TaoMedAI/RareMedData huggingface dataset:
Gene: VAPB
Phenotype: Muscle spasm (HP:0003394)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Muscle spasm (HP:0003394)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Gowers sign (HP:0003391)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Postural tremor (HP:0002174)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Fasciculations (HP:0002380)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Fasciculations (HP:0002380)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Young adult onset (HP:0011462)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:608627)
Gene: VAPB
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Fatigue (HP:0012378)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: VAPB
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Late young adult onset (HP:0025710)
Associated disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE (OMIM:182980)
Gene: VAPB
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: VAPB
Phenotype: Talipes (HP:0001883)
Associated disease: Finkel disease; Autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK; Autosomal dominant adult-onset proximal spinal muscular atrophy; Autosomal dominant adult-onset proximal SMA (ORPHA:209335)
Gene: LRAT
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: LRAT
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Macular coloboma (HP:0001116)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Falls (HP:0002527)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: LRAT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: LRAT
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: LRAT
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Postural instability (HP:0002172)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Unsteady gait (HP:0002317)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Nystagmus (HP:0000639)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Photophobia (HP:0000613)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Photophobia (HP:0000613)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: Blurred vision (HP:0000622)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
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: LRAT
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: LRAT
Phenotype: Nyctalopia (HP:0000662)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Nyctalopia (HP:0000662)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
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: LRAT
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: LRAT
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Pallor (HP:0000980)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
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: LRAT
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
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: LRAT
Phenotype: Granular macular appearance (HP:0007793)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
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: LRAT
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: LRAT
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
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: LRAT
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
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: LRAT
Phenotype: Congenital blindness (HP:0007875)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: LRAT
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
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: LRAT
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
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: LRAT
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: LRAT
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LRAT
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: LRAT
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Gene: LRAT
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: LRAT
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: LRAT
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)