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Ontology Browser

Parent Terms Term With Siblings Child Terms
hydrocephalus +     
hypospadias +     
46,XY sex reversal 2  
Aase Smith Syndrome 
Abruzzo-Erickson syndrome  
Achromatopsia Incomplete, X-Linked 
Acro-Osteolysis +   
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Aicardi syndrome  
alpha-thalassemia myelodysplasia syndrome  
Alzheimer's disease 16 
AMME complex 
Anal Atresia, Hypospadias, and Penoscrotal Inversion  
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
Angel Shaped Phalangoepiphyseal Dysplasia 
angioma serpiginosum +  
Arthrogryposis, X-Linked, Type V 
Au-Kline Syndrome  
Baby Rattle Pelvis Dysplasia 
Baker Vinters Syndrome 
Battaglia Neri Syndrome 
Bazopoulou Kyrkanidou Syndrome 
Beemer Ertbruggen Syndrome 
Bellini Chiumello Rimoldi Syndrome 
Bent Bone Dysplasia Syndrome +   
Blount's disease 
Bor-Duane Hydrocephalus Contiguous Gene Syndrome 
Bornholm Eye Disease 
Brachymesomelia Renal Syndrome 
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Brittle Bone Disorder 
Bullous Dystrophy, Hereditary Macular Type 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
cataract 40  
Cervical Vertebral Dysplasia 
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
CHOPS Syndrome  
Choroideremia +   
Chromosome Xq28 Duplication Syndrome  
Clark-Baraitser syndrome  
Cleft Palate with Ankyloglossia  
clubfoot +   
Cole-Carpenter syndrome +   
combined T cell and B cell immunodeficiency +   
communicating hydrocephalus +   
Conductive Deafness with Ptosis and Skeletal Anomalies 
Congenital Adrenal Hypoplasia with Precocious Puberty 
Congenital Alopecia X-Linked 
congenital bilateral absence of vas deferens +   
Congenital Heart Defects, X-Linked +   
Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies  
Congenital Hydrocephalus 3, with Brain Anomalies  
Congenital Hydrocephalus 5  
congenital hypogammaglobulinemia 
congenital nystagmus 1  
Congenital Ptosis, Hereditary 2 
corpus callosum agenesis-abnormal genitalia syndrome  
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta 
Craniofacioskeletal Syndrome 
craniolenticulosutural dysplasia  
Daentl Towsend Siegel Syndrome 
Daish Hardman Lamont Syndrome 
Dandy-Walker syndrome +   
De Hauwere syndrome  
developmental and epileptic encephalopathy 90  
developmental dysplasia of the hip +   
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
Dilated Cardiomyopathy 3A 
Disproportionate Tall Stature  
Dwarfism +   
dysostosis +   
Dysplasia Epiphysealis Hemimelica +  
Edinburgh Malformation Syndrome 
Elsahy-Waters syndrome  
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis 
Epidermodysplasia Verruciformis, X-Linked 
Episodic Muscle Weakness, X-Linked 
External Ophthalmoplegia and Myopia 
Fabry disease +   
fetal akinesia deformation sequence syndrome X-linked 
Fountain Syndrome 
Fryns Hofkens Fabry Syndrome 
Fuhrmann syndrome  
Funnel Chest +   
Game Friedman Paradice Syndrome 
Gigantism +   
Gorham's disease +   
Gracile Bone Dysplasia  
Gurrieri Sammito Bellussi Syndrome 
Guttmacher syndrome  
Hall Riggs Mental Retardation Syndrome 
High-Frequency Deafness, Sensorineural, X-Linked 
Hodgkin Disease, X-Linked Pseudoautosomal 
Hydrocephalus with Cerebellar Agenesis 
Hydrocephalus, Autosomal Dominant 
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 
Hydrocephalus, Skeletal Anomalies, and Mental Disturbance 
hydrolethalus syndrome +   
Hypertrichosis Congenital Generalized X-Linked 
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Hypospadias 3, Autosomal 
Hypospadias 4 
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 
Hypospadias-Mental Retardation Syndrome 
intracranial berry aneurysm 5 
Iris Dysplasia Hypertelorism Deafness 
Isolated Noncompaction of the Ventricular Myocardium +   
Kantaputra Gorlin Syndrome 
KBG syndrome  
Kozlowski Brown Hardwick Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Warren Fisher Syndrome 
Kyphomelic Dysplasia 
Leg Length Inequality 
Leigh Syndrome, X-Linked  
Lenz-Majewski hyperostotic dwarfism  
Lethal Bone Dysplasia, Holmgren Type 
