{ "id": 16626, "label": "inherited renal tubular disease", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015962", "properties": { "xrefs": [ "GARD:0020306", "MEDGEN:1826140", "Orphanet:183592", "UMLS:C5680544" ], "synonyms": [ "genetic renal tubular disease" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ] }, "isLeaf": false, "isRoot": false, "child_count": 28, "parents": [ { "id": 20667, "label": "renal tubule disorder", "isLeaf": false, "isRoot": false, "parents": [ 6948 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009566", "ICD9:588.89", "MEDGEN:57484", "SCTID:95568003", "UMLS:C0151747" ], "synonyms": [ "disease of renal tubule", "disease or disorder of renal tubule", "disorder of renal tubule", "renal tubular disease", "renal tubular disorder", "renal tubule disease", "renal tubule disease or disorder" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "A disease that involves the renal tubule." }, "child_count": 4, "reference_id": "MONDO:0021568" }, { "id": 23932, "label": "inherited kidney disorder", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6948 ], "type_id": 0, "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." }, "child_count": 52, "reference_id": "MONDO:0100191" } ], "children": [ { "id": 10283, "label": "cranioectodermal dysplasia", "isLeaf": false, "isRoot": false, "parents": [ 12769, 16201, 16302, 16626, 19138 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050577", "GARD:0000359", "ICD9:756.9", "MEDGEN:1641011", "NCIT:C129305", "OMIMPS:218330", "Orphanet:1515", "SCTID:254093009", "UMLS:C4551571", "icd11.foundation:1588881145" ], "synonyms": [ "CED", "Sensenbrenner syndrome", "cranioectodermal dysplasia" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." }, "child_count": 35, "reference_id": "MONDO:0009032" }, { "id": 10317, "label": "cystinuria", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16626, 19084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9266", "GARD:0006237", "HP:0003131", "ICD10CM:E72.01", "MEDGEN:8226", "MESH:D003555", "MedDRA:10011778", "NANDO:2200489", "NCIT:C84664", "OMIM:220100", "Orphanet:214", "SCTID:85020001", "UMLS:C0010691", "icd11.foundation:1237620397" ], "synonyms": [ "cystinuria", "cystinuria (disease)", "cystinuria-lysinuria syndrome", "CSNU", "cystinuria, type A/B", "cystinuria, type B", "cystinuria, type I", "cystinuria, type I, formerly", "cystinuria, type II", "cystinuria, type II, formerly", "cystinuria, type III", "cystinuria, type III, formerly", "cystinuria, type a", "cystinuria, type non-I", "cystinuria, type non-I, formerly", "cystinuria-lysinuria" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." }, "child_count": 6, "reference_id": "MONDO:0009067" }, { "id": 10320, "label": "hereditary renal hypouricemia", "isLeaf": false, "isRoot": false, "parents": [ 16626 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009496", "ICD9:790.6", "MEDGEN:1643078", "MESH:C537757", "Orphanet:94088", "SCTID:236478009", "UMLS:C4551590", "icd11.foundation:479364233" ], "synonyms": [ "Dalmatian hypouricemia", "hypouricemia, renal", "renal hypouricemia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." }, "child_count": 3, "reference_id": "MONDO:0009071" }, { "id": 10346, "label": "nephrogenic diabetes insipidus-intracranial calcification syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16626 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000259", "MEDGEN:387791", "OMIM:221995", "Orphanet:3145", "SCTID:716200002", "UMLS:C1857297" ], "synonyms": [ "Schofer-Beetz-Bohl syndrome", "Schofer Beetz Bohl syndrome", "diabetes insipidus nephrogenic intellectual disability and intracerebral calcification", "diabetes insipidus nephrogenic mental retardation and intracerebral calcification", "diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification", "diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "This syndrome is characterized by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:0009099" }, { "id": 11107, "label": "Gitelman syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 8001, 16626 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050450", "GARD:0008547", "ICD9:275.49", "MEDGEN:75681", "MESH:D053579", "MedDRA:10062906", "NANDO:2100020", "NANDO:2200145", "NCIT:C84730", "NORD:1884", "OMIM:263800", "Orphanet:358", "SCTID:707756004", "UMLS:C0268450" ], "synonyms": [ "Gitelman syndrome", "hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria", "primary renal tubular hypokalemic hypomagnesemia with hypocalciuria", "GTLMNS", "Gitelman's syndrome", "Potassium and magnesium depletion", "familial hypokalemia-hypomagnesemia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion." }, "child_count": 0, "reference_id": "MONDO:0009904" }, { "id": 11523, "label": "nephrogenic syndrome of inappropriate antidiuresis", "isLeaf": true, "isRoot": false, "parents": [ 16626 