11-beta-hydroxylase deficiency
17-alpha-hydroxylase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
22q11.2 deletion syndrome
3-beta-hydroxysteroid dehydrogenase deficiency
46,XX testicular disorder of sex development
48,XXXY syndrome
48,XYYY
49, XXXXY syndrome
5-alpha reductase deficiency
Aarskog syndrome
Abruzzo-Erickson syndrome
Acro-pectoro-renal field defect
Acroosteolysis dominant type
Acute intermittent porphyria
Addison's disease
Adenine phosphoribosyltransferase deficiency
Adrenocortical carcinoma
Adult-onset Still's disease
ALG8-CDG (CDG-Ih)
Allain-Babin-Demarquez syndrome
Alpha-1 antitrypsin deficiency
Alpha-thalassemia x-linked intellectual disability syndrome
Alport syndrome
Alström syndrome
Amelogenesis imperfecta nephrocalcinosis
Amyopathic dermatomyositis
Aniridia renal agenesis psychomotor retardation
Anorchia
AREDYLD
Aromatase deficiency
Arthrogryposis renal dysfunction cholestasis syndrome
Autosomal dominant distal renal tubular acidosis
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - See
Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant polycystic kidney disease
- Not a rare disease
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
Autosomal dominant tubulointerstitial kidney disease due to REN mutations
Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
Autosomal erythropoietic protoporphyria
Autosomal recessive Alport syndrome
Autosomal recessive polycystic kidney disease
Autosomal recessive pseudohypoaldosteronism type 1
Barakat syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 2
Bartter syndrome type 3
Bartter syndrome type 4
Behçet disease
Bifid nose with or without anorectal and renal anomalies
Birt-Hogg-Dube syndrome
BK-virus nephropathy
Blue diaper syndrome
Brachioskeletogenital syndrome
Branchiootorenal syndrome
Buerger disease
Campomelic dysplasia
Cat eye syndrome
Caudal regression sequence
CHARGE syndrome
Chromosome 17q11.2 deletion syndrome
Chromosome 8p23.1 deletion
Collecting duct carcinoma
Complete androgen insensitivity syndrome
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital bilateral absence of the vas deferens
Congenital erythropoietic porphyria
Congenital nephrotic syndrome Finnish type
Congenital thrombotic thrombocytopenic purpura
Cranioectodermal dysplasia
Crome syndrome
Cystinosis
Cystinuria
Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
Dense deposit disease
Dentatorubral-pallidoluysian atrophy
Denys-Drash syndrome
Dermatomyositis
Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
Diethylstilbestrol syndrome
Diffuse cutaneous systemic sclerosis
Dihydroxyadeninuria
Diphallia
Duplication of urethra
Dyschondrosteosis nephritis
EEC syndrome
Ellis-Van Creveld syndrome
Eosinophilic granulomatosis with polyangiitis
Erythropoietic uroporphyria associated with myeloid malignancy
Exstrophy of the bladder
Fabry disease
Faciocardiorenal syndrome
Familial caudal dysgenesis
Familial hyperthyroidism due to mutations in TSH receptor
Familial LCAT deficiency
Familial Mediterranean fever
Familial prostate cancer
Fanconi anemia
Fanconi Bickel syndrome
Fanconi syndrome
Feigenbaum Bergeron Richardson syndrome
Fibrillary glomerulonephritis
Fibromuscular dysplasia
- Not a rare disease
Fish-eye disease
Fitzsimmons Walson Mellor syndrome
Focal segmental glomerulosclerosis
Fowler's syndrome
Fraser syndrome
Frasier syndrome
Galactokinase deficiency
Galloway-Mowat syndrome
Genito palato cardiac syndrome
Giant cell arteritis
Gitelman syndrome
Glomerulonephritis
Glomerulopathy with fibronectin deposits 1
Glomerulopathy with fibronectin deposits 2
Glucocorticoid-remediable aldosteronism
Glycogen storage disease type 1A
Glycogen storage disease type 1B
Goodpasture syndrome
Graham Boyle Troxell syndrome
Granulomatosis with polyangiitis
Hartnup disease
Henoch-Schonlein purpura
Hepatoerythropoietic porphyria
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Hereditary coproporphyria
Hereditary fructose intolerance
Hereditary leiomyomatosis and renal cell cancer
Hereditary paraganglioma-pheochromocytoma
Hyperparathyroidism-jaw tumor syndrome
Hypocomplementemic urticarial vasculitis
Hypophosphatemic rickets
Hypospadias familial
Hypospadias-intellectual disability, Goldblatt type syndrome
Hypotelorism cleft palate hypospadias
