TaoMedAI/RareMedData huggingface dataset:
Gene: MECP2
Phenotype: Obesity (HP:0001513)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Total ophthalmoplegia (HP:0007824)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Neonatal seizure (HP:0032807)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Abnormality of chromosome segregation (HP:0002916)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Low-set ears (HP:0000369)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Tonic seizure (HP:0032792)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Anger (HP:0031473)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Focal EEG discharges with secondary generalization (HP:0011188)
Associated disease: PPM-X; Lindsay-Burn syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
Gene: MECP2
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Persistent head lag (HP:0032988)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Disturbance of facial expression (HP:0005324)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3 (OMIM:300496)
Gene: MECP2
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Macrotia (HP:0000400)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Limb apraxia (HP:0030217)
Associated disease: Rett syndrome (ORPHA:778)
Gene: MECP2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Short neck (HP:0000470)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Short foot (HP:0001773)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Short foot (HP:0001773)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Short foot (HP:0001773)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Pes cavus (HP:0001761)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 (OMIM:300055)
Gene: MECP2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Rett syndrome variant; Atypical RTT; Atypical Rett syndrome (ORPHA:3095)
Gene: MECP2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: RETT SYNDROME (OMIM:312750)
Gene: MECP2
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Ptosis (HP:0000508)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Ptosis (HP:0000508)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Gene: MECP2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Proximal Xq28 duplication syndrome; MECP2 duplication syndrome; X-linked intellectual disability syndrome, Lubs type (ORPHA:1762)
Gene: MECP2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MECP2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: MEF2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:608320)
Gene: MEF2A
Phenotype: Adult onset (HP:0003581)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:608320)
Gene: MEF2A
Phenotype: Chest pain (HP:0100749)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:608320)
Gene: MEF2A
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:608320)
Gene: MEF2A
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:608320)
Gene: MEF2A
Phenotype: Hypertension (HP:0000822)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:608320)
Gene: MEF2A
Phenotype: Obesity (HP:0001513)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:608320)
Gene: MEF2A
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:608320)
Gene: MEF2A
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:608320)
Gene: MEF2C
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Sporadic (HP:0003745)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Inability to walk (HP:0002540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Open mouth (HP:0000194)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Frontal cortical atrophy (HP:0006913)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Short nose (HP:0003196)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Broad forehead (HP:0000337)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Broad forehead (HP:0000337)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Short chin (HP:0000331)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Short philtrum (HP:0000322)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEF2C
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Gene: MEF2C
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Monosomy 5q14.3; 5q14.3 microdeletion syndrome; Del(5)(q14.3) (ORPHA:228384)
Gene: MEFV
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: MEFV
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: FAMILIAL MEDITERRANEAN FEVER (OMIM:249100)
Gene: MEFV
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Meningitis (HP:0001287)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Meningitis (HP:0001287)
Associated disease: FAMILIAL MEDITERRANEAN FEVER (OMIM:249100)
Gene: MEFV
Phenotype: Meningitis (HP:0001287)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Confusion (HP:0001289)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Peritonitis (HP:0002586)
Associated disease: FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT (OMIM:134610)
Gene: MEFV
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Peritonitis (HP:0002586)
Associated disease: FAMILIAL MEDITERRANEAN FEVER (OMIM:249100)
Gene: MEFV
Phenotype: Seizure (HP:0001250)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Seizure (HP:0001250)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Ataxia (HP:0001251)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: FAMILIAL MEDITERRANEAN FEVER (OMIM:249100)
Gene: MEFV
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Non-periodic recurrent fever (HP:0032324)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: MEFV
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT (OMIM:134610)
Gene: MEFV
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Proteinuria (HP:0000093)
Associated disease: FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT (OMIM:134610)
Gene: MEFV
Phenotype: Arthritis (HP:0001369)
Associated disease: FAMILIAL MEDITERRANEAN FEVER (OMIM:249100)
Gene: MEFV
Phenotype: Arthritis (HP:0001369)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Arthritis (HP:0001369)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Joint swelling (HP:0001386)
Associated disease: Intermittent hydrarthrosis (ORPHA:329967)
Gene: MEFV
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Epididymitis (HP:0000031)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Neoplasm (HP:0002664)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: MEFV
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL MEDITERRANEAN FEVER (OMIM:249100)
Gene: MEFV
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE (OMIM:608068)
Gene: MEFV
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT (OMIM:134610)
Gene: MEFV
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Superficial thrombophlebitis (HP:0002638)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Vasculitis (HP:0002633)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Vasculitis (HP:0002633)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Erythematous plaque (HP:0025474)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: MEFV
Phenotype: Pyoderma gangrenosum (HP:0025452)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: MEFV
Phenotype: Pyoderma gangrenosum (HP:0025452)
Associated disease: NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE (OMIM:608068)
Gene: MEFV
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Panuveitis (HP:0012121)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Asthenia (HP:0025406)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: FAMILIAL MEDITERRANEAN FEVER (OMIM:249100)
Gene: MEFV
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Nephropathy (HP:0000112)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Predominantly dermal neutrophilic infiltrate (HP:0031236)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: MEFV
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: MEFV
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Malabsorption (HP:0002024)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Malabsorption (HP:0002024)
Associated disease: Behçet disease (ORPHA:117)