TaoMedAI/RareMedData huggingface dataset:
Gene: HGD
Phenotype: Arthritis (HP:0001369)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Joint swelling (HP:0001386)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Prostatitis (HP:0000024)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Methemoglobinemia (HP:0012119)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Thickened Achilles tendon (HP:0004690)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Thickened Achilles tendon (HP:0004690)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Dark urine (HP:0040319)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Dark urine (HP:0040319)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Tendon rupture (HP:0100550)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Calcification of cartilage (HP:0100593)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Low back pain (HP:0003419)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Back pain (HP:0003418)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Limitation of knee mobility (HP:0010501)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Infantile onset (HP:0003593)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Adult onset (HP:0003581)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Cartilage destruction (HP:0100773)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Brown pigmentation of the conjunctiva (HP:6000365)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Black pigment gallstones (HP:0011982)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Intervertebral disk degeneration (HP:0008419)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Intervertebral disk calcification (HP:0005645)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Mitral valve calcification (HP:0004382)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Mitral valve calcification (HP:0004382)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Arthropathy (HP:0003040)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Ochronosis (HP:0030764)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Ochronosis (HP:0030764)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Hypertension (HP:0000822)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Dark cerumen (HP:6000025)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Dark cerumen (HP:6000025)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Oil-drop brown pigmentation of the corneal limbus (HP:6000027)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Arthralgia (HP:0002829)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Arthralgia (HP:0002829)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Kyphosis (HP:0002808)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Growth abnormality (HP:0001507)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Pigmentation of the sclera (HP:0007832)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Pigmentation of the sclera (HP:0007832)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Amyloidosis (HP:0011034)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Corneal astigmatism (HP:0025612)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Coronary artery calcification (HP:0001717)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Coronary artery calcification (HP:0001717)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Glaucoma (HP:0000501)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 39 (OMIM:608265)
Gene: HGF
Phenotype: Prelingual sensorineural hearing impairment (HP:0000399)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 39 (OMIM:608265)
Gene: HIC1
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Abnormal upper lip morphology (HP:0000177)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Growth delay (HP:0001510)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HIC1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Monosomy 17p13.3; Telomeric deletion 17p; Lissencephaly due to 17p13.3 deletion; Miller-Dieker syndrome (ORPHA:531)
Gene: HINT1
Phenotype: Split hand (HP:0001171)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Myotonia (HP:0002486)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Limb fasciculations (HP:0007289)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Percussion-induced rapid rolling muscle contractions (HP:0003760)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Myokymia (HP:0002411)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Myokymia (HP:0002411)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Areflexia (HP:0001284)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Exercise-induced leg cramps (HP:0008991)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Short third metatarsal (HP:0004686)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Distal sensory impairment of all modalities (HP:0003409)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Fasciculations (HP:0002380)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Progressive (HP:0003676)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Writer's cramp (HP:0002356)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Peroneal muscle atrophy (HP:0009049)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)
Gene: HINT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (OMIM:137200)
Gene: HINT1
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia; Autosomal recessive axonal neuropathy with neuromyotonia; ARAN-NM; ARCMT2-NM (ORPHA:324442)