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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Alport syndrome +     
Deafness +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
46,XX sex reversal 1  
46,XX sex reversal 3 
Absence of Tibia with Congenital Deafness 
Albinism Deafness Syndrome 
alpha thalassemia-X-linked intellectual disability syndrome  
Alport Syndrome-Like Hereditary Nephritis 
amelogenesis imperfecta type 1E  
AMME complex 
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
autosomal dominant Alport syndrome  
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant nonsyndromic deafness 65  
autosomal recessive Alport syndrome  
Ayazi Syndrome 
Branchiogenic-Deafness Syndrome 
Burn-McKeown syndrome  
Cardioauditory Syndrome of Sanchez Cascos 
Charcot-Marie-Tooth disease X-linked dominant 1  
Charcot-Marie-Tooth disease X-linked dominant 6  
CHILD syndrome  
Christianson syndrome  
chromosome Xp11.23-p11.22 duplication syndrome 
Coffin-Lowry syndrome  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, with Vitiligo and Achalasia 
congenital disorder of glycosylation type IIm  
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
Congenital Myopathy with Neuropathy and Deafness  
congenital nystagmus 5 
Cornelia de Lange syndrome 2  
Cornelia de Lange syndrome 5  
Coxoauricular Syndrome 
craniofrontonasal syndrome  
Danon disease  
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
deafness, dystonia, and cerebral hypomyelination  
Deafness, with Smith-Magenis Syndrome  
developmental and epileptic encephalopathy 2  
developmental and epileptic encephalopathy 36  
developmental and epileptic encephalopathy 85  
developmental and epileptic encephalopathy 9  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Erythropoietic Protoporphyria, X-Linked Dominant  
female-restricted syndromic X-linked intellectual disability 99  
Fine-Lubinsky Syndrome  
focal dermal hypoplasia  
Fountain Syndrome 
fragile X syndrome +   
hereditary spastic paraplegia 24 
Herrmann Syndrome 
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Holoprosencephaly 13, X-linked  
Hyperlipoproteinemia Type II, and Deafness 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypokalemic Tubulopathy and Deafness  
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Keipert syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
Konigsmark Knox Hussels Syndrome 
LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME 
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
linear skin defects with multiple congenital anomalies 1  
linear skin defects with multiple congenital anomalies 2  
linear skin defects with multiple congenital anomalies 3  
Lisch epithelial corneal dystrophy  
Lynch Lee Murday syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Deafness Syndrome 
Muckle-Wells syndrome  
multiple synostoses syndrome 1  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
Nance-Horan syndrome  
Nathalie Syndrome 
Nephrosis with Deafness and Urinary Tract and Digital Malformations 
neurodegeneration with brain iron accumulation 5  
non-syndromic X-linked intellectual disability 1  
non-syndromic X-linked intellectual disability 107  
non-syndromic X-linked intellectual disability 19  
non-syndromic X-linked intellectual disability 2 
non-syndromic X-linked intellectual disability 41  
non-syndromic X-linked intellectual disability 63  
non-syndromic X-linked intellectual disability 89 
non-syndromic X-linked intellectual disability 91  
non-syndromic X-linked intellectual disability 98  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonphotosensitive trichothiodystrophy 5  
nonsyndromic deafness +   
Opticocochleodentate Degeneration 
orofaciodigital syndrome I  
otopalatodigital syndrome type 1  
otopalatodigital syndrome type 2  
Perrault syndrome +   
primary ovarian insufficiency 2A  
Progressive Nephropathy with Deafness 
Ramos Arroyo Clark Syndrome 
Raynaud-Claes syndrome  
reducing body myopathy 1A  
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
Siddiqi syndrome  
Sinoatrial Node Dysfunction and Deafness  
spastic paraplegia with deafness 
syndromic microphthalmia 2  
temtamy preaxial brachydactyly syndrome  
Tietz syndrome  
Wright Dyck Syndrome 
X-linked Alport syndrome  
An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). (DO)
X-linked chondrodysplasia punctata 2 +   
X-linked dominant hypophosphatemic rickets  
X-linked endothelial corneal dystrophy 
X-linked mental retardation Gustavson type  
X-linked mental retardation-hypotonic facies syndrome-1  
X-linked retinitis pigmentosa and sinorespiratory infections  
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Exact Synonyms: ALPORT SYNDROME 1, X-LINKED RECESSIVE ;   ATS ;   ATS1 ;   COL4A5-RELATED CONDITION ;   X-linked Alport syndrome-1 ;   X-linked nephritis ;   nephropathy and deafness, X-linked
Primary IDs: MIM:301050
Alternate IDs: OMIA:001112
Xrefs: ORDO:88917
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/2349482 "DO" "DO"

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