Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandDwarfism (D004392)
Parent Node:
expandIchthyosis (D007057)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandKidney Diseases (D007674)
..Starting node
..expandIchthyosis, mental retardation, dwarfism, and renal impairment (C536274)

       Child Nodes:



 Sister Nodes: 
..expand46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
..expandAIDS-Associated Nephropathy (D016263)
..expandAlsing syndrome (C536588)
..expandAnuria (D001002)
..expandArnold Stickler Bourne syndrome (C537431)
..expandAtherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..expandBifid Nose With Or Without Anorectal And Renal Anomalies (C567672)
..expandBlue diaper syndrome (C536239)
..expandComplement Factor H Deficiency (C562875)
..expandDiabetes Insipidus (D003919) Child10
..expandDiabetic Nephropathies (D003928) Child4
..expandDimauro disease (C536176)
..expandFanconi Syndrome (D005198) Child3
..expandHepatorenal Syndrome (D006530)
..expandHereditary renal agenesis (C536482)
..expandHerrmann syndrome (C538113)
..expandHydranencephaly with Renal Aplasia-Dysplasia (C565507)
..expandHydronephrosis (D006869) Child5
..expandHyperoxaluria (D006959) Child4
..expandHypertension, Renal (D006977) Child3
..expandHYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1 (OMIM:162000)
..expandHYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 (OMIM:614227)
..expandIchthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..expandInfundibulopelvic dysgenesis (C535528)
..expandJejunal atresia with renal adysplasia (C537567)
..expandJoubert syndrome 5 (C537688)
..expandJoubert syndrome 6 (C537689)
..expandJoubert Syndrome 9 (C567364)
..expandJuvenile gout (C537696)
..expandKidney Cortex Necrosis (D007673)
..expandKidney Diseases, Cystic (D052177) Child52
..expandKidney Neoplasms (D007680) Child23
..expandKidney Papillary Necrosis (D007681)
..expandLachiewicz Sibley syndrome (C538131)
..expandLipoprotein Glomerulopathy (C567089)
..expandLymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus (C567188)
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
..expandNephritis (D009393) Child51
..expandNephrocalcinosis (D009397) Child6
..expandNephrolithiasis (D053040) Child11
..expandNEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
..expandNephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..expandNephrosclerosis (D009400)
..expandNephrosis (D009401) Child22
..expandPerinephritis (D010501)
..expandRadio renal syndrome (C536267)
..expandRen-Related Kidney Disease (C580420)
..expandRenal Artery Obstruction (D012078)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRenal Hypodysplasia, Nonsyndromic, 1 (C563661)
..expandRenal Insufficiency (D051437) Child15
..expandRenal Nutcracker Syndrome (D059228)
..expandRenal Osteodystrophy (D012080)
..expandRENAL TUBULAR DYSGENESIS (OMIM:267430)
..expandRenal Tubular Transport, Inborn Errors (D015499) Child76
..expandRenal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA (C564014)
..expandSelig Benacerraf Greene syndrome (C535840)
..expandSex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs (C567517)
..expandSiegler Brewer Carey syndrome (C537335)
..expandSpastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..expandThrombocytopenia with Elevated Serum Iga and Renal Disease (C564051)
..expandThyrocerebral-retinal syndrome (C536908)
..expandTuberculosis, Renal (D014398)
..expandUremia (D014511) Child4
..expandZellweger Syndrome (D015211) Child3
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5686
Name:Ichthyosis, mental retardation, dwarfism, and renal impairment
Definition:
Alternative IDs:
ParentIDs:MESH:D004392|MESH:D007057|MESH:D007674|MESH:D008607
TreeNumbers:C05.116.099.343/C536274 |C10.597.606.643/C536274 |C12.777.419/C536274 |C13.351.968.419/C536274 |C16.131.831.512/C536274 |C16.320.240/C536274 |C16.614.492/C536274 |C17.800.428.333/C536274 |C17.800.804.512/C536274 |C19.297/C536274 |C23.888.592.604.646/C536274 |F03.55
Synonyms:
Slim Mappings:Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Infant-newborn disease|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms|Skin disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C536274
MeSH: C536274
OMIM: 242530;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007479Congenital nonbullous ichthyosiform erythroderma
3 HP:0012213Decreased glomerular filtration rate
4 HP:0003259Elevated circulating creatinine concentration
5 HP:0001249Intellectual disability
6 HP:0000112Nephropathy
7 HP:0003510Severe short stature
Disease Causing ClinVar Variants