TaoMedAI/RareMedData huggingface dataset:
Gene: PITX1
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: PITX1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Brachydactyly-elbow wrist dysplasia syndrome; Liebenberg syndrome; Brachydactyly-joint dysplasia syndrome (ORPHA:1275)
Gene: PITX1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Gene: PITX1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: PITX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Variable expressivity (HP:0003828)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Abnormal corneal limbus morphology (HP:0025348)
Associated disease: RING DERMOID OF CORNEA (OMIM:180550)
Gene: PITX2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Hypospadias (HP:0000047)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Thinning of Descemet membrane (HP:0031159)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PITX2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RING DERMOID OF CORNEA (OMIM:180550)
Gene: PITX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 4 (OMIM:137600)
Gene: PITX2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 4 (OMIM:137600)
Gene: PITX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Conjunctival dermolipoma (HP:0500070)
Associated disease: RING DERMOID OF CORNEA (OMIM:180550)
Gene: PITX2
Phenotype: Anal stenosis (HP:0002025)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Anal stenosis (HP:0002025)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Anal atresia (HP:0002023)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: PITX2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: PITX2
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: PITX2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: PITX2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PITX2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PITX2
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: PITX2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Amblyopia (HP:0000646)
Associated disease: RING DERMOID OF CORNEA (OMIM:180550)
Gene: PITX2
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: PITX2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Oligodontia (HP:0000677)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Microdontia (HP:0000691)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Microdontia (HP:0000691)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Peters anomaly (HP:0000659)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PITX2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Hypodontia (HP:0000668)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 4 (OMIM:137600)
Gene: PITX2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Central opacification of the cornea (HP:0011493)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PITX2
Phenotype: Anterior synechiae of the anterior chamber (HP:0011483)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PITX2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Polycoria (HP:0011500)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: PITX2
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PITX2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 4 (OMIM:137600)
Gene: PITX2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Redundant skin (HP:0001582)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Growth delay (HP:0001510)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: PITX2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Abnormally prominent line of Schwalbe (HP:0007873)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Corneal astigmatism (HP:0025612)
Associated disease: RING DERMOID OF CORNEA (OMIM:180550)
Gene: PITX2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: PITX2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Short philtrum (HP:0000322)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Hypoplastic iris stroma (HP:0007990)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 4 (OMIM:137600)
Gene: PITX2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: PITX2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Strabismus (HP:0000486)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Strabismus (HP:0000486)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PITX2
Phenotype: Megalocornea (HP:0000485)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Microcornea (HP:0000482)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: RING DERMOID OF CORNEA (OMIM:180550)
Gene: PITX2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Aniridia (HP:0000526)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: PITX2
Phenotype: Telecanthus (HP:0000506)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Abnormal conjunctiva morphology (HP:0000502)
Associated disease: RING DERMOID OF CORNEA (OMIM:180550)
Gene: PITX2
Phenotype: Glaucoma (HP:0000501)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 4 (OMIM:137600)
Gene: PITX2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Glaucoma (HP:0000501)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Axenfeld syndrome; Rieger syndrome; Axenfeld-Rieger syndrome (ORPHA:782)
Gene: PITX2
Phenotype: Rieger anomaly (HP:0000558)
Associated disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Gene: PITX2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PITX2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PITX3
Phenotype: Posterior polar cataract (HP:0001115)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 1 (OMIM:107250)
Gene: PITX3
Phenotype: Hypertonia (HP:0001276)
Associated disease: CATARACT 11, MULTIPLE TYPES (OMIM:610623)