List of rare female reproductive diseases
List of rare Kidney and Urinary Diseases[edit | edit source]
- 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
- Abderhalden Kaufmann Lignac 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 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 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
- CREST syndrome
- 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 protoporphyria
- 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
- 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 endotheliopathy, retinopathy, nephropathy, and stroke
- 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
- Methylmalonic aciduria, cblB type
- Microscopic polyangiitis
- Minimal change disease
- Mixed connective tissue disease
- Muckle-Wells syndrome
- Multicentric carpotarsal osteolysis syndrome
- Multicentric osteolysis nephropathy
- 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 Mullerian 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 Fanconi syndrome
- 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 acidosis, distal, autosomal dominant
- Renal tubular dysgenesis
- Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
- Retinal vasculopathy with cerebral leukodystrophy
- 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
- 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
NIH genetic and rare disease info[edit source]
List of rare female reproductive diseases is a rare disease.
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