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112121", "GARD:0010306", "MEDGEN:336877", "MESH:C564491", "OMIM:300539", "Orphanet:93606", "SCTID:723440000", "UMLS:C1845202", "icd11.foundation:808905140" ], "synonyms": [ "NSIAD", "nephrogenic syndrome of inappropriate antidiuresis", "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." }, "child_count": 0, "reference_id": "MONDO:0010356" }, { "id": 11791, "label": "oculocerebrorenal syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7019, 16626, 19084 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1056", "GARD:0003295", "ICD9:270.8", "MEDGEN:18145", "MESH:D009800", "MedDRA:10051707", "NANDO:2100028", "NANDO:2200188", "NCIT:C84940", "NORD:1379", "OMIM:309000", "Orphanet:534", "SCTID:79385002", "UMLS:C0028860", "icd11.foundation:1392767390" ], "synonyms": [ "Lowe disease", "Lowe oculo-cerebro-renal syndrome", "Lowe oculocerebrorenal syndrome", "Lowe syndrome", "Lowe syndrome, X-linked recessive", "OCR", "OCRL", "oculo-cerebro-renal dystrophy", "oculo-cerebro-renal syndrome", "oculocerebrorenal dystrophy", "oculocerebrorenal syndrome", "oculocerebrorenal syndrome of Lowe", "phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency", "Ocrl1", "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." }, "child_count": 0, "reference_id": "MONDO:0010645" }, { "id": 12324, "label": "RHYNS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16626, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009681", "MEDGEN:356371", "MESH:C537612", "OMIM:602152", "Orphanet:140976", "SCTID:723999009", "UMLS:C1865794" ], "synonyms": [ "RHYNS syndrome", "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome", "retinitis pigmentosa syndrome", "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia." }, "child_count": 0, "reference_id": "MONDO:0011202" }, { "id": 12388, "label": "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss", "isLeaf": true, "isRoot": false, "parents": [ 4081, 16626, 18488, 18954 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061166", "GARD:0015350", "MEDGEN:1732975", "OMIM:602722", "UMLS:C5399980" ], "synonyms": [ "classical distal RTA", "classical distal renal tubular acidosis", "distal renal tubular acidosis 3, with or without sensorineural hearing loss", "renal tubular acidosis, distal, 3, with or without sensorineural hearing loss", "renal tubular acidosis, distal, autosomal recessive", "type 1 RTA", "type 1 renal tubular acidosis", "RTA, distal, autosomal recessive", "RTADR", "renal tubular acidosis, autosomal recessive with preserved hearing", "renal tubular acidosis, autosomal recessive, with preserved hearing", "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss", "renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011268" }, { "id": 12527, "label": "autosomal recessive proximal renal tubular acidosis", "isLeaf": true, "isRoot": false, "parents": [ 7611, 9669, 16626, 18954 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061167", "GARD:0016826", "MEDGEN:370883", "MESH:C567038", "OMIM:604278", "Orphanet:93607", "UMLS:C1970309" ], "synonyms": [ "AR pRTA", "proximal renal tubular acidosis with ocular abnormalities and intellectual disability", "proximal renal tubular acidosis, autosomal recessive", "renal tubular acidosis, proximal, with ocular abnormalities", "RTA, proximal, autosomal recessive", "renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability", "renal tubular acidosis, proximal, with ocular abnormalities and mental retardation" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." }, "child_count": 0, "reference_id": "MONDO:0011422" }, { "id": 14044, "label": "EAST syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16626, 24045 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060484", "GARD:0010514", "MEDGEN:411243", "MESH:C557674", "OMIM:612780", "Orphanet:199343", "SCTID:721207002", "UMLS:C2748572" ], "synonyms": [ "EAST syndrome", "seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance", "seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome", "sesame syndrome", "SESAMES", "epilepsy, ataxia, sensorineural deafness, and tubulopathy", "seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance", "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance", "seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)." }, "child_count": 0, "reference_id": "MONDO:0013005" }, { "id": 14165, "label": "familial juvenile hyperuricemic nephropathy type 2", "isLeaf": true, "isRoot": false, "parents": [ 3020, 16626 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061119", "GARD:0013461", "MEDGEN:414347", "MESH:C567760", "OMIM:613092", "Orphanet:217330", "SCTID:721840000", "UMLS:C2751310" ], "synonyms": [ "ADTKD-REN", "FJHN type 2", "REN familial juvenile hyperuricemic nephropathy", "REN-associated FJHN", "REN-associated familial juvenile hyperuricemic nephropathy", "REN-associated kidney disease", "autosomal