TaoMedAI/RareMedData huggingface dataset:
Gene: CFAP221
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: YOUNG SYNDROME (OMIM:279000)
Gene: CFAP221
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: YOUNG SYNDROME (OMIM:279000)
Gene: CFAP221
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: YOUNG SYNDROME (OMIM:279000)
Gene: CFAP221
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP221
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: VWA3B
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: VWA3B
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 (OMIM:616948)
Gene: TET3
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Seizure (HP:0001250)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Open mouth (HP:0000194)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Nystagmus (HP:0000639)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Anxiety (HP:0000739)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Depression (HP:0000716)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Long face (HP:0000276)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Microcephaly (HP:0000252)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: High palate (HP:0000218)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Long philtrum (HP:0000343)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Broad forehead (HP:0000337)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: High forehead (HP:0000348)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Strabismus (HP:0000486)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Pes planus (HP:0001763)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Protruding ear (HP:0000411)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Ptosis (HP:0000508)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: TET3
Phenotype: Extra-axial cerebrospinal fluid accumulation (HP:0012510)
Associated disease: BECK-FAHRNER SYNDROME (OMIM:618798)
Gene: PIKFYVE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, FLECK (OMIM:121850)
Gene: PIKFYVE
Phenotype: Photophobia (HP:0000613)
Associated disease: CORNEAL DYSTROPHY, FLECK (OMIM:121850)
Gene: PIKFYVE
Phenotype: Speckled corneal dystrophy (HP:0007962)
Associated disease: CORNEAL DYSTROPHY, FLECK (OMIM:121850)
Gene: SPRED2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Wide mouth (HP:0000154)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Abnormal platelet function (HP:0011869)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Congenital onset (HP:0003577)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Curly hair (HP:0002212)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Coarse hair (HP:0002208)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Scapular winging (HP:0003691)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Lymphedema (HP:0001004)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Blue irides (HP:0000635)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Aplasia of the semicircular canal (HP:0011381)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SPRED2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPRED2
Phenotype: Short stature (HP:0004322)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Short stature (HP:0004322)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: NOONAN SYNDROME 14 (OMIM:619745)
Gene: SPRED2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: SPRED2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPRED2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)