TaoMedAI/RareMedData huggingface dataset:
Gene: EPB41
Phenotype: Jaundice (HP:0000952)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Jaundice (HP:0000952)
Associated disease: ELLIPTOCYTOSIS 1 (OMIM:611804)
Gene: EPB41
Phenotype: Fatigue (HP:0012378)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ELLIPTOCYTOSIS 1 (OMIM:611804)
Gene: EPB41
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: ELLIPTOCYTOSIS 1 (OMIM:611804)
Gene: EPB41
Phenotype: Abnormal erythrocyte morphology (HP:0001877)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41L1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: High forehead (HP:0000348)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB41L1
Phenotype: Tarsal osteovalgus (HP:0001775)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
Gene: EPB42
Phenotype: Chills (HP:0025143)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Ataxia (HP:0001251)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPHEROCYTOSIS, TYPE 5 (OMIM:612690)
Gene: EPB42
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Myalgia (HP:0003326)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Abnormal leukocyte count (HP:0011893)
Associated disease: SPHEROCYTOSIS, TYPE 5 (OMIM:612690)
Gene: EPB42
Phenotype: Abnormal platelet count (HP:0011873)
Associated disease: SPHEROCYTOSIS, TYPE 5 (OMIM:612690)
Gene: EPB42
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Spontaneous hemolytic crises (HP:0005525)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: SPHEROCYTOSIS, TYPE 5 (OMIM:612690)
Gene: EPB42
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Fever (HP:0001945)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: SPHEROCYTOSIS, TYPE 5 (OMIM:612690)
Gene: EPB42
Phenotype: Anemia (HP:0001903)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Gout (HP:0001997)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Spherocytosis (HP:0004444)
Associated disease: SPHEROCYTOSIS, TYPE 5 (OMIM:612690)
Gene: EPB42
Phenotype: Spherocytosis (HP:0004444)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Jaundice (HP:0000952)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Jaundice (HP:0000952)
Associated disease: SPHEROCYTOSIS, TYPE 5 (OMIM:612690)
Gene: EPB42
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Growth delay (HP:0001510)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: EPB42
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SPHEROCYTOSIS, TYPE 5 (OMIM:612690)
Gene: EPB42
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: SPHEROCYTOSIS, TYPE 5 (OMIM:612690)
Gene: EPHB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 22 (OMIM:618462)
Gene: EPHB2
Phenotype: Prostate cancer (HP:0012125)
Associated disease: PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (OMIM:603688)
Gene: EPHB2
Phenotype: Bleeding with minor or no trauma (HP:0011889)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 22 (OMIM:618462)
Gene: EPHB2
Phenotype: Impaired arachidonic acid-induced platelet aggregation (HP:0011870)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 22 (OMIM:618462)
Gene: EPHB2
Phenotype: Impaired ristocetin-induced platelet aggregation (HP:0011871)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 22 (OMIM:618462)
Gene: EPHB2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 22 (OMIM:618462)
Gene: EPHB2
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 22 (OMIM:618462)
Gene: EPHB2
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 22 (OMIM:618462)
Gene: EPHB2
Phenotype: Subcutaneous hemorrhage (HP:0001933)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 22 (OMIM:618462)
Gene: EPHB2
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (OMIM:603688)
Gene: EPHB2
Phenotype: Childhood onset (HP:0011463)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 22 (OMIM:618462)
Gene: EPHB2
Phenotype: Excessive bleeding from superficial cuts (HP:0030138)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 22 (OMIM:618462)
Gene: EPHB2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 22 (OMIM:618462)
Gene: EPHB4
Phenotype: Capillary malformation (HP:0025104)
Associated disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 (OMIM:618196)
Gene: EPHB4
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 (OMIM:618196)
Gene: EPHB4
Phenotype: Laryngeal edema (HP:0012027)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 (OMIM:618196)
Gene: EPHB4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Varicose veins (HP:0002619)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Vein of Galen aneurysmal malformation; Vein of Galen arteriovenous malformations (ORPHA:1053)
Gene: EPHB4
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Cobblestone-like hyperkeratosis (HP:0031288)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Lymph node hypoplasia (HP:0002732)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Respiratory distress (HP:0002098)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Infantile onset (HP:0003593)
Associated disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 (OMIM:618196)
Gene: EPHB4
Phenotype: Congenital onset (HP:0003577)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Pleural effusion (HP:0002202)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Peripheral arteriovenous fistula (HP:0100784)
Associated disease: Vein of Galen aneurysmal malformation; Vein of Galen arteriovenous malformations (ORPHA:1053)
Gene: EPHB4
Phenotype: Telangiectasia (HP:0001009)
Associated disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 (OMIM:618196)
Gene: EPHB4
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Lymphedema (HP:0001004)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Vein of Galen aneurysmal malformation; Vein of Galen arteriovenous malformations (ORPHA:1053)
Gene: EPHB4
Phenotype: Cellulitis (HP:0100658)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Skin erosion (HP:0200041)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Angiosarcoma (HP:0200058)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Skin dimple (HP:0010781)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Pedal edema (HP:0010741)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Anemia (HP:0001903)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Vein of Galen aneurysmal malformation (HP:0030713)
Associated disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 (OMIM:618196)
Gene: EPHB4
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Abdominal distention (HP:0003270)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Edema (HP:0000969)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Facial edema (HP:0000282)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Facial edema (HP:0000282)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Ascites (HP:0001541)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Absence of lymph node germinal center (HP:0002849)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Peripheral edema (HP:0012398)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHATIC MALFORMATION 7 (OMIM:617300)
Gene: EPHB4
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: Meige disease; Hereditary lymphedema type II; Meige lymphedema (ORPHA:90186)
Gene: EPHB4
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHB4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: EPHX2
Phenotype: Xanthelasma (HP:0001114)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: EPHX2
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: EPHX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: EPHX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: EPHX2
Phenotype: Corneal arcus (HP:0001084)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: EPHX2
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: EPHX2
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 (OMIM:143890)
Gene: CLN8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: Mental deterioration (HP:0001268)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: Seizure (HP:0001250)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Seizure (HP:0001250)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Ataxia (HP:0001251)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Ataxia (HP:0001251)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)
Gene: CLN8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Inability to walk (HP:0002540)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NCL, Northern epilepsy variant; Neuronal ceroid lipofuscinosis, Northern epilepsy variant; CLN8 disease, Northern epilepsy variant; Progressive epilepsy-intellectual disability syndrome, Finnish type; Northern epilepsy (ORPHA:1947)
Gene: CLN8
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8 (OMIM:600143)
Gene: CLN8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT (OMIM:610003)