TaoMedAI/RareMedData huggingface dataset:
Gene: PAX3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Hypoplastic iris stroma (HP:0007990)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Gene: PAX3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Gene: PAX3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Strabismus (HP:0000486)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Gene: PAX3
Phenotype: Bilateral wrist flexion contracture (HP:0012453)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Alveolar rhabdomyosarcoma (HP:0006779)
Associated disease: RHABDOMYOSARCOMA 2 (OMIM:268220)
Gene: PAX3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Telecanthus (HP:0000506)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Telecanthus (HP:0000506)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Telecanthus (HP:0000506)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Telecanthus (HP:0000506)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Telecanthus (HP:0000506)
Associated disease: CRANIOFACIAL-DEAFNESS-HAND SYNDROME (OMIM:122880)
Gene: PAX3
Phenotype: Ptosis (HP:0000508)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: WAARDENBURG SYNDROME, TYPE 1 (OMIM:193500)
Gene: PAX3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Waardenburg syndrome type 3; Klein-Waardenburg syndrome; WS3; Waardenburg syndrome type III; Waardenburg syndrome with limb anomalies (ORPHA:896)
Gene: PAX3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: WS1; Waardenburg syndrome type 1; Waardenburg syndrome type I (ORPHA:894)
Gene: PAX3
Phenotype: Lacrimal duct atresia (HP:0000564)
Associated disease: Craniofacial-hearing loss-hand syndrome; Sommer-Young-Wee-Frye syndrome; Craniofacial-deafness-hand syndrome; CDHS (ORPHA:1529)
Gene: PAX3
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: WAARDENBURG SYNDROME, TYPE 3 (OMIM:148820)
Gene: PAX3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAX3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAX4
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Acidemia (HP:0032368)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (OMIM:612225)
Gene: PAX4
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Anti-glutamic acid decarboxylase antibody positivity (HP:0025329)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (OMIM:612225)
Gene: PAX4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIABETES MELLITUS, KETOSIS-PRONE (OMIM:612227)
Gene: PAX4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PAX4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (OMIM:612225)
Gene: PAX4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIABETES MELLITUS, KETOSIS-PRONE (OMIM:612227)
Gene: PAX4
Phenotype: Beta-cell dysfunction (HP:0006279)
Associated disease: DIABETES MELLITUS, KETOSIS-PRONE (OMIM:612227)
Gene: PAX4
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: DIABETES MELLITUS, KETOSIS-PRONE (OMIM:612227)
Gene: PAX4
Phenotype: Nephropathy (HP:0000112)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Renal cyst (HP:0000107)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Polyuria (HP:0000103)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (OMIM:612225)
Gene: PAX4
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PAX4
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PAX4
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (OMIM:612225)
Gene: PAX4
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PAX4
Phenotype: Polydipsia (HP:0001959)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (OMIM:612225)
Gene: PAX4
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: DIABETES MELLITUS, KETOSIS-PRONE (OMIM:612227)
Gene: PAX4
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Glycosuria (HP:0003076)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (OMIM:612225)
Gene: PAX4
Phenotype: Young adult onset (HP:0011462)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (OMIM:612225)
Gene: PAX4
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PAX4
Phenotype: Insulin resistance (HP:0000855)
Associated disease: DIABETES MELLITUS, KETOSIS-PRONE (OMIM:612227)
Gene: PAX4
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DIABETES MELLITUS, KETOSIS-PRONE (OMIM:612227)
Gene: PAX4
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (OMIM:612225)
Gene: PAX4
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (OMIM:612225)
Gene: PAX4
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Overweight (HP:0025502)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Obesity (HP:0001513)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Ketonuria (HP:0002919)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (OMIM:612225)
Gene: PAX4
Phenotype: Autoimmunity (HP:0002960)
Associated disease: DIABETES MELLITUS, KETOSIS-PRONE (OMIM:612227)
Gene: PAX4
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX4
Phenotype: Retinopathy (HP:0000488)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: PAX6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Anterior subcapsular cataract (HP:0010923)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Dysfunction of lateral corticospinal tracts (HP:0007299)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: PAX6
Phenotype: Ataxia (HP:0001251)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: PAX6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: PAX6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: PAX6
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Foveal hypoplasia-presenile cataract syndrome; O'Donnell-Pappas syndrome (ORPHA:2253)
Gene: PAX6
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Abnormal corneal limbus morphology (HP:0025348)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Hypospadias (HP:0000047)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Thinning of Descemet membrane (HP:0031159)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PAX6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FOVEAL HYPOPLASIA 1 (OMIM:136520)
Gene: PAX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLOBOMA OF OPTIC NERVE (OMIM:120430)
Gene: PAX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KERATITIS, HEREDITARY (OMIM:148190)
Gene: PAX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OPTIC NERVE HYPOPLASIA, BILATERAL (OMIM:165550)
Gene: PAX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Macular agenesis (HP:0033743)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Scoliosis (HP:0002650)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Contiguous gene syndrome (HP:0001466)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OPTIC NERVE HYPOPLASIA, BILATERAL (OMIM:165550)
Gene: PAX6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 5 (OMIM:604229)
Gene: PAX6
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Nephropathy (HP:0000112)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Microspherophakia (HP:0030961)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Streak ovary (HP:0010464)
Associated disease: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:194072)
Gene: PAX6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Scanning speech (HP:0002168)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: PAX6
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: PAX6
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Lens coloboma (HP:0100719)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Corneal erosion (HP:0200020)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: Del(11)(p13); Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome; WAGR syndrome; Monosomy 11p13; Deletion 11p13 (ORPHA:893)
Gene: PAX6
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PAX6
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PAX6
Phenotype: Limbal stem cell deficiency (HP:0032107)
Associated disease: Hereditary keratitis; Autosomal dominant keratitis (ORPHA:2334)
Gene: PAX6
Phenotype: Limbal stem cell deficiency (HP:0032107)
Associated disease: Isolated aniridia (ORPHA:250923)
Gene: PAX6
Phenotype: Increased proinsulin:insulin ratio (HP:0031883)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT (OMIM:120200)
Gene: PAX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: ANIRIDIA 1 (OMIM:106210)
Gene: PAX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Ectasic coloboma; Morning glory syndrome; Morning glory disc anomaly (ORPHA:35737)