{"Name":"Autosomal dominant hypophosphatemic rickets","DiseaseID__c":"GARD:0016781","id":16781,"encodedName":"autosomal-dominant-hypophosphatemic-rickets","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant hypophosphatemic rickets","Xref_IDs__c":"237889002; C0342642; C123186; C562791; DOID:0050948; MEDGEN:83346; MONDO:0008660; OMIM:193100; ORPHA:89937","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0008660","Disease_Description__c":"A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.","GARD_Name__c":"Autosomal dominant hypophosphatemic rickets","GARD_Synonym__c":"adhr; autosomal dominant hereditary hypophosphatemic rickets; autosomal dominant hypophosphatemia; hereditary hypophosphatemic rickets, autosomal dominant; hypophosphatemia, autosomal dominant; hypophosphatemic rickets, autosomal dominant; vitamin d-resistant rickets, autosomal dominant","Curated_Disease_Description_Source__c":"MONDO:0008660","Curated_Disease_Description__c":"A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:89937","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008660","ORPHANET_ID__c":"ORPHA:89937","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Raquitismo hipofosfatémico autosómico dominante","Spanish_Description_Source__c":"ORPHA:89937","Spanish_Description__c":"Es un trastorno renal de pérdida de fosfato poco frecuente de origen genético caracterizado por hipofosfatemia, raquitismo y/o osteomalacia.","Spanish_Disease_Name__c":"raquitismo hipofosfatémico autosómico dominante","Spanish_GARD_Synonym__c":"adhr; hipofosfatemia autosómica dominante","Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.","Curated_Disease_Description_Source__c":"MONDO:0008660","GARD_Synonym__c":"adhr; autosomal dominant hereditary hypophosphatemic rickets; autosomal dominant hypophosphatemia; hereditary hypophosphatemic rickets, autosomal dominant; hypophosphatemia, autosomal dominant; hypophosphatemic rickets, autosomal dominant; vitamin d-resistant rickets, autosomal dominant","Name":"Autosomal dominant hypophosphatemic rickets","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:89937"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:89937"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:89937"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:89937"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/193100","Source__c":"C0342642; MONDO:0008660; ORPHA:89937","Xref__c":"OMIM:193100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83346","Source__c":"C0342642","Xref__c":"MEDGEN:83346"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237889002","Source__c":"C0342642; MONDO:0008660","Xref__c":"237889002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342642","Source__c":"C0342642","Xref__c":"C0342642"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050948","Source__c":"MONDO:0008660","Xref__c":"DOID:0050948"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562791","Source__c":"MONDO:0008660","Xref__c":"C562791"},{"URL__c":"https://www.orpha.net/en/disease/detail/89937","Source__c":"C0342642; MONDO:0008660; ORPHA:89937","Xref__c":"ORPHA:89937"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123186","Source__c":"C0342642","Xref__c":"C123186"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008660","Source__c":"GARD:0016781","Xref__c":"MONDO:0008660"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FGF23","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgf23","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002748","HPO_Synonym__c":"Weak and soft bones","HPO_Name__c":"Rickets","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002148","HPO_Synonym__c":"Hypophosphataemia; Low blood phosphate level","HPO_Name__c":"Hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased serum levels of alkaline phosphatase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003155","HPO_Synonym__c":"Elevated alkaline phosphatase; Elevated ALP; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase","HPO_Name__c":"Elevated circulating alkaline phosphatase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002749","HPO_Synonym__c":"Softening of the bones","HPO_Name__c":"Osteomalacia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002901","HPO_Synonym__c":"Hypocalcaemia; Low blood calcium levels","HPO_Name__c":"Hypocalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A partial or complete breakage of the continuity of a bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020110","HPO_Name__c":"Bone fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A pocket of pus located within a region of a tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030757","HPO_Synonym__c":"Dental abscess; Dentoalveolar abscess","HPO_Name__c":"Tooth abscess","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature affecting a long bone of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002979","HPO_Synonym__c":"Bow legs; Bow-leggedness; Bowed legs; Bowed lower limbs","HPO_Name__c":"Bowing of the legs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased excretion of phosphates in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003109","HPO_Synonym__c":"High urine phosphate levels; Phosphaturia","HPO_Name__c":"Hyperphosphaturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of vitamin D in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100512","HPO_Synonym__c":"Deficient in vitamin D; Low levels of vitamin D; Vitamin D deficiency","HPO_Name__c":"Decreased circulating vitamin D concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001891","HPO_Synonym__c":"Ferropenic; Iron-deficiency anemia","HPO_Name__c":"Iron deficiency anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89937","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Endocrine","Orthopedics","Pediatrics"],"Account":["Nephrology"]},"synonyms":["adhr"," autosomal dominant hereditary hypophosphatemic rickets"," autosomal dominant hypophosphatemia"," hereditary hypophosphatemic rickets, autosomal dominant"," hypophosphatemia, autosomal dominant"," hypophosphatemic rickets, autosomal dominant"," vitamin d-resistant rickets, autosomal dominant"]}