{"Name":"Vitamin D-dependent rickets, type 1","DiseaseID__c":"GARD:0017319","id":17319,"encodedName":"vitamin-d-dependent-rickets-type-1","IsDeleted":false,"Disease_Name_Full__c":"Vitamin D-dependent rickets, type 1","Xref_IDs__c":"67049004; C0268689; C131073; C562688; MEDGEN:124344; MONDO:0009924; ORPHA:289157","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009924","Disease_Description__c":"A rare, genetic disorder of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.","GARD_Name__c":"Vitamin D-dependent rickets, type 1","GARD_Synonym__c":"1 alpha-hydroxylase deficiency; 1-alpha-hydroxylase deficiency; 25-hydroxycholecalciferol-1-hydroxylase deficiency; calcidiol 1-monooxygenase defect; hypocalcemic vitamin d-dependent rickets; pddr - pseudovitamin d deficiency rickets; pddri; pseudo vitamin-d deficient rickets; pseudo-vitamin-d-deficient rickets; pseudodeficiency rickets; pseudovitamin d deficiency rickets; pseudovitamin d-deficient rickets; pseudovitamin d-resistant rickets; selective 1-alpha, 25-hydroxyvitamin d3 deficiency; vdd1; vddi; vddr i - vitamin d-dependent rickets type i; vddr-i; vddr1; vitamin d 1 alpha-hydroxylase deficiency; vitamin d dependency, type 1; vitamin d dependent rickets type i; vitamin d-dependency type i; vitamin d-dependent rickets type 1; vitamin d-dependent rickets type i; vitamin d-dependent rickets, type i","Curated_Disease_Description_Source__c":"ORPHA:289157","Curated_Disease_Description__c":"Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form.  The signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.  Hair loss (alopecia) can occur in VDDR2A, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.  In vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. An early sign in all types of the condition is low levels of the mineral calcium (hypocalcemia), which is essential for the normal formation of bones and teeth. Affected individuals also develop high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels of a mineral called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals with VDDR2A and VDDR2B have abnormally high levels.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:289157","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009924","ORPHANET_ID__c":"ORPHA:289157","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Raquitismo hipocalcémico dependiente de vitamina d","Spanish_Description_Source__c":"ORPHA:289157","Spanish_Description__c":"Es un trastorno poco frecuente del metabolismo de la vitamina D de origen genético caracterizado por hipocalcemia grave que conduce a osteomalacia y deformaciones óseas raquíticas, e hipofosfatemia moderada.","Spanish_Disease_Name__c":"raquitismo hipocalcémico dependiente de vitamina d","Spanish_GARD_Synonym__c":"deficiencia de 1-alfa-hidroxilasa; dependencia de vitamina d tipo 1; pddri; raquitismo dependiente de vitamina d tipo i; raquitismo por deficiencia de pseudovitamina d; vddi; vddr-i","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":"Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form.  The signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.  Hair loss (alopecia) can occur in VDDR2A, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.  In vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. An early sign in all types of the condition is low levels of the mineral calcium (hypocalcemia), which is essential for the normal formation of bones and teeth. Affected individuals also develop high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels of a mineral called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals with VDDR2A and VDDR2B have abnormally high levels.","Curated_Disease_Description_Source__c":"ORPHA:289157","GARD_Synonym__c":"1 alpha-hydroxylase deficiency; 1-alpha-hydroxylase deficiency; 25-hydroxycholecalciferol-1-hydroxylase deficiency; calcidiol 1-monooxygenase defect; hypocalcemic vitamin d-dependent rickets; pddr - pseudovitamin d deficiency rickets; pddri; pseudo vitamin-d deficient rickets; pseudo-vitamin-d-deficient rickets; pseudodeficiency rickets; pseudovitamin d deficiency rickets; pseudovitamin d-deficient rickets; pseudovitamin d-resistant rickets; selective 1-alpha, 25-hydroxyvitamin d3 deficiency; vdd1; vddi; vddr i - vitamin d-dependent rickets type i; vddr-i; vddr1; vitamin d 1 alpha-hydroxylase deficiency; vitamin d dependency, type 1; vitamin d dependent rickets type i; vitamin d-dependency type i; vitamin d-dependent rickets type 1; vitamin d-dependent rickets type i; vitamin d-dependent rickets, type i","Name":"Vitamin D-dependent rickets, type 1","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"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":"Neonatal","Provided_By__c":"ORPHA:289157"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:289157"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=124344","Source__c":"C0268689","Xref__c":"MEDGEN:124344"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131073","Source__c":"C0268689; MONDO:0009924","Xref__c":"C131073"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268689","Source__c":"C0268689","Xref__c":"C0268689"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=67049004","Source__c":"C0268689; MONDO:0009924","Xref__c":"67049004"},{"URL__c":"https://www.orpha.net/en/disease/detail/289157","Source__c":"C0268689; MONDO:0009924; ORPHA:289157","Xref__c":"ORPHA:289157"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562688","Source__c":"MONDO:0009924","Xref__c":"C562688"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009924","Source__c":"GARD:0017319","Xref__c":"MONDO:0009924"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CYP27B1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cyp27b1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CYP2R1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cyp2r1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","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:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bowing (abnormal curvature) of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002980","HPO_Synonym__c":"Bowed femur; Bowed femura; Bowed femurs; Bowed thighbone","HPO_Name__c":"Femoral bowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Malformation of the rib cage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000886","HPO_Synonym__c":"Deformed rib