{"orpha":93160,"name":"Hypocalcemic vitamin D-resistant rickets","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HVDRR","Hereditary vitamin D-resistant rickets","VDDR II","VDRR II","Vitamin D-dependent rickets type II","Vitamin D-resistant rickets type II"],"definition":"A rare genetic, disorder of vitamin D metabolism characterized by hypocalcemia, severe rickets and in many cases alopecia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93160/","orphanet_url":"https://www.orpha.net/en/disease/detail/93160","names":{"fr":{"name":"Rachitisme hypocalcémique résistant à la vitamine D","synonyms":["HVDRR","Rachitisme héréditaire résistant à la vitamine D","Rachitisme résistant à la vitamine D de type II","Rachitisme vitamine D-dépendant de type II","VDDR II","VDRR II"],"definition":"Trouble rare du métabolisme de la vitamine D d'origine génétique caractérisé par une hypocalcémie sévère entraînant une ostéomalacie et des déformations osseuses rachitiques, ainsi que par une hypophosphatémie modérée."},"de":{"name":"Rachitis, hypokalzämische, Vitamin D-resistente","synonyms":["HVDRR","Rachitis, Vitamin D-abhängige, Typ II","Rachitis, Vitamin D-resistente, Typ II","VDDR II","VDRR II","Vitamin D-resistente Rachitis, hereditäre"],"definition":"Eine seltene genetische Störung des Vitamin-D-Stoffwechsels, die durch Hypokalzämie, schwere Rachitis und in vielen Fällen durch Alopezie gekennzeichnet ist."},"es":{"name":"Raquitismo hipocalcémico resistente a la vitamina D","synonyms":["HVDRR","Raquitismo dependiente de vitamina D tipo II","Raquitismo hereditario resistente a la vitamina D","Raquitismo resistente a la vitamina D tipo II","VDDR II","VDRR II"],"definition":"Es un trastorno genético del metabolismo de la vitamina D poco frecuente caracterizado por hipocalcemia, raquitismo grave y en muchos casos alopecia."},"it":{"name":"Rachitismo ipocalcemico resistente alla vitamina D","synonyms":["Rachitismo dipendente dalla vitamina D, tipo II","Rachitismo ereditario resistente alla vitamina D","Rachitismo resistente alla vitamina D, tipo II","VDDR II","VDRR II","HVDRR"]},"nl":{"name":"Hypocalciëmische vitamine D-resistente rachitis","synonyms":["Erfelijke vitamine D-resistente rachitis","HVDRR","VDDR II","VDRR II","Vitamine D-afhankelijke rachitis type II","Vitamine D-resistente rachitis type II"],"definition":"Een zeldzame, genetische stoornis van metabolisme van vitamine D, gekenmerkt door hypocalciëmie, ernstige rachitis, en in vele gevallen alopecie."},"pt":{"name":"Raquitismo hipocalcémico vitamina D-resistente","synonyms":["Raquitismo vitamina D-resistente, tipo II"],"definition":"Doença genética rara do metabolismo da vitamina D, caracterizada por hipocalcemia, raquitismo grave e, em muitos casos, alopecia."},"pl":{"name":"Krzywica hipokalcemiczna oporna na witaminę D","synonyms":["Dziedziczna krzywica oporna na witaminę D","HVDRR","Krzywica oporna na witaminę D typu II","Krzywica zależna od witaminy D typu II","VDDR II","VDRR II"],"definition":"Rzadkie, genetycznie uwarunkowane zaburzenie metabolizmu witaminy D, charakteryzujące się hipokalcemią, ciężką krzywicą i łysieniem (w większości przypadków)."},"cs":{"name":"Hypokalcemická vitamin D rezistentní křivice/rachitida","synonyms":["HVDRR","VDDR II","VDRR II","Dědičná vitamin D rezistentní křivice/rachitida","Vitamin D dependentní křivice/rachitida, typ II","Vitamin D rezistentní křivice/rachitida, typ II"]},"uk":{"name":"Гіпокальціємічний вітамін D-резистентний рахіт","synonyms":["Спадковий рахіт, стійкий до вітаміну D","HVDRR","VDDR II","VDRR II","Вітамін D-залежний рахіт II типу","Рахіт II типу, резистентний до вітаміну D"],"definition":"A rare genetic, disorder of vitamin D metabolism characterized by hypocalcemia, severe rickets and in many cases alopecia."},"zh":{"name":"低血钙性抗维生素D佝偻病","synonyms":["遗传性抗维生素D佝偻病"],"definition":"低血钙维生素D抵抗性佝偻病（HVDRR）是一种维生素D作用紊乱的遗传性疾病，其特征是低钙血症、严重佝偻病和脱发。"},"tr":{"name":"Hipokalsemik D vitaminine dirençli raşitizm","synonyms":["HVDRR","VDDR II","VDRR II","D vitaminine bağımlı raşitizm tip II","D vitaminine dirençli raşitizm tip II","Kalıtsal D vitaminine dirençli raşitizm"]}},"xrefs":[{"source":"OMIM","code":"277440","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600785","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619073","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C63.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2041886796"},{"source":"MONDO","code":"0019642","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3536983","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":289103,"name":"Hypocalcemic rickets","classifications":[147,156,193,199]}],"children":[],"genes":[{"symbol":"VDR","name":"vitamin D receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9284761[PMID]","hgnc":"12679","ensembl":"ENSG00000111424","omim":"601769","loci":["12q13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003330","label":"Abnormal bone structure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000843","label":"Hyperparathyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002148","label":"Hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002749","label":"Osteomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100670","label":"Rough bone trabeculation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009124","label":"Abnormal adipose tissue morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}