TaoMedAI/RareMedData huggingface dataset:
Gene: TNFRSF11B
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: TNFRSF11B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Calcification of cartilage (HP:0100593)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: TNFRSF11B
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Infantile onset (HP:0003593)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Synovitis (HP:0100769)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: TNFRSF11B
Phenotype: Increased urine deoxypyridinoline level (HP:0033355)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Progressive (HP:0003676)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Macular scar (HP:0200056)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Fever (HP:0001945)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: TNFRSF11B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Increased inflammatory response (HP:0012649)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: TNFRSF11B
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Short stature (HP:0004322)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Short stature (HP:0004322)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Hydroxyprolinuria (HP:0003080)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: TNFRSF11B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Short humerus (HP:0005792)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Elevated serum acid phosphatase (HP:0003148)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Hypertension (HP:0000822)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: TNFRSF11B
Phenotype: Hydroxyprolinemia (HP:0003260)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Osteopenia (HP:0000938)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: TNFRSF11B
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: TNFRSF11B
Phenotype: Lateral femoral bowing (HP:0005090)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Arthralgia (HP:0002829)
Associated disease: Hereditary articular chondrocalcinosis; Hereditary CC; Familial calcium pyrophosphate deposition; Familial articular chondrocalcinosis; Familial CC; Hereditary calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CPPD (ORPHA:1416)
Gene: TNFRSF11B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Kyphosis (HP:0002808)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Retinopathy (HP:0000488)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: OPHN1
Phenotype: Poor speech (HP:0002465)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Ataxia (HP:0001251)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Small scrotum (HP:0000046)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Micropenis (HP:0000054)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Intention tremor (HP:0002080)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)
Gene: OPHN1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Postural instability (HP:0002172)
Associated disease: Oligophrenin-1 syndrome; OPHN1 syndrome; X-linked intellectual disability-cerebellar hypoplasia syndrome (ORPHA:137831)
Gene: OPHN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (OMIM:300486)