TaoMedAI/RareMedData huggingface dataset:
Gene: SPTLC1
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: SPTLC1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Cough (HP:0012735)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC1
Phenotype: Dementia (HP:0000726)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Childhood onset (HP:0011463)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Upper-limb joint contracture (HP:0100360)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Impaired executive functioning (HP:0033051)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
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: SPTLC1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC1
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
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: SPTLC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
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: SPTLC1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
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: SPTLC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Pes cavus (HP:0001761)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Cataract (HP:0000518)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Foot osteomyelitis (HP:0001886)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Autoamputation of foot (HP:0001868)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SLC35A1
Phenotype: Poor speech (HP:0002465)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Ataxia (HP:0001251)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Proteinuria (HP:0000093)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Decreased platelet glycoprotein Ib (HP:0031156)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Abnormal megakaryocyte morphology (HP:0012143)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Pneumonia (HP:0002090)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Abnormal platelet granules (HP:0011883)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Cellulitis (HP:0100658)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Subcutaneous hemorrhage (HP:0001933)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Subcutaneous hemorrhage (HP:0001933)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Giant platelets (HP:0001902)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Pulmonary hemorrhage (HP:0040223)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Pulmonary hemorrhage (HP:0040223)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Short philtrum (HP:0000322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Webbed neck (HP:0000465)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Flat occiput (HP:0005469)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC35A1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: CMP-sialic acid transporter deficiency; Congenital disorder of glycosylation type IIf; CDG syndrome type IIf; SLC35A1-CDG; CDG2F; Congenital disorder of glycosylation type 2f; Carbohydrate deficient glycoprotein syndrome type IIf; CDG-IIf (ORPHA:238459)
Gene: SLC35A1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Gene: SLC19A2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Stroke (HP:0001297)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Stroke (HP:0001297)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Lethargy (HP:0001254)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Seizure (HP:0001250)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Ataxia (HP:0001251)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Diarrhea (HP:0002014)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Anorexia (HP:0002039)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Thiamine-responsive megaloblastic anemia (HP:0004860)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Headache (HP:0002315)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Short stature (HP:0004322)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Short stature (HP:0004322)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Young adult onset (HP:0011462)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Pallor (HP:0000980)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Paroxysmal atrial tachycardia (HP:0006671)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (OMIM:249270)
Gene: SLC19A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; Thiamine-responsive megaloblastic anemia syndrome; Rogers syndrome; Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss; TRMA (ORPHA:49827)
Gene: SLC19A2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC19A2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)