TaoMedAI/RareMedData huggingface dataset:
Gene: B3GLCT
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Round face (HP:0000311)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Round face (HP:0000311)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Microcornea (HP:0000482)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Broad neck (HP:0000475)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Short neck (HP:0000470)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Short neck (HP:0000470)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Webbed neck (HP:0000465)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Webbed neck (HP:0000465)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Short foot (HP:0001773)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Short foot (HP:0001773)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Broad foot (HP:0001769)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Protruding ear (HP:0000411)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Pes cavus (HP:0001761)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Cataract (HP:0000518)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Cataract (HP:0000518)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Ptosis (HP:0000508)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Visual impairment (HP:0000505)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Glaucoma (HP:0000501)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Glaucoma (HP:0000501)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Short toe (HP:0001831)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Short toe (HP:0001831)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Prominent forehead (HP:0011220)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Myopia (HP:0000545)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: RDH12
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEBER CONGENITAL AMAUROSIS 13 (OMIM:612712)
Gene: RDH12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEBER CONGENITAL AMAUROSIS 13 (OMIM:612712)
Gene: RDH12
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: LEBER CONGENITAL AMAUROSIS 13 (OMIM:612712)
Gene: RDH12
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEBER CONGENITAL AMAUROSIS 13 (OMIM:612712)
Gene: RDH12
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: LEBER CONGENITAL AMAUROSIS 13 (OMIM:612712)
Gene: RDH12
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: LEBER CONGENITAL AMAUROSIS 13 (OMIM:612712)
Gene: RDH12
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: LEBER CONGENITAL AMAUROSIS 13 (OMIM:612712)
Gene: RDH12
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RDH12
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: LEBER CONGENITAL AMAUROSIS 13 (OMIM:612712)
Gene: RDH12
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: RDH12
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH12
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GSC
Phenotype: Simple ear (HP:0020206)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Delayed ossification of pubic rami (HP:0008785)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Narrow mouth (HP:0000160)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Congenital onset (HP:0003577)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Hypotelorism (HP:0000601)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GSC
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GSC
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES (OMIM:602471)
Gene: GSC
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)