Kidney (Inherited diseases) |
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wiki |
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Niere (Hereditaere Erkrankungen) |
Hereditary diseases of the kidney |
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Kidney (Malformation) |
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Niere (Fehlbildung) |
Malformation of the Kidneys |
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Endowment
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Kidney (Endowment) |
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Niere (Endowment)
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Oligomeganephronia |
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Oligomeganephronie
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HNF1beta |
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HNF1beta
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PAX2 |
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PAX2
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Developmental Field Defects
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nexist Kidney (Agenesis) |
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[21]
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nexist Caudal regression syndrome |
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[22]
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Sirenomelia |
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Sirenomyelie
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nexist Polytopic acrorenal developmental field defect |
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[23]
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Exstrophy epispadia complex |
ggov |
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Exstrophy Epispadia Komplex
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nexist Robinson s defect |
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[24]
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nexist Cloaca (Exstrophy) |
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[25]
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Mayer Rokitansky Kuster Hauser syndrome |
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Mayer Rokitansky Kuester Hauser Syndrom
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Hypospadia |
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Hypospadie
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Cleft plate |
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AWMF |
Lippenkiefergaumenspalte
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nexist Pallister Hall syndrome hamartoblastoma |
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[26]
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Goldenhar s syndrome |
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Goldenhar Syndrom |
Goldenhar s syndrome |
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nexist Poland anomaly |
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[27]
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nexist Radius (Aplasia) |
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[28]
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nexist Syndactyly |
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[29]
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nexist Hand and wrist (Malformation) |
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Hand und Handgelenk (Fehlbildung)
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nexist Acrorenal field (Development) |
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[30]
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Spina bifida |
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Spina bifida
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Cystic dysplastic and tubulointerstitial - associations
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CHARGE syndrome |
ggov |
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CHARGE Syndrom
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MURCKS association |
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MURCKS Assoziation
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VACTERL association |
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VACTERL Erkrankung
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Opitz syndrome |
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Opitz Syndrom
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nexist Hydrolethalus syndrome |
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[31]
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Disruption Sequences toxic
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Fetal alcohol syndrome |
ggov |
wiki |
AWMF |
Fetales Alkohol Syndrom
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Diabetes mellitus (Child of diabetic mother) |
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AWMF |
Diabetes mellitus (Kind der diabetischen Mutter)
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nexist Fetal warfarin syndrome |
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[32]
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Thalidomide |
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Thalidomid
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Diethylstilbestrol |
ggov |
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Diethylstilbestrol
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Rubella |
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AWMF |
Roeteln
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Cystic dysplastic and tubulointerstitial - obstructive
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Urinary tract (Obstructive uropathy) |
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AWMF |
Harnwege (Obstruktive Uropathie)
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Urinary tract (Vesico ureteral reflux) |
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AWMF |
Harnwege (Vesiko ureteraler Reflux)
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Urinary tract (Malformation) |
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Harnwege (Fehlbildung)
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Urethra (Urethral valve) |
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Harnroehre (Urethralklappe)
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Urethra (Stricture and stenosis) |
ggov |
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Harnroehre (Stenose)
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Urethra (Diverticulum) |
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Harnroehre (Divertikel)
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Prune Belly syndrome |
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Prune Belly Syndrom
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nexist Oligohydramnios Potter |
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[33]
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Ureter (Ureteropelvic junction obstruction) |
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Harnleiter (Ureteropelvic Junction Obstruction)
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nexist Urinary tract (Ureterovesical junction obstruction) |
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[34]
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Megaureter |
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Megaureter
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nexist Urinary bladder (Megacystis) |
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[35]
