TaoMedAI/RareMedData huggingface dataset:
Gene: MYPN
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Gowers sign (HP:0003391)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Gowers sign (HP:0003391)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Pulmonary venous hypertension (HP:0030950)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Middle age onset (HP:0003596)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Late onset (HP:0003584)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Facial palsy (HP:0010628)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Facial palsy (HP:0010628)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Scapular winging (HP:0003691)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Scapular winging (HP:0003691)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Frequent falls (HP:0002359)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Clumsiness (HP:0002312)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Difficulty running (HP:0009046)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Narrow chest (HP:0000774)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: Myopathy (HP:0003198)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: Pes valgus (HP:0008081)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: Narrow face (HP:0000275)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Long face (HP:0000276)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Long face (HP:0000276)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Interstitial cardiac fibrosis (HP:0031329)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: High palate (HP:0000218)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: High palate (HP:0000218)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: High palate (HP:0000218)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Slender build (HP:0001533)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Peripheral edema (HP:0012398)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Micrognathia (HP:0000347)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Breech presentation (HP:0001623)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Familial or idiopathic restrictive cardiomyopathy; Familial isolated restrictive cardiomyopathy (ORPHA:75249)
Gene: MYPN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Reduced systolic function (HP:0006673)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: MYPN
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Gene: MYPN
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Pes planus (HP:0001763)
Associated disease: Cap myopathy; Cap disease (ORPHA:171881)
Gene: MYPN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Gene: MYPN
Phenotype: Pes cavus (HP:0001761)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: MYPN
Phenotype: Ptosis (HP:0000508)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: HES7
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Meningocele (HP:0002435)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Hypospadias (HP:0000047)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Anal stenosis (HP:0002025)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Abnormal odontoid process morphology (HP:0003310)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Block vertebrae (HP:0003305)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HES7
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Urogenital fistula (HP:0100589)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: HES7
Phenotype: Aplasia of posterior communicating artery (HP:0034566)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Gene: HES7
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HES7
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)