dominant tubulointerstitial kidney disease due to mutations in REN", "familial juvenile hyperuricemic nephropathy caused by mutation in REN", "familial juvenile hyperuricemic nephropathy type 2", "hyperuricemic nephropathy, familial juvenile, type 2", "tubulointerstitial kidney disease, autosomal dominant, 4", "HNFJ2", "REN-related autosomal dominant tubulointerstitial kidney disease", "early-onset hyperuricemia, Anemia, and progressive kidney failure", "hyperuricemic nephropathy, familial juvenile, 2" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)." }, "child_count": 0, "reference_id": "MONDO:0013128" }, { "id": 14489, "label": "hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 6873, 16626, 16918 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017569", "MEDGEN:462559", "OMIM:613845", "Orphanet:363694", "UMLS:C3151209" ], "synonyms": [ "HUPRA syndrome", "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis", "HUPRAS", "Hupra syndrome", "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013458" }, { "id": 16122, "label": "Bartter syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 8001, 16626 ], "type_id": 0, "properties": { "xrefs": [ "DOID:445", "GARD:0005893", "ICD10CM:E26.81", "ICD9:255.13", "MEDGEN:2172", "MESH:D001477", "MedDRA:10050839", "NANDO:2100021", "NANDO:2200146", "NCIT:C34412", "NORD:842", "OMIMPS:601678", "Orphanet:112", "SCTID:707742001", "UMLS:C0004775", "icd11.foundation:777233947" ], "synonyms": [ "Bartter disease", "Bartter's syndrome", "hypokalemic alkalosis", "renal tubular normotensive hypokalemic alkalosis with hypercalciuria", "salt-losing tubular disorder, Henle's loop type", "salt-wasting tubulopathy, Henle's loop type", "Potassium wasting", "hypokalemic alkalosis with hypercalciuria" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." }, "child_count": 18, "reference_id": "MONDO:0015231" }, { "id": 16406, "label": "Dent disease", "isLeaf": false, "isRoot": false, "parents": [ 8001, 16626 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050699", "GARD:0013105", "MEDGEN:168056", "MESH:D057973", "MedDRA:10069199", "NCIT:C123260", "NORD:1040", "OMIMPS:300009", "Orphanet:1652", "SCTID:444645005", "UMLS:C0878681", "icd11.foundation:1762998355" ], "synonyms": [ "Dent syndrome", "X-linked recessive hypercalciuric hypophosphatemic rickets", "X-linked recessive hypophosphatemic rickets", "X-linked recessive nephrolithiasis", "low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis", "renal Fanconi syndrome with nephrocalcinosis and renal stones", "Dent disease 1", "Dent disease 2", "Dents disease" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction." }, "child_count": 4, "reference_id": "MONDO:0015612" }, { "id": 16914, "label": "nephrogenic diabetes insipidus", "isLeaf": false, "isRoot": false, "parents": [ 3571, 6550, 16626 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12387", "GARD:0007178", "ICD10CM:N25.1", "ICD9:588.1", "MEDGEN:57876", "MESH:D018500", "MedDRA:10029147", "NANDO:1200742", "NANDO:2200326", "NCIT:C84919", "NORD:1497", "Orphanet:223", "SCTID:111395007", "UMLS:C0162283", "icd11.foundation:1417669099" ], "synonyms": [ "ADH resistant diabetes insipidus", "diabetes insipidus nephrogenic", "diabetes insipidus nephrogenic X-linked", "diabetes insipidus nephrogenic type 1" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 liters in children." }, "child_count": 6, "reference_id": "MONDO:0016383" }, { "id": 18047, "label": "autosomal dominant proximal renal tubular acidosis", "isLeaf": true, "isRoot": false, "parents": [ 2903, 9669, 16626, 18954 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021394", "MEDGEN:1842780", "Orphanet:314889", "UMLS:C5679902" ], "synonyms": [ "AD pRTA", "proximal renal tubular acidosis, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications." }, "child_count": 0, "reference_id": "MONDO:0017829" }, { "id": 18059, "label": "Senior-Loken syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7000, 7611, 16626 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050576", "GARD:0000322", "MEDGEN:96045", "MESH:C537580", "NANDO:1201049", "NCIT:C168588", "OMIMPS:266900", "Orphanet:3156", "UMLS:C0403553", "icd11.foundation:1975732692" ], "synonyms": [ "SLSN", "nephronophthisis with retinal dystrophy", "renal dysplasia-retinal aplasia syndrome", "Senior Loken syndrome", "renal dysplasia retinal aplasia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." }, "child_count": 27, "reference_id": "MONDO:0017842" }, { "id": 18259, "label": "familial primary hypomagnesemia", "isLeaf": false, "isRoot": false, "parents": [ 6470, 16626, 17990 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060879", "GARD:0025126", "MEDGEN:57481", "NCIT:C123263", "OMIMPS:602014", "Orphanet:34526", "SCTID:80710001", "UMLS:C0151723" ], "synonyms": [ "hypomagnesemia", "familial primary