TaoMedAI/RareMedData huggingface dataset:
Gene: RAB3GAP2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MARTSOLF SYNDROME (OMIM:212720)
Gene: RAB3GAP2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAB3GAP2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: RAB3GAP2
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: WARBURG MICRO SYNDROME 2 (OMIM:614225)
Gene: RAD54B
Phenotype: Lymphoma (HP:0002665)
Associated disease: LYMPHOMA, NON-HODGKIN, FAMILIAL (OMIM:605027)
Gene: RAD54B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: RAD54B
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: RAD54B
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: RAD54B
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: RAD54B
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: RAD54B
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: RAD54B
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: CFAP45
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFAP45
Phenotype: Primum atrial septal defect (HP:0010445)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Congenital onset (HP:0003577)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFAP45
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFAP45
Phenotype: Partial atrioventricular canal defect (HP:0011577)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFAP45
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFAP45
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Asthenopia (HP:0031590)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Polysplenia (HP:0001748)
Associated disease: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY (OMIM:619608)
Gene: CFAP45
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CIZ1
Phenotype: Panic attack (HP:0025269)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Axial dystonia (HP:0002530)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Limb tremor (HP:0200085)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Writer's cramp (HP:0002356)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Head tremor (HP:0002346)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Focal dystonia (HP:0004373)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Neck muscle hypertrophy (HP:0012893)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Hyperventilation (HP:0002883)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: CIZ1
Phenotype: Torticollis (HP:0000473)
Associated disease: Adult-onset cervical dystonia, DYT23 type; Dystonia 23; DYT23 (ORPHA:420492)
Gene: FBXO7
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Spasticity (HP:0001257)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Dystonia (HP:0001332)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Myoclonus (HP:0001336)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Dysphagia (HP:0002015)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Intention tremor (HP:0002080)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Rigidity (HP:0002063)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Gait imbalance (HP:0002141)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Babinski sign (HP:0003487)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Babinski sign (HP:0003487)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Postural instability (HP:0002172)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Dementia (HP:0000726)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Childhood onset (HP:0011463)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Monotonic speech (HP:0031435)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Monotonic speech (HP:0031435)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Hypomimic face (HP:0000338)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Scissor gait (HP:0012407)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FBXO7
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Gene: FBXO7
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Gene: FSCN2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 30 (OMIM:607921)
Gene: FSCN2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: RETINITIS PIGMENTOSA 30 (OMIM:607921)
Gene: FSCN2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 30 (OMIM:607921)
Gene: FSCN2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 30 (OMIM:607921)
Gene: FSCN2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 30 (OMIM:607921)
Gene: FSCN2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 30 (OMIM:607921)
Gene: FSCN2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 30 (OMIM:607921)
Gene: FSCN2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: RETINITIS PIGMENTOSA 30 (OMIM:607921)
Gene: FSCN2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: FSCN2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FSCN2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LMOD1
Phenotype: Fetal megacystis (HP:0010956)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 (OMIM:619362)
Gene: LMOD1
Phenotype: Sepsis (HP:0100806)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 (OMIM:619362)
Gene: LMOD1
Phenotype: Sepsis (HP:0100806)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Neonatal death (HP:0003811)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 (OMIM:619362)
Gene: LMOD1
Phenotype: Hydroureter (HP:0000072)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 (OMIM:619362)
Gene: LMOD1
Phenotype: Hydroureter (HP:0000072)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Megacystis (HP:0000021)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 (OMIM:619362)
Gene: LMOD1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 (OMIM:619362)
Gene: LMOD1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Neoplasm of the heart (HP:0100544)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Hypoperistalsis (HP:0100771)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Microcolon (HP:0004388)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Microcolon (HP:0004388)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 (OMIM:619362)
Gene: LMOD1
Phenotype: Second trimester onset (HP:0034198)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 (OMIM:619362)
Gene: LMOD1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 (OMIM:619362)
Gene: LMOD1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; MMIHS; Berdon syndrome; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Gene: LMOD1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 (OMIM:619362)