{"Name":"Autosomal recessive hypophosphatemic vitamin D refractory rickets","DiseaseID__c":"GARD:0017320","id":17320,"encodedName":"autosomal-recessive-hypophosphatemic-vitamin-d-refractory-rickets","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive hypophosphatemic vitamin D refractory rickets","Xref_IDs__c":"90505000; C0342643; C123187; DOID:0050949; MEDGEN:137975; MONDO:0017324; ORPHA:289176","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017324","Disease_Description__c":"A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.","GARD_Name__c":"Autosomal recessive hypophosphatemic vitamin D refractory rickets","GARD_Synonym__c":"arhr; autosomal recessive hereditary hypophosphatemic rickets; autosomal recessive hypophosphatemic rickets; hereditary hypophosphatemic rickets, autosomal recessive; hypophosphatemic rickets, autosomal recessive","Curated_Disease_Description_Source__c":"MONDO:0017324","Curated_Disease_Description__c":"A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:289176","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017324","ORPHANET_ID__c":"ORPHA:289176","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Raquitismo hipofosfatémico autosómico recesivo","Spanish_Description_Source__c":"ORPHA:289176","Spanish_Description__c":"Es un trastorno poco frecuente de pérdida de fosfato renal autosómico recesivo caracterizado por hipofosfatemia de inicio en la infancia que se manifiesta clínicamente con raquitismo y/o osteomalacia, crecimiento lento/ talla baja, dolor óseo y deformidades esqueléticas. Otros hallazgos pueden ser cansancio, debilidad muscular y fracturas óseas repetidas.","Spanish_Disease_Name__c":"raquitismo hipofosfatémico autosómico recesivo","Spanish_GARD_Synonym__c":"arhr","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, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.","Curated_Disease_Description_Source__c":"MONDO:0017324","GARD_Synonym__c":"arhr; autosomal recessive hereditary hypophosphatemic rickets; autosomal recessive hypophosphatemic rickets; hereditary hypophosphatemic rickets, autosomal recessive; hypophosphatemic rickets, autosomal recessive","Name":"Autosomal recessive hypophosphatemic vitamin D refractory rickets","estimateUsa":""}],"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":"Infancy","Provided_By__c":"ORPHA:289176"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:289176"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342643","Source__c":"C0342643","Xref__c":"C0342643"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=137975","Source__c":"C0342643","Xref__c":"MEDGEN:137975"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=90505000","Source__c":"C0342643; MONDO:0017324","Xref__c":"90505000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050949","Source__c":"MONDO:0017324","Xref__c":"DOID:0050949"},{"URL__c":"https://www.orpha.net/en/disease/detail/289176","Source__c":"C0342643; MONDO:0017324; ORPHA:289176","Xref__c":"ORPHA:289176"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123187","Source__c":"C0342643","Xref__c":"C123187"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017324","Source__c":"GARD:0017320","Xref__c":"MONDO:0017324"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DMP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ENPP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/enpp1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An altered ability of the kidneys to void urine and/or specific substances.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011036","HPO_Name__c":"Abnormality of renal excretion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","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:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010639","HPO_Synonym__c":"Elevated alkaline phosphatase of bone origin; Elevated ALP of bone origin; Increased serum bone-specific alkaline phosphatase","HPO_Name__c":"Elevated alkaline phosphatase of bone origin","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002814","HPO_Synonym__c":"Abnormality of the leg; Abnormality of the lower limb; Lower limb deformities","HPO_Name__c":"Abnormality of the lower limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100686","HPO_Synonym__c":"Inflammation of sharpey fibers","HPO_Name__c":"Enthesitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004912","HPO_Name__c":"Hypophosphatemic rickets","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the distal portion of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005096","HPO_Name__c":"Distal femoral bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","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:289176","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003472","HPO_Name__c":"Hypocalcemic tetany","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011001","HPO_Synonym__c":"Increased bone density; Increased bone mineral density; Osteosclerosis; Osteosclerosis of bones","HPO_Name__c":"Increased bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","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:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005764","HPO_Name__c":"Polyarticular arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000684","HPO_Synonym__c":"Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption","HPO_Name__c":"Delayed eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100036","HPO_Synonym__c":"Looser zones","HPO_Name__c":"Pseudo-fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002970","HPO_Synonym__c":"Genu vara; Genua vara; Outward bow-leggedness; Outward bowing at knees","HPO_Name__c":"Genu varum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Excluded (0%)","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:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100511","HPO_Synonym__c":"Abnormality of vitamin D metabolism","HPO_Name__c":"Abnormality of vitamin D metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012052","HPO_Synonym__c":"Low serum 1,25-dihydroxycholecalciferol; Low serum 1,25-dihydroxyvitamin D3","HPO_Name__c":"Low serum calcitriol","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:289176","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:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sclerosis (increased density) affecting vertebral end plates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004576","HPO_Synonym__c":"Endplate sclerosis","HPO_Name__c":"Sclerotic vertebral endplates","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A difference in length or diameter between the left and right leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100559","HPO_Synonym__c":"Left and right leg differ in length or width","HPO_Name__c":"Lower limb asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100781","HPO_Synonym__c":"Abnormality of the sacroiliac joint","HPO_Name__c":"Abnormal sacroiliac joint morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"High urine phosphate in the presence of hypophosphatemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000117","HPO_Synonym__c":"Decreased renal tubular phosphate reabsorption; Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate; Tubular phosphate reabsorption low","HPO_Name__c":"Renal phosphate wasting","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002812","HPO_Name__c":"Coxa vara","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the spinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003416","HPO_Synonym__c":"Narrow spinal canal; Spinal stenosis","HPO_Name__c":"Spinal canal stenosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of the tibia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002982","HPO_Synonym__c":"Bowed shankbone; Bowed shinbone; Bowed tibia; Bowing of the tibia","HPO_Name__c":"Tibial bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal structure or form of trabecular bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100671","HPO_Synonym__c":"Abnormal shape of spongy bone; Abnormality of bone trabeculation","HPO_Name__c":"Abnormal trabecular bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008732","HPO_Name__c":"Renal hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003020","HPO_Synonym__c":"Enlargement of the wrists","HPO_Name__c":"Enlargement of the wrists","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006463","HPO_Name__c":"Rickets of the lower limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Endocrine","Orthopedics","Pediatrics"],"Account":["Nephrology"]},"synonyms":["arhr"," autosomal recessive hereditary hypophosphatemic rickets"," autosomal recessive hypophosphatemic rickets"," hereditary hypophosphatemic rickets, autosomal recessive"," hypophosphatemic rickets, autosomal recessive"]}