TaoMedAI/RareMedData huggingface dataset:
Gene: OFD1
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Eccentric visual fixation (HP:0025549)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: OFD1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: High palate (HP:0000218)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: High palate (HP:0000218)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: High palate (HP:0000218)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: High palate (HP:0000218)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: OFD1
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: OFD1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Growth delay (HP:0001510)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Growth delay (HP:0001510)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Obesity (HP:0001513)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Obesity (HP:0001513)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: OFD1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: OFD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: OFD1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: OFD1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: OFD1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: OFD1
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Telecanthus (HP:0000506)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Telecanthus (HP:0000506)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: OFD1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Short toe (HP:0001831)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Deviation of finger (HP:0004097)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Short 2nd toe (HP:0001885)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Esotropia (HP:0000565)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: OFD1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Color vision defect (HP:0000551)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SEMA7A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11 (OMIM:619874)
Gene: SEMA7A
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11 (OMIM:619874)
Gene: SEMA7A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11 (OMIM:619874)
Gene: SEMA7A
Phenotype: Abnormal circulating bilirubin concentration (HP:0033479)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11 (OMIM:619874)
Gene: SEMA7A
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11 (OMIM:619874)
Gene: SEMA7A
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11 (OMIM:619874)
Gene: SEMA7A
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11 (OMIM:619874)
Gene: SEMA7A
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 11 (OMIM:619874)
Gene: RGS5
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: RGS5
Phenotype: Elevated mean arterial pressure (HP:0004972)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)