TaoMedAI/RareMedData huggingface dataset:
Gene: POLR1B
Phenotype: Micrognathia (HP:0000347)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Micrognathia (HP:0000347)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Strabismus (HP:0000486)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: TREACHER COLLINS SYNDROME 4 (OMIM:618939)
Gene: POLR1B
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Cataract (HP:0000518)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Visual impairment (HP:0000505)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Short face (HP:0011219)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: POLR1B
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Franceschetti-Klein syndrome; Treacher-Collins syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Gene: ELMOD3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 88 (OMIM:615429)
Gene: ELMOD3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 81 (OMIM:619500)
Gene: ELMOD3
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 81 (OMIM:619500)
Gene: ELMOD3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 81 (OMIM:619500)
Gene: ELMOD3
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 81 (OMIM:619500)
Gene: ELMOD3
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 88 (OMIM:615429)
Gene: CHD6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Abnormality of the tongue (HP:0000157)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Small hand (HP:0200055)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Natal tooth (HP:0000695)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Short ribs (HP:0000773)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Rib exostoses (HP:0000896)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Sparse hair (HP:0008070)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Alopecia (HP:0001596)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Malar flattening (HP:0000272)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Abnormal cranial suture/fontanelle morphology (HP:0000235)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Micrognathia (HP:0000347)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Strabismus (HP:0000486)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Short foot (HP:0001773)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Telecanthus (HP:0000506)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Glaucoma (HP:0000501)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Uveitis (HP:0000554)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: CHD6
Phenotype: Myopia (HP:0000545)
Associated disease: Oculomandibulofacial syndrome; François dyscephalic syndrome; Hallermann-Streiff syndrome (ORPHA:2108)
Gene: FAR1
Phenotype: Juvenile cataract (HP:0001118)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Seizure (HP:0001250)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Spasticity (HP:0001257)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Inability to walk (HP:0002540)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Difficulty standing (HP:0003698)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Developmental regression (HP:0002376)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Gene: FAR1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Short stature (HP:0004322)
Associated disease: PFCRD; FAR1 deficiency; Peroxisomal fatty acyl-CoA reductase 1 disorder; Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
Gene: FAR1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAR1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY (OMIM:619338)
Gene: FAR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAR1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)