TaoMedAI/RareMedData huggingface dataset:
Gene: STRC
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: STRC
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: STRC
Phenotype: Abnormal sperm tail morphology (HP:0012868)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: STRC
Phenotype: Abnormal sperm head morphology (HP:0012865)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: STRC
Phenotype: Male infertility (HP:0003251)
Associated disease: Deafness-infertility syndrome; DIS; Hearing loss-infertility syndrome (ORPHA:94064)
Gene: STRC
Phenotype: Male infertility (HP:0003251)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: STRC
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: STRC
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: STRC
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: STRC
Phenotype: Immotile sperm (HP:0012208)
Associated disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Gene: STRC
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Deafness-infertility syndrome; DIS; Hearing loss-infertility syndrome (ORPHA:94064)
Gene: STRC
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 16 (OMIM:603720)
Gene: STRC
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Gene: DNAAF4
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSLEXIA, SUSCEPTIBILITY TO, 1 (OMIM:127700)
Gene: DNAAF4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Productive cough (HP:0031245)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: DYSLEXIA, SUSCEPTIBILITY TO, 1 (OMIM:127700)
Gene: DNAAF4
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Dyslexia (HP:0010522)
Associated disease: DYSLEXIA, SUSCEPTIBILITY TO, 1 (OMIM:127700)
Gene: DNAAF4
Phenotype: Infantile onset (HP:0003593)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Infertility (HP:0000789)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Chronic cough (HP:0034315)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Microcephaly (HP:0000252)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Chronic pulmonary obstruction (HP:0006510)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Polysplenia (HP:0001748)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 25 (OMIM:615482)
Gene: DNAAF4
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: OTUD7A
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Focal impaired awareness tonic seizure (HP:0032724)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Macrotia (HP:0000400)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: OTUD7A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Gene: SPRED1
Phenotype: Xanthelasma (HP:0001114)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Motor delay (HP:0001270)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Seizure (HP:0001250)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Hypotonia (HP:0001252)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Dystonia (HP:0001332)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Freckling (HP:0001480)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Polydactyly (HP:0010442)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Vestibular schwannoma (HP:0009588)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Optic nerve glioma (HP:0009734)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Lisch nodules (HP:0009737)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Male urethral meatus stenosis (HP:0032077)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Acute monocytic leukemia (HP:0004845)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Neurofibroma (HP:0001067)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Neurofibroma (HP:0001067)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: LEGIUS SYNDROME (OMIM:611431)
Gene: SPRED1
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Legius syndrome; Nonmosaic Legius syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; NF1-like syndrome (ORPHA:137605)
Gene: SPRED1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)