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Urinary bladder (Neurogenic bladder) |
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[36]
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Cystic dysplastic and tubulointerstitial - primary
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nexist Medullary sponge kidney |
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[37]
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nexist Medullary cystic disease |
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[38]
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Uromodulin |
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wiki |
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Uromodulin
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Kidney (Nephronophthisis) |
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Niere (Nephronophthise)
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NPHP1 |
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NPHP1
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NPHP2 |
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NPHP2
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NPHP3 |
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NPHP3
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NPHP4 |
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NPHP4
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NPHP5 |
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NPHP5
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NPHP6 |
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NPHP6
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NPHP7 |
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NPHP7
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NPHP8 |
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NPHP8
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NPHP9 |
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NPHP9
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Senior Loken s syndrome |
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Senior Loken Syndrom
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Kidney (Polycystic kidney disease) |
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Niere (Polyzystische Nierendegeneration)
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Polycystin |
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Polycystin
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PKD1 |
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PKD1
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PKD2 |
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PKD2
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Cilia |
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wiki |
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Zilie |
Cilia and Ciliopathies |
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nexist PKHD1 |
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[39]
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Glomerulopathy (Glomerulocystic nephropathy) |
ggov |
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Glomerulopathie (Glomerulozystische Nephropathie)
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Liver (Fibrosis congenital) |
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Leber (Fibrose kongenital)
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Cystic dysplastic and tubulointerstitial - secondary
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Jeune s syndrome |
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Jeune Syndrom
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Alstrom s syndrome |
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Alstrom Syndrom
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Bardet Biedl syndrome |
ggov |
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Bardet Biedl Syndrom
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nexist Laurence Moon Biedl is Bardet Biedl |
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[40]
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nexist TTC8 |
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[41]
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nexist Ivemark s syndrome |
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[42]
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Ellis van Creveld s syndrome |
ggov |
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Ellis van Creveld Syndrom
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nexist Robert s syndrome |
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[43]
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Glutaric aciduria type II |
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Glutaric Aciduria type II
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nexist Langer s Brachymesomelia renal syndrome |
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[44]
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nexist Ulbrigth s syndrome |
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[45]
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nexist Huber s syndrome |
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[46]
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nexist Leclerc s syndrome |
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[47]
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Rubinstein Taybi syndrome |
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wiki |
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Rubinstein Taybi Syndrom
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Russell Silver s syndrome |
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Russell Silver Syndrom
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nexist Goeminne s syndrome |
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[48]
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Kallmann s syndrome |
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Kallmann Syndrom
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nexist Oro facio digital dysplasia OFD1 |
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[49]
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nexist Swyer s syndrome |
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[50]
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nexist Daentl s syndrome |
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[51]
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nexist Crome s syndrome |
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[52]
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Galloway Mowat s syndrome |
ggov |
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Galloway Mowat Syndrom
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nexist Passwell s syndrome |
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[53]
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Johanson Bizzard s syndrome |
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Johanson Bizzard Syndrom
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nexist Hunter Jurenka syndrome |
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[54]
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nexist Ozer s syndrome |
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[55]
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nexist Roberts syndrome SC syndrome |
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[56]
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Marden Walker s syndrome |