Hypotrichosis-lymphedema-telangiectasia syndrome
Ichthyosis, mental retardation, dwarfism and renal impairment
IgA nephropathy
IMAGe syndrome
Imerslund-Grasbeck syndrome
Immunotactoid glomerulopathy
Infundibulopelvic dysgenesis
Interstitial cystitis
- Not a rare disease
Ivemark syndrome
Jeune syndrome
Joubert syndrome with oculorenal anomalies
Juberg Marsidi syndrome
Juvenile dermatomyositis
Juvenile polymyositis
Kawasaki disease
Lesch Nyhan syndrome
Liddle syndrome
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
Lowe oculocerebrorenal syndrome
Lupus nephritis
Male pseudohermaphroditism intellectual disability syndrome, Verloes type
Maturity-onset diabetes of the young, type 5 - See
Maturity-onset diabetes of the young
Meacham Winn Culler syndrome
Meckel syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome
Membranous nephropathy
Methylcobalamin deficiency cbl G type
Methylmalonic acidemia
Methylmalonic aciduria, cblA type - See
Adenosylcobalamin deficiency
Methylmalonic aciduria, cblB type - See
Adenosylcobalamin deficiency
Microscopic polyangiitis
Minimal change disease
Mixed connective tissue disease
Muckle-Wells syndrome
Multicentric carpotarsal osteolysis syndrome
Multicystic renal dysplasia, bilateral
Multisystemic smooth muscle dysfunction syndrome
MURCS association
Musculocontractural Ehlers-Danlos syndrome
Naguib-Richieri-Costa syndrome
Nail-patella syndrome
Nephrocalcinosis
Nephrogenic diabetes insipidus
Nephronophthisis
Neurofaciodigitorenal syndrome
Noonan syndrome
Noonan syndrome 1 - See
Noonan syndrome
Noonan syndrome 2 - See
Noonan syndrome
Noonan syndrome 3 - See
Noonan syndrome
Noonan syndrome 4 - See
Noonan syndrome
Noonan syndrome 5 - See
Noonan syndrome
Noonan syndrome 6 - See
Noonan syndrome
Ochoa syndrome
Oculo skeletal renal syndrome
Oligomeganephronic renal hypoplasia
Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
Orofaciodigital syndrome 1
Osteopetrosis autosomal recessive 3
PAGOD syndrome
Pallister-Hall syndrome
Papillary renal cell carcinoma
Partial androgen insensitivity syndrome
Perlman syndrome
Perrault syndrome
Persistent Müllerian duct syndrome
Pheochromocytoma
Pierson syndrome
Polycystic kidney disease
- Not a rare disease
Polycystic kidneys, severe infantile with tuberous sclerosis
Polyomavirus allograft nephropathy
Porphyria cutanea tarda
Postorgasmic illness syndrome
Preaxial deficiency, postaxial polydactyly and hypospadias
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
Primary hypomagnesemia with secondary hypocalcemia
Proud syndrome
Prune belly syndrome
Pseudohypoaldosteronism type 2
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 2
Pseudopseudohypoparathyroidism
Pseudoxanthoma elasticum
Relapsing polychondritis
Renal agenesis
Renal coloboma syndrome
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Renal dysplasia-limb defects syndrome
Renal glycosuria
Renal hypomagnesemia 2
Renal hypomagnesemia-6
Renal hypouricemia
Renal medullary carcinoma
Renal nutcracker syndrome
Renal tubular acidosis with deafness
Renal tubular dysgenesis
Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations
Retroperitoneal fibrosis
Reynolds syndrome
RHYNS syndrome
Saito Kuba Tsuruta syndrome
Salcedo syndrome
Sarcoidosis
- Not a rare disease
Schimke immunoosseous dysplasia
Schinzel Giedion syndrome
Senior Loken Syndrome
SERKAL syndrome
SeSAME syndrome
Sickle beta thalassemia
Sickle cell anemia
Simpson-Golabi-Behmel syndrome
Sirenomelia
SLC35A1-CDG (CDG-IIf)
Small cell carcinoma of the bladder
Smith-Lemli-Opitz syndrome
Split hand urinary anomalies spina bifida
Spondyloepiphyseal dysplasia tarda X-linked
Steinfeld syndrome
Sudden infant death with dysgenesis of the testes syndrome
Susac syndrome
Swyer syndrome
Takayasu arteritis
Testicular seminoma
Thin basement membrane nephropathy
- Not a rare disease
Thymic-Renal-Anal-Lung dysplasia
Torticollis keloids cryptorchidism renal dysplasia
Townes-Brocks syndrome
Trisomy 13
Trisomy 18
Tuberous sclerosis complex
Tubulointerstitial nephritis and uveitis
Tyrosinemia type 1
VACTERL association
Variegate porphyria
Von Hippel-Lindau disease
WAGR syndrome
Williams syndrome
Wilms' tumor
Wilson disease
X-linked hypophosphatemia
X-linked lissencephaly with abnormal genitalia
Xanthinuria type 1
Xanthinuria type 2
Zellweger syndrome
