TaoMedAI/RareMedData huggingface dataset:
Gene: CASK
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FG SYNDROME 4 (OMIM:300422)
Gene: CASK
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Oval face (HP:0000300)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FG SYNDROME 4 (OMIM:300422)
Gene: CASK
Phenotype: Macrotia (HP:0000400)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Strabismus (HP:0000486)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: FG SYNDROME 4 (OMIM:300422)
Gene: CASK
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Anisocytosis (HP:0011273)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Visual impairment (HP:0000505)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Prominent forehead (HP:0011220)
Associated disease: FG SYNDROME 4 (OMIM:300422)
Gene: CASK
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Myopia (HP:0000545)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: PRKRA
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Limb dystonia (HP:0002451)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Motor delay (HP:0001270)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Motor delay (HP:0001270)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Retrocollis (HP:0002544)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Parkinsonism (HP:0001300)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Parkinsonism (HP:0001300)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Dysphagia (HP:0002015)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Bradykinesia (HP:0002067)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Bradykinesia (HP:0002067)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Postural tremor (HP:0002174)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Postural tremor (HP:0002174)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Progressive (HP:0003676)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Unsteady gait (HP:0002317)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Limb pain (HP:0009763)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Involuntary movements (HP:0004305)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Dysphonia (HP:0001618)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Dysphonia (HP:0001618)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Torticollis (HP:0000473)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Early young adult onset (HP:0025708)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: PRKRA
Phenotype: Lower limb pain (HP:0012514)
Associated disease: DYT16; Dystonia 16; Early-onset dystonia parkinsonism (ORPHA:210571)
Gene: PRKRA
Phenotype: Lower limb pain (HP:0012514)
Associated disease: DYSTONIA 16 (OMIM:612067)
Gene: TNFSF11
Phenotype: Facial paralysis (HP:0007209)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Seizure (HP:0001250)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Tremor (HP:0001337)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Bone pain (HP:0002653)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Mandibular osteomyelitis (HP:0007626)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Apnea (HP:0002104)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Opsoclonus (HP:0010543)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Neonatal onset (HP:0003623)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Nystagmus (HP:0000639)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Nystagmus (HP:0000639)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Anemia (HP:0001903)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Anemia (HP:0001903)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Carious teeth (HP:0000670)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Gene: TNFSF11
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFSF11
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: TNFSF11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFSF11
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)