TaoMedAI/RareMedData huggingface dataset:
Gene: SLC6A17
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Hand tremor (HP:0002378)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Small hand (HP:0200055)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Self-mutilation (HP:0000742)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Self-mutilation (HP:0000742)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Emotional lability (HP:0000712)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Emotional lability (HP:0000712)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Melanoma (HP:0002861)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Long philtrum (HP:0000343)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Long philtrum (HP:0000343)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Macrotia (HP:0000400)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: SLC6A17
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Gene: SLC6A17
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Gene: FLG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEELING SKIN SYNDROME 6 (OMIM:618084)
Gene: FLG2
Phenotype: Congenital onset (HP:0003577)
Associated disease: PEELING SKIN SYNDROME 6 (OMIM:618084)
Gene: FLG2
Phenotype: Parakeratosis (HP:0001036)
Associated disease: PEELING SKIN SYNDROME 6 (OMIM:618084)
Gene: FLG2
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: PEELING SKIN SYNDROME 6 (OMIM:618084)
Gene: FLG2
Phenotype: Pruritus (HP:0000989)
Associated disease: PEELING SKIN SYNDROME 6 (OMIM:618084)
Gene: FLG2
Phenotype: Dry skin (HP:0000958)
Associated disease: PEELING SKIN SYNDROME 6 (OMIM:618084)
Gene: FLG2
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: PEELING SKIN SYNDROME 6 (OMIM:618084)
Gene: FLG2
Phenotype: Scaling skin (HP:0040189)
Associated disease: PEELING SKIN SYNDROME 6 (OMIM:618084)
Gene: COA6
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Tachypnea (HP:0002789)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Hypothermia (HP:0002045)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Short chin (HP:0000331)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: COA6
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 (OMIM:616501)
Gene: PCARE
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 54 (OMIM:613428)
Gene: PCARE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Fundus atrophy (HP:0001099)
Associated disease: RETINITIS PIGMENTOSA 54 (OMIM:613428)
Gene: PCARE
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 54 (OMIM:613428)
Gene: PCARE
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 54 (OMIM:613428)
Gene: PCARE
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 54 (OMIM:613428)
Gene: PCARE
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 54 (OMIM:613428)
Gene: PCARE
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: RETINITIS PIGMENTOSA 54 (OMIM:613428)
Gene: PCARE
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 54 (OMIM:613428)
Gene: PCARE
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PCARE
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCARE
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BOLA3
Phenotype: Poor head control (HP:0002421)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Lethargy (HP:0001254)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Seizure (HP:0001250)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Ataxia (HP:0001251)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Spasticity (HP:0001257)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Increased CSF glycine concentration (HP:0500230)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Myoclonus (HP:0001336)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Reduced tissue glycine cleavage enzyme activity (HP:6000829)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Decreased activity of mitochondrial respiratory chain (HP:0008972)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Tachypnea (HP:0002789)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Vomiting (HP:0002013)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Infantile onset (HP:0003593)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Developmental regression (HP:0002376)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Death in infancy (HP:0001522)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: BOLA3
Phenotype: Visual impairment (HP:0000505)
Associated disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Gene: GRXCR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
Gene: GRXCR1
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
Gene: GRXCR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
Gene: GRXCR1
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
Gene: GRXCR1
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
Gene: LIN28B
Phenotype: Ataxia (HP:0001251)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Myoclonus (HP:0001336)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Bone pain (HP:0002653)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Elevated circulating catecholamine level (HP:0003334)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Opsoclonus (HP:0010543)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Horner syndrome (HP:0002277)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Elevated urinary catecholamine level (HP:0011976)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Elevated urinary homovanillic acid (HP:0011977)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Elevated urinary vanillylmandelic acid (HP:0011978)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Anemic pallor (HP:0001017)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Fever (HP:0001945)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Anemia (HP:0001903)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Antalgic gait (HP:0031955)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Neoplasm of the nervous system (HP:0004375)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Irritability (HP:0000737)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Hypertension (HP:0000822)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Periorbital ecchymosis with tarsal plate sparing (HP:0025553)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Fatigue (HP:0012378)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Proptosis (HP:0000520)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Weight loss (HP:0001824)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: LIN28B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Neuroblastoma (ORPHA:635)
Gene: IYD
Phenotype: Lethargy (HP:0001254)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Hypotonia (HP:0001252)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: IYD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: THYROID DYSHORMONOGENESIS 4 (OMIM:274800)
Gene: IYD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)