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Term:
Parent Terms Term With Siblings Child Terms
collagen disease +     
monogenic disease +     
nephritis +     
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Allanson Pantzar McLeod Syndrome +   
Alport syndrome +   
A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.
amyotrophic lateral sclerosis +   
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis  
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 
autosomal genetic disease +   
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Bartter disease +   
basal laminar drusen  
Beaulieu-Boycott-Innes Syndrome  
Bifid or Double Ureter 
blepharophimosis, ptosis, and epicanthus inversus syndrome  
Brugada syndrome 2  
Brugada syndrome 3  
Brugada syndrome 4  
Brugada syndrome 5  
Brugada syndrome 6  
Brugada syndrome 8  
Calabro Syndrome 
Camurati-Engelmann disease +   
Cardiac-Urogenital Syndrome  
cardiofaciocutaneous syndrome +   
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
Cayman type cerebellar ataxia  
Charcot-Marie-Tooth disease +   
chromosome 1p32-p31 deletion syndrome  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Collagenosis, Familial Reactive Perforating 
cone-rod dystrophy +   
cryptorchidism +   
disseminated eosinophilic collagen disease 
DK Phocomelia Syndrome 
Duker Weiss Siber syndrome 
Dyschondrosteosis and Nephritis 
Ehlers-Danlos syndrome +   
epidermolysis bullosa dystrophica +   
Epispadias +   
Familial Cutaneous Collagenoma  
Fraser syndrome +   
Fused Kidney  
Genitopatellar Syndrome  
Genitourinary Tract Anomalies 
glomerulonephritis +   
hand-foot-genital syndrome  
Hypertensive Nephropathy  
hypospadias +   
IMAGe syndrome  
IMAGEI Syndrome  
interstitial nephritis +   
Keloid +   
Kniest dysplasia  
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
Lissencephaly, X-Linked, 2  
Microcephaly Seizures Genital Hypoplasia 
Microphthalmia, Syndromic 6  
mixed connective tissue disease  
Multicystic Dysplastic Kidney +   
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Myotubular Myopathy with Abnormal Genital Development 
Necrobiotic Disorders +  
Nephrosis Deafness Urinary Tract Digital Malformation 
Omphalocele Exstrophy Imperforate Anus 
Opitz-GBBB syndrome +   
osteogenesis imperfecta +   
Piepkorn Karp Hickok syndrome 
polymyalgia rheumatica  
popliteal pterygium syndrome +   
Proud Syndrome  
Pyelectasis 
pyelitis +   
renal agenesis +   
Renal Dysplasia - Limb Defects Syndrome 
Renal, Genital, and Middle Ear Anomalies 
Retrocaval Ureter 
Robinow syndrome +   
Rosselli-Gulienetti Syndrome 
scleroderma +   
sex development disorder +   
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 
Structural Heart Defects and Renal Anomalies Syndrome  
Systemic Lupus Erythematosus with Nephritis 
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations  
Urinary Fistula +  
Uterine Anomalies 
X-linked monogenic disease +   
Y-linked monogenic disease +   
Yorifuji Okuno Syndrome 

Synonyms
Exact Synonyms: Alport's syndrome ;   Familial Nephritis ;   Hematuria Nephropathy Deafness Syndrome ;   Hematuric Hereditary Nephritis ;   Hemorrhagic Familial Nephritis ;   Hemorrhagic Hereditary Nephritis ;   Hereditary Familial Congenital Hemorrhagic Nephritis ;   Hereditary Hematuria Syndrome ;   congenital hereditary hematuria ;   hereditary interstitial pyelonephritis ;   hereditary nephritis
Primary IDs: MESH:D009394
Alternate IDs: RDO:0000652
Xrefs: GARD:5785 ;   OMIM:PS301050 ;   ORDO:63
Definition Sources: MESH:D009394, http://en.wikipedia.org/wiki/Alport_syndrome

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