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Marden Walker Syndrom
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nexist Winter s syndrome |
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[57]
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nexist Gil Gibernar syndrome |
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[58]
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nexist TAR Thrombocytopenia absent radius syndrome |
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[59]
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nexist Fryns syndrome |
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[60]
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nexist Goldston s syndrome |
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[61]
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nexist Miranda s syndrome |
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[62]
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nexist Kaufmann s syndrome |
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[63]
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Meckel s syndrome |
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Meckel Syndrom
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Walker Warburg syndrome |
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wiki |
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Walker Warburg Syndrom
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Smith Lemli Opitz syndrome |
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Smith Lemli Opitz Syndrom
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nexist Sinclair Smith sndrome |
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[64]
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Rhizomelic chondrodysplasia punctata |
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Rhizomelic Chondrodysplasia Punctata
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nexist Saladino Noonan syndrome short rib polydactyly I |
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[65]
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nexist Majewski s syndrome short rib polydactyly II |
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[66]
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nexist Elejalde s syndrome acrocephalopolydactylous dyplasia |
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[67]
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Schinzel Giedion syndrome |
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Schinzel Giedion Syndrom
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Cockayne s syndrome |
ggov |
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Cockayne Syndrom
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Cornelia de Lange syndrome |
ggov |
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Cornelia de Lange Syndrom
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nexist Ochoa s syndrome |
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[68]
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nexist Myotonic dystrophy w polycystic kidney |
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[69]
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Townes Brocks syndrome |
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Townes Brocks Syndrom
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Saethre Chotzen syndrome |
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Saethre Chotzen Syndrom
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BOR Syndrome |
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[70]
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Alagille s syndrome |
ggov |
wiki |
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Alagille Syndrom
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Leopard syndrome |
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[71]
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EEC syndrome |
ggov |
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EEC Syndrom
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Von Hippel Lindau syndrome |
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wiki |
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Von Hippel Lindau Syndrom
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VHL |
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wiki |
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VHL
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Klippel Trenaunay syndrome |
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Klippel Trenaunay Syndrom
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Tuberous sclerosis |
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wiki |
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Tuberoese Sklerose
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TSC1 |
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[72]
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TSC2 |
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[73]
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Ehlers Danlos syndrome |
ggov |
wiki |
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Ehlers Danlos Syndrom
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nexist Lundin Olow familial renal dysplasia |
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[74]
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Peutz Jeghers syndrome |
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Peutz Jeghers Syndrom
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nexist Meckel Gruber syndrome dysencephalia splanchnocystica |
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[75]
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nexist MSK1 |
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[76]
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nexist MSK3 |
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[77]
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nexist FG Syndrome |
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[78]
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nexist Bowen Conradi syndrome |
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[79]
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nexist Rudiger Syndrome |
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[80]
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nexist Freeman Sheldon syndrome cranio carpo tarsal dysplasia |
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[81]
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Neurofibromatosis |
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wiki |
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Neurofibromatose
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nexist Epidermal nevus syndrome |
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[82]
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Blue rubber bleb nevus |
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Blue Rubber Bleb Nevus
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Gorlin Goltz phacomatosis |
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[83]
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Gardner s syndrome |
ggov |
wiki |
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Gardner Syndrom
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nexist Erythrocyte (Spherocytosis) |
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[84]
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Wiskott Aldrich syndrome |
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Wiskott Aldrich Syndrom
