TaoMedAI/RareMedData huggingface dataset:
Gene: EMD
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Decreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Decreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Absent P wave (HP:0033122)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Back pain (HP:0003418)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Scapular winging (HP:0003691)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Slowly progressive (HP:0003677)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Palpitations (HP:0001962)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Childhood onset (HP:0011463)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Myopathy (HP:0003198)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Myopathy (HP:0003198)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Ichthyosis (HP:0008064)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Kyphosis (HP:0002808)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Obesity (HP:0001513)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Ventricular escape rhythm (HP:0005155)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Atrial arrhythmia (HP:0001692)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Absent muscle fiber emerin (HP:0030117)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Short neck (HP:0000470)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (OMIM:310300)
Gene: EMD
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMD
Phenotype: Ptosis (HP:0000508)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: EMP2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 10 (OMIM:615861)
Gene: EMP2
Phenotype: Podocyte foot process effacement (HP:0031266)
Associated disease: NEPHROTIC SYNDROME, TYPE 10 (OMIM:615861)
Gene: EMP2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NEPHROTIC SYNDROME, TYPE 10 (OMIM:615861)
Gene: EMP2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMP2
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 10 (OMIM:615861)
Gene: EMP2
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: NEPHROTIC SYNDROME, TYPE 10 (OMIM:615861)
Gene: EMP2
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: EMX2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: SCHIZENCEPHALY (OMIM:269160)
Gene: EMX2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SCHIZENCEPHALY (OMIM:269160)
Gene: EMX2
Phenotype: Schizencephaly (HP:0010636)
Associated disease: SCHIZENCEPHALY (OMIM:269160)
Gene: EN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Triangular tibia (HP:0031260)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Aplasia of the 3rd finger (HP:0009460)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Cerebellar agenesis (HP:0012642)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Gastrojejunal tube feeding in infancy (HP:0030884)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Talar aplasia (HP:0033977)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Persistent head lag (HP:0032988)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: EN1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: ENDOVE SYNDROME, LIMB-BRAIN TYPE (OMIM:619218)
Gene: ENG
Phenotype: Visual field defect (HP:0001123)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Cerebral arteriovenous malformation (HP:0002408)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Cerebral arteriovenous malformation (HP:0002408)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Seizure (HP:0001250)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Seizure (HP:0001250)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Seizure (HP:0001250)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Nail bed telangiectasia (HP:0001232)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Hematochezia (HP:0002573)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Hematochezia (HP:0002573)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: ENG
Phenotype: Rectal polyposis (HP:0100896)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: ENG
Phenotype: Fingerpad telangiectases (HP:0006107)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Dilatation of celiac artery (HP:0100858)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Clubbing (HP:0001217)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Cirrhosis (HP:0001394)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Arteriovenous fistulas of celiac and mesenteric vessels (HP:0002642)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Gastrointestinal arteriovenous malformation (HP:0002629)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Gastrointestinal arteriovenous malformation (HP:0002629)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Venous varicosities of celiac and mesenteric vessels (HP:0002626)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Gastrointestinal telangiectasia (HP:0002604)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Hemothorax (HP:0012151)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Palate telangiectasia (HP:0002707)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Exacerbated by pregnancy (HP:0032542)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Dyspnea (HP:0002094)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Migraine (HP:0002076)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Migraine (HP:0002076)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Duodenal polyposis (HP:0004783)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: ENG
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Hemoptysis (HP:0002105)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Dilatation of mesenteric artery (HP:0011934)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Melena (HP:0002249)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Hematemesis (HP:0002248)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Peripheral arteriovenous fistula (HP:0100784)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)