Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
kidney disease +     
muscular disease +     
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs  
AIDS-Associated Nephropathy  
Alsing Syndrome 
anuria +   
Arnold Stickler Bourne Syndrome 
Arthrogryposis +   
atheroembolism of kidney 
atrophic muscular disease +   
Autoimmune Interstitial Lung, Joint, and Kidney Disease  
Axial Myopathy, Late-Onset +   
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Bifid Nose with or without Anorectal And Renal Anomalies  
Blue Diaper Syndrome 
CAKUT1  
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
Carey-Fineman-Ziter syndrome  
chronic fatigue syndrome  
compartment syndrome +   
Complement Factor H Deficiency  
Congenital Myopathy with Neuropathy and Deafness  
Contracture +   
Craniomandibular Disorders +   
cystic kidney disease +   
diabetes insipidus +   
Diabetic Nephropathies  
diaphragm disease +   
Dimauro Disease  
dioctophymiasis 
Early-Onset Myopathy with Fatal Cardiomyopathy  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
eosinophilia-myalgia syndrome  
Erythrocyte Amp Deaminase Deficiency  
Erythrocyte Lactate Transporter Defect  
familial juvenile hyperuricemic nephropathy +   
familial periodic paralysis +   
fibromyalgia +   
Fingerprint Body Myopathy 
Gamstorp-Wohlfart syndrome  
Glomerular Diseases +   
Goodpasture syndrome +   
granulomatosis with polyangiitis +   
Hantavirus hemorrhagic fever with renal syndrome +   
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
Herrmann Syndrome 
Hydranencephaly with Renal Aplasia-Dysplasia  
hydronephrosis +   
Hyperoxaluria +   
Hypertrophia Musculorum Vera 
hypophosphatemic nephrolithiasis/osteoporosis +   
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Infundibulopelvic Dysgenesis 
Internal Anal Sphincter Myopathy 
Jejunal Atresia with Renal Adysplasia 
Joubert syndrome 5  
Joubert syndrome 6  
Joubert syndrome 9  
kidney cortex disease +  
kidney failure +   
kidney hypertrophy 
Kidney Neoplasms +   
kidney papillary necrosis 
Kocher-Debre-Semelaigne Syndrome 
Lachiewicz Sibley Syndrome 
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Lipoprotein Glomerulopathy  
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus  
Marinesco-Sjogren syndrome  
Medial Tibial Stress Syndrome 
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
Muscle Cramp +   
Muscle Rigidity +   
Muscle Spasticity +   
muscle tissue disease +   
Muscle Weakness +   
Muscular Hypoplasia, Congenital Universal, of Krabbe 
Musculoskeletal Pain +   
Myalgia +   
myofascial pain syndrome +   
Myopathic Carnitine Deficiency 
Myopathy with Lactic Acidosis, Hereditary  
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia 
myositis +   
myostatin-related muscle hypertrophy  
myotonic disease +   
Myotoxicity 
nephritis +   
nephrocalcinosis +   
nephrogenic diabetes insipidus +   
nephrolithiasis +   
nephronophthisis-like nephropathy 1  
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
nephrosclerosis +   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
neutral lipid storage disease +   
obstructive nephropathy  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
orthostatic proteinuria 
Pectoralis Muscle, Absence of 
perinephritis 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
proteinuria +   
Proximal Myopathy with Focal Depletion of Mitochondria 
pyelitis +   
Radiation Nephropathy  
Radio Renal Syndrome 
renal agenesis +   
renal artery disease +   
renal artery obstruction +   
Renal Dysplasia - Limb Defects Syndrome 
renal fibrosis +   
renal hypertension +   
renal hypoplasia +   
renal infectious disease 
Renal Ischemia  
Renal Nutcracker Syndrome 
renal osteodystrophy  
renal tuberculosis  
Renal Tubular Dysgenesis  
renal tubular transport disease +   
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 
Rhabdomyolysis +   
secondary hyperparathyroidism of renal origin 
Selig Benacerraf Greene Syndrome 
Siegler Brewer Carey Syndrome 
Singleton Merten Syndrome +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
stricture or kinking of ureter 
systemic primary carnitine deficiency disease  
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
Thrombocytopenia with Elevated Serum Iga and Renal Disease 
Thyrocerebral-Retinal Syndrome 
Treft Sanborn Carey Syndrome 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
uremia +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Vacuolar Myopathy  
very long chain acyl-CoA dehydrogenase deficiency  
Webb-Dattani Syndrome  
Zellweger syndrome +   

Synonyms
Exact Synonyms: Deficiency Mutase Phosphoglycerate ;   Glycogen Storage Disease X ;   Gsd X ;   Gsd10 ;   Human muscle phosphoglycerate mutase deficiency ;   Myopathy due to phosphoglycerate mutase deficiency ;   PGAMM deficiency ;   Pgam Deficiency ;   Phosphoglycerate Mutase, Muscle, Deficiency of
Primary IDs: MESH:C536176 ;   RDO:0001651
Alternate IDs: OMIM:261670

paths to the root

NHLBI Logo

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