TaoMedAI/RareMedData huggingface dataset:
Gene: WDPCP
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: Ostravik-Lindemann-Solberg syndrome; Heart defect-tongue hamartoma-polysyndactyly syndrome (ORPHA:1338)
Gene: WDPCP
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY (OMIM:217085)
Gene: WDPCP
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Ostravik-Lindemann-Solberg syndrome; Heart defect-tongue hamartoma-polysyndactyly syndrome (ORPHA:1338)
Gene: WDPCP
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: WDPCP
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDPCP
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATL1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Hyperesthesia (HP:0100963)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Motor delay (HP:0001270)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Motor delay (HP:0001270)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Impaired ability to dress oneself (HP:0031060)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Hypohidrosis or hyperhidrosis (HP:0007550)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Rigidity (HP:0002063)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Spastic gait (HP:0002064)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Distal sensory impairment of all modalities (HP:0003409)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Paraplegia (HP:0010550)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Paresthesia (HP:0003401)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Insidious onset (HP:0003587)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Frequent falls (HP:0002359)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Penetrating foot ulcers (HP:0001026)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Progressive (HP:0003676)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Trophic changes related to pain (HP:0010834)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Limb pain (HP:0009763)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Cough (HP:0012735)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: EMG: slow motor conduction (HP:0100287)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Neuropathic arthropathy (HP:0002821)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Growth delay (HP:0001510)
Associated disease: Strümpell disease; Autosomal dominant spastic paraplegia type 3; SPG3A; Autosomal dominant spastic paraplegia type 3A (ORPHA:100984)
Gene: ATL1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: ATL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: ATL1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (OMIM:182600)
Gene: ATL1
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE ID (OMIM:613708)
Gene: YARS2
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Lethargy (HP:0001254)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Distichiasis (HP:0009743)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Progressive (HP:0003676)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Anemia (HP:0001903)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Myopathy (HP:0003198)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Short nose (HP:0003196)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Pallor (HP:0000980)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 (OMIM:613561)
Gene: YARS2
Phenotype: Kyphosis (HP:0002808)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: YARS2
Phenotype: High palate (HP:0000218)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)