TaoMedAI/RareMedData huggingface dataset:
Gene: CYP27B1
Phenotype: Low serum calcitriol (HP:0012052)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Decreased circulating calcifediol concentration (HP:0012053)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Bone pain (HP:0002653)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Bone pain (HP:0002653)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Sparse bone trabeculae (HP:0002752)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Sparse bone trabeculae (HP:0002752)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Rickets (HP:0002748)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Rickets (HP:0002748)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Osteomalacia (HP:0002749)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Wide cranial sutures (HP:0010537)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Fibular bowing (HP:0010502)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Infantile onset (HP:0003593)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Elevated alkaline phosphatase of bone origin (HP:0010639)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Difficulty standing (HP:0003698)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Hypochromic anemia (HP:0001931)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Short stature (HP:0004322)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Enlargement of the ankles (HP:0003029)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Enlargement of the ankles (HP:0003029)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Bulging epiphyses (HP:0003013)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Enlargement of the wrists (HP:0003020)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Enlargement of the wrists (HP:0003020)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Irritability (HP:0000737)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Irritability (HP:0000737)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Childhood onset (HP:0011463)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Abnormal blood chloride concentration (HP:0011422)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Subperiosteal bone resorption (HP:0003106)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Subperiosteal bone resorption (HP:0003106)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Enlargement of the costochondral junction (HP:0000920)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Enlargement of the costochondral junction (HP:0000920)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Hypocalciuria (HP:0003127)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Bulging of the costochondral junction (HP:0000893)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Deformed rib cage (HP:0000886)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Deformed rib cage (HP:0000886)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Secondary hyperparathyroidism (HP:0000867)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Secondary hyperparathyroidism (HP:0000867)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Rachitic rosary (HP:0000897)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Rachitic rosary (HP:0000897)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Irregular, rachitic-like metaphyses (HP:0005042)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Growth delay (HP:0001510)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Ketonuria (HP:0002919)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)