TaoMedAI/RareMedData huggingface dataset:
Gene: PAX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PAX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: OPTIC NERVE HYPOPLASIA, BILATERAL (OMIM:165550)
Gene: PAX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Foveal hypoplasia-presenile cataract syndrome; O'Donnell-Pappas syndrome (ORPHA:2253)
Gene: PAX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Amblyopia (HP:0000646)
Associated disease: Ectasic coloboma; Morning glory syndrome; Morning glory disc anomaly (ORPHA:35737)
Gene: PAX6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Foveal hypoplasia-presenile cataract syndrome; O'Donnell-Pappas syndrome (ORPHA:2253)
Gene: PAX6
Phenotype: Sclerocornea (HP:0000647)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Red-green dyschromatopsia (HP:0000642)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Photophobia (HP:0000613)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: OPTIC NERVE HYPOPLASIA, BILATERAL (OMIM:165550)
Gene: PAX6
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Abnormal multifocal electroretinogram (HP:0030468)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Peters anomaly (HP:0000659)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Peters anomaly (HP:0000659)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PAX6
Phenotype: Peters anomaly (HP:0000659)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Peters anomaly (HP:0000659)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Short stature (HP:0004322)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Abnormal foveal pit on macular OCT (HP:0030622)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Congenital nystagmus (HP:0006934)
Associated disease: FOVEAL HYPOPLASIA 1 (OMIM:136520)
Gene: PAX6
Phenotype: Congenital nystagmus (HP:0006934)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: PAX6
Phenotype: Central opacification of the cornea (HP:0011493)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PAX6
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Anterior synechiae of the anterior chamber (HP:0011483)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Anterior synechiae of the anterior chamber (HP:0011483)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PAX6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: PAX6
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Chorioretinal hypopigmentation (HP:0040030)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Aplasia/Hypoplasia of the macula (HP:0008059)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Ectasic coloboma; Morning glory syndrome; Morning glory disc anomaly (ORPHA:35737)
Gene: PAX6
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: PAX6
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PAX6
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: KERATITIS, HEREDITARY (OMIM:148190)
Gene: PAX6
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: FOVEAL HYPOPLASIA 1 (OMIM:136520)
Gene: PAX6
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Morning glory anomaly (HP:0025514)
Associated disease: OPTIC NERVE HYPOPLASIA, BILATERAL (OMIM:165550)
Gene: PAX6
Phenotype: Morning glory anomaly (HP:0025514)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Growth delay (HP:0001510)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Obesity (HP:0001513)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Obesity (HP:0001513)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Presenile cataracts (HP:0007819)
Associated disease: FOVEAL HYPOPLASIA 1 (OMIM:136520)
Gene: PAX6
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: PAX6
Phenotype: Micrognathia (HP:0000347)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Corneal opacity (HP:0007957)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Hypoplastic iris stroma (HP:0007990)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: OPTIC NERVE HYPOPLASIA, BILATERAL (OMIM:165550)
Gene: PAX6
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Strabismus (HP:0000486)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Strabismus (HP:0000486)
Associated disease: Ectasic coloboma; Morning glory syndrome; Morning glory disc anomaly (ORPHA:35737)
Gene: PAX6
Phenotype: Strabismus (HP:0000486)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PAX6
Phenotype: Strabismus (HP:0000486)
Associated disease: Foveal hypoplasia-presenile cataract syndrome; O'Donnell-Pappas syndrome (ORPHA:2253)
Gene: PAX6
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Strabismus (HP:0000486)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Microcornea (HP:0000482)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Microcornea (HP:0000482)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Foveal hypoplasia-presenile cataract syndrome; O'Donnell-Pappas syndrome (ORPHA:2253)
Gene: PAX6
Phenotype: Keratitis (HP:0000491)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Keratitis (HP:0000491)
Associated disease: KERATITIS, HEREDITARY (OMIM:148190)
Gene: PAX6
Phenotype: Cataract (HP:0000518)
Associated disease: Ectasic coloboma; Morning glory syndrome; Morning glory disc anomaly (ORPHA:35737)
Gene: PAX6
