{"_id":"MONDO:0008763","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"657-24-9","chemical_name":"Metformin","direct_evidence":"therapeutic","mesh_chemical_id":"D008687","pubmed":"18038714","source":"CTD"},{"chemical_name":"Rosiglitazone","direct_evidence":"therapeutic","mesh_chemical_id":"D000077154","pubmed":"18038714","source":"CTD"}],"mesh":"D056769","pathway_related_to_disease":[{"inference_gene_symbol":"ALMS1","pathway_name":"Cell Cycle","react_pathway_id":"R-HSA-1640170","source":"CTD"},{"inference_gene_symbol":"ALMS1","pathway_name":"Organelle biogenesis and maintenance","react_pathway_id":"R-HSA-1852241","source":"CTD"},{"inference_gene_symbol":"ALMS1","pathway_name":"Regulation of PLK1 Activity at G2/M Transition","react_pathway_id":"R-HSA-2565942","source":"CTD"},{"inference_gene_symbol":"ALMS1","pathway_name":"Loss of Nlp from mitotic centrosomes","react_pathway_id":"R-HSA-380259","source":"CTD"},{"inference_gene_symbol":"ALMS1","pathway_name":"Recruitment of mitotic centrosome proteins and complexes","react_pathway_id":"R-HSA-380270","source":"CTD"},{"inference_gene_symbol":"ALMS1","pathway_name":"Loss of proteins required for interphase microtubule organization from the centrosome","react_pathway_id":"R-HSA-380284","source":"CTD"},{"inference_gene_symbol":"ALMS1","pathway_name":"Centrosome maturation","react_pathway_id":"R-HSA-380287","source":"CTD"},{"inference_gene_symbol":"ALMS1","pathway_name":"Mitotic G2-G2/M phases","react_pathway_id":"R-HSA-453274","source":"CTD"},{"inference_gene_symbol":"ALMS1","pathway_name":"Cilium Assembly","react_pathway_id":"R-HSA-5617833","source":"CTD"},{"inference_gene_symbol":"ALMS1","pathway_name":"Anchoring of the basal body to the plasma membrane","react_pathway_id":"R-HSA-5620912","source":"CTD"},{"inference_gene_symbol":"ALMS1","pathway_name":"G2/M Transition","react_pathway_id":"R-HSA-69275","source":"CTD"},{"inference_gene_symbol":"ALMS1","pathway_name":"Cell Cycle, Mitotic","react_pathway_id":"R-HSA-69278","source":"CTD"},{"inference_gene_symbol":"ALMS1","pathway_name":"AURKA Activation by TPX2","react_pathway_id":"R-HSA-8854518","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0050177","DOID:630","DOID:4","DOID:0050737","DOID:225","DOID:0050739"],"children":[],"def":"\"A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.\" [url:http\\://en.wikipedia.org/wiki/Alstrom_syndrome]","descendants":[],"doid":"DOID:0050473","name":"Alstrom syndrome","parents":["DOID:0050737","DOID:225"],"synonyms":{},"xrefs":{"mesh":"D056769","mim":"203800","ncit":"C84549","snomedct_us_2025_09_01":"63702009","umls_cui":"C0268425"}},"hpo":[{"clinical_course":{"biocuration":{"date":"2024-03-08","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0003577","hpo_name":"Congenital onset","numeric_freq":1.0,"original_disease_id":"OMIM:203800","pmid_refs":"PMID:34148947"},"disease_name":"Alstrom syndrome","inheritance":{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000007","hpo_name":"Autosomal recessive inheritance","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},"omim":"203800","phenotype_related_to_disease":[{"biocuration":{"date":"2017-07-13","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0001133","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000164","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0003233","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2013-06-06","name":"HPO:skoehler"},"clinical_modifier":"HP:0011010","evidence":"TAS","hpo_id":"HP:0000123","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0004322","numeric_freq":1.0,"original_disease_id":"OMIM:203800","pmid_refs":"PMID:34148947"},{"biocuration":{"date":"2012-07-19","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:0001970","original_disease_id":"OMIM:203800","pmid_refs":"PMID:21358663"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000083","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2024-03-08","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0003074","numeric_freq":1.0,"original_disease_id":"OMIM:203800","pmid_refs":"PMID:34148947"},{"biocuration":[{"date":"2010-06-18","name":"HPO:skoehler"},{"date":"2024-03-08","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0010442","original_disease_id":"OMIM:203800","pmid_refs":"PMID:34148947"},{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2024-03-08","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0000639","numeric_freq":1.0,"original_disease_id":"OMIM:203800","pmid_refs":"PMID:34148947"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000956","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000873","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2024-03-08","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0040217","numeric_freq":1.0,"original_disease_id":"OMIM:203800","pmid_refs":"PMID:34148947"},{"biocuration":{"date":"2024-03-08","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0007843","numeric_freq":1.0,"original_disease_id":"OMIM:203800","pmid_refs":"PMID:34148947"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0004438","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001763","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000831","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001644","omim_refs":"OMIM:203800","onset":"HP:0003593","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2018-10-08","name":"HPO:skoehler"},"evidence":"IEA","hpo_id":"HP:0000572","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002155","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000771","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001263","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000408","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2024-03-08","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0000407","numeric_freq":1.0,"original_disease_id":"OMIM:203800","pmid_refs":"PMID:34148947"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0005616","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002621","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000842","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000523","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002149","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001397","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001596","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002240","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000580","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000815","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000858","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000618","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0000613","numeric_freq":1.0,"original_disease_id":"OMIM:203800","pmid_refs":"PMID:34148947"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0006532","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2013-06-11","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0200120","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002910","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0005987","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000230","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002650","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002099","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002808","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000822","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001635","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000821","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000824","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2024-03-08","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0000505","numeric_freq":1.0,"original_disease_id":"OMIM:203800","pmid_refs":"PMID:34148947"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000548","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001956","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000388","omim_refs":"OMIM:203800","original_disease_id":"OMIM:203800"},{"biocuration":{"date":"2024-03-08","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":1,"freq_numerator":1,"hpo_id":"HP:0001513","numeric_freq":1.0,"original_disease_id":"OMIM:203800","pmid_refs":"PMID:34148947"}]},{"disease_name":"Alström