TaoMedAI/RareMedData huggingface dataset:
Gene: EIF4A3
Phenotype: High palate (HP:0000218)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Hip subluxation (HP:0030043)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Low-set ears (HP:0000369)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Micrognathia (HP:0000347)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Microretrognathia (HP:0000308)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Prominent nose (HP:0000448)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Protruding ear (HP:0000411)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIEZO1
Phenotype: Hypochromia (HP:0032231)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Intestinal lymphangiectasia (HP:0002593)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Generalized edema (HP:0007430)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Genital edema (HP:0031188)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Scoliosis (HP:0002650)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Hepatitis (HP:0012115)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Periorbital edema (HP:0100539)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Pulmonary venous hypertension (HP:0030950)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Increased red cell hemolysis by shear stress (HP:0008269)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Congenital hemolytic anemia (HP:0004804)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Intermittent jaundice (HP:0001046)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Hemoglobinuria (HP:0003641)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Conjunctival icterus (HP:0032106)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Exercise-induced hemolysis (HP:0005535)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Schistocytosis (HP:0001981)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Nonspherocytic hemolytic anemia (HP:0001930)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Polycythemia (HP:0001901)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Short stature (HP:0004322)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Prune belly (HP:0004392)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Pallor (HP:0000980)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Jaundice (HP:0000952)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Edema (HP:0000969)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Edema (HP:0000969)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Epicanthus (HP:0000286)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Facial edema (HP:0000282)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Ascites (HP:0001541)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Abnormal circulating potassium concentration (HP:0011042)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Cupped ear (HP:0000378)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Portal vein thrombosis (HP:0030242)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Episodic fatigue (HP:0012431)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: PIEZO1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LYMPHATIC MALFORMATION 6 (OMIM:616843)
Gene: PIEZO1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA (OMIM:194380)
Gene: PIEZO1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PIEZO1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: MATR3
Phenotype: Bulbar signs (HP:0002483)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Dysarthria (HP:0001260)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Bowing of the vocal cords (HP:0008756)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Bowing of the vocal cords (HP:0008756)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)
Gene: MATR3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Vocal cord and pharyngeal distal myopathy; Distal myopathy with vocal cord weakness; VCPDM; MATR3-related distal myopathy (ORPHA:600)
Gene: MATR3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: MATR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 21 (OMIM:606070)