TaoMedAI/RareMedData huggingface dataset:
Gene: NOTCH2NLC
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Tremor (HP:0001337)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Tremor (HP:0001337)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 6 (OMIM:618866)
Gene: NOTCH2NLC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Scoliosis (HP:0002650)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Tibialis muscle weakness (HP:0008963)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Internally nucleated skeletal muscle fibers (HP:0031237)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Dysphagia (HP:0002015)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Rigidity (HP:0002063)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Postural tremor (HP:0002174)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 6 (OMIM:618866)
Gene: NOTCH2NLC
Phenotype: Paraplegia (HP:0010550)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Middle age onset (HP:0003596)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Infantile onset (HP:0003593)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Adult onset (HP:0003581)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 6 (OMIM:618866)
Gene: NOTCH2NLC
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Abnormal morphology of musculature of pharynx (HP:0430015)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Head tremor (HP:0002346)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 6 (OMIM:618866)
Gene: NOTCH2NLC
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Nystagmus (HP:0000639)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Miosis (HP:0000616)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Miosis (HP:0000616)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Photophobia (HP:0000613)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Abnormality of the pharynx (HP:0000600)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Dementia (HP:0000726)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Dementia (HP:0000726)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Atypical behavior (HP:0000708)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Young adult onset (HP:0011462)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: High palate (HP:0000218)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Progressive ptosis (HP:0007838)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Kinetic tremor (HP:0030186)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 6 (OMIM:618866)
Gene: NOTCH2NLC
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Abnormality of facial musculature (HP:0000301)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Vocal tremor (HP:0012477)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 6 (OMIM:618866)
Gene: NOTCH2NLC
Phenotype: Abnormality of orbicularis oris muscle (HP:3000010)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Abnormality of masseter muscle (HP:3000005)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Weight loss (HP:0001824)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Ptosis (HP:0000508)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Areflexia (HP:0001284)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Ataxia (HP:0001251)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: Bowing of the vocal cords (HP:0008756)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Tremor (HP:0001337)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Tibialis muscle weakness (HP:0008963)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Dysphagia (HP:0002015)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Paraplegia (HP:0010550)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Adult onset (HP:0003581)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Abnormal morphology of musculature of pharynx (HP:0430015)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: High palate (HP:0000218)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Progressive ptosis (HP:0007838)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Abnormality of facial musculature (HP:0000301)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Abnormality of orbicularis oris muscle (HP:3000010)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Abnormality of masseter muscle (HP:3000005)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Weight loss (HP:0001824)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Ptosis (HP:0000508)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: NUTM2B-AS1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NUTM2B-AS1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1 (OMIM:618637)
Gene: HELLPAR
Phenotype: Generalized edema (HP:0007430)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Hypotension (HP:0002615)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Epigastric pain (HP:0410019)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Nausea (HP:0002018)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Vomiting (HP:0002013)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: HELLPAR
Phenotype: Back pain (HP:0003418)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)