{"Name":"Familial X-linked hypophosphatemic vitamin D refractory rickets","DiseaseID__c":"GARD:0012943","id":12943,"encodedName":"familial-x-linked-hypophosphatemic-vitamin-d-refractory-rickets","IsDeleted":false,"Disease_Name_Full__c":"Familial X-linked hypophosphatemic vitamin D refractory rickets","Xref_IDs__c":"82236004; C0733682; C85234; DOID:0050445; MEDGEN:196551; MONDO:0010619; OMIM:307800; ORPHA:89936","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010619","Disease_Description__c":"A rare hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.","GARD_Name__c":"Familial X-linked hypophosphatemic vitamin D refractory rickets","GARD_Synonym__c":"hereditary hypophosphatemic rickets, x-linked; hypophosphatemia, vitamin d-resistant rickets; hypophosphatemic rickets x-linked dominant; hypophosphatemic rickets, x-linked; hypophosphatemic rickets, x-linked dominant; hypophosphatemic rickets, x-linked dominant, x-linked dominant; hypophosphatemic vitamin d-resistant rickets; rickets, vitamin d-resistant; vitamin d-resistant rickets,  x-linked; vitamin d-resistant rickets, x-linked; x-linked dominant hypophosphatemic rickets; x-linked hereditary hypophosphatemic rickets; x-linked hypophosphatemia; xlh; xlhrd","Curated_Disease_Description_Source__c":"GARD:0012943","Curated_Disease_Description__c":"X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets). XLH is usually diagnosed in childhood. Features include bowed or bent legs, short stature, bone pain, and severe dental pain. XLH is caused by genetic changes in the PHEX gene on the X chromosome, and inheritance is X-linked dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:89936","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010619","ORPHANET_ID__c":"ORPHA:89936","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipofosfatemia ligada al cromosoma x","Spanish_Description_Source__c":"ORPHA:89936","Spanish_Description__c":"Es un trastorno renal hereditario poco frecuente de pérdida urinaria de fosfato caracterizado por hipofosfatemia, raquitismo y/u osteomalacia, así como por disminución del crecimiento.","Spanish_Disease_Name__c":"hipofosfatemia ligada al cromosoma x","Spanish_GARD_Synonym__c":"raquitismo hipofosfatémico ligado al cromosoma x; xlh","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":"X-linked hypophosphatemia (XLH) is an inherited disorder characterized by low levels of phosphate in the blood. Phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets). XLH is usually diagnosed in childhood. Features include bowed or bent legs, short stature, bone pain, and severe dental pain. XLH is caused by genetic changes in the PHEX gene on the X chromosome, and inheritance is X-linked dominant.","Curated_Disease_Description_Source__c":"GARD:0012943","GARD_Synonym__c":"hereditary hypophosphatemic rickets, x-linked; hypophosphatemia, vitamin d-resistant rickets; hypophosphatemic rickets x-linked dominant; hypophosphatemic rickets, x-linked; hypophosphatemic rickets, x-linked dominant; hypophosphatemic rickets, x-linked dominant, x-linked dominant; hypophosphatemic vitamin d-resistant rickets; rickets, vitamin d-resistant; vitamin d-resistant rickets,  x-linked; vitamin d-resistant rickets, x-linked; x-linked dominant hypophosphatemic rickets; x-linked hereditary hypophosphatemic rickets; x-linked hypophosphatemia; xlh; xlhrd","Name":"Familial X-linked hypophosphatemic vitamin D refractory rickets","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Association  for People with Vitamino-Resistant Hypophosphatemic Rachitism","Website__c":"http://www.rvrh.fr/"},{"Account_Name__c":"International XLH Alliance","Website__c":"https://xlhalliance.org/"},{"Account_Name__c":"XLH Network","Website__c":"https://xlhnetwork.org/"}],"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":"Childhood","Provided_By__c":"ORPHA:89936"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:89936"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012943","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK83985","Source__c":"Gene Review","Xref__c":"NBK83985"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0733682","Source__c":"C0733682","Xref__c":"C0733682"},{"URL__c":"https://www.omim.org/entry/307800","Source__c":"C0733682; MONDO:0010619; ORPHA:89936","Xref__c":"OMIM:307800"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=196551","Source__c":"C0733682","Xref__c":"MEDGEN:196551"},{"URL__c":"https://www.orpha.net/en/disease/detail/89936","Source__c":"C0733682; MONDO:0010619","Xref__c":"ORPHA:89936"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050445","Source__c":"MONDO:0010619","Xref__c":"DOID:0050445"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=82236004","Source__c":"MONDO:0010619","Xref__c":"82236004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85234","Source__c":"C0733682; MONDO:0010619","Xref__c":"C85234"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010619","Source__c":"GARD:0012943","Xref__c":"MONDO:0010619"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PHEX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/phex","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","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:89936","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal increase of bone mineral density with generalized involvement of the skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005789","HPO_Synonym__c":"Diffuse, symmetrical osteosclerosis; Osteosclerosis, diffuse symmetrical","HPO_Name__c":"Generalized osteosclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","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:89936","HPO_Frequency__c":"Occasional (5-29%)","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:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025335","HPO_Name__c":"Delayed ability to stand","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006432","HPO_Name__c":"Trapezoidal distal femoral condyles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"External mechanical compression of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002176","HPO_Synonym__c":"Pressure on spinal cord","HPO_Name__c":"Spinal cord compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of dentin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010299","HPO_Synonym__c":"Abnormal dentin; Abnormality of dentin; Abnormality of dentine; Dentin anomaly","HPO_Name__c":"Abnormal dentin morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Very frequent (80-99%)","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:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007099","HPO_Synonym__c":"Arnold Chiari type I malformation; Arnold-Chiari type I malformation; Chiari I malformation","HPO_Name__c":"Chiari type I malformation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A kind of short stature in which different regions of the body are shortened to differing extents.