TaoMedAI/RareMedData huggingface dataset:
Gene: LCA5
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Macular coloboma (HP:0001116)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEBER CONGENITAL AMAUROSIS 5 (OMIM:604537)
Gene: LCA5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Postural instability (HP:0002172)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEBER CONGENITAL AMAUROSIS 5 (OMIM:604537)
Gene: LCA5
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Unsteady gait (HP:0002317)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: High hypermetropia (HP:0008499)
Associated disease: LEBER CONGENITAL AMAUROSIS 5 (OMIM:604537)
Gene: LCA5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEBER CONGENITAL AMAUROSIS 5 (OMIM:604537)
Gene: LCA5
Phenotype: Nystagmus (HP:0000639)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Photophobia (HP:0000613)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Blurred vision (HP:0000622)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Abnormal corneal endothelium morphology (HP:0011488)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Posterior synechiae of the anterior chamber (HP:0011484)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Granular macular appearance (HP:0007793)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Abnormal pupillary light reflex (HP:0007695)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Visual impairment (HP:0000505)
Associated disease: LEBER CONGENITAL AMAUROSIS 5 (OMIM:604537)
Gene: LCA5
Phenotype: Visual impairment (HP:0000505)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Exotropia (HP:0000577)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Visual loss (HP:0000572)
Associated disease: LEBER CONGENITAL AMAUROSIS 5 (OMIM:604537)
Gene: LCA5
Phenotype: Retinal detachment (HP:0000541)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Hypermetropia (HP:0000540)
Associated disease: LEBER CONGENITAL AMAUROSIS 5 (OMIM:604537)
Gene: LCA5
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: LEBER CONGENITAL AMAUROSIS 5 (OMIM:604537)
Gene: LCA5
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Color vision defect (HP:0000551)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LCA5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LCA5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LCA5
Phenotype: Myopia (HP:0000545)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: PKD1L1
Phenotype: Right aortic arch (HP:0012020)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PKD1L1
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Congenital onset (HP:0003577)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Aortopulmonary collateral arteries (HP:0031834)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PKD1L1
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PKD1L1
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Atrial situs inversus (HP:0011538)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Congenitally corrected transposition of the great arteries (HP:0011540)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Unbalanced atrioventricular canal defect (HP:0011579)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PKD1L1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PKD1L1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: HETEROTAXY, VISCERAL, 8, AUTOSOMAL (OMIM:617205)
Gene: PKD1L1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: BMPER
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: DSD; Diaphanospondylodysostosis (ORPHA:66637)
Gene: BMPER
Phenotype: Nephroblastomatosis (HP:0008643)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Hypotonia (HP:0001252)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Nephrogenic rest (HP:0100880)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Delayed vertebral ossification (HP:0031096)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Cleft palate (HP:0000175)
Associated disease: DSD; Diaphanospondylodysostosis (ORPHA:66637)
Gene: BMPER
Phenotype: Cleft palate (HP:0000175)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Respiratory distress (HP:0002098)
Associated disease: DSD; Diaphanospondylodysostosis (ORPHA:66637)
Gene: BMPER
Phenotype: Respiratory distress (HP:0002098)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Lumbosacral meningocele (HP:0200133)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Abnormal liver lobulation (HP:0100752)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: DSD; Diaphanospondylodysostosis (ORPHA:66637)
Gene: BMPER
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Absent in utero ossification of vertebral bodies (HP:0008435)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: DSD; Diaphanospondylodysostosis (ORPHA:66637)
Gene: BMPER
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Abnormal vertebral segmentation and fusion (HP:0005640)
Associated disease: DSD; Diaphanospondylodysostosis (ORPHA:66637)
Gene: BMPER
Phenotype: Cystic renal dysplasia (HP:0000800)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BMPER
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Late first trimester onset (HP:0034199)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Second trimester onset (HP:0034198)
Associated disease: DIAPHANOSPONDYLODYSOSTOSIS (OMIM:608022)
Gene: BMPER
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BMPER
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)