{"_id":"MONDO:0007937","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"37517-28-5","chemical_name":"Amikacin","direct_evidence":"marker/mechanism","mesh_chemical_id":"D000583","pubmed":"19884751","source":"CTD"},{"cas_registry_number":"2609-46-3","chemical_name":"Amiloride","direct_evidence":"therapeutic","mesh_chemical_id":"D000584","pubmed":"10669191","source":"CTD"},{"cas_registry_number":"1397-89-3","chemical_name":"Amphotericin 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Sulfate","direct_evidence":"therapeutic","mesh_chemical_id":"D008278","pubmed":"3082455","source":"CTD"},{"cas_registry_number":"109581-93-3","chemical_name":"Tacrolimus","direct_evidence":"marker/mechanism","mesh_chemical_id":"D016559","pubmed":"7532090","source":"CTD"},{"chemical_name":"Thiazides","direct_evidence":"marker/mechanism","mesh_chemical_id":"D049971","pubmed":"3739851","source":"CTD"}],"mesh":"C537152","pathway_related_to_disease":[{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04022","pathway_name":"cGMP-PKG signaling pathway","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04024","pathway_name":"cAMP signaling pathway","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04260","pathway_name":"Cardiac muscle contraction","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04261","pathway_name":"Adrenergic signaling in cardiomyocytes","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04911","pathway_name":"Insulin secretion","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04918","pathway_name":"Thyroid hormone synthesis","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04919","pathway_name":"Thyroid hormone signaling pathway","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04960","pathway_name":"Aldosterone-regulated sodium reabsorption","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04961","pathway_name":"Endocrine and other factor-regulated calcium reabsorption","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04964","pathway_name":"Proximal tubule bicarbonate reclamation","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04970","pathway_name":"Salivary secretion","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04972","pathway_name":"Pancreatic secretion","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04973","pathway_name":"Carbohydrate digestion and absorption","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04974","pathway_name":"Protein digestion and absorption","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04976","pathway_name":"Bile secretion","source":"CTD"},{"inference_gene_symbol":"FXYD2","kegg_pathway_id":"hsa04978","pathway_name":"Mineral absorption","source":"CTD"},{"inference_gene_symbol":"FXYD2","pathway_name":"Transmembrane transport of small molecules","react_pathway_id":"R-HSA-382551","source":"CTD"},{"inference_gene_symbol":"FXYD2","pathway_name":"Muscle contraction","react_pathway_id":"R-HSA-397014","source":"CTD"},{"inference_gene_symbol":"FXYD2","pathway_name":"Cardiac conduction","react_pathway_id":"R-HSA-5576891","source":"CTD"},{"inference_gene_symbol":"FXYD2","pathway_name":"Ion homeostasis","react_pathway_id":"R-HSA-5578775","source":"CTD"},{"inference_gene_symbol":"FXYD2","pathway_name":"Ion transport by P-type ATPases","react_pathway_id":"R-HSA-936837","source":"CTD"},{"inference_gene_symbol":"FXYD2","pathway_name":"Ion channel transport","react_pathway_id":"R-HSA-983712","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0014667","DOID:630","DOID:4","DOID:655","DOID:0060879","DOID:896"],"children":[],"def":"\"A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23.\" [url:https\\://www.ncbi.nlm.nih.gov/pubmed/11062458, url:https\\://www.ncbi.nlm.nih.gov/pubmed/3298795]","descendants":[],"doid":"DOID:0060885","name":"renal hypomagnesemia 2","parents":["DOID:0060879"],"synonyms":{"exact":["autosomal dominant primary hypomagnesemia with hypocalciuria","HOMG2"]},"xrefs":{"gard":"3350","icd10":"E83.4","mim":"154020","ordo":"34528"}},"hpo":{"disease_name":"Hypomagnesemia 2, renal","inheritance":{"biocuration":[{"date":"2012-10-17","name":"HPO:skoehler"},{"date":"2022-12-14","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant inheritance","original_disease_id":"OMIM:154020","pmid_refs":"PMID:11062458"},"omim":"154020","phenotype_related_to_disease":[{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2022-12-14","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":4,"freq_numerator":4,"hpo_id":"HP:0005567","numeric_freq":1.0,"original_disease_id":"OMIM:154020","pmid_refs":"PMID:25765846"},{"biocuration":{"date":"2017-07-13","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0003324","omim_refs":"OMIM:154020","original_disease_id":"OMIM:154020"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001250","omim_refs":"OMIM:154020","original_disease_id":"OMIM:154020"},{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2022-12-14","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":6,"freq_numerator":6,"hpo_id":"HP:0002917","numeric_freq":1.0,"original_disease_id":"OMIM:154020","pmid_refs":"PMID:25765846"},{"biocuration":{"date":"2017-07-13","name":"HPO:skoehler"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000083","omim_refs":"OMIM:154020","original_disease_id":"OMIM:154020"},{"biocuration":[{"date":"2017-07-13","name":"HPO:skoehler"},{"date":"2022-12-14","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":6,"freq_numerator":2,"hpo_id":"HP:0002900","numeric_freq":0.3333333333333333,"original_disease_id":"OMIM:154020","pmid_refs":"PMID:25765846"},{"biocuration":{"date":"2017-07-13","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0000934","omim_refs":"OMIM:154020","original_disease_id":"OMIM:154020"},{"biocuration":[{"date":"2017-07-13","name":"HPO:skoehler"},{"date":"2022-12-14","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":4,"freq_numerator":2,"hpo_id":"HP:0003127","numeric_freq":0.5,"original_disease_id":"OMIM:154020","pmid_refs":"PMID:25765846"}]},"mondo":{"ancestors":["MONDO:0004689","MONDO:7770009","MONDO:0000001","MONDO:0100191","MONDO:0017765","MONDO:7770007","MONDO:0017761","MONDO:0005240","MONDO:0021568","MONDO:7770008","MONDO:0019052","MONDO:0015962","MONDO:0005066","MONDO:0017757","MONDO:7770006","MONDO:0700096","MONDO:0003847","MONDO:0002118","MONDO:0018100","MONDO:0017625"],"curated_content_resource":{"https":["https://search.clinicalgenome.org/kb/conditions/MONDO:0007937"]},"definition":"Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. [Orphanet:34528]","has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/4026"]},"label":"renal hypomagnesemia 2","mondo":"MONDO:0007937","parents":["MONDO:0017625"],"synonym":{"exact":["familial primary hypomagnesemia caused by mutation in FXYD2","FXYD2 familial primary hypomagnesemia","FXYD2 primary hypomagnesemia","HOMG2","isolated autosomal dominant hypomagnesemia","isolated renal magnesium wasting","primary hypomagnesemia caused by mutation in FXYD2","renal hypomagnesemia type 2"],"related":["hypomagnesemia 2, renal"]},"xrefs":{"doid":["DOID:0060885"],"gard":["0003350"],"medgen":["320542"],"mesh":["C537152"],"omim":["154020"],"orphanet":["34528"],"sctid":["725393000"],"umls":["C1835171"]}},"umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"C537152","preferred":"C537152"},"snomed":{"non-preferred":"725393000"},"umls":"C1835171"}}