TaoMedAI/RareMedData huggingface dataset:
Gene: OFD1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Polymicrogyria (HP:0002126)
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: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Apnea (HP:0002104)
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: Apnea (HP:0002104)
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: Intellectual disability, profound (HP:0002187)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Abnormality of neuronal migration (HP:0002269)
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: Abnormality of neuronal migration (HP:0002269)
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: Congenital onset (HP:0003577)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Aganglionic megacolon (HP:0002251)
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: Coarse hair (HP:0002208)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Brittle hair (HP:0002299)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Hypoplasia of olfactory tract (HP:0007036)
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: Tarsal synostosis (HP:0008368)
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 sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Milia (HP:0001056)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Milia (HP:0001056)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Hirsutism (HP:0001007)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Open bite (HP:0010807)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Odontogenic neoplasm (HP:0100612)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Tube feeding (HP:0033454)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Midline notch of upper alveolar ridge (HP:0009084)
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: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Nystagmus (HP:0000639)
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: Nystagmus (HP:0000639)
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: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Photophobia (HP:0000613)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Iris coloboma (HP:0000612)
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: Recurrent fever (HP:0001954)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Dry hair (HP:0011359)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Oculomotor apraxia (HP:0000657)
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: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Carious teeth (HP:0000670)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Broad thumb (HP:0011304)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Hypodontia (HP:0000668)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Short stature (HP:0004322)
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 stature (HP:0004322)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Short stature (HP:0004322)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
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: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Biparietal narrowing (HP:0004422)
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: Biparietal narrowing (HP:0004422)
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: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
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: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Hypertension (HP:0000822)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Hypertension (HP:0000822)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Bifid tongue (HP:0010297)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Finger clinodactyly (HP:0040019)
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 clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Mesoaxial polydactyly (HP:0100260)
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: Lip pit (HP:0100267)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Preaxial polydactyly (HP:0100258)
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: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Dry skin (HP:0000958)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Sparse hair (HP:0008070)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Sparse hair (HP:0008070)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Short finger (HP:0009381)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Epicanthus (HP:0000286)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Epicanthus (HP:0000286)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Epicanthus (HP:0000286)
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: Epicanthus (HP:0000286)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Mild myopia (HP:0025573)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Alopecia (HP:0001596)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Alopecia (HP:0001596)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Long face (HP:0000276)
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: Long face (HP:0000276)
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)