TaoMedAI/RareMedData huggingface dataset:
Gene: NARS2
Phenotype: Ptosis (HP:0000508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Gene: KCTD17
Phenotype: Panic attack (HP:0025269)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: KCTD17
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Personality disorder (HP:0012075)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: KCTD17
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Dystonia (HP:0001332)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: KCTD17
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Myoclonus (HP:0001336)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Myoclonus (HP:0001336)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: KCTD17
Phenotype: Spinal myoclonus (HP:0010531)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: KCTD17
Phenotype: Progressive (HP:0003676)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Writer's cramp (HP:0002356)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: KCTD17
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Blepharospasm (HP:0000643)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Anxiety (HP:0000739)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Anxiety (HP:0000739)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: KCTD17
Phenotype: Depression (HP:0000716)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Depression (HP:0000716)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: KCTD17
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: KCTD17
Phenotype: Childhood onset (HP:0011463)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: KCTD17
Phenotype: Dysphonia (HP:0001618)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Torticollis (HP:0000473)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: KCTD17
Phenotype: Torticollis (HP:0000473)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: KCTD17
Phenotype: Early young adult onset (HP:0025708)
Associated disease: DYSTONIA 26, MYOCLONIC (OMIM:616398)
Gene: TEFM
Phenotype: CNS demyelination (HP:0007305)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Gait disturbance (HP:0001288)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Ataxia (HP:0001251)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Myoclonus (HP:0001336)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Vomiting (HP:0002013)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Gait ataxia (HP:0002066)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Gliosis (HP:0002171)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Low insertion of columella (HP:0010763)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Nystagmus (HP:0000639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Childhood onset (HP:0011463)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Epilepsia partialis continua (HP:0012847)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Epicanthus (HP:0000286)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Low-set ears (HP:0000369)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Strabismus (HP:0000486)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Ptosis (HP:0000508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: TEFM
Phenotype: Visual loss (HP:0000572)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58 (OMIM:620451)
Gene: BBS10
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: BARDET-BIEDL SYNDROME 10 (OMIM:615987)
Gene: BBS10
Phenotype: Seizure (HP:0001250)
Associated disease: BARDET-BIEDL SYNDROME 10 (OMIM:615987)
Gene: BBS10
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 10 (OMIM:615987)
Gene: BBS10
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: BARDET-BIEDL SYNDROME 10 (OMIM:615987)
Gene: BBS10
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 10 (OMIM:615987)
Gene: BBS10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BARDET-BIEDL SYNDROME 10 (OMIM:615987)
Gene: BBS10
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Renal cyst (HP:0000107)
Associated disease: BARDET-BIEDL SYNDROME 10 (OMIM:615987)
Gene: BBS10
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Polydactyly (HP:0010442)
Associated disease: BARDET-BIEDL SYNDROME 10 (OMIM:615987)
Gene: BBS10
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 10 (OMIM:615987)
Gene: BBS10
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 10 (OMIM:615987)
Gene: BBS10
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS10
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS10
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BARDET-BIEDL SYNDROME 10 (OMIM:615987)
Gene: BBS10
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)