TaoMedAI/RareMedData huggingface dataset:
Gene: OPA1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Abnormal retinal nerve fiber layer morphology (HP:0020119)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Moderately reduced visual acuity (HP:0030515)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Nystagmus (HP:0000639)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Abnormal amplitude of pattern reversal visual evoked potentials (HP:0000650)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Abnormal amplitude of pattern reversal visual evoked potentials (HP:0000650)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Red-green dyschromatopsia (HP:0000642)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Red-green dyschromatopsia (HP:0000642)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Blindness (HP:0000618)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Central scotoma (HP:0000603)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Central scotoma (HP:0000603)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Central scotoma (HP:0000603)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Hamstring contractures (HP:0003089)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Caesarean section (HP:0011410)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Dementia (HP:0000726)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Childhood onset (HP:0011463)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Childhood onset (HP:0011463)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Myopathy (HP:0003198)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Myopathy (HP:0003198)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Myopathy (HP:0003198)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Absent brainstem auditory responses (HP:0004463)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Hypoplastic optic chiasm (HP:0034311)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Pallor (HP:0000980)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: EMG: impaired neuromuscular transmission (HP:0100285)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Adductor longus contractures (HP:0006366)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Morning glory anomaly (HP:0025514)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Fatigue (HP:0012378)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Fatigue (HP:0012378)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Weak cry (HP:0001612)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Breech presentation (HP:0001623)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Strabismus (HP:0000486)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Strabismus (HP:0000486)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Pes cavus (HP:0001761)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Cataract (HP:0000518)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Ptosis (HP:0000508)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Ptosis (HP:0000508)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Visual impairment (HP:0000505)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Visual impairment (HP:0000505)
Associated disease: BEHR SYNDROME (OMIM:210000)
Gene: OPA1
Phenotype: Visual impairment (HP:0000505)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Centrocecal scotoma (HP:0000576)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Centrocecal scotoma (HP:0000576)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Tritanomaly (HP:0000552)
Associated disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Gene: OPA1
Phenotype: Tritanomaly (HP:0000552)
Associated disease: OPTIC ATROPHY 1 (OMIM:165500)
Gene: OPA1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Temporal optic disc pallor (HP:0012511)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: OPA1
Phenotype: Temporal optic disc pallor (HP:0012511)
Associated disease: ADOA+; DOA+; Autosomal dominant optic atrophy plus syndrome; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Gene: OPA1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Gene: OPA1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPCML
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: OPCML
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: OPCML
Phenotype: Dysgerminoma (HP:0100621)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: OPCML
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: OPCML
Phenotype: Ovarian papillary adenocarcinoma (HP:0006774)
Associated disease: OVARIAN CANCER (OMIM:167000)
Gene: TNFRSF11B
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Motor delay (HP:0001270)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Variable expressivity (HP:0003828)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Ankylosis (HP:0031013)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Ankylosis (HP:0031013)
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: Limitation of joint mobility (HP:0001376)
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: Joint dislocation (HP:0001373)
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: Arthritis (HP:0001369)
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: Joint swelling (HP:0001386)
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: Joint stiffness (HP:0001387)
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: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Gene: TNFRSF11B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11B
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11B
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11B
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)