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nexist Platelets (Thrombocytopenia familial) |
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[85]
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DiGeorge s syndrome |
ggov |
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DiGeorge Syndrom
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Catch22 |
ggov |
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Catch22
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Hemophilia A |
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wiki |
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Haemophilie A
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Hemophilia B |
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wiki |
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Haemophilie B
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nexist Meltzer s syndrome |
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[86]
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Epidermolysis bullosa |
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AWMF |
Epidermolysis bullosa
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Hypohidrotic ectodermal dysplasia |
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Hypohidrotische ektodermale Dysplasie
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Bloom s syndrome |
ggov |
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Bloom Syndrom
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nexist Mammo renal syndrome |
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[87]
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nexist Netherton s syndrome |
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[88]
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CHILD syndrome |
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CHILD Syndrom
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Marfan s syndrome |
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Marfan Syndrom
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Cutis laxa syndrome |
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Cutis laxa syndrome
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nexist Pseudoxanthoma elasticum |
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wiki |
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Pseudoxanthoma elasticum
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nexist Frontonasal dysplasia |
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[89]
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nexist Weyers Thier syndrome |
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[90]
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Klippel Feil syndrome |
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Klippel Feil Syndrom
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nexist Elsahy Waters syndrome |
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[91]
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nexist Spondylocostal dysostosis |
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[92]
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nexist Cerebro costo mandibular syndrome |
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[93]
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nexist Aglossia adactyly syndrome |
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[94]
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nexist Camptobrachydactyly |
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[95]
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nexist Syndactyly V |
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[96]
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nexist Dieker Opitz acro renal syndrome |
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[97]
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nexist Acro renal mandibular syndrome |
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[98]
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nexist Townes Kuvnit syndrome REAR syndrome |
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[99]
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nexist IVIC syndrome |
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[100]
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nexist Weyer s syndrome |
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[101]
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nexist Pallister s syndrome |
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[102]
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Anemia (Fanconi s anemia) |
ggov |
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Anaemie (Fanconi Anaemie)
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nexist Hand foot ... syndrome |
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[103]
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nexist Osteolysis w nephropathy |
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[104]
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nexist Hajdu Cheney syndrome |
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[105]
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Achondrogenesis |
ggov |
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Achondrogenese
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Thanatophoric dwarfism |
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Thanatophoric Dwarfism
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Campomelic dysplasia |
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Campomelic dysplasia
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nexist Metatropic dysplasia |
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Metatropic dysplasia
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Robinow s syndrome |
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Robinow Syndrom
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nexist Larsen syndrome |
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[106]
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nexist Oto palato digital syndrome |
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[107]
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nexist Dyschondrosteosis |
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[108]
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nexist Schwachmann s syndrome |
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[109]
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nexist Giedion Langer Syndrome |
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[110]
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Trichorhinophalangeal syndrome |
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Trichorhinophalangeales Syndrom
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nexist Marble brain disease |
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[111]
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nexist Melnick Needles syndrome |
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[112]
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nexist Frontometaphyseal dysplasia |
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[113]
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Baller Gerold syndrome |
ggov |
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Baller Gerold Syndrom
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Antley Bixler syndrome |
ggov |
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Antley Bixler Syndrom
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nexist Apert s syndrome |
