TaoMedAI/RareMedData huggingface dataset:
Gene: NAA80
Phenotype: Hypertelorism (HP:0000316)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Chronic constipation (HP:0012450)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Protruding ear (HP:0000411)
Associated disease:  (OMIM:620830)
Gene: NAA80
Phenotype: Ptosis (HP:0000508)
Associated disease:  (OMIM:620830)
Gene: PANX1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: PANX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OOCYTE MATURATION DEFECT 7 (OMIM:618550)
Gene: PANX1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: PANX1
Phenotype: Increased oocyte death (HP:0032571)
Associated disease: OOCYTE MATURATION DEFECT 7 (OMIM:618550)
Gene: PANX1
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE MATURATION DEFECT 7 (OMIM:618550)
Gene: PANX1
Phenotype: Female infertility (HP:0008222)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: PANX1
Phenotype: Abnormal oocyte morphology (HP:0020155)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: PANX1
Phenotype: Abnormal meiosis (HP:0031515)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: PANX1
Phenotype: Oocyte arrest at metaphase I (HP:0031516)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: PRPF6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Gene: PRPF6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF6
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CBY1
Phenotype: Hand polydactyly (HP:0001161)
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
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: CBY1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CBY1
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CBY1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CBY1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CBY1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CBY1
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CBY1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CBY1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CBY1
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CBY1
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: DSTYK
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1 (OMIM:610805)
Gene: DSTYK
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Seizure (HP:0001250)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1 (OMIM:610805)
Gene: DSTYK
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1 (OMIM:610805)
Gene: DSTYK
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1 (OMIM:610805)
Gene: DSTYK
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1 (OMIM:610805)
Gene: DSTYK
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1 (OMIM:610805)
Gene: DSTYK
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1 (OMIM:610805)
Gene: DSTYK
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Premature graying of body hair (HP:0004771)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1 (OMIM:610805)
Gene: DSTYK
Phenotype: Silver-gray hair (HP:0002218)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Scapular winging (HP:0003691)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Vitiligo (HP:0001045)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Vitiligo (HP:0001045)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Multiple lentigines (HP:0001003)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Hyperpigmentation in sun-exposed areas (HP:0005586)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Short stature (HP:0004322)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Bowel urgency (HP:0012701)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)
Gene: DSTYK
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Retrognathia (HP:0000278)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Narrow face (HP:0000275)
Associated disease: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE (OMIM:270750)
Gene: DSTYK
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SPG23; Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome; Autosomal recessive spastic paraplegia type 23; Lison syndrome (ORPHA:101003)