TaoMedAI/RareMedData huggingface dataset:
Gene: ESCO2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Low-set ears (HP:0000369)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Micrognathia (HP:0000347)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Micrognathia (HP:0000347)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Premature birth (HP:0001622)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Short neck (HP:0000470)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Short neck (HP:0000470)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Hammertoe (HP:0001765)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Abnormal toe morphology (HP:0001780)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Wide nose (HP:0000445)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Accessory spleen (HP:0001747)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Cataract (HP:0000518)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Cataract (HP:0000518)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Sandal gap (HP:0001852)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Proptosis (HP:0000520)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Proptosis (HP:0000520)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Ptosis (HP:0000508)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Ptosis (HP:0000508)
Associated disease: JUBERG-HAYWARD SYNDROME (OMIM:216100)
Gene: ESCO2
Phenotype: Glaucoma (HP:0000501)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Coloboma (HP:0000589)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: ESCO2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: ROBERTS-SC PHOCOMELIA SYNDROME (OMIM:268300)
Gene: ESCO2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ESCO2
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Gene: ESCO2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ESCO2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SC pseudothalidomide syndrome; Pseudothalidomide syndrome; Roberts syndrome; SC phocomelia; Roberts-SC phocomelia syndrome (ORPHA:3103)
Gene: CFAP418
Phenotype: Beaten bronze macular sheen (HP:0025147)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CFAP418
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Macular atrophy (HP:0007401)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CFAP418
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CFAP418
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CFAP418
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Blindness (HP:0000618)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CFAP418
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Hypodontia (HP:0000668)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Hyperautofluorescent macular lesion (HP:0030631)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CFAP418
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: CFAP418
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: BARDET-BIEDL SYNDROME 21 (OMIM:617406)
Gene: CFAP418
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CFAP418
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: CONE-ROD DYSTROPHY 16 (OMIM:614500)
Gene: CFAP418
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP418
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)