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[114]
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Waardenburg s syndrome |
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wiki |
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Waardenburg Syndrom
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nexist Carpenter s syndrome |
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[115]
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nexist C Trigonocephaly |
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[116]
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Juberg Hayward s syndrome |
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Juberg Hayward Syndrom
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Caroli s syndrome |
ggov |
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Caroli Syndrom
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nexist Lutz Richner syndrome |
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[117]
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nexist Baber s syndrome |
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[118]
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nexist Hepatic steatosis familial |
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[119]
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nexist Intestinal pseudoobstruction familial |
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[120]
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Intestinal pseudoobstruction |
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AWMF |
Intestinale Pseudoobstruktion
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nexist MMIH syndrome |
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[121]
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nexist Intestinal lymphangiectasia |
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[122]
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Hirschsprung s disease |
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AWMF |
Hirschsprung Erkrankung
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Crohn s disease |
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AWMF |
Crohn Erkrankung
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Colitis ulcerosa |
ggov |
wiki |
AWMF |
Colitis ulcerosa
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Inflammatory bowel diseases |
ggov |
wiki |
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Chronisch entzuendliche Darmerkrankungen
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nexist Kaufman McKusick syndrome |
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[123]
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nexist Meckel Gruber syndrome |
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[124]
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nexist Simopoulos syndrome |
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[125]
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nexist Passarge s syndrome |
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[126]
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Riley Day syndrome |
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AWMF |
Riley Day Syndrom
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Myotonic dystrophy |
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AWMF |
Myotone Dystrophie
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nexist Winter s syndrome |
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[127]
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nexist Braun Berger syndrome |
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[128]
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nexist Cayler s syndrome |
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[129]
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nexist Eastman Bixler syndrome |
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[130]
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Kartagener s syndrome Primary ciliary dyskinesia |
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wiki |
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Kartagener Syndrom Primary ciliary dyskinesia
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Diaphragmatic hernia (congenital) |
ggov |
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AWMF |
Zwerchfellhernie (Kongenital)
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Magen (Pylorus stenosis) |
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[131]
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nexist Mainzer Saladino syndrome |
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[132]
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nexist McCance syndrome |
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[133]
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nexist Denys oculo cerebro renal syndrome |
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[134]
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nexist Oculo renal cerebellar syndrome |
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[135]
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nexist Biemond s syndome II |
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[136]
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nexist Lacrimo auricular dento digital syndrome |
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[137]
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Sorsby fundus dystrophy |
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Sorsby Fundus Dystrophie
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Fraser s syndrome |
ggov |
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Fraser Syndrom
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Lenz microphthalmia |
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[138]
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nexist Abrozzo Erickson syndrome |
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[139]
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nexist Facio oculo acustico renal syndrome |
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[140]
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nexist HMC syndrome |
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[141]
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Seckel s syndrome |
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Seckel Syndrom
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nexist Pena Shokeir syndrome |
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[142]
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nexist Neu Laxova syndrome |
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[143]
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Coffin Siris syndrome |
ggov |
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Coffin Siris Syndrom
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nexist Dubowitz syndrome |
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Dubowitz Syndrom
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Noonan s syndrome |
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wiki |
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Noonan Syndrom
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Lipodystrophy |
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Lipodystrophie
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nexist Seip Berardinelli s syndrome |
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[144]
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nexist Lawrence s syndrome |
