TaoMedAI/RareMedData huggingface dataset:
Gene: AFG2A
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Long nose (HP:0003189)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Sacral hypertrichosis (HP:0004532)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Retrognathia (HP:0000278)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Strabismus (HP:0000486)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Chronic constipation (HP:0012450)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: EEG with frontal sharp slow waves (HP:0011290)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Visual impairment (HP:0000505)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Visual impairment (HP:0000505)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: AFG2A
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Gene: AFG2A
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Gene: BBS12
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hydroureter (HP:0000072)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Polydactyly (HP:0010442)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Cystic renal dysplasia (HP:0000800)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Obesity (HP:0001513)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Abdominal mass (HP:0031500)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Gene: BBS12
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: BBS12
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BBS12
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ADGRA3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MMAA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Lethargy (HP:0001254)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Seizure (HP:0001250)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Hypotonia (HP:0001252)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Coma (HP:0001259)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Tremor (HP:0001337)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Vomiting (HP:0002013)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Respiratory distress (HP:0002098)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Infantile onset (HP:0003593)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Elevated urine 3-hydroxypropionic acid level (HP:0034661)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)
Gene: MMAA
Phenotype: Elevated urine 2-methylcitric acid level (HP:0034662)
Associated disease: METHYLMALONIC ACIDURIA, cblA TYPE (OMIM:251100)