TaoMedAI/RareMedData huggingface dataset:
Gene: HGSNAT
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Photopsia (HP:0030786)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Thickened ribs (HP:0000900)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Dense calvaria (HP:0000250)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Growth abnormality (HP:0001507)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Geographic atrophy (HP:0031609)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Early young adult onset (HP:0025708)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IIIC (OMIM:252930)
Gene: HGSNAT
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HGSNAT
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Color vision defect (HP:0000551)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HGSNAT
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: HGSNAT
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HGSNAT
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 73 (OMIM:616544)
Gene: HGSNAT
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DNAAF6
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Gene: DNAAF6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Gene: DNAAF6
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Gene: DNAAF6
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Gene: DNAAF6
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Gene: DNAAF6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Cough (HP:0012735)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Gene: DNAAF6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Male infertility (HP:0003251)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Gene: DNAAF6
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Gene: DNAAF6
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Gene: DNAAF6
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Gene: DNAAF6
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Gene: DNAAF6
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Nasal congestion (HP:0001742)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED (OMIM:300991)
Gene: DNAAF6
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: AMER1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Microtia (HP:0008551)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Seizure (HP:0001250)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: High iliac wing (HP:0008808)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Large iliac wing (HP:0008818)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)