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[145]
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nexist Barraquer Simons syndrome |
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[146]
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nexist Leprechaunism |
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[147]
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Marshall Smith s syndrome |
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Marshall Smith Syndrom
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Adams Oliver syndrome |
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Adams Oliver Syndrom
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Wiskott Aldrich syndrome |
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Wiskott Aldrich Syndrom
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WASP |
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WASP
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nexist Amelogenesis imperfecta and nephrocalcinosis enamel renal syndrome |
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[148]
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nexist Arthrogryposis multiplex congenita |
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Arthrogryposis multiplex congenita
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nexist Barakat s syndrome |
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[149]
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nexist Cardio vertebro renal syndrome |
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[150]
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nexist Carnitine deficiency myopathy |
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[151]
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nexist Cerebro oculo facio skeletal syndrome |
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[152]
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Cohen s syndrome |
ggov |
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Cohen Syndrom
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nexist Coloboma of macula w type b brachydactyly |
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[153]
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Cystic fibrosis |
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wiki |
AWMF |
Zystische Fibrose
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nexist Dyssegmental dwarfism |
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[154]
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nexist Facio cardio renal syndrome |
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[155]
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nexist Fatty metamorphosis of the viscera |
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[156]
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nexist Femoral facial syndrome |
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[157]
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nexist Goltz focal dermal hypoplasia |
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[158]
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nexist Leukonychia totalis |
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[159]
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nexist N syndrome |
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[160]
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nexist Jebert Hayward oro cranio digital syndrome |
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[161]
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Osteogenesis imperfecta |
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Osteogenesis imperfecta
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nexist Osteolysis hereditary of carpal bones w nephropathy |
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[162]
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nexist Naurnoff polydactyly w hereditary chondrodystrophy type iii |
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[163]
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nexist Pulmonary stenosis w congenital nephrosis |
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[164]
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Rieger s syndrome |
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Rieger Syndrom
|
Schwartz Jampel syndrome |
|
|
|
Schwartz Jampel Syndrom
|
Shprintzen s syndrome |
|
|
|
Shprintzen Syndrom
|
nexist Testicular regression xy gonadal agenesis |
|
|
|
[165]
|
nexist Thallassemia B |
|
|
|
[166]
|
nexist Thyrotoxicosis renal disease absent frontal sinuses |
|
|
|
[167]
|
nexist Trimethadione |
|
|
|
[168]
|
nexist Wohltmann Caglar Syndrome |
|
|
|
[169]
|
Cystic dysplastic and tubulointerstitial - chromosome aberrations
|
nexist Trisomy8 |
|
|
|
[170]
|
Trisomy9 |
|
|
|
Trisomie9
|
Trisomy13 |
|
|
|
Trisomie13
|
Edward s syndrome |
|
|
|
Edward Syndrom
|
Down s syndrome |
ggov |
|
|
Down Syndrom
|
Triploidy |
|
|
|
Triploiditaet
|
Deletion 5p syndrome |
|
|
|
Deletion 5p Syndrom
|
nexist Deletion 9p syndrome |
|
|
|
[171]
|
nexist Deletion 11p syndrome |
|
|
|
[172]
|
Miller Dieker syndrome |
|
|
|
Miller Dieker Syndrom
|
nexist Deletion 18q syndrome |
|
|
|
[173]
|
nexist Cateye syndrome |
|
|
|
[174]
|
nexist Duplication 4p syndrome |
|
|
|
[175]
|
nexist Duplication 10q syndrome |
|
|
|
[176]
|
nexist Duplication 20p syndrome |
|
|
|
[177]
|
Turner s syndrome |
|
|
|
Turner Syndrom
|
nexist 47XYY snydome |
|
|
|
[178]
|
Klinefelter s syndrome |
|
|
|
Klinefelter Syndrom
|
Metabolic - Lysosomal
|
Cystinosis |
|
wiki |
|
Zystinose |
Cystinosis |
|
nexist CTNS |
|
|
|
[179]
|
Fabry s disease |
ggov |
|
|
Fabry Erkrankung
|
Agalsidase alfa |
|
|
|
Agalsidase alfa
|
alpha Galactosidase A |
|
|
|
alpha Galaktosidase A
|
Angiokeratoma corporis diffusum |
|
|
|
Angiokeratoma corporis diffusum
|
Gangliosidosis |
ggov |
|
|
Gangliosidose
|
nexist Gangliosidosis GM1 Landing s disease |
|
|
|
[180]
|
Ganglioside GM1 |
|
wiki |
|
Gangliosid GM1
|
nexist GM1 ganglioside beta Galactosidase |
|
|
|
[181]
|
Gangliosidosis GM2 |
ggov |
|
|
Gangliosidose GM2
|
Tay Sachs disease |
|
|
|
Tay Sachs Erkrankung
|
beta Hexosaminidase A |
|
|
|
beta Hexosaminidase A
|
Sandhoff disease |
|
|
|
Sandhoff Erkrankung
|
beta Hexosaminidase A |
|
|
|
beta Hexosaminidase A
|
nexist beta Hexosaminidase B |
|
|
|
[182]
|
Metachromatic leukodystrophy |
|
|
AWMF |
Metachromatische Leukodystrophie
|
nexist Arylsulfatase A |
|
|
|
[183]
|
Glycogenosis |
ggov |
wiki |
|
Glykogenose
|
nexist Glucosyl ceramidosis |
|
|
|
[184]
|
Gaucher s disease |
ggov |
|
|
Gaucher Erkrankung
|
nexist beta Glucosidase |
|
|
|
[185]
|
Pompe s disease |
|
|
|
[186]
|
alpha Glucosidase |
|
|
|
Alpha Glucosidase
|
nexist Multiple sulfatase deficiency |
|
|
|
[187]
|
nexist Arylsulfatase A |
|
|
|
[188]
|
Arylsulfatase B |
|
|
|
Arylsulfatase B
|
Steroid sulfatase |
|
|
|
Steroid Sulfatase
|
nexist Sulfoiduronate sulfatase |
|
|
|
[189]
|
Farber s disease |
|
|
|
[190]
|
Ceramidase |
|
wiki |
|
Ceramidase
|
nexist Niemann Pick disease A |
|
|
|
[191]
|
Sphingomyelinase |
|
wiki |
|
Sphingomyelinase
|
nexist Wolman s disease |
|
|
|
[192]
|
nexist Lysosomal acid lipase |
|
|
|
[193]
|
Hurler s syndrome |
|
|
|
Hurler syndrome
|
nexist alpha L iduronidase |
|
|
|
[194]
|
Scheie s syndrome |
|
|
|
Scheie Syndrom
|
nexist alpha L iduronidase |
|
|
|
[195]
|
nexist Sanfilippo s syndrome |
|
|
|
[196]
|
nexist alpha N acetyl hexosaminidase |
|
|
|
[197]
|
Von Gierke s disease |
|
|
|
Von Gierke Erkrankung
|
McArdle s syndrome |
