TaoMedAI/RareMedData huggingface dataset:
Gene: SDHB
Phenotype: Abnormal atrioventricular conduction (HP:0005150)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHB
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Tinnitus (HP:0000360)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHB
Phenotype: Tachycardia (HP:0001649)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHB
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHB
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHB
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHB
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHB
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHB
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Cataract (HP:0000518)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Aniridia (HP:0000526)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Weight loss (HP:0001824)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Weight loss (HP:0001824)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHB
Phenotype: Weight loss (HP:0001824)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHB
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHB
Phenotype: Myopia (HP:0000545)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Isolated succinate dehydrogenase deficiency; Isolated mitochondrial respiratory chain complex II deficiency; Isolated succinate-CoQ reductase deficiency; Isolated succinate-coenzyme Q reductase deficiency; Isolated succinate-ubiquinone reductase deficiency (ORPHA:3208)
Gene: SDHC
Phenotype: Large hands (HP:0001176)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHC
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: PARAGANGLIOMAS 3 (OMIM:605373)
Gene: SDHC
Phenotype: Sporadic (HP:0003745)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHC
Phenotype: Panic attack (HP:0025269)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Neoplasm of the small intestine (HP:0100833)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHC
Phenotype: Seizure (HP:0001250)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Ataxia (HP:0001251)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHC
Phenotype: Neoplasm of the gastrointestinal tract (HP:0007378)
Associated disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA (OMIM:606864)
Gene: SDHC
Phenