TaoMedAI/RareMedData huggingface dataset:
Gene: DLK1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Coat hanger sign of ribs (HP:0006665)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: DLK1
Phenotype: Coat hanger sign of ribs (HP:0006665)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Coat hanger sign of ribs (HP:0006665)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Small nail (HP:0001792)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Short neck (HP:0000470)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Short foot (HP:0001773)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Short foot (HP:0001773)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: DLK1
Phenotype: Short foot (HP:0001773)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Prominent calcaneus (HP:0012428)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Wide nose (HP:0000445)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Wide nose (HP:0000445)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Wide nose (HP:0000445)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: DLK1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Esotropia (HP:0000565)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: FBP2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING (OMIM:619864)
Gene: FBP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING (OMIM:619864)
Gene: FBP2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING (OMIM:619864)
Gene: FBP2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING (OMIM:619864)
Gene: FBP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING (OMIM:619864)
Gene: FBP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING (OMIM:619864)
Gene: FBP2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING (OMIM:619864)
Gene: FBP2
Phenotype: Tube feeding (HP:0033454)
Associated disease: LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING (OMIM:619864)
Gene: FBP2
Phenotype: Irritability (HP:0000737)
Associated disease: LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING (OMIM:619864)
Gene: TNFRSF11A
Phenotype: Fragile teeth (HP:0025124)
Associated disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Gene: TNFRSF11A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Long-tract sign (HP:0002423)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Motor delay (HP:0001270)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Brain stem compression (HP:0002512)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Death in childhood (HP:0003819)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Osteosclerosis of the ulna (HP:0003991)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Gene: TNFRSF11A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Bone pain (HP:0002653)
Associated disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Gene: TNFRSF11A
Phenotype: Bone pain (HP:0002653)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Osteolysis (HP:0002797)
Associated disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Gene: TNFRSF11A
Phenotype: Osteolysis (HP:0002797)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Gene: TNFRSF11A
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Gene: TNFRSF11A
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Sandwich appearance of vertebral bodies (HP:0004618)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Tetraparesis (HP:0002273)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Paraparesis (HP:0002385)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Progressive (HP:0003676)
Associated disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Gene: TNFRSF11A
Phenotype: Progressive (HP:0003676)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Headache (HP:0002315)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Abnormal trabecular bone morphology (HP:0100671)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Bilateral conductive hearing impairment (HP:0008513)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Femur fracture (HP:0031846)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Nystagmus (HP:0000639)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Anemia (HP:0001903)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Short stature (HP:0004322)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Short stature (HP:0004322)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Recurrent long bone fractures (HP:0003084)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Hydroxyprolinuria (HP:0003080)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Hydroxyprolinuria (HP:0003080)
Associated disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Gene: TNFRSF11A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Third trimester onset (HP:0034197)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Gene: TNFRSF11A
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Short femur (HP:0003097)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Hypertension (HP:0000822)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)