TaoMedAI/RareMedData huggingface dataset:
Gene: TCAP
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Difficulty running (HP:0009046)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7 (OMIM:601954)
Gene: TCAP
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TCAP
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TCAP
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TCAP
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TCAP
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 (OMIM:607487)
Gene: TCAP
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TCAP
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TCAP
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: TCAP
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 (OMIM:607487)
Gene: TCAP
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 (OMIM:607487)
Gene: CDK10
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Seizure (HP:0001250)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Nevus flammeus of the forehead (HP:0007413)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Malar rash (HP:0025300)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: High, narrow palate (HP:0002705)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Broad-based gait (HP:0002136)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Congenital onset (HP:0003577)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Small joint hypermobilty (HP:0430046)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Small hand (HP:0200055)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Broad hallux (HP:0010055)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Synophrys (HP:0000664)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Decreased body weight (HP:0004325)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Short stature (HP:0004322)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Hyperactivity (HP:0000752)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Sacral dimple (HP:0000960)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Decreased head circumference (HP:0040195)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Epicanthus (HP:0000286)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Malar flattening (HP:0000272)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Clinodactyly (HP:0030084)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Macrodontia (HP:0001572)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Microcephaly (HP:0000252)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Brachycephaly (HP:0000248)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: High palate (HP:0000218)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Low-set ears (HP:0000369)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Long philtrum (HP:0000343)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Hypertelorism (HP:0000316)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Short chin (HP:0000331)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Triangular face (HP:0000325)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Pointed chin (HP:0000307)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Strabismus (HP:0000486)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Torticollis (HP:0000473)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Pes planus (HP:0001763)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: CDK10
Phenotype: Telecanthus (HP:0000506)
Associated disease: AL KAISSI SYNDROME (OMIM:617694)
Gene: DEGS1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Dysmetria (HP:0001310)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Babinski sign (HP:0003487)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Progressive (HP:0003676)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Abnormal motor nerve conduction velocity (HP:0040131)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: DEGS1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Gene: YARS1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Sepsis (HP:0100806)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Macular atrophy (HP:0007401)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Vomiting (HP:0002013)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Multiple pulmonary cysts (HP:0005948)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Axonal regeneration (HP:0003450)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Tube feeding (HP:0033454)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Anemia (HP:0001903)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Difficulty running (HP:0009046)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Profound hearing impairment (HP:0012715)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Full cheeks (HP:0000293)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: High palate (HP:0000218)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Growth delay (HP:0001510)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Macronodular cirrhosis (HP:0006577)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Premature birth (HP:0001622)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C (OMIM:608323)
Gene: YARS1
Phenotype: Polysplenia (HP:0001748)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)
Gene: YARS1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 (OMIM:619418)