{ "id": 23932, "label": "inherited kidney disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0100191", "properties": { "synonyms": [ "genetic renal disease", "inherited kidney disease", "inherited renal disorder", "nephrogenetic disorder" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system." }, "isLeaf": false, "isRoot": false, "child_count": 26, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 6948, "label": "kidney disorder", "isLeaf": false, "isRoot": false, "parents": [ 4253 ], "type_id": 0, "properties": { "xrefs": [ "DOID:557", "EFO:0003086", "ICD9:583.81", "MEDGEN:9635", "MESH:D007674", "NCIT:C3149", "SCTID:90708001", "UMLS:C0022658" ], "synonyms": [ "disease of kidney", "disease or disorder of kidney", "disorder of kidney", "kidney disease", "kidney disease or disorder", "kidney disorder", "renal disease", "renal disorder", "nephropathy" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "A disease involving the kidney." }, "child_count": 57, "reference_id": "MONDO:0005240" } ], "children": [ { "id": 3020, "label": "familial juvenile hyperuricemic nephropathy", "isLeaf": false, "isRoot": false, "parents": [ 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060062", "MESH:C537696", "NANDO:2100014", "NANDO:2200139", "OMIMPS:162000", "SCTID:46785007", "icd11.foundation:1143722735" ], "synonyms": [ "FJHN", "familial juvenile gouty nephropathy", "familial juvenile hyperuricemic nephropathy", "familial nephropathy associated with hyperuricemia", "familial nephropathy with gout", "gouty nephropathy, familial juvenile", "juvenile gout", "juvenile gouty nephropathy", "nephropathy, familial, with gout", "tubulointerstitial kidney disease", "gouty nephropathy, familial" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ] }, "child_count": 6, "reference_id": "MONDO:0000608" }, { "id": 4449, "label": "familial nephrotic syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7058, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2590", "GARD:0027602", "MEDGEN:502251", "NCIT:C35337", "OMIMPS:256300", "SCTID:48796009", "UMLS:C3501848", "icd11.foundation:1524476844" ], "synonyms": [ "congenital nephrotic syndrome", "hereditary nephrotic syndrome" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome." }, "child_count": 36, "reference_id": "MONDO:0002350" }, { "id": 5006, "label": "hereditary renal cell carcinoma", "isLeaf": false, "isRoot": false, "parents": [ 7199, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4455", "GARD:0023326", "MEDGEN:392857", "MESH:C536851", "NCIT:C39789", "SCTID:717736007", "UMLS:C2608055" ], "synonyms": [ "hereditary renal cell cancer", "hereditary renal cell carcinoma", "hereditary renal cell carcinoma (disease)", "familial renal carcinoma", "hereditary renal carcinoma" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome." }, "child_count": 14, "reference_id": "MONDO:0003008" }, { "id": 5693, "label": "hereditary kidney oncocytoma", "isLeaf": true, "isRoot": false, "parents": [ 5694, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:6244", "MEDGEN:209307", "NCIT:C8960", "UMLS:C0879606" ], "synonyms": [ "familial renal oncocytoma", "hereditary kidney oncocytoma", "hereditary renal oncocytoma" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome." }, "child_count": 0, "reference_id": "MONDO:0003824" }, { "id": 7021, "label": "hereditary nephritis", "isLeaf": false, "isRoot": false, "parents": [ 3410, 23932 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:10305", "MESH:D009394", "SCTID:399340005", "UMLS:C0027706" ], "synonyms": [ "hereditary nephritis", "familial nephritis", "nephritis, familial" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane." }, "child_count": 14, "reference_id": "MONDO:0005334" }, { "id": 7046, "label": "inherited focal segmental glomerulosclerosis", "isLeaf": false, "isRoot": false, "parents": [ 23932, 24049 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024175", "NANDO:1200722", "NANDO:2200113", "OMIMPS:603278" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "An instance of focal segmental glomerulosclerosis that is caused by an inherited genomic modification in an individual." }, "child_count": 16, "reference_id": "MONDO:0005363" }, { "id": 8451, "label": "prune belly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18571, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060889", "GARD:0007479", "ICD10CM:Q79.4", "ICD9:756.71", "MEDGEN:18718", "MESH:D011535", "MedDRA:10051025", "NANDO:2200185", "NCIT:C85033", "NORD:1623", "OMIM:100100", "Orphanet:2970", "SCTID:5187006", "UMLS:C0033770", "icd11.foundation:1393408621" ], "synonyms": [ "Obrinsky syndrome", "Obrisnksy syndrome", "abdominal muscle deficiency syndrome", "eagle-Barret syndrome", "prune belly syndrome", "syndrome of agenesis of abdominal muscles", "triad syndrome", "PBS", "abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism", "eagle-Barrett syndrome" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes." }, "child_count": 0, "reference_id": "MONDO:0007032" }, { "id": 8840, "label": "neurohypophyseal diabetes insipidus", "isLeaf": true, "isRoot": false, "parents": [ 