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003498","HPO_Synonym__c":"Short stature, disproportionate","HPO_Name__c":"Disproportionate short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031936","HPO_Synonym__c":"Delayed walking","HPO_Name__c":"Delayed ability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","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:89936","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003127","HPO_Synonym__c":"Low urine calcium levels","HPO_Name__c":"Hypocalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000867","HPO_Name__c":"Secondary hyperparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased thickness (dimension along the axis of the bone) of the growth plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025369","HPO_Name__c":"Thick growth plates","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased width (breadth) of metaphyses of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003856","HPO_Synonym__c":"Broad wide portion of upper limb bone; Wide/broad metaphyses of the upper limbs","HPO_Name__c":"Upper limb metaphyseal widening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Frequent (30-79%)","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:89936","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006490","HPO_Synonym__c":"Abnormality of lower-limb metaphyses; Abnormality of the wide portion of the lower-limb bone","HPO_Name__c":"Abnormal lower-limb metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature of a long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006487","HPO_Synonym__c":"Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones","HPO_Name__c":"Bowing of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Very frequent (80-99%)","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:89936","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:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002869","HPO_Synonym__c":"Flared iliac wings","HPO_Name__c":"Flared iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","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:89936","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A bacterial infection and inflammation of the skin und subcutaneous tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100658","HPO_Synonym__c":"Bacterial infection of skin; Skin infection","HPO_Name__c":"Cellulitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","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:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000694","HPO_Synonym__c":"Ghost teeth; Shell teeth; Teeth with dentinal dysplasia; Teeth with thin dentin and large pulp chambers; Teeth with type iii dentinogenesis imperfecta","HPO_Name__c":"Odontodysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","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:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000920","HPO_Synonym__c":"Costochondral thickening; Enlarged costochondral junctions; Prominent costochondral junction; Wide costochondral junctions; Widened costochondral junction","HPO_Name__c":"Enlargement of the costochondral junction","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","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:89936","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:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the synovial membrane of the sacroiliac joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012449","HPO_Name__c":"Sacroiliac joint synovitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006640","HPO_Synonym__c":"Multiple rib fractures","HPO_Name__c":"Multiple rib fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005930","HPO_Synonym__c":"Abnormal shape of end part of bone; Abnormality of epiphysis morphology; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality","HPO_Name__c":"Abnormal epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008144","HPO_Name__c":"Flattening of the talar dome","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Uncommon (<1-4%)","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:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000897","HPO_Name__c":"Rachitic rosary","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008117","HPO_Name__c":"Shortening of the talar neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","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"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive growth of the bones of the vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008442","HPO_Name__c":"Vertebral hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000360","HPO_Synonym__c":"Ringing in ears; Ringing in the ears","HPO_Name__c":"Tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:89936","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000407","HPO_Synonym__c":"Elevated FGF23","HPO_Name__c":"Elevated circulating fibroblast growth factor 23 concentration","Feature_System__c":"Endocrine 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":["hereditary hypophosphatemic rickets, x-linked"," hypophosphatemia, vitamin d-resistant rickets"," hypophosphatemic rickets x-linked dominant"," hypophosphatemic rickets, x-linked"," hypophosphatemic rickets, x-linked dominant"," hypophosphatemic rickets, x-linked dominant, x-linked dominant"," hypophosphatemic vitamin d-resistant rickets"," rickets, vitamin d-resistant"," vitamin d-resistant rickets,  x-linked"," vitamin d-resistant rickets, x-linked"," x-linked dominant hypophosphatemic rickets"," x-linked hereditary hypophosphatemic rickets"," x-linked hypophosphatemia"," xlh"," xlhrd"]}