|
|
|
McArdle Syndrom
|
nexist Sialidosis 1 |
|
|
|
[198]
|
nexist Mucolipidosis I |
|
|
|
[199]
|
nexist Cherry red spot myoclonus syndrome |
|
|
|
[200]
|
Sialic acid |
|
wiki |
|
Neuraminsaeure
|
nexist alpha Neuraminidase |
|
|
|
[201]
|
nexist Sialidosis 2 |
|
|
|
[202]
|
nexist alpha Neuraminidase beta Galactosidase stabilizer protein |
|
|
|
[203]
|
I cell disease |
|
|
|
I Cell Disease
|
nexist UDP N acetylglucosamine 1 phosphotransferase |
|
|
|
[204]
|
Glutamyl ribose 5 phosphate storage disease |
|
|
|
[205]
|
Metabolic - Peroxisomal
|
Zellweger s syndrome |
|
|
|
Zellweger Syndrom
|
Oxalosis |
|
wiki |
|
Oxalose
|
Oxalic acid (Hyperoxaluria) |
|
|
|
Oxalsaeure (Hyperoxalurie)
|
Oxalic acid |
|
wiki |
|
Oxalsaeure
|
Calcium oxalate |
|
|
|
Kalzium Oxalat
|
Alanine glyoxylate aminotransferase |
|
wiki |
|
Alanin Glyoxylat Aminotransferase
|
nexist Adrenoleukodystrophy neonatal lethal |
|
|
|
[206]
|
Acatalasemia |
|
|
|
Acatalasaemie
|
CAT Catalase |
|
|
|
CAT Catalase
|
Refsum s disease |
|
|
|
Refsum Erkrankung
|
nexist Phytanic acid oxidase |
|
|
|
[207]
|
Rhizomelic chondrodysplasia punctata |
|
|
|
Rhizomelic Chondrodysplasia Punctata
|
Metabolic - Others
|
LCAT deficiency |
|
|
|
LCAT Mangel
|
LCAT |
|
|
|
LCAT
|
nexist Wochner s syndrome |
|
|
|
[208]
|
nexist Hyperpipecolic acidemia |
|
|
|
[209]
|
Glutaric aciduria type II |
|
|
|
Glutaric Aciduria type II
|
nexist Nezelof s syndrome |
|
|
|
[210]
|
nexist Thyro cerebro renal syndrome |
|
|
|
[211]
|
nexist PTH (Hyperparathyreoidism neonatal) |
|
|
|
[212]
|
PTH (Hyperparathyreoidism BASKET) |
|
|
|
PTH (Hyperparathyreoidismus alle Formen)
|
nexist Adrenogenital syndrome |
|
|
|
[213]
|
21 hydroxylase deficiency |
ggov |
wiki |
|
21 Hydroxylase Mangel
|
Cushing s disease |
|
|
AWMF |
Cushing Erkrankung
|
Cushing s syndrome |
|
|
AWMF |
Cushing Syndrom
|
nexist Conn s syndrome |
|
|
|
[214]
|
Aldosterone (Pseudohypoaldosteronism) |
|
|
|
Aldosteron (Pseudohypoaldosteronismus)
|
Aldosterone Hypoaldosteronism) |
|
|
|
[215]
|
Wolcott Rallison syndrome |
|
|
|
Wolcott Rallison Syndrom
|
Menkes s disease |
|
wiki |
|
Menkes Erkrankung
|
nexist Frucrosemia |
|
|
|
[216]
|
nexist Hypermethioninemia |
|
|
|
[217]
|
Metabolic - Purines and Pyrimidines
|
nexist Hyperuricaemia familial |
|
|
|
[218]
|
Uric acid (Hyperuricemia) |
|
|
|
Harnsaeure (Hyperurikaemie)
|
nexist Phosphoribosylpyrophosphate synthetase overacticity |
|
|
|
[219]
|
Phosphoribosylpyrophosphate synthetase |
|
|
|
Phosphoribosylpyrophosphat Synthetase
|
Lesch Nyhan syndrome |
|
|
|
Lesch Nyhan Syndrom
|
nexist Adenine phosphoribosyl transferase deficiency |
|
|
|
[220]
|
Adenine phosphoribosyl transferase |
|
|
|
Adenin Phosphoribosyl Transferase
|
nexist Xanthine oxidase deficiency |
|
|
|
[221]
|
Xanthine oxidase |
|
|
|
Xanthin Oxidase
|
nexist Uric acid (Hypouricemia) |
|
|
|
[222]
|
Mediators, Complement
|
alpha1 Antitrypsin and its deficiency A1AT |
ggov |
wiki |
|
Alpha1 Antitrypsin und dessen Mangel A1AT
|
Complement system (Deficiency) |
|
|
|
Komplementsystem (Mangel)
|
C1q |
|
|
|
C1q
|
nexist C1r |
|
|
|
[223]
|
nexist C1s |
|
|
|
[224]
|
nexist C2 |
|
|
|
[225]
|
nexist C3 |
|
|
|
[226]
|
nexist C4 |
|
|
|
[227]
|
nexist C5 |
|
|
|
[228]
|
nexist C6 |
|
|
|
[229]
|
nexist C7 |
|
|
|
[230]
|
nexist C8 |
|
|
|
[231]
|
nexist C9 |
|
|
|
[232]
|
nexist Factor B (Complemet system) |
|
|
|
[233]
|
Factor H (Complement) |
|
|
|
Faktor H (Komplementsystem)
|
Properdin |
|
|
|
Properdin
|
nexist Factor I (Complement system) |
|
|
|
[234]
|
C1 esterase inhibitor deficiency |
ggov |
|
AWMF |
C1 Esterase Inhibitor Mangel
|
CD46 |
|
|
|
CD46
|
CFHR5 nephropathy |
|
|
|
Niere (CFHR5 Nephropathie)
|
Dense deposit disease |
ggov |
|
|
Dense Deposit Disease
|
Autoinflammatory syndromes |
ggov |
|
AWMF |
Autoinflammatorische Syndrome
|
Hyper immunoglobulin D syndrome |
|
wiki |
|
Hyper Immunglobulin D Syndrom
|
Papa s syndrome |
|
|
|
Papa Syndrom
|
Macrophage activation syndrome |
|
|
|
Makrophagen Aktivierungs Syndrom
|
Neonatal onset multi system inflammatory disease (NOMID) |
|
|
|
Neonatal onset multi system inflammatory disease (NOMID)
|
Hypocomplementemic urticarial vasculitis |
|
wiki |
|
Hypocomplementemic Urticarial Vasculitis
|
Familial mediterranean fever |
ggov |
wiki |
|
Familiaeres Mittelmeerfieber
|
Gout |
ggov |
|
|
Gicht
|
Uric acid |
ggov |
|
|
Harnsaeure
|
Uric acid (Hyperuricemia) |
|
|
|
Harnsaeure (Hyperurikaemie)
|
nexist familial hyperuricemic nephropathy |
|
|
|
[235]
|
Uromodulin |
|
wiki |
|
Uromodulin
|
nexist hereditary renal hypouricemia |
|
|
|
[236]
|
nexist SLC22A12 URAT1 |
|
|
|
[237]
|
Crohn s disease |
|
|
AWMF |
Crohn Erkrankung
|
Structural Glomerulus
|
Kidney (FSGS) |
|
wiki |
|
Niere (FSGS)
|
ACTN4 |
|
|
|
[238]
|
Podocin |
|
|
|
Podocin
|
TRPC6 |
|
wiki |
|
TRPC6
|
Kidney (Minimal change nephrotic syndrome) |
|
wiki |
|
Niere (MCNS Lipoidnephrose)
|
nexist Kidney (CNS Finnish type) |
|
|
|
[239]
|
Nephrin |
|
|
|
[240]
|
nexist Kidney (Diffuse mesangial sclerosis) |
|
|
|
[241]
|
Alport s syndrome |
ggov |
wiki |
|
Alport Syndrom
|
nexist COL4A3 |
|
|
|
[242]
|
nexist COL4A4 |
|
|
|
[243]
|
nexist COL4A5 |
|
|
|
[244]
|
nexist COL4A6 |
|
|
|
[245]
|
Thin membrane disease |
|
wiki |
|
Glomerulopathie (Thin Membrane Disease)
|
Hereditary nephritis with macrothrombocytopenia |
ggov |
|
|
Hereditaere Nephritis mit Makrothrombozytopenie
|
Loin pain hematuria syndrome |
|
wiki |
|
Loin Pain Hematuria Syndrome
|
Nail patella syndrome |
|
|
|
Nail Patella Syndrom
|
nexist LMX1B |
|
|
|
LMX1B
|
nexist Kidney (Hematuria benign) |
|
|
|
[246]
|
nexist Proline (Hyperprolinemia) |
|
|
|
[247]
|
nexist Epstein Syndrome |
|
|
|
[248]
|
Charcot Marie Tooth disease |
ggov |
|
AWMF |
Charcot Marie Tooth Syndrom
|
Imerslund Grasbeck s syndrome |
|
|
|
Imerslund Grasbeck Syndrom
|
Hunter s Syndrome |
|
|
|
Hunter Syndrom
|
nexist Pierson Zenker syndrome |
|
|
|
[249]
|
nexist LAMB2 Laminn beta 2 |
|
|
|
[250]
|
nexist Collagenofibrotic nephropathy |
|
|
|
[251]
|
nexist Fibronectin Glomerulopathy |
|
|
|
[252]
|
Glomerulocystic nephropathy |
ggov |
|
|
Glomerulopathie (Glomerulozystische Nephropathie)
|
PKD1 |
|
|
|
PKD1
|
HNF1beta |
|
|
|
HNF1beta
|
Wilms Nephroblastomatosis Spectrum
|
nexist Aniridia Wilms syndrome |
|
|
|
[253]
|
Beckwith Wiedemann syndrome |
ggov |
wiki |
|
Beckwith Wiedemann Syndrom
|
Denys Drash syndrome |
ggov |
wiki |
|
Denys Drash Syndrom
|
WT1 |
|
wiki |
|
WT1
|
Frasier s syndrome |
ggov |
|
|
Frasier Syndrom
|
WT1 |
|
wiki |
|
WT1
|
nexist MULIBREY dysplasia |
|
|
|
[254]
|
Sotos s syndrome |
|
wiki |
|
Sotos Syndrom
|
WAGR syndrome |
|
wiki |
|
WAGR Syndrom
|
Hemihypertrophy |
|
wiki |
|
Hemihypertrophie
|
nexist Jadassohn linear sebaceous nevus |
|
|
|
[255]
|
nexist Nipples supernumerary |
|
|
|
[256]
|
nexist Perlman s syndrome |
|
|
|
[257]
|
Functional Tubulus Proximal and pRTA2 and Amioacidurias
|
Fanconi s syndrome |
|
wiki |
|
Fanconi Syndrom
|
Fanconi Bickel syndrome |
|
|
|
Fanconi Bickel Syndrom
|
GLUT2 |
|
|
|
GLUT2
|
Familial renal glucosuria |
|
|
|
Familiaere renale Glukosurie
|
SGLT2 |
|
|
|
[258]
|
Glucose galactose malabsorption |
|
|
|
Glukose Galaktose Malabsorption
|
SGLT1 |
|
|
|
[259]
|
nexist Gluco Glycinuria |
|
|
|
[260]
|
nexist Glucosuria with renal phosphate diabetes |
|
|
|
[261]
|
nexist Aminoacidurias |
|
|
|
[262]
|
Cystinuria |
|
wiki |
|
Zystinurie |
Cystinuria |
|
nexist SLC3A1 |
|
|
|
[263]
|
nexist SLC7A9 |
|
|
|
[264]
|
nexist Hypercystinuria isolated |
|
|
|
[265]
|
nexist Dicarboxylic aminoaciduria |
|
|
|
[266]
|
nexist Hartnup s syndrome |
|
|
|
[267]
|
nexist SLC6A19 |