cage","HPO_Name__c":"Deformed rib cage","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002663","HPO_Synonym__c":"Delayed epiphyseal maturation; Delayed opacification of the epiphyses; Epiphyseal ossification delay","HPO_Name__c":"Delayed epiphyseal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","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:289157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","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:289157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","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:289157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","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:289157","HPO_Frequency__c":"Always (100%)","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:289157","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:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003029","HPO_Synonym__c":"Enlargement of the ankles","HPO_Name__c":"Enlargement of the ankles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slow or limited growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008897","HPO_Synonym__c":"Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure","HPO_Name__c":"Postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","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:289157","HPO_Frequency__c":"Frequent (30-79%)","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:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of all types of amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002909","HPO_Synonym__c":"Generalized nonspecific aminoaciduria","HPO_Name__c":"Generalized aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010537","HPO_Synonym__c":"Broad cranial sutures; Diastasis of cranial sutures; Large cranial suture; open cranial sutures; Persistent open cranial sutures; Sutural diastasis; Widened cranial sutures","HPO_Name__c":"Wide cranial sutures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thinning of the cortical region of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002753","HPO_Synonym__c":"Thin cortices","HPO_Name__c":"Thin bony cortex","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","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:289157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A thrusting or bulging out of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001538","HPO_Synonym__c":"Abdominal protuberance; Belly sticks out; Extended belly","HPO_Name__c":"Protuberant abdomen","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","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:289157","HPO_Frequency__c":"Very frequent (80-99%)","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:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001281","HPO_Synonym__c":"Intermittent involuntary muscle spasm","HPO_Name__c":"Tetany","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002199","HPO_Synonym__c":"Low calcium seizures; Seizures due to hypocalcemia","HPO_Name__c":"Hypocalcemic seizures","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001931","HPO_Synonym__c":"Hypochromic anemia","HPO_Name__c":"Hypochromic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Frequent (30-79%)","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:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increased concentration of parathyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003165","HPO_Synonym__c":"Elevated circulating PTH level; Elevated serum parathyroid hormone; Elevated serum parathyroid hormone level; Elevated serum pth; Increased serum parathyroid hormone","HPO_Name__c":"Elevated circulating parathyroid hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002752","HPO_Name__c":"Sparse bone trabeculae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003106","HPO_Synonym__c":"Subperiosteal erosions","HPO_Name__c":"Subperiosteal bone resorption","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","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:289157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002659","HPO_Synonym__c":"Abnormal susceptibility to fractures; Bone fragility; Frequent broken bones; Increased bone fragility; Increased susceptibility to fractures; Increased tendency to fractures","HPO_Name__c":"Increased susceptibility to fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Always (100%)","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:289157","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:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced convexity of the occiput (posterior part of skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005469","HPO_Synonym__c":"Flat posterior cranium; Posterior flattening of the skull","HPO_Name__c":"Flat occiput","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Always (100%)","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:289157","HPO_Frequency__c":"Occasional (5-29%)","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:289157","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006297","HPO_Synonym__c":"Dental enamel hypoplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Underdeveloped teeth enamel","HPO_Name__c":"Enamel hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:289157","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005042","HPO_Name__c":"Irregular, rachitic-like metaphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Endocrine","Orthopedics","Pediatrics"]},"synonyms":["1 alpha-hydroxylase deficiency"," 1-alpha-hydroxylase deficiency"," 25-hydroxycholecalciferol-1-hydroxylase deficiency"," calcidiol 1-monooxygenase defect"," hypocalcemic vitamin d-dependent rickets"," pddr - pseudovitamin d deficiency rickets"," pddri"," pseudo vitamin-d deficient rickets"," pseudo-vitamin-d-deficient rickets"," pseudodeficiency rickets"," pseudovitamin d deficiency rickets"," pseudovitamin d-deficient rickets"," pseudovitamin d-resistant rickets"," selective 1-alpha, 25-hydroxyvitamin d3 deficiency"," vdd1"," vddi"," vddr i - vitamin d-dependent rickets type i"," vddr-i"," vddr1"," vitamin d 1 alpha-hydroxylase deficiency"," vitamin d dependency, type 1"," vitamin d dependent rickets type i"," vitamin d-dependency type i"," vitamin d-dependent rickets type 1"," vitamin d-dependent rickets type i"," vitamin d-dependent rickets, type i"]}