  
Melnick-Needles syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Microcephaly Microcornea Syndrome Seemanova Type 
Microphthalmia and Mental Deficiency 
Microphthalmia Associated with Colobomatous Cyst 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 
Midline Defects, X-Linked 
Multiple Pterygium Syndrome, X-Linked 
Myopia 1 
Myopia 13 
Myopia 26, X-Linked, Female-Limited  
Nasopalpebral Lipoma Coloboma Syndrome  
NEMO Mutation with Immunodeficiency 
Nephrogenic Syndrome of Inappropriate Antidiuresis  
Neural Tube Defects X-Linked 
Nystagmus 5, Infantile Periodic Alternating 
Ogden syndrome  
optic atrophy 2 
ornithine carbamoyltransferase deficiency  
Otodental Dysplasia 
ovarian dysgenesis 2  
Parkinson's Disease 12 
Partial Agenesis of Corpus Callosum, X-Linked  
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Pfeiffer Mayer Syndrome 
Premature Ovarian Failure 2a  
Progressive Muscular Dystrophy, Pectorodorsal 
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Proud Syndrome  
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
reducing body myopathy 1B  
renal coloboma syndrome  
Reticuloendotheliosis, X-Linked 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Russell-Silver Syndrome, X-Linked 
Selective Tooth Agenesis, X-Linked, 1  
Severe Congenital Neutropenia, X-Linked  
Sketetal Dysplasia Coarse Facies Mental Retardation  
Spina Bifida, X-Linked 
split hand-foot malformation 2 
Spondyloepimetaphyseal Dysplasia, X-Linked  
Spondylometaphyseal Dysplasia, X-Linked 
Surfactant Metabolism Dysfunction, Pulmonary, 4  
syndromic microphthalmia 13  
syndromic microphthalmia 14  
TARP syndrome  
Temtamy syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Testicular Germ Cell Tumor 1 
Thrombocythemia, X-Linked 
Thrombocytopenia 1  
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
uveal coloboma-cleft lip and palate-intellectual disability  
Vasquez Hurst Sotos Syndrome 
Von Willebrand Disease, X-Linked Form 
Wells Jankovic Syndrome 
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  
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 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, with or without Deafness  
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 
Yim Ebbin Syndrome 
Zunich Neuroectodermal Syndrome  

Synonyms
Primary IDs: OMIM:300864
Definition Sources: OMIM:300864

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