TaoMedAI/RareMedData huggingface dataset:
Gene: RNU4ATAC
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DUX4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Seizure (HP:0001250)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Pectoralis amyotrophy (HP:0012037)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Scoliosis (HP:0002650)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Steppage gait (HP:0003376)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Camptocormia (HP:0100595)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Scapular winging (HP:0003691)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Frequent falls (HP:0002359)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Beevor's sign (HP:0030664)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Mask-like facies (HP:0000298)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Nocturnal lagophthalmos (HP:0030002)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Straight clavicles (HP:0006587)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Keratitis (HP:0000491)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Visual loss (HP:0000572)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Chronic pain (HP:0012532)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DUX4
Phenotype: Retinal detachment (HP:0000541)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: PET117
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Increased CSF alanine concentration (HP:0500233)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Bradykinesia (HP:0002067)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Babinski sign (HP:0003487)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Hypokinesia (HP:0002375)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: PET117
Phenotype: Increased mitochondrial number (HP:0040014)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Gene: OCLN
Phenotype: Seizure (HP:0001250)
Associated disease: Baraitser-Brett-Piesowicz syndrome; Bilateral band-like calcification with polymicrogyria; Baraitser-Reardon syndrome; Congenital intrauterine infection-like syndrome; Pseudo-TORCH syndrome; BLC-PMG; Microcephaly-intracranial calcification-intellectual disability syndrome (ORPHA:1229)
Gene: OCLN
Phenotype: Seizure (HP:0001250)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Hypotonia (HP:0001252)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Spasticity (HP:0001257)
Associated disease: Baraitser-Brett-Piesowicz syndrome; Bilateral band-like calcification with polymicrogyria; Baraitser-Reardon syndrome; Congenital intrauterine infection-like syndrome; Pseudo-TORCH syndrome; BLC-PMG; Microcephaly-intracranial calcification-intellectual disability syndrome (ORPHA:1229)
Gene: OCLN
Phenotype: Spasticity (HP:0001257)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Baraitser-Brett-Piesowicz syndrome; Bilateral band-like calcification with polymicrogyria; Baraitser-Reardon syndrome; Congenital intrauterine infection-like syndrome; Pseudo-TORCH syndrome; BLC-PMG; Microcephaly-intracranial calcification-intellectual disability syndrome (ORPHA:1229)
Gene: OCLN
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Baraitser-Brett-Piesowicz syndrome; Bilateral band-like calcification with polymicrogyria; Baraitser-Reardon syndrome; Congenital intrauterine infection-like syndrome; Pseudo-TORCH syndrome; BLC-PMG; Microcephaly-intracranial calcification-intellectual disability syndrome (ORPHA:1229)
Gene: OCLN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Dystonia (HP:0001332)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Lissencephaly (HP:0001339)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Pachygyria (HP:0001302)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Cleft lip (HP:0410030)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Decreased liver function (HP:0001410)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Baraitser-Brett-Piesowicz syndrome; Bilateral band-like calcification with polymicrogyria; Baraitser-Reardon syndrome; Congenital intrauterine infection-like syndrome; Pseudo-TORCH syndrome; BLC-PMG; Microcephaly-intracranial calcification-intellectual disability syndrome (ORPHA:1229)
Gene: OCLN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Infantile onset (HP:0003593)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Nystagmus (HP:0000639)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Baraitser-Brett-Piesowicz syndrome; Bilateral band-like calcification with polymicrogyria; Baraitser-Reardon syndrome; Congenital intrauterine infection-like syndrome; Pseudo-TORCH syndrome; BLC-PMG; Microcephaly-intracranial calcification-intellectual disability syndrome (ORPHA:1229)
Gene: OCLN
Phenotype: Jaundice (HP:0000952)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Petechiae (HP:0000967)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Microcephaly (HP:0000252)
Associated disease: Baraitser-Brett-Piesowicz syndrome; Bilateral band-like calcification with polymicrogyria; Baraitser-Reardon syndrome; Congenital intrauterine infection-like syndrome; Pseudo-TORCH syndrome; BLC-PMG; Microcephaly-intracranial calcification-intellectual disability syndrome (ORPHA:1229)
Gene: OCLN
Phenotype: Microcephaly (HP:0000252)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: High palate (HP:0000218)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Low-set ears (HP:0000369)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Sloping forehead (HP:0000340)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Long philtrum (HP:0000343)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Microretrognathia (HP:0000308)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Cataract (HP:0000518)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: OCLN
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Gene: MYZAP
Phenotype: Increased circulating NT-proBNP concentration (HP:0031185)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Dyspnea (HP:0002094)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Juvenile onset (HP:0003621)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Palpitations (HP:0001962)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Moderately reduced left ventricular ejection fraction (HP:0012665)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Mildly reduced left ventricular ejection fraction (HP:0012663)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Young adult onset (HP:0011462)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Myocardial fibrosis (HP:0001685)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Congestive heart failure (HP:0001635)
Associated disease:  (OMIM:620894)
Gene: MYZAP
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease:  (OMIM:620894)
Gene: NOTCH2NLC
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 6 (OMIM:618866)
Gene: NOTCH2NLC
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Hypertonia (HP:0001276)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 6 (OMIM:618866)
Gene: NOTCH2NLC
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Areflexia (HP:0001284)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Syncope (HP:0001279)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Seizure (HP:0001250)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Seizure (HP:0001250)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Ataxia (HP:0001251)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Ataxia (HP:0001251)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Dysarthria (HP:0001260)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Dysarthria (HP:0001260)
Associated disease: Neuronal intranuclear inclusion disease (ORPHA:2289)
Gene: NOTCH2NLC
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)
Gene: NOTCH2NLC
Phenotype: Bowing of the vocal cords (HP:0008756)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: NOTCH2NLC
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 3 (OMIM:619473)
Gene: NOTCH2NLC
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: NEURONAL INTRANUCLEAR INCLUSION DISEASE (OMIM:603472)