2903, 5314, 6550, 16543, 23932, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12388", "GARD:0016629", "MEDGEN:574999", "NANDO:2201050", "NCIT:C84933", "OMIM:125700", "Orphanet:30925", "SCTID:45369008", "UMLS:C0342394", "icd11.foundation:97299603" ], "synonyms": [ "ADH deficiency", "AVP deficiency", "Arginine vasopressin deficiency", "antidiuretic hormone deficiency", "diabetes insipidus of pituitary gland", "hereditary CDI", "hereditary neurogenic diabetes insipidus", "pituitary gland diabetes insipidus", "vasopressin deficiency", "diabetes insipidus, cranial type", "diabetes insipidus, neurohypophyseal", "diabetes insipidus, primary central", "hereditary central diabetes insipidus", "neurogenic diabetes insipidus" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." }, "child_count": 0, "reference_id": "MONDO:0007450" }, { "id": 9029, "label": "fibronectin glomerulopathy", "isLeaf": false, "isRoot": false, "parents": [ 19482, 23932 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015019", "MEDGEN:854773", "MESH:C536826", "MESH:C562900", "NANDO:2200133", "OMIMPS:137950", "Orphanet:84090", "SCTID:236535001", "UMLS:C3888104", "icd11.foundation:1877494378" ], "synonyms": [ "GFND", "fibronectin glomerulopathy", "glomerulopathy with fibronectin deposits", "GFND1", "GFND2", "glomerular nephritis, familial, with fibronectin deposits", "glomerulopathy with fibronectin deposits 1", "glomerulopathy with fibronectin deposits 2", "glomerulopathy with giant fibrillar deposits", "lobular glomerulopathy, familial" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "A hereditary kidney 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." }, "child_count": 4, "reference_id": "MONDO:0007671" }, { "id": 9629, "label": "Liddle syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 8001, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050477", "GARD:0007381", "MEDGEN:67439", "MESH:D056929", "MedDRA:10037113", "MedDRA:10052313", "NANDO:2100131", "NANDO:2200363", "NCIT:C84827", "NORD:2034", "OMIMPS:177200", "Orphanet:526", "SCTID:707747007", "UMLS:C0221043" ], "synonyms": [ "Liddle syndrome", "pseudoaldosteronism", "pseudohyperaldosteronism type 1", "LIDLS" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone." }, "child_count": 9, "reference_id": "MONDO:0008323" }, { "id": 10536, "label": "familial renal glucosuria", "isLeaf": true, "isRoot": false, "parents": [ 8001, 19091, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070613", "DOID:9432", "GARD:0007548", "ICD9:271.4", "MEDGEN:757652", "MESH:D006030", "MedDRA:10038457", "NORD:1658", "OMIM:233100", "Orphanet:69076", "SCTID:267430007", "UMLS:C3245525", "icd11.foundation:381783069" ], "synonyms": [ "Renal Glycosuria", "SGLT2 deficiency", "familial renal glucosuria", "GLYS", "Glys1", "glycosuria, renal", "renal glucosuria", "renal glycosuria" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)." }, "child_count": 0, "reference_id": "MONDO:0009297" }, { "id": 10937, "label": "nail-patella-like renal disease", "isLeaf": true, "isRoot": false, "parents": [ 23932 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000321", "ICD9:756.89", "MEDGEN:140789", "MESH:C537228", "OMIM:256020", "Orphanet:2613", "SCTID:236527004", "UMLS:C0403548" ], "synonyms": [ "Salcedo syndrome", "focal segmental glomerulosclerosis 10", "nail-patella-like renal disease", "glomerular basement Membrane disease, nail-patella syndrome type", "nail patella like renal disease" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "A severe nephropathy characterized by renal dysfunction, proteinuria, edema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency." }, "child_count": 0, "reference_id": "MONDO:0009724" }, { "id": 11171, "label": "renal tubular dysgenesis of genetic origin", "isLeaf": false, "isRoot": false, "parents": [ 17886, 20383, 23932 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016854", "MEDGEN:1826125", "OMIM:267430", "Orphanet:97369", "UMLS:C5681536", "icd11.foundation:616055520" ], "synonyms": [ "genetic renal tubular dysgenesis", "renal tubular dysgenesis of genetic origin", "RTD", "primitive renal tubule syndrome", "renal tubular dysgenesis", "renal tubular dysgenesis with choanal atresia and athelia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome." }, "child_count": 3, "reference_id": "MONDO:0009970" }, { "id": 11790, "label": "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis", "isLeaf": true, "isRoot": false, "parents": [ 5523, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111815", "GARD:0015301", "MEDGEN:333426", "MESH:C545036", "OMIM:308990", "UMLS:C1839874" ], "synonyms": [ "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis", "proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010644" }, { "id": 11831, "label": "nephrolithiasis, X-linked recessive, with renal failure", "isLeaf": true, "isRoot": false, "parents": [ 9482, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111798", "GARD:0015305", "MEDGEN:96047", "MESH:C562901", "OMIM:310468", "SCTID:236713006", "UMLS:C0403720" ], "synonyms": [ "nephrolithiasis, X-linked recessive, with renal