Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Dent's disease (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fabry's disease |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Primary hyperoxaluria (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Renal phosphaturia |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary diffuse crescentic glomerulonephritis |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary tubulointerstitial disorder |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Melnick-Fraser syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Dysmorphic sialidosis with renal involvement |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Familial renal iminoglycinuria |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Glycogenosis with glucoaminophosphaturia |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Familial hypokalemic alkalosis, Gullner type (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Infantile nephropathic cystinosis |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Lipoprotein glomerulopathy (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Familial arthrogryposis-cholestatic hepatorenal syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary nephritis |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Renal carnitine transport defect |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Nephroblastoma (disorder) |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital nephrotic syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Renal tubular dysgenesis (disorder) |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
diabète insipide néphrogénique héréditaire |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Familial amyloid nephropathy with urticaria AND deafness |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant progressive nephropathy with hypertension (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Enamel-renal syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors). |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Joubert syndrome with renal defect |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Renal dysplasia with limb defect syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Bartter syndrome type 4a (disorder) |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acrorenal mandibular syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acrorenal syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare, severe, circulatory system disease characterised 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. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperuricemia, anemia, renal failure syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Joubert syndrome with oculorenal defect (disorder) |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec). |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Crome syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Juvenile cataract, microcornea, renal glucosuria syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Perlman syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Glomerulopathy with fibronectin deposits 2 (disorder) |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Faciocardiorenal syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Multinodular goiter, cystic kidney, polydactyly syndrome |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Nephrogenic syndrome of inappropriate antidiuresis (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Thymic, renal, anal, lung dysplasia syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
SERKAL syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Schimke immuno-osseous dysplasia |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypoparathyroidism, deafness, renal disease syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Infundibulopelvic stenosis multicystic kidney syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neurofaciodigitorenal syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant tubulointerstitial kidney disease (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Thyrocerebrorenal syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spastic paraplegia, nephritis, deafness syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Aniridia, renal agenesis, psychomotor retardation syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Renal coloboma syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant tubulointerstitial disease |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Renal hepatic pancreatic dysplasia (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Familial renal cell carcinoma (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary primary clear cell renal cell carcinoma (disorder) |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant polycystic kidney disease |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Radio-renal syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
LAMB2-related infantile-onset nephrotic syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Drash syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital nephrotic syndrome with evidence of diffuse mesangial sclerosis on histology or with DNA evidence of a genetic mutation associated with diffuse mesangial sclerosis. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital nephrotic syndrome with focal glomerulosclerosis |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Galloway Mowat syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital nephrotic syndrome with evidence of an underlying congenital infection (e.g. syphilis, toxoplasmosis, rubella, hepatitis B). |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Nephrocystin 3-related Meckel-like syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cystinuria, type 1 |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mitochondrial DNA depletion syndrome hepatocerebrorenal form |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Karyomegalic interstitial nephritis |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Leigh-Syndrom mit nephrotischem Syndrom |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Holzgreve syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Thin basement membrane disease (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Polycystic kidney disease, infantile type |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Inherited renal tubule insufficiency with cholestatic jaundice |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Inherited magnesium-losing nephropathy |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Saldino-Mainzer dysplasia |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary focal and segmental glomerular lesions (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary minor glomerular abnormality |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Oligohydramnios sequence |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Non-progressive hereditary glomerulonephritis (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Lowe syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|