TaoMedAI/RareMedData huggingface dataset:
Gene: RTL1
Phenotype: Coat hanger sign of ribs (HP:0006665)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Coat hanger sign of ribs (HP:0006665)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Small nail (HP:0001792)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Short neck (HP:0000470)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Short foot (HP:0001773)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Short foot (HP:0001773)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Short foot (HP:0001773)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Prominent calcaneus (HP:0012428)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Wide nose (HP:0000445)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Wide nose (HP:0000445)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Wide nose (HP:0000445)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Esotropia (HP:0000565)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DNAAF19
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Gene: DNAAF19
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Gene: DNAAF19
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Congenital onset (HP:0003577)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Gene: DNAAF19
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Gene: DNAAF19
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Gene: DNAAF19
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Cough (HP:0012735)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Gene: DNAAF19
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Gene: DNAAF19
Phenotype: Dynein arm defect of respiratory motile cilia (HP:0012255)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Gene: DNAAF19
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Gene: DNAAF19
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Gene: DNAAF19
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Gene: DNAAF19
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Gene: DNAAF19
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF19
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: YPEL2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: YPEL2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2 (OMIM:620344)
Gene: RGS9BP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2 (OMIM:620344)
Gene: RGS9BP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Difficulty adjusting to changes in luminance (HP:0030512)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2 (OMIM:620344)
Gene: RGS9BP
Phenotype: Bradyopsia (HP:0030511)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2 (OMIM:620344)
Gene: RGS9BP
Phenotype: Nystagmus (HP:0000639)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2 (OMIM:620344)
Gene: RGS9BP
Phenotype: Photophobia (HP:0000613)
Associated disease: Prolonged electroretinal response suppression; Bradyopsia; PERRS (ORPHA:75374)
Gene: RGS9BP
Phenotype: Photophobia (HP:0000613)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2 (OMIM:620344)
Gene: RGS9BP
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Childhood onset (HP:0011463)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2 (OMIM:620344)
Gene: RGS9BP
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Visual impairment (HP:0000505)
Associated disease: Prolonged electroretinal response suppression; Bradyopsia; PERRS (ORPHA:75374)
Gene: RGS9BP
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9BP
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEACAM16
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 113 (OMIM:618410)
Gene: CEACAM16
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 4B (OMIM:614614)
Gene: CEACAM16
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 113 (OMIM:618410)
Gene: CEACAM16
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 4B (OMIM:614614)
Gene: CEACAM16
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 113 (OMIM:618410)
Gene: CEACAM16
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 4B (OMIM:614614)
Gene: CEACAM16
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 113 (OMIM:618410)
Gene: CEACAM16
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 4B (OMIM:614614)
Gene: CEACAM16
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 4B (OMIM:614614)
Gene: BLOC1S3
Phenotype: Ocular albinism (HP:0001107)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Myopic astigmatism (HP:0500041)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Menorrhagia (HP:0000132)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Congenital onset (HP:0003577)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Silver-gray hair (HP:0002218)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Albinism (HP:0001022)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: High hypermetropia (HP:0008499)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Nystagmus (HP:0000639)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Blue irides (HP:0000635)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: High myopia (HP:0011003)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Excessive bleeding after a venipuncture (HP:0030139)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Excessive bleeding from superficial cuts (HP:0030138)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Astigmatism (HP:0000483)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Epistaxis (HP:0000421)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Moderate hypermetropia (HP:0031729)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Exotropia (HP:0000577)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Esotropia (HP:0000565)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: BLOC1S3
Phenotype: Myopia (HP:0000545)
Associated disease: HERMANSKY-PUDLAK SYNDROME 8 (OMIM:614077)
Gene: SLC6A17
Phenotype: Poor speech (HP:0002465)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Inability to walk (HP:0002540)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Inability to walk (HP:0002540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Waddling gait (HP:0002515)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Waddling gait (HP:0002515)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Tremor (HP:0001337)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)