Phenotype: Cataract (HP:0000518)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Cataract (HP:0000518)
Associated disease: Foveal hypoplasia-presenile cataract syndrome; O'Donnell-Pappas syndrome (ORPHA:2253)
Gene: PAX6
Phenotype: Cataract (HP:0000518)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Cataract (HP:0000518)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Cataract (HP:0000518)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Developmental cataract (HP:0000519)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Aniridia (HP:0000526)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Aniridia (HP:0000526)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Aniridia (HP:0000526)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: PAX6
Phenotype: Aniridia (HP:0000526)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Aniridia (HP:0000526)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PAX6
Phenotype: Ptosis (HP:0000508)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Ptosis (HP:0000508)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Visual impairment (HP:0000505)
Associated disease: FOVEAL HYPOPLASIA 1 (OMIM:136520)
Gene: PAX6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Visual impairment (HP:0000505)
Associated disease: OPTIC NERVE HYPOPLASIA, BILATERAL (OMIM:165550)
Gene: PAX6
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Foveal hypoplasia-presenile cataract syndrome; O'Donnell-Pappas syndrome (ORPHA:2253)
Gene: PAX6
Phenotype: Glaucoma (HP:0000501)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Glaucoma (HP:0000501)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Glaucoma (HP:0000501)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Glaucoma (HP:0000501)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Exotropia (HP:0000577)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Coloboma (HP:0000589)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Ectasic coloboma; Morning glory syndrome; Morning glory disc anomaly (ORPHA:35737)
Gene: PAX6
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: COLOBOMA OF OPTIC NERVE (OMIM:120430)
Gene: PAX6
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Rieger anomaly (HP:0000558)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Visual loss (HP:0000572)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Ectasic coloboma; Morning glory syndrome; Morning glory disc anomaly (ORPHA:35737)
Gene: PAX6
Phenotype: Retinal detachment (HP:0000541)
Associated disease: COLOBOMA OF OPTIC NERVE (OMIM:120430)
Gene: PAX6
Phenotype: Optic nerve aplasia (HP:0012521)
Associated disease: OPTIC NERVE HYPOPLASIA, BILATERAL (OMIM:165550)
Gene: PAX6
Phenotype: Optic nerve aplasia (HP:0012521)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: RHABDOMYOSARCOMA 2 (OMIM:268220)
Gene: PAX7
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Congenital contracture (HP:0002803)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Low-set ears (HP:0000369)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Micrognathia (HP:0000347)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Triangular face (HP:0000325)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Alveolar rhabdomyosarcoma (HP:0006779)
Associated disease: RHABDOMYOSARCOMA 2 (OMIM:268220)
Gene: PAX7
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX7
Phenotype: Renal atrophy (HP:0012585)
Associated disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Gene: PAX9
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: TOOTH AGENESIS, SELECTIVE, 3 (OMIM:604625)
Gene: PAX9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TOOTH AGENESIS, SELECTIVE, 3 (OMIM:604625)
Gene: PAX9
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Abnormal primary molar morphology (HP:0006344)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Short dental root (HP:0006336)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: TOOTH AGENESIS, SELECTIVE, 3 (OMIM:604625)
Gene: PAX9
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Taurodontia (HP:0000679)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Oligodontia (HP:0000677)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Oligodontia (HP:0000677)
Associated disease: TOOTH AGENESIS, SELECTIVE, 3 (OMIM:604625)
Gene: PAX9
Phenotype: Microdontia (HP:0000691)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Microdontia (HP:0000691)
Associated disease: TOOTH AGENESIS, SELECTIVE, 3 (OMIM:604625)
Gene: PAX9
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Anhidrosis (HP:0000970)
Associated disease: TOOTH AGENESIS, SELECTIVE, 3 (OMIM:604625)
Gene: PAX9
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: TOOTH AGENESIS, SELECTIVE, 3 (OMIM:604625)
Gene: PAX9
Phenotype: Oligodontia of primary teeth (HP:0012225)
Associated disease: TOOTH AGENESIS, SELECTIVE, 3 (OMIM:604625)
Gene: PAX9
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Agenesis of mandibular premolar (HP:0011053)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Agenesis of first permanent molar tooth (HP:0011056)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: PAX9
Phenotype: Agenesis of permanent molar (HP:0011055)
Associated disease: TOOTH AGENESIS, SELECTIVE, 3 (OMIM:604625)