TaoMedAI/RareMedData huggingface dataset:
Gene: GZF1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Hip contracture (HP:0003273)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Meningeal calcification (HP:0100250)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Dumbbell-shaped long bone (HP:0000947)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: GZF1
Phenotype: Diminished sulfotransferase activity in cultured fibroblasts (HP:6000970)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Small distal femoral epiphysis (HP:0012283)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Malar flattening (HP:0000272)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Malar flattening (HP:0000272)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: GZF1
Phenotype: Malar flattening (HP:0000272)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Malar flattening (HP:0000272)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Fixed elbow flexion (HP:0006471)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Generalized bone demineralization (HP:0006462)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Irregular proximal tibial epiphyses (HP:0006456)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: GZF1
Phenotype: Irregular distal femoral epiphysis (HP:0006407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Coxa vara (HP:0002812)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Arthralgia (HP:0002829)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: GZF1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Knee osteoarthritis (HP:0005086)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Dumbbell-shaped femur (HP:0006375)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GZF1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: JOINT LAXITY, SHORT STATURE, AND MYOPIA (OMIM:617662)
Gene: GZF1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GZF1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: GZF1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GZF1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Flat face (HP:0012368)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: JOINT LAXITY, SHORT STATURE, AND MYOPIA (OMIM:617662)
Gene: GZF1
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: JOINT LAXITY, SHORT STATURE, AND MYOPIA (OMIM:617662)
Gene: GZF1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GZF1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: High myopia (HP:0011003)
Associated disease: JOINT LAXITY, SHORT STATURE, AND MYOPIA (OMIM:617662)
Gene: GZF1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GZF1
Phenotype: Broad forehead (HP:0000337)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Micrognathia (HP:0000347)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Round face (HP:0000311)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Radial bowing (HP:0002986)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Breech presentation (HP:0001623)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Genu varum (HP:0002970)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GZF1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: GZF1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: GZF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: GZF1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Gene: GZF1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Short neck (HP:0000470)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: JOINT LAXITY, SHORT STATURE, AND MYOPIA (OMIM:617662)
Gene: GZF1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: GZF1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Hypoplastic fetal nasal bone (HP:0025707)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Cataract (HP:0000518)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Cataract (HP:0000518)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: GZF1
Phenotype: Cataract (HP:0000518)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GZF1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Proptosis (HP:0000520)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Glaucoma (HP:0000501)
Associated disease: JOINT LAXITY, SHORT STATURE, AND MYOPIA (OMIM:617662)
Gene: GZF1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Glaucoma (HP:0000501)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: GZF1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: GZF1
Phenotype: Visual loss (HP:0000572)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: GZF1
Phenotype: Esotropia (HP:0000565)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: JOINT LAXITY, SHORT STATURE, AND MYOPIA (OMIM:617662)
Gene: GZF1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: JOINT LAXITY, SHORT STATURE, AND MYOPIA (OMIM:617662)
Gene: GZF1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: GZF1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GZF1
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: GZF1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GZF1
Phenotype: Myopia (HP:0000545)
Associated disease: KNIEST DYSPLASIA (OMIM:156550)
Gene: GZF1
Phenotype: Myopia (HP:0000545)
Associated disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Gene: GZF1
Phenotype: Myopia (HP:0000545)
Associated disease: MARSHALL SYNDROME (OMIM:154780)
Gene: MTMR14
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Areflexia (HP:0001284)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Abnormality of the foot musculature (HP:0001436)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Neonatal asphyxia (HP:0012768)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Macrocephaly at birth (HP:0004488)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Thin ribs (HP:0000883)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)