TaoMedAI/RareMedData huggingface dataset:
Gene: CAV3
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Chest pain (HP:0100749)
Associated disease: LONG QT SYNDROME 9 (OMIM:611818)
Gene: CAV3
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: Isolated asymptomatic hyperCKemia; Idiopathic asymptomatic hyperCKemia; Isolated asymptomatic elevation of creatine phosphokinase (ORPHA:206599)
Gene: CAV3
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Abnormal U wave (HP:0025070)
Associated disease: LONG QT SYNDROME 9 (OMIM:611818)
Gene: CAV3
Phenotype: Clumsiness (HP:0002312)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LONG QT SYNDROME 9 (OMIM:611818)
Gene: CAV3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: Inflammatory myopathy (HP:0009071)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Palpitations (HP:0001962)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Palpitations (HP:0001962)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: LONG QT SYNDROME 9 (OMIM:611818)
Gene: CAV3
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Myopathy (HP:0003198)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Myopathy (HP:0003198)
Associated disease: Isolated asymptomatic hyperCKemia; Idiopathic asymptomatic hyperCKemia; Isolated asymptomatic elevation of creatine phosphokinase (ORPHA:206599)
Gene: CAV3
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Isolated asymptomatic hyperCKemia; Idiopathic asymptomatic hyperCKemia; Isolated asymptomatic elevation of creatine phosphokinase (ORPHA:206599)
Gene: CAV3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: RIPPLING MUSCLE DISEASE 2 (OMIM:606072)
Gene: CAV3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: CAV3
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CAV3
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Abnormal muscle fiber protein expression (HP:0030089)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Fatigue (HP:0012378)
Associated disease: CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
Gene: CAV3
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: LONG QT SYNDROME 9 (OMIM:611818)
Gene: CAV3
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: LONG QT SYNDROME 9 (OMIM:611818)
Gene: CAV3
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Sudden death (HP:0001699)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: CAV3
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: CAV3
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CAV3
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: CAV3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: CAV3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CAV3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CAV3
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: LONG QT SYNDROME 9 (OMIM:611818)
Gene: CAV3
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 (OMIM:192600)
Gene: CAV3
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CAV3
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CAV3
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: CAV3
Phenotype: Late young adult onset (HP:0025710)
Associated disease: LONG QT SYNDROME 9 (OMIM:611818)
Gene: CAV3
Phenotype: Pes cavus (HP:0001761)
Associated disease: MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
Gene: CAV3
Phenotype: Pes cavus (HP:0001761)
Associated disease: Distal myopathy, Tateyama type (ORPHA:488650)
Gene: RUNX2
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Tapered finger (HP:0001182)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Short femoral neck (HP:0100864)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Long second metacarpal (HP:0006040)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Absent paranasal sinuses (HP:0002689)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Absent frontal sinuses (HP:0002688)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Moderately short stature (HP:0008848)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Hypoplastic inferior ilia (HP:0008821)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Delayed pubic bone ossification (HP:0008788)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Wormian bones (HP:0002645)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Wormian bones (HP:0002645)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Aplasia/Hypoplasia of the calvaria (HP:6000872)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Wide sacroiliac joint (HP:6000875)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Narrow palate (HP:0000189)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Large foramen magnum (HP:0002700)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Hypoplastic frontal sinuses (HP:0002738)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Spondylolysis (HP:0003304)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Syringomyelia (HP:0003396)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Short middle phalanx of the 2nd finger (HP:0009577)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Short middle phalanx of the 2nd finger (HP:0009577)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Open bite (HP:0010807)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Dimple chin (HP:0010751)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Carious teeth (HP:0000670)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Short stature (HP:0004322)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Short stature (HP:0004322)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Short stature (HP:0004322)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Osteoporosis of vertebrae (HP:0005625)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RUNX2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Narrow chest (HP:0000774)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Narrow chest (HP:0000774)
Associated disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Gene: RUNX2
Phenotype: Short ribs (HP:0000773)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RUNX2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Gene: RUNX2
Phenotype: Wide pubic symphysis (HP:0003183)
Associated disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Gene: RUNX2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)