TaoMedAI/RareMedData huggingface dataset:
Gene: FRA10AC1
Phenotype: Colpocephaly (HP:0030048)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: High forehead (HP:0000348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Triangular face (HP:0000325)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Pointed chin (HP:0000307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: FRA10AC1
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Gene: PDZD8
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Open mouth (HP:0000194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Cleft palate (HP:0000175)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Echolalia (HP:0010529)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Amblyopia (HP:0000646)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Malar flattening (HP:0000272)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: High palate (HP:0000218)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Astigmatism (HP:0000483)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Overlapping toe (HP:0001845)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: PDZD8
Phenotype: Myopia (HP:0000545)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Gene: SFXN4
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Tremor (HP:0001337)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Dysmetria (HP:0001310)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Hypersegmentation of neutrophil nuclei (HP:0004821)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Difficulty running (HP:0009046)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Increased mitochondrial number (HP:0040014)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: SFXN4
Phenotype: Visual impairment (HP:0000505)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 (OMIM:615578)
Gene: CYP2R1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Generalized hypotonia (HP:0001290)
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: CYP2R1
Phenotype: Motor delay (HP:0001270)
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: CYP2R1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Gait disturbance (HP:0001288)
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: CYP2R1
Phenotype: Tetany (HP:0001281)
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: CYP2R1
Phenotype: Hypotonia (HP:0001252)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
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: CYP2R1
Phenotype: Decreased circulating calcifediol concentration (HP:0012053)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
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: CYP2R1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
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: CYP2R1
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
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: CYP2R1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
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: CYP2R1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Bone pain (HP:0002653)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
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: CYP2R1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
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: CYP2R1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
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: CYP2R1
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Sparse bone trabeculae (HP:0002752)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
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: CYP2R1
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: CYP2R1
Phenotype: Rickets (HP:0002748)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
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: CYP2R1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
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: CYP2R1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
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: CYP2R1
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
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: CYP2R1
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: CYP2R1
Phenotype: Fibular bowing (HP:0010502)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Infantile onset (HP:0003593)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
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: CYP2R1
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: CYP2R1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Difficulty standing (HP:0003698)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Gene: CYP2R1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
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: CYP2R1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
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: CYP2R1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
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: CYP2R1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP2R1
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: CYP2R1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP2R1
Phenotype: Enlargement of the ankles (HP:0003029)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)