syndrome","orphanet":"64","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002091","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002591","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002788","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002808","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002910","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002943","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0003474","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0004438","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0004469","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0004626","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0005978","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0006532","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0007722","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0008373","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0010863","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0011108","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0012622","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0025383","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0030948","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0031865","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000010","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000012","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000016","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000020","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000054","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000099","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000147","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000230","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000311","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000490","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000729","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000771","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000798","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000824","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000832","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000858","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001007","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001123","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001394","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001395","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001397","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001399","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001409","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001433","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001635","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001685","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001744","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001751","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001831","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002020","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002040","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002092","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002098","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002213","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002240","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002292","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002311","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002925","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003774","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0005616","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0006510","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0007010","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0007787","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0008625","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0008734","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0009381","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0009804","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0009894","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0010790","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0011073","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0011510","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012041","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012115","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012786","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012860","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0025335","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0025336","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0025488","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0025496","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0030348","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0031507","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0031936","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100518","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0410019","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0001251","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0001733","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0002360","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0002480","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0003326","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0010465","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0011147","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0012569","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0100543","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000388","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000408","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000548","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000556","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000572","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000618","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000639","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000855","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001513","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002155","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003077","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0004322","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000009","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000518","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000543","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000613","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000815","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000822","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000842","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000956","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001328","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001644","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001763","orphanet_refs":"orphanet:64"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001956","orphanet_refs":"orphanet:64"}]}],"mondo":{"ancestors":["MONDO:7770007","MONDO:0005308","MONDO:0000429","MONDO:0700096","MONDO:7770009","MONDO:0000001","MONDO:7770011","MONDO:0006025","MONDO:0003847","MONDO:7770006","MONDO:0002254","MONDO:7770008"],"curated_content_resource":{"https":["https://search.clinicalgenome.org/kb/conditions/MONDO:0008763"]},"definition":"A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. [Orphanet:64]","disease_has_feature":{"hp":["HP:0000556"]},"disease_has_major_feature":{"hp":["HP:0001644"]},"excluded_subClassOf":{"mondo":["MONDO:0005015"]},"has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/428"]},"label":"Alstrom syndrome","mondo":"MONDO:0008763","parents":["MONDO:0002254","MONDO:0005308","MONDO:0006025"],"synonym":{"exact":["ALMS","ALSS","Alstrom syndrome","Alstrom's syndrome","Alström Syndrome","Alström syndrome"]},"xrefs":{"doid":["DOID:0050473"],"gard":["0005787"],"icd9":["759.89"],"meddra":["10068783"],"medgen":["78675"],"mesh":["D056769"],"ncit":["C84549"],"nord":["757"],"omim":["203800"],"orphanet":["64"],"sctid":["63702009"],"umls":["C0268425"]}},"original_id":"orphanet:64","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"D056769","preferred":"D056769"},"nci":{"preferred":"C84549"},"snomed":{"non-preferred":"63702009","preferred":"63702009"},"umls":"C0268425"}}