TaoMedAI/RareMedData huggingface dataset:
Gene: HCN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 (OMIM:618482)
Gene: HCN1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Gene: HCN1
Phenotype: Atypical absence status epilepticus (HP:0011151)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Pes planus (HP:0001763)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: HCN1
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: HCN1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: DNAAF3
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Congenital onset (HP:0003577)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Infertility (HP:0000789)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Absent inner and outer dynein arms (HP:0012259)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Sinusitis (HP:0000246)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Otitis media (HP:0000388)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
Gene: DNAAF3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: DNAAF3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: RILPL1
Phenotype: Poor speech (HP:0002465)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Autophagic vacuoles (HP:0003736)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Areflexia (HP:0001284)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Areflexia (HP:0001284)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Dysarthria (HP:0001260)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Bowing of the vocal cords (HP:0008756)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Tremor (HP:0001337)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Tibialis muscle weakness (HP:0008963)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Dysphagia (HP:0002015)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Postural tremor (HP:0002174)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Paraplegia (HP:0010550)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Abnormal morphology of musculature of pharynx (HP:0430015)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Diplopia (HP:0000651)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Young adult onset (HP:0011462)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: High palate (HP:0000218)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: High palate (HP:0000218)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Progressive ptosis (HP:0007838)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Abnormality of facial musculature (HP:0000301)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Abnormality of orbicularis oris muscle (HP:3000010)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Abnormality of masseter muscle (HP:3000005)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Weight loss (HP:0001824)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Ptosis (HP:0000508)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: RILPL1
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: RILPL1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Gene: PADI6
Phenotype: Preimplantation lethality (HP:0032479)
Associated disease: PREIMPLANTATION EMBRYONIC LETHALITY 2 (OMIM:617234)
Gene: PADI6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREIMPLANTATION EMBRYONIC LETHALITY 2 (OMIM:617234)
Gene: PADI6
Phenotype: Infertility (HP:0000789)
Associated disease: PREIMPLANTATION EMBRYONIC LETHALITY 2 (OMIM:617234)
Gene: IRF2BP2
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 14 (OMIM:617765)
Gene: IRF2BP2
Phenotype: Chronic infection (HP:0031035)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 14 (OMIM:617765)
Gene: IRF2BP2
Phenotype: Bone pain (HP:0002653)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Productive cough (HP:0031245)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 14 (OMIM:617765)
Gene: IRF2BP2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 14 (OMIM:617765)
Gene: IRF2BP2
Phenotype: Addictive alcohol use (HP:0030955)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Anorexia (HP:0002039)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Gangrene (HP:0100758)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Vertigo (HP:0002321)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Metrorrhagia (HP:0100608)
Associated disease: Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants; Acute myeloblastic leukemia 3; APML; Acute promyelocytic leukemia; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; AML M3 (ORPHA:520)
Gene: IRF2BP2
Phenotype: Decreased specific antibody response to vaccination (HP:0032140)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 14 (OMIM:617765)