TaoMedAI/RareMedData huggingface dataset:
Gene: VDR
Phenotype: Bone cyst (HP:0012062)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Joint dislocation (HP:0001373)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Bone pain (HP:0002653)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Bone pain (HP:0002653)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Scoliosis (HP:0002650)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Osteolysis (HP:0002797)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Sparse bone trabeculae (HP:0002752)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Rickets (HP:0002748)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Osteomalacia (HP:0002749)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Abnormal bone structure (HP:0003330)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Frontal bossing (HP:0002007)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Fibular bowing (HP:0010502)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Infantile onset (HP:0003593)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Alopecia universalis (HP:0002289)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Difficulty standing (HP:0003698)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Neonatal onset (HP:0003623)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Carious teeth (HP:0000670)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Short stature (HP:0004322)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Enlargement of the ankles (HP:0003029)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Bulging epiphyses (HP:0003013)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Enlargement of the wrists (HP:0003020)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Irritability (HP:0000737)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Abnormal adipose tissue morphology (HP:0009124)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Subperiosteal bone resorption (HP:0003106)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Bulging of the costochondral junction (HP:0000893)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Deformed rib cage (HP:0000886)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Secondary hyperparathyroidism (HP:0000867)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Epicanthus (HP:0000286)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Alopecia (HP:0001596)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: High serum calcitriol (HP:0031415)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Genu valgum (HP:0002857)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Growth delay (HP:0001510)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Tibial bowing (HP:0002982)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Femoral bowing (HP:0002980)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Genu varum (HP:0002970)
Associated disease: HVDRR; Vitamin D-resistant rickets type II; VDRR II; VDDR II; Hereditary vitamin D-resistant rickets; Vitamin D-dependent rickets type II; Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
Gene: VDR
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Flat occiput (HP:0005469)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Gene: VDR
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VDR
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VDR
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VEGFC
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: LYMPHATIC MALFORMATION 4 (OMIM:615907)
Gene: VEGFC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHATIC MALFORMATION 4 (OMIM:615907)
Gene: VEGFC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Toenail dysplasia (HP:0100797)
Associated disease: LYMPHATIC MALFORMATION 4 (OMIM:615907)
Gene: VEGFC
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHATIC MALFORMATION 4 (OMIM:615907)
Gene: VEGFC
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: LYMPHATIC MALFORMATION 4 (OMIM:615907)
Gene: VEGFC
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHATIC MALFORMATION 4 (OMIM:615907)
Gene: VEGFC
Phenotype: Pedal edema (HP:0010741)
Associated disease: LYMPHATIC MALFORMATION 4 (OMIM:615907)
Gene: VEGFC
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Childhood onset (HP:0011463)
Associated disease: LYMPHATIC MALFORMATION 4 (OMIM:615907)
Gene: VEGFC
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: LYMPHATIC MALFORMATION 4 (OMIM:615907)
Gene: VEGFC
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: VEGFC
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)