TaoMedAI/RareMedData huggingface dataset:
Gene: SLC10A7
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC10A7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC10A7
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SLC10A7
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: SLC10A7
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC10A7
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC10A7
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: SLC10A7
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: ARMC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 38 (OMIM:618433)
Gene: ARMC2
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 38 (OMIM:618433)
Gene: ARMC2
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 38 (OMIM:618433)
Gene: ARMC2
Phenotype: Tapered sperm head (HP:0032562)
Associated disease: SPERMATOGENIC FAILURE 38 (OMIM:618433)
Gene: ARMC2
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 38 (OMIM:618433)
Gene: ARMC2
Phenotype: Abnormal sperm head morphology (HP:0012865)
Associated disease: SPERMATOGENIC FAILURE 38 (OMIM:618433)
Gene: ARMC2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 38 (OMIM:618433)
Gene: ARMC2
Phenotype: Abnormal axonemal organization of respiratory motile cilia (HP:0012258)
Associated disease: SPERMATOGENIC FAILURE 38 (OMIM:618433)
Gene: ARMC2
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 38 (OMIM:618433)
Gene: QRICH2
Phenotype: Absent sperm axoneme central pair complex (HP:0033525)
Associated disease: SPERMATOGENIC FAILURE 35 (OMIM:618341)
Gene: QRICH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 35 (OMIM:618341)
Gene: QRICH2
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 35 (OMIM:618341)
Gene: QRICH2
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 35 (OMIM:618341)
Gene: QRICH2
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 35 (OMIM:618341)
Gene: QRICH2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 35 (OMIM:618341)
Gene: QRICH2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 35 (OMIM:618341)
Gene: NSRP1
Phenotype: Simple ear (HP:0020206)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Sparse hair (HP:0008070)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: High forehead (HP:0000348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Persistent head lag (HP:0032988)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Protruding ear (HP:0000411)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: NSRP1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Gene: ARL6
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Syndactyly (HP:0001159)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ARL6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Ataxia (HP:0001251)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Micropenis (HP:0000054)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ARL6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 55 (OMIM:613575)
Gene: ARL6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ARL6
Phenotype: Scoliosis (HP:0002650)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Abnormality of the ovary (HP:0000137)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: High, narrow palate (HP:0002705)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ARL6
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Asthma (HP:0002099)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Gait imbalance (HP:0002141)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Poor coordination (HP:0002370)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Hirsutism (HP:0001007)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Nephrogenic diabetes insipidus (HP:0009806)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Dermatochalasis (HP:0010750)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Nystagmus (HP:0000639)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Dental crowding (HP:0000678)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: ARL6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Gene: ARL6
Phenotype: Hypodontia (HP:0000668)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Hyperautofluorescent macular lesion (HP:0030631)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Childhood onset (HP:0011463)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL6
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Gene: ARL6
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL6
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: ARL6
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)