hypomagnesemia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration." }, "child_count": 15, "reference_id": "MONDO:0018100" }, { "id": 18331, "label": "mitochondrial DNA depletion syndrome, hepatocerebrorenal form", "isLeaf": true, "isRoot": false, "parents": [ 16626, 24237 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017564", "MEDGEN:1674910", "Orphanet:363534", "UMLS:C5190602" ], "synonyms": [ "mtDNA depletion syndrome, hepatocerebrorenal form" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018197" }, { "id": 18735, "label": "Jeune syndrome", "isLeaf": false, "isRoot": false, "parents": [ 7000, 16302, 16626 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050592", "GARD:0003049", "MEDGEN:78548", "MESH:C537571", "MedDRA:10057621", "NCIT:C84794", "NORD:1074", "OMIMPS:208500", "Orphanet:474", "SCTID:75049004", "UMLS:C0265275", "icd11.foundation:554018956" ], "synonyms": [ "Asphyxiating Thoracic Dystrophy", "JATD", "Jeune asphyxiating thoracic dystrophy", "Jeune syndrome", "asphyxiating thoracic dystrophy of the newborn", "short-rib thoracic dysplasia", "thoracic pelvic phalangeal dystrophy", "ATD", "Chondroectodermal dysplasia-like syndrome", "Jeune's syndrome", "asphyxiating thoracic dystrophy", "infantile thoracic dystrophy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes." }, "child_count": 72, "reference_id": "MONDO:0018770" }, { "id": 18920, "label": "nephronophthisis", "isLeaf": false, "isRoot": false, "parents": [ 7611, 16626 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12712", "GARD:0000206", "HP:0000090", "MEDGEN:146912", "NANDO:1201036", "NANDO:2100015", "NANDO:2200140", "NANDO:2200170", "NCIT:C123200", "OMIMPS:256100", "Orphanet:655", "UMLS:C0687120", "icd11.foundation:158151813" ], "synonyms": [ "medullary cystic kidney", "nephronophthisis", "nephronophthisis (disease)" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure." }, "child_count": 36, "reference_id": "MONDO:0019005" }, { "id": 19038, "label": "pseudohypoaldosteronism type 1", "isLeaf": false, "isRoot": false, "parents": [ 16626, 24056 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016545", "ICD9:275.8", "MEDGEN:82805", "NANDO:2200368", "NCIT:C123251", "OMIMPS:177735", "Orphanet:756", "SCTID:43941006", "UMLS:C0268436", "icd11.foundation:1576878036" ], "synonyms": [ "PHA type 1", "pseudohypoaldosteronism, type I", "PHA1B", "pseudohypoaldosteronism type I autosomal recessive" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration." }, "child_count": 8, "reference_id": "MONDO:0019161" }, { "id": 19224, "label": "Senior-Boichis syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16626 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016730", "MEDGEN:902988", "Orphanet:84081", "SCTID:717187000", "UMLS:C4274018" ], "synonyms": [ "Boichis disease", "nephronophthisis-hepatic fibrosis syndrome" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ], "definition": "Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child." }, "child_count": 1, "reference_id": "MONDO:0019394" }, { "id": 19702, "label": "pseudohypoparathyroidism", "isLeaf": false, "isRoot": false, "parents": [ 6470, 16198, 16626, 16764 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4184", "GARD:0010758", "ICD10CM:E20.1", "ICD9:275.49", "MEDGEN:46178", "MESH:D011547", "MedDRA:10037126", "NANDO:1200776", "NANDO:2100126", "NANDO:2200349", "NCIT:C99027", "NORD:1627", "Orphanet:97593", "SCTID:58976002", "UMLS:C0033806", "icd11.foundation:1225154856" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP)." }, "child_count": 20, "reference_id": "MONDO:0019992" }, { "id": 23411, "label": "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16626, 17989, 21292 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017943", "MEDGEN:1621949", "OMIM:617595", "Orphanet:505242", "UMLS:C4539828" ], "synonyms": [ "Cerebrorenal syndrome, Perez type", "BILAPES", "Birk-Landau-Perez syndrome" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044726" }, { "id": 23698, "label": "HELIX syndrome", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16626 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017967", "MEDGEN:1621482", "OMIM:617671", "Orphanet:528105", "UMLS:C4522164" ], "synonyms": [ "HELIX", "HELIX syndrome", "hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome", "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060564" }, { "id": 23978, "label": "inherited Fanconi renotubular syndrome", "isLeaf": false, "isRoot": false, "parents": [ 3335, 16626 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026093", "OMIMPS:134600" ], "synonyms": [ "hereditary Fanconi renotubular syndrome" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "An instance of Fanconi renotubular syndrome that is inherited." }, "child_count": 6, "reference_id": "MONDO:0100238" } ], "roots": [ { "id": 20667, "label": "renal tubule disorder" }, { "id": 23932, "label": "inherited kidney disorder" } ] }