Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
3 |
Nephroscopy and biopsy of renal lesion |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
4 |
Nephroscopy (procedure) |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Acute kidney injury due to trauma (disorder) |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
3 |
Unroofing of cyst of kidney |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Endoscopic de-roofing of multiple cysts of kidney (procedure) |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
7 |
Acute kidney failure stage 1 |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Acute kidney failure stage 2 (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Acute kidney failure stage 3 (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Collecting duct carcinoma of kidney (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Chromophobe renal cell carcinoma |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Ischemic contracture of kidney |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
1 |
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
2 |
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
7 |
Tubulocystic renal cell carcinoma (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Papillary renal cell carcinoma (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
1 |
Postpartum acute renal failure (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Specimen of fluid from cyst of kidney (specimen) |
Specimen source topography |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
7 |
An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group. |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
4 |
A disorder of glyoxylate metabolism that can be asymptomatic or have manifestation of oxalate nephrolithiasis. This disease has a less severe course that primary hyperoxaluria type 1 or type 2, and may be silent or limited to stone formation, sometimes even improving over time. While hyperoxaluria persists in primary hyperoxaluria type 3, nephrocalcinosis and chronic kidney failure are uncommon and systemic involvement has not been reported so far. Caused by mutations in the 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1) gene located to 10q24.1. Transmission is autosomal recessive |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Irregularly contracted kidney (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Complex renal cyst (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Ischemia of kidney (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Renal hypocalciuria (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Local destruction of lesion of kidney (procedure) |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Local excision of lesion of kidney (procedure) |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Hydronephrosis due to calculus of kidney and ureter (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
5 |
Nephropathy following pre-eclampsia (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Nephropathy following eclampsia (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Renal failure following molar pregnancy (disorder) |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
2 |
Multiple renal cysts |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Multiple acquired kidney cysts (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Renal coloboma syndrome (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Percutaneous needle biopsy of kidney using ultrasonographic guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Percutaneous needle biopsy of kidney using ultrasonographic guidance (procedure) |
Procedure site - Indirect (attribute) |
False |
Kidney structure |
Inferred relationship |
Some |
3 |
Neonatal haemorrhage of kidney |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Renal hypersensitivity caused by drug |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Radionuclide imaging of kidney using technetium (99m-Tc) succimer |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
MiT family translocation renal cell carcinoma |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
A rare subtype of renal cell carcinoma, occurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Mucinous tubular and spindle cell renal carcinoma |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Radionuclide imaging of kidney using technetium (99m-Tc) pentavalent succimer for renal neoplasm |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD). |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
3 |
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Acquired magnesium-losing nephropathy |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Acquired complex renal cyst (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Hydrocalycosis |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
3 |
Acquired polycystic kidney disease |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Acquired renal cystic disease |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Single acquired kidney cyst |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Peripelvic (lymphatic) cyst |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Radionuclide imaging of kidney using technetium (99m-Tc) pentetic acid (procedure) |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Closed renal biopsy |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Plasmodium malariae malaria with nephropathy |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Renal coccidiosis |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
3 |
Syphilis of kidney |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Late syphilis of kidney |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
3 |
This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Primary renal dysplasia (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Glycogenosis with glucoaminophosphaturia |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
syndrome d'Okamoto |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
1 |
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Bilateral congenital primary hydronephrosis (disorder) |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
1 |
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
3 |
Oligomeganephronic hypoplasia of kidney |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
3 |
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
3 |
Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a Potter-like facies. The syndrome has been described in three infants (one pair of siblings and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Anomaly of fetal kidney |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
MRI guided high intensity focused ultrasound ablation of lesion of kidney |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
MRI guided high intensity focused ultrasound ablation of lesion of kidney |
Procedure site - Direct (attribute) |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Hypotonia cystinuria syndrome (disorder) |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
A form of hypotonia-cystinuria type 1 syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Ischemic contracture of kidney |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
IgA nephropathy |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Primary IgA nephropathy |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
IgA nephropathy associated with liver disease |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Familial immunoglobulin A nephropathy (disorder) |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
2 |
Bilateral congenital primary hydronephrosis (disorder) |
Finding site |
False |
Kidney structure |
Inferred relationship |
Some |
2 |
Laparoscopic transplant of kidney using robotic assistance |
Procedure site - Indirect (attribute) |
False |
Kidney structure |
Inferred relationship |
Some |
1 |
Granulomatous sarcoid nephropathy |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Infected renal cyst |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Infectious disorder of kidney |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
Infections of kidney in pregnancy |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |
A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth. |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
2 |
Recurrent kidney stone |
Finding site |
True |
Kidney structure |
Inferred relationship |
Some |
1 |