TaoMedAI/RareMedData huggingface dataset:
Gene: OFD1
Phenotype: Motor delay (HP:0001270)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Gait disturbance (HP:0001288)
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: Gait disturbance (HP:0001288)
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: Seizure (HP:0001250)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Seizure (HP:0001250)
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: Seizure (HP:0001250)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Ataxia (HP:0001251)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Ataxia (HP:0001251)
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: Ataxia (HP:0001251)
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: Intellectual disability (HP:0001249)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Intellectual disability (HP:0001249)
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 (HP:0001249)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Polyphagia (HP:0002591)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
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: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
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: Bilateral cryptorchidism (HP:0008689)
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: Renal hypoplasia/aplasia (HP:0008678)
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: Abnormal cortical gyration (HP:0002536)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Highly arched eyebrow (HP:0002553)
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: Highly arched eyebrow (HP:0002553)
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: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Proteinuria (HP:0000093)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Proteinuria (HP:0000093)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Feeding difficulties in infancy (HP:0008872)
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: Feeding difficulties in infancy (HP:0008872)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Feeding difficulties in infancy (HP:0008872)
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: Central Y-shaped metacarpal (HP:0006145)
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: Dystonia (HP:0001332)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Absent speech (HP:0001344)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Tremor (HP:0001337)
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: Tremor (HP:0001337)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Tremor (HP:0001337)
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: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Dysmetria (HP:0001310)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
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: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
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: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Lobulated tongue (HP:0000180)
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: Tongue nodules (HP:0000199)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Tongue nodules (HP:0000199)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Tongue nodules (HP:0000199)
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: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
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: Accessory oral frenulum (HP:0000191)
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 dentition (HP:0000164)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OFD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Cleft palate (HP:0000175)
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: Ovarian cyst (HP:0000138)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OFD1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: OFD1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Abnormal pattern of respiration (HP:0002793)
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 upper respiratory tract infections (HP:0002788)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Renal agenesis (HP:0000104)
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: Hepatic cysts (HP:0001407)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Gene: OFD1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Gene: OFD1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OFD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: JOUBERT SYNDROME 10 (OMIM:300804)
Gene: OFD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Frontal bossing (HP:0002007)
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: Abnormal form of the vertebral bodies (HP:0003312)
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: Hamartoma of tongue (HP:0011802)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: OFD1; OFDSI; Orofaciodigital syndrome type 1; OFDI; Papillon-Léage-Psaume syndrome; Oral-facial-digital syndrome type 1 (ORPHA:2750)
Gene: OFD1
Phenotype: Hamartoma of tongue (HP:0011802)
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: Encephalocele (HP:0002084)
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: Cerebral atrophy (HP:0002059)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OFD1
Phenotype: Polydactyly (HP:0010442)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Gene: OFD1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)