| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Lowe syndrome |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| sclérose mésangiale diffuse avec anomalies oculaires |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| Renal dysplasia and retinal aplasia |
Is a |
False |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| Renal tubular acidosis with progressive nerve deafness |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| Bartter syndrome (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures). |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| A rare syndrome characterised by hypokalaemic metabolic alkalosis in combination with significant hypomagnesaemia and low urinary calcium excretion. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterised by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalised hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| Nephronophthisis |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia, and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia, and wide mouth). |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| Hereditary xanthinuria |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| Familial juvenile hyperuricemic nephropathy (disorder) |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| A rare disorder of magnesium transport characterised by hypomagnesaemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcaemia and obesity are absent. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
| A rare genetic renal tubular disease characterized by hypomagnesemia (due to renal magnesium wasting), hypokalemia and activation of renin production due to specific mitochondrial DNA mutations. Hypocalciuria, metabolic alkalosis, progressive chronic kidney disease as well as arterial hypertension and hypercholesterolemia have been reported. Tetany, tremor, paresthesia, muscle fatigue, chondrocalcinosis and cerebral seizures can be present. Extrarenal manifestations of mitochondrial dysfunction may not be evident in the patients. |
Is a |
True |
Hereditary nephropathy (disorder) |
Inferred relationship |
Some |
|
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]