TaoMedAI/RareMedData huggingface dataset:
Gene: FOXF1
Phenotype: Asplenia (HP:0001746)
Associated disease: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS (OMIM:265380)
Gene: FOXF1
Phenotype: Asplenia (HP:0001746)
Associated disease: Congenital alveolar capillary dysplasia; Alveolar capillary dysplasia with misalignment of pulmonary vessels; Alveolar capillary dysplasia with misalignment of pulmonary veins; ACDMPV (ORPHA:210122)
Gene: FOXC1
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Thinning of Descemet membrane (HP:0031159)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: FOXC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Axenfeld anomaly (HP:0001492)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Anal stenosis (HP:0002025)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Microspherophakia (HP:0030961)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Lens coloboma (HP:0100719)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: FOXC1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Limbal stem cell deficiency (HP:0032107)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: FOXC1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Red-green dyschromatopsia (HP:0000642)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Photophobia (HP:0000613)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Abnormal multifocal electroretinogram (HP:0030468)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Microdontia (HP:0000691)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Microdontia (HP:0000691)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Peters anomaly (HP:0000659)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Peters anomaly (HP:0000659)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: FOXC1
Phenotype: Peters anomaly (HP:0000659)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Hypodontia (HP:0000668)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Abnormal foveal pit on macular OCT (HP:0030622)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Central opacification of the cornea (HP:0011493)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: FOXC1
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Posterior synechiae of the anterior chamber (HP:0011484)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Anterior synechiae of the anterior chamber (HP:0011483)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: FOXC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Aplasia/Hypoplasia of the macula (HP:0008059)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Malar flattening (HP:0000272)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: FOXC1
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Growth delay (HP:0001510)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Abnormal iris vasculature (HP:0007905)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Hypoplastic iris stroma (HP:0007990)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Strabismus (HP:0000486)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: FOXC1
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Cataract (HP:0000518)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Aniridia (HP:0000526)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Proptosis (HP:0000520)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: FOXC1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Glaucoma (HP:0000501)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Gene: FOXC1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Glaucoma (HP:0000501)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: FOXC1
Phenotype: Rieger anomaly (HP:0000558)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Gene: FOXC1
Phenotype: Visual loss (HP:0000572)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXC1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: FOXI1
Phenotype: Hypoplasia of the cochlea (HP:0008586)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Cochlear malformation (HP:0008554)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: FOXI1
Phenotype: Ataxia (HP:0001251)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: FOXI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: FOXI1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: FOXI1
Phenotype: Increased circulating thyroglobulin concentration (HP:0025484)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: FOXI1
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Compensated hypothyroidism (HP:0008223)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: FOXI1
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: FOXI1
Phenotype: Vertigo (HP:0002321)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: FOXI1
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: FOXI1
Phenotype: Enlarged vestibular aqueduct (HP:0011387)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Goiter (HP:0000853)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Goiter (HP:0000853)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: FOXI1
Phenotype: Goiter (HP:0000853)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: FOXI1
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: FOXI1
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Incomplete partition of the cochlea type II (HP:0000376)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: FOXI1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
Gene: FOXI1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Gene: FOXI1
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: PENDRED SYNDROME (OMIM:274600)
Gene: FOXL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTOSCLEROSIS 11 (OMIM:620576)
Gene: FOXL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FOXL1
Phenotype: Absence of acoustic reflex (HP:0008529)
Associated disease: OTOSCLEROSIS 11 (OMIM:620576)
Gene: FOXL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OTOSCLEROSIS 11 (OMIM:620576)
Gene: FOXL1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FOXL1
Phenotype: Young adult onset (HP:0011462)
Associated disease: OTOSCLEROSIS 11 (OMIM:620576)
Gene: FOXL1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FOXL1
Phenotype: Otosclerosis (HP:0000362)
Associated disease: OTOSCLEROSIS 11 (OMIM:620576)
Gene: FOXL1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FOXL1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FOXL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSCLEROSIS 11 (OMIM:620576)
Gene: FOXL1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: OTOSCLEROSIS 11 (OMIM:620576)
Gene: FOXL1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: FOXE3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FOXE3
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO (OMIM:617349)
Gene: FOXE3
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Pregnancy history (HP:0002686)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Thinning of Descemet membrane (HP:0031159)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: FOXE3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 2 (OMIM:610256)
Gene: FOXE3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FOXE3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FOXE3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO (OMIM:617349)
Gene: FOXE3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FOXE3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 2 (OMIM:610256)
Gene: FOXE3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FOXE3
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Corneal perforation (HP:0100583)
Associated disease: Congenital primary aphakia (ORPHA:83461)
Gene: FOXE3
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 2 (OMIM:610256)
Gene: FOXE3
Phenotype: Adult onset (HP:0003581)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO (OMIM:617349)
Gene: FOXE3
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Mucoid extracellular matrix accumulation (HP:0200146)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Dural ectasia (HP:0100775)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Congenital primary aphakia (ORPHA:83461)
Gene: FOXE3
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: FOXE3
Phenotype: Descending thoracic aorta aneurysm (HP:0004959)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: FOXE3
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO (OMIM:617349)