TaoMedAI/RareMedData huggingface dataset:
Gene: AGR2
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA (OMIM:620233)
Gene: AGR2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA (OMIM:620233)
Gene: AGR2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA (OMIM:620233)
Gene: AGR2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA (OMIM:620233)
Gene: AGR2
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA (OMIM:620233)
Gene: AGR2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA (OMIM:620233)
Gene: AGR2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA (OMIM:620233)
Gene: AGR2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA (OMIM:620233)
Gene: AGR2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA (OMIM:620233)
Gene: AGR2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA (OMIM:620233)
Gene: AGPAT2
Phenotype: Large hands (HP:0001176)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Reduced intraabdominal adipose tissue (HP:0025128)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Generalized muscular appearance from birth (HP:0003716)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Polyphagia (HP:0002591)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Reduced intrathoracic adipose tissue (HP:0003809)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Tall stature (HP:0000098)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Labial hypertrophy (HP:0000065)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Congenital onset (HP:0003577)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Hirsutism (HP:0001007)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Childhood onset (HP:0011463)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Insulin-resistant diabetes mellitus at puberty (HP:0000877)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Prominent umbilicus (HP:0001544)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Cystic angiomatosis of bone (HP:0002833)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Triangular face (HP:0000325)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Acute pancreatitis (HP:0001735)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Macrotia (HP:0000400)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: AGPAT2
Phenotype: Long foot (HP:0001833)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 (OMIM:608594)
Gene: SPTLC1
Phenotype: Bulbar signs (HP:0002483)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
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: SPTLC1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Chronic axonal neuropathy (HP:0007267)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Anarthria (HP:0002425)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Hypertonia (HP:0001276)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Head titubation (HP:0002599)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Ataxia (HP:0001251)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
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: SPTLC1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
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: SPTLC1
Phenotype: Inability to walk (HP:0002540)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Retrocollis (HP:0002544)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Axial dystonia (HP:0002530)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
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: SPTLC1
Phenotype: Acral ulceration (HP:0006121)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Dystonia (HP:0001332)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
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: SPTLC1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Scoliosis (HP:0002650)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
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: SPTLC1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Hereditary sensory and autonomic neuropathy type 1; Hereditary sensory and autonomic neuropathy type I; HSAN1 (ORPHA:36386)
Gene: SPTLC1
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: SPTLC1
Phenotype: Dysphagia (HP:0002015)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Gowers sign (HP:0003391)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Chorea (HP:0002072)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Steppage gait (HP:0003376)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
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: SPTLC1
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
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: SPTLC1
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Distal sensory impairment of all modalities (HP:0003409)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Clonus (HP:0002169)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
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: SPTLC1
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: SPTLC1
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: SPTLC1
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: SPTLC1
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: SPTLC1
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: SPTLC1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Scapular winging (HP:0003691)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Frequent falls (HP:0002359)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
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: SPTLC1
Phenotype: Hand tremor (HP:0002378)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
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: SPTLC1
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: SPTLC1
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: SPTLC1
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: SPTLC1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
Gene: SPTLC1
Phenotype: Angulated muscle fibers (HP:0034045)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
Phenotype: Nystagmus (HP:0000639)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Quadriceps muscle atrophy (HP:0009050)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE (OMIM:620285)
Gene: SPTLC1
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: SPTLC1
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Cachexia (HP:0004326)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Arm dystonia (HP:0031960)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPTLC1
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)