failure", "nephrolithiasis, type i, X-linked recessive", "XRN", "nephrolithiasis 1", "nephrolithiasis, X-linked recessive, type 1", "urolithiasis, X-linked recessive, type 1" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010687" }, { "id": 13890, "label": "hypophosphatemic nephrolithiasis/osteoporosis 1", "isLeaf": true, "isRoot": false, "parents": [ 2718, 3571, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080077", "GARD:0018346", "MEDGEN:436776", "MESH:C567363", "OMIM:612286", "UMLS:C2676786" ], "synonyms": [ "hypophosphatemic nephrolithiasis/osteoporosis type 1", "nephrolithiasis/osteoporosis, hypophosphatemic, type 1", "NPHLOP1", "nephrolithiasis/osteoporosis, hypophosphatemic, 1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012850" }, { "id": 13891, "label": "hypophosphatemic nephrolithiasis/osteoporosis 2", "isLeaf": true, "isRoot": false, "parents": [ 2718, 3571, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080078", "GARD:0018347", "MEDGEN:394127", "MESH:C567362", "OMIM:612287", "UMLS:C2676782" ], "synonyms": [ "hypophosphatemic nephrolithiasis/osteoporosis type 2", "nephrolithiasis/osteoporosis, hypophosphatemic, type 2", "NPHLOP2", "nephrolithiasis/osteoporosis, hypophosphatemic, 2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012851" }, { "id": 16626, "label": "inherited renal tubular disease", "isLeaf": false, "isRoot": false, "parents": [ 20667, 23932 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020306", "MEDGEN:1826140", "Orphanet:183592", "UMLS:C5680544" ], "synonyms": [ "genetic renal tubular disease" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ] }, "child_count": 56, "reference_id": "MONDO:0015962" }, { "id": 18510, "label": "renal agenesis", "isLeaf": false, "isRoot": false, "parents": [ 20383, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14766", "GARD:0009228", "HP:0000104", "HP:0008678", "MEDGEN:154237", "NANDO:2200156", "NCIT:C99041", "OMIMPS:191830", "Orphanet:411709", "SCTID:204942005", "UMLS:C0542519", "icd11.foundation:683319223" ], "synonyms": [ "absent/small kidney", "absent/underdeveloped kidney", "renal agenesis", "renal agenesis (disease)", "renal agenesis/hypoplasia", "renal hypodysplasia/aplasia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s)." }, "child_count": 12, "reference_id": "MONDO:0018470" }, { "id": 19481, "label": "congenital anomaly of kidney and urinary tract", "isLeaf": false, "isRoot": false, "parents": [ 19507, 23932 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080205", "GARD:0019216", "MEDGEN:369894", "MESH:C566906", "OMIMPS:610805", "Orphanet:93545", "UMLS:C1968949" ], "synonyms": [ "CAKUT", "congenital anomalies of kidney and urinary tract", "congenital anomaly of kidney and urinary tract", "renal or urinary tract malformation" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." }, "child_count": 6, "reference_id": "MONDO:0019719" }, { "id": 19499, "label": "familial cystic renal disease", "isLeaf": false, "isRoot": false, "parents": [ 4553, 23932 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019228", "MEDGEN:1842297", "Orphanet:93587", "UMLS:C5680285" ], "synonyms": [ "hereditary cystic kidney disease" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome." }, "child_count": 8, "reference_id": "MONDO:0019741" }, { "id": 20768, "label": "Alsing syndrome", "isLeaf": true, "isRoot": false, "parents": [ 23932 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:444013", "MESH:C536588", "UMLS:C2931255" ], "synonyms": [ "atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion." }, "child_count": 0, "reference_id": "MONDO:0021856" }, { "id": 24056, "label": "inherited pseudohypoaldosteronism", "isLeaf": false, "isRoot": false, "parents": [ 18635, 23932 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026144" ], "synonyms": [ "hereditary pseudohypoaldosteronism" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "A form of pseudohypoaldosteronism that is characterized Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology." }, "child_count": 4, "reference_id": "MONDO:0100323" }, { "id": 25130, "label": "Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation", "isLeaf": true, "isRoot": false, "parents": [ 23932 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022486", "MEDGEN:1843117", "Orphanet:620371", "UMLS:C5680390" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0850089" }, { "id": 25654, "label": "nephrolithiasis, calcium oxalate", "isLeaf": false, "isRoot": false, "parents": [ 9482, 23932 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:318935", "OMIMPS:167030", "UMLS:C1833683" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0957318" }, { "id": 29329, "label": "inherited distal renal tubular acidosis", "isLeaf": false, "isRoot": false, "parents": [ 16574, 23932 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028168", "OMIMPS:179800" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "A form of distal renal tubular acidosis that is inherited." }, "child_count": 4, "reference_id": "MONDO:1060161" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 6948, "label": "kidney disorder" } ] }