Lissencephaly Type III and Bone Dysplasia 
Macroepiphyseal Dysplasia, McAlister Coe Type 
mandibuloacral dysplasia +   
Marfan syndrome +   
Marshall-Smith syndrome  
McLeod syndrome  
Meester-Loeys syndrome  
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
Melnick-Needles syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
Membranous Cranial Ossification, Delayed 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Limb Shortening and Bowing 
Microcephaly Microcornea Syndrome Seemanova Type 
Microphthalmia/Coloboma 1 
Midline Defects, X-Linked 
Miura type epiphyseal chondrodysplasia  
Multiple Pterygium Syndrome, X-Linked 
Myopia 1 
Myopia 13 
Myopia 26, X-Linked, Female-Limited  
Naguib-Richieri-Costa Syndrome 
NEMO Mutation with Immunodeficiency 
Neural Tube Defects X-Linked 
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
nevoid basal cell carcinoma syndrome +   
normal pressure hydrocephalus +   
Nystagmus 5, Infantile Periodic Alternating 
obstructive hydrocephalus  
Ogden syndrome  
Opitz GBBB syndrome  
optic atrophy 2  
ornithine carbamoyltransferase deficiency  
osteochondrodysplasia +   
Osteofibrous Dysplasia  
Osteosclerosis with Ichthyosis and Premature Ovarian Failure 
ovarian dysgenesis 2 +   
Palmer Pagon Syndrome 
Parkinson's Disease 12 
Partial Agenesis of Corpus Callosum, X-Linked  
Patterson Pseudoleprechaunism Syndrome 
Pectus Carinatum  
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Platybasia +  
Pointer Syndrome 
Posthemorrhagic Hydrocephalus  
Prenatal Bowing 
primary ovarian insufficiency 1  
Progressive Muscular Dystrophy, Pectorodorsal 
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Proteus syndrome +   
Pseudovaginal Perineoscrotal Hypospadias  
Pulmonary Surfactant Metabolism Dysfunction 4  
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
reducing body myopathy 1B  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6  
Rhizomelic Dysplasia Patterson Lowry Type 
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
Rhizomelic Syndrome 
Roifman-Chitayat Syndrome  
Russell-Silver Syndrome, X-Linked 
Santos Syndrome 
scalp-ear-nipple syndrome  
Schilbach-Rott Syndrome 
Schwartz Cohen-Addad Lambert Syndrome 
Selective Tooth Agenesis, X-Linked, 1  
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities  
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
SHOX-related short stature  
Shwachman-Diamond Syndrome 2  
Skeletal Defects, Genital Hypoplasia, And Mental Retardation  
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal  
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification 
Sketetal Dysplasia Coarse Facies Mental Retardation  
Spina Bifida, X-Linked 
split hand-foot malformation +   
split hand-foot malformation 2 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondylometaphyseal Dysplasia, X-Linked 
Spranger Schinzel Myers Syndrome 
Stoll Levy Francfort Syndrome 
Stratton-Parker Syndrome 
syndromic microphthalmia 13  
Systemic Autoinflammatory Disease, X-Linked  
TARP syndrome  
terminal osseous dysplasia  
Testicular Germ Cell Tumor 1 
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thrombocythemia, X-Linked 
Thrombocytopenia 1  
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Trichoodontoonychial Dysplasia 
Ulnar Hypoplasia with Mental Retardation 
Vasquez Hurst Sotos Syndrome 
ventriculomegaly - cystic kidney disease  
Ventriculomegaly with Defects of the Radius and Kidney 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
VEXAS syndrome  
vitamin D-dependent rickets +   
Von Willebrand Disease, X-Linked Form 
Waaler Aarskog Syndrome 
Weismann Netter Syndrome 
Wiedemann Oldigs Oppermann Syndrome 
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  
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 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 VACTERL association  
X-Linked Vesicoureteral Reflux 
Yim Ebbin Syndrome 

Exact Synonyms: Radial Aplasia And Anogenital Anomalies ;   Radial aplasia, X-linked
Primary IDs: MESH:C535281
Alternate IDs: MIM:312190

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