|
|
|
[268]
|
nexist Hyperdibasic aminoaciduria I |
|
|
|
[269]
|
Lysinuric protein intolerance |
|
wiki |
|
Lysinurische Protein Intoleranz
|
nexist Hyperhistidinuria |
|
|
|
[270]
|
nexist Iminoglycinuria |
|
|
|
[271]
|
nexist PAT1 |
|
|
|
[272]
|
nexist Alcaptonuria |
|
|
|
[273]
|
nexist Cystathioninuria |
|
|
|
[274]
|
nexist Glycinuria |
|
|
|
[275]
|
nexist Xanthinuria |
|
|
|
[276]
|
Xanthine |
|
|
|
Xanthin
|
Mitochondria (Mitochondriopathy) |
|
|
AWMF |
Mitochondrium (Mitochondriopathie)
|
nexist Cytochrome c oxidase deficiency |
|
|
|
[277]
|
Cytochrome c oxidase |
|
|
|
Cytochrome c oxidase
|
Kearns Sayre syndrome |
|
wiki |
AWMF |
Kearns Sayre Syndrom
|
Wolfram s syndrome |
|
|
|
[278]
|
nexist MERRF |
|
|
|
[279]
|
nexist NARP syndrome |
|
|
|
[280]
|
MELAS |
|
wiki |
AWMF |
MELAS
|
Leber s optic neuropathy |
|
wiki |
|
Leber optische Neuropathie
|
Leigh s syndrome |
|
|
|
Leigh Syndrom
|
Pearson s syndrome |
|
|
|
Pearson Syndrom
|
Alpers syndrome |
|
|
|
Alpers Syndrom
|
nexist Schwachmann Bodian syndrome |
|
|
|
[281]
|
Cystinosis |
|
wiki |
|
Zystinose
|
Lowe s syndrome |
|
wiki |
|
Lowe Syndrom
|
nexist Phosphatidylinositol bisphosphate phosphatase |
|
|
|
[282]
|
Fructose intolerance |
ggov |
wiki |
|
Fruktose Intoleranz
|
nexist Fructose 1 phosphate aldolase |
|
|
|
[283]
|
Tyrosinemia |
|
wiki |
|
Tyrosinaemie
|
Fumarylacetoacetate hydrolase |
|
wiki |
|
Fumarylacetoacetat Hydrolase
|
Galactosemia |
|
wiki |
|
Galaktosaemie
|
nexist Galactose 1 phosphate uridyl transferase |
|
|
|
[284]
|
Glycogenosis |
ggov |
wiki |
|
Glykogenose
|
Wilson s disease |
|
wiki |
AWMF |
Wilson Erkrankung
|
Metachromatic leukodystrophy |
|
|
AWMF |
Metachromatische Leukodystrophie
|
Osteopetrosis |
|
|
|
Osteopetrose
|
Carbonic anhydrase |
|
wiki |
|
Carboanhydrase
|
Fallot s tetralogy |
ggov |
|
|
Fallot Tetralogie
|
Functional Tubulus Na K Cl |
|
|
|
|
Tubulopathies Na K Cl |
|
Aldosterone (Pseudohypoaldosteronism) |
|
|
|
Aldosteron (Pseudohypoaldosteronismus)
|
Ion channel (Sodium ENaC) |
|
wiki |
|
Ionenkanal (Natrium ENaC)
|
Receptor (Mineralcorticoid) |
|
|
|
Rezeptoren (Mineralkortikoid)
|
Gordon s syndrome |
|
|
|
Gordon Syndrom
|
WNK1 |
|
wiki |
|
WNK1
|
WNK4 |
|
wiki |
|
WNK4
|
Adrenal gland (Hypoplasia congenital) |
|
|
|
[285]
|
Bartter s syndrome |
ggov |
wiki |
|
Bartter Syndrom
|
NKCC2 |
|
|
|
NKCC2
|
nexist ROMK |
|
|
|
[286]
|
CLC Kb |
|
|
|
CLC Kb
|
Barttin |
|
|
|
[287]
|
Gitelman s syndrome |
ggov |
wiki |
|
Gitelman Syndrom
|
nexist NCCT |
|
|
|
[288]
|
Liddle s syndrome |
|
wiki |
|
Liddle Syndrom
|
Ion channel (Sodium ENaC) |
|
wiki |
|
Ionenkanal (Natrium ENaC)
|
Dent s syndrome |
ggov |
wiki |
|
Dent Syndrom
|
CLCN5 |
|
wiki |
|
CLCN5
|
Apparent mineralocorticoid excess |
|
wiki |
|
Apparent Mineralocorticoid Excess
|
11 beta HSD2 |
|
wiki |
|
11 beta HSD2
|
Glucocorticoid remediable aldosteronism |
ggov |
wiki |
|
Glucocorticoid remediable aldosteronism
|
nexist CYP11B2 aldosterone synthase |
|
|
|
[289]
|
Adrenal gland (Hyperplasia congenital) |
|
wiki |
AWMF |
Nebenniere (Hyperplasie kongenital)
|
nexist 17 alpha Hydroxylase |
|
|
|
[290]
|
nexist 11 beta Hydroxylase |
|
|
|
[291]
|
21 hydroxylase deficiency |
ggov |
wiki |
|
21 Hydroxylase Mangel
|
Functional Tubulus Calcium/Magnesium |
|
|
|
|
Tubulopathies Calcium and Magnesium |
|
Williams syndrome |
|
|
|
Williams Syndrom
|
Idiopathic infantile hypercalcaemia |
|
|
|
Idiopathic infantile hypercalcaemia
|
Hypocalciemic hypercalciuria autosomal dominant |
|
|
|
Hypokalziaemische Hyperkalziurie ad
|
Hypocalciuric hypercalciemia benign familial |
|
|
|
Hypokalziurische Hyperkalziaemie benigne familiaere
|
CASR |
ggov |
wiki |
|
CASR
|
Alkaline Phosphatase (Hypophosphatasia) |
|
|
|
Alkalische Phosphatase (Hypophosphatasie)
|
Milk alkali syndrome |
|
wiki |
|
Milch Alkali Syndrom
|
nexist Sclerema neonatorum |
|
|
|
[292]
|
nexist Blue diaper syndrome |
|
|
|
[293]
|
Hypercalciuric nephrolithiasis with hypophosphatemia |
|
|
|
Hypercalciuric Nephrolithiasis with Hypophosphatemia
|
Hypercalciuria idiopathic |
|
|
|
Hyperkalziurie idiopathisch
|
Bartter s syndrome |
ggov |
wiki |
|
Bartter Syndrom
|
Barttin |
|
|
|
[294]
|
hereditary hypophosphatemic rickets w hypercalciuria |
|
|
|
[295]
|
nexist Pseudotumoral calcinosis |
|
|
|
[296]
|
nexist GALNT3 |
|
|
|
[297]
|
FGF23 |
ggov |
|
|
FGF23
|
nexist Hypomagnesiemia congenital primary |
|
|
|
[298]
|
Magnesium (Hypomagnesiemia) |
|
wiki |
|
Magnesium (Hypomagnesiaemie)
|
CASR |
ggov |
wiki |
|
CASR
|
TRPM6 |
|
wiki |
|
TRPM6
|
Claudin16 |
|
|
|
Claudin16
|
nexist NCCT |
|
|
|
[299]
|
NKCC2 |
|
|
|
NKCC2
|
nexist ROMK |
|
|
|
[300]
|
CLC Kb |
|
|
|
CLC Kb
|
Functional Tubulus Phosphate/cAMP
|
Hypophosphatemia X linked |
|
|
|
Hypophosphatemia X linked
|
PHEX |
|
|
|
PHEX
|
McCune Albright syndrome |
|
|
|
McCune Albright Syndrom
|
Vitamin D dependent rickets1 |
|
|
AWMF |
Vitamin D abhaengige Rachitis1
|
1 alpha hydroxylase |
|
|
|
1 alpha Hydroxylase
|
Vitamin D dependent rickets2 |
|
|
AWMF |
Vitamin D abhaengige Rachitis2
|
nexist Calcitriol resistance |
|
|
|
[301]
|
Hypophosphatemic ricketts |
|
|
AWMF |
Hypophosphataemische Rachitis
|
FGF23 |
ggov |
|
|
FGF23
|
Hypophophatemic rickets with hypercalciuria |
|
|
|
Hypophophatemic rickets with hypercalciuria
|
PTH (Pseudohypoparathyroidism) |
|
|
|
PTH (Pseudohypoparathyroidismus)
|
Pseudovitamin D deficiency rickets |
|
|
|
Pseudovitamin D deficiency rickets
|
nexist familial hypophosphatemic osteomalacia |
|
|
|
[302]
|
nexist AR rickets w craniostenosis ahbd deafness |
|
|
|
[303]
|
nexist Hypophosphatemic nonrachitic bone disease |
|
|
|
[304]
|
nexist Jansen s disease |
|
|
|
[305]
|
nexist Receptors (PTH) |
|
|
|
[306]
|
Functional Tubulus Concentration
|
Diabetes insipidus (nephrogenic) |
ggov |
wiki |
|
Diabetes insipidus (nephrogen)
|
nexist AVPR2 |
|
|
|
[307]
|
AQP2 |
|
wiki |
|
AQP2
|
Diabetes insipidus (BASKET) |
ggov |
wiki |
|
Diabetes insipidus (allg) |
Diabetes insipidus |
|
Functional Tubulus Acidosis
|
Acidosis (renal tubular) |
ggov |
wiki |
|
Azidose (renal tubulaere) |
Renal tubular acidosis |
|
nexist RTA2 proximal |
|
|
|
[308]
|
nexist NBC1 |
|
|
|
[309]
|
nexist Carboanhydrase II |
|
|
|
[310]
|
nexist RTA1 distal |
|
|
|
[311]
|
nexist AE1 |
|
|
|
[312]
|
nexist H ATPase A4 subunit |
|
|
|
[313]
|
nexist H ATPase B1 subunit |
|
|
|
[314]
|
Anemia (Sickle cell) |
|
wiki |
AWMF |
Anaemie (Sichelzellanaemie)
|
nexist Lightwood s syndrome |
|
|
|
[315]
|
nexist Butler Albright syndrome |
|
|
|
[316]
|
nexist dRTA w nerve deafness |
|
|
|
[317]
|
Familial hypercalciuric hypomagnesemia with nephrocalcinosis |
|
|
|
Familial hypercalciuric hypomagnesemia with nephrocalcinosis
|
Hypomagnesemia with hypercalciuria familiar |
|
wiki |
|
Hypomagnesiaemie mit Hyperkalziurie familiaer
|
nexist Hyperglobulinemic states |
|
|
|
[318]
|
nexist RTA3 combined |
|
|
|
[319]
|
Ehlers Danlos syndrome |
ggov |
wiki |
|
Ehlers Danlos Syndrom
|
nexist Erythrocyte (Elliptocytosis) |
|
|
|
[320]
|
Adrenal gland (Hyperplasia congenital) |
|
wiki |
AWMF |
Nebenniere (Hyperplasie kongenital)
|
nexist RTA4 hyperkalemic |
|
|
|
[321]
|
Aldosterone (Pseudohypoaldosteronism) |
|
|
|
Aldosteron (Pseudohypoaldosteronismus)
|
nexist Chloride shunt defect |
|
|
|
[322]
|
remains to be sorted
|
Kidney (Aglomerular) |
ggov |
|
|
Niere (Aglomerulaer)
|
Myoglobulinuria acute recurrent of childhood |
|
|
|
Myoglobulinuria acute recurrent of childhood
|
Aicardi Goutieres syndrome |
ggov |
|
AWMF |
Aicardi Goutieres Syndrom
|
TREX1 |
|
|
|
TREX1
|
Urinary tract (Malformation) |
|
|
|
Harnwege (Fehlbildung)
|