Ontology Browser

Term:
X-linked Alport syndrome (DOID:0110034)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3)
Parent Terms Term With Siblings Child Terms
Alport syndrome +     
Deafness +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
Albinism Deafness Syndrome 
alpha thalassemia-X-linked intellectual disability syndrome  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alport Syndrome-Like Hereditary Nephritis 
amelogenesis imperfecta type 1E  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
autosomal dominant Alport syndrome  
autosomal dominant keratitis-ichthyosis-deafness syndrome  
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 type 1E  
Charcot-Marie-Tooth disease X-linked dominant 1  
Charcot-Marie-Tooth disease X-linked dominant 6  
Christianson syndrome  
Coffin-Lowry syndrome  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, and Onychodystrophy, Autosomal Dominant  
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  
Coxoauricular Syndrome 
craniofrontonasal syndrome  
Daentl Towsend Siegel Syndrome 
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
DEAFNESS AND MYOPIA  
Deafness Hyperuricemia Neurologic Ataxia 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, Nephritis, Anorectal Malformation 
Deafness, Nonsyndromic, Modifier 1  
Deafness, with Smith-Magenis Syndrome  
Deafness, X-Linked 6  
Deafness, Y-Linked 1 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Fine-Lubinsky Syndrome 
focal dermal hypoplasia +   
Fountain Syndrome 
fragile X syndrome +   
hereditary spastic paraplegia 24 
Herrmann Syndrome 
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hyperlipoproteinemia Type II, and Deafness 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Ichthyosiform Erythroderma, Corneal Involvement, Deafness 
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Konigsmark Knox Hussels Syndrome 
Leiomyomatosis, Esophageal and Vulval, with Nephropathy 
Lynch Lee Murday syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
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  
Nasodigitoacoustic Syndrome  
Nathalie Syndrome 
Nephrosis Deafness Urinary Tract Digital Malformation 
neurodegeneration with brain iron accumulation 5  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
Ogden syndrome  
Opticocochleodentate Degeneration 
orofaciodigital syndrome I  
Perrault syndrome +   
Perrault Syndrome 3  
Progressive Nephropathy with Deafness 
Progressive Renal Failure with Hypertension  
Ramos Arroyo Clark Syndrome 
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Salcedo Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
Sinoatrial Node Dysfunction and Deafness  
temtamy preaxial brachydactyly syndrome  
Tibia, Absence of, with Congenital Deafness 
Tietz syndrome  
Wells Jankovic 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).
X-linked chondrodysplasia punctata 2  
X-linked dominant hypophosphatemic rickets  
X-Linked Mental Retardation Gustavson Type 
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
Yemenite Deaf-Blind Hypopigmentation Syndrome 

Synonyms
Exact Synonyms: ATS ;   ATS1 ;   Alport syndrome 1, X-linked ;   X-linked nephritis ;   nephropathy and deafness, X-linked
Primary IDs: OMIM:301050
Alternate IDs: OMIA:001112 ;   RDO:0008661
Xrefs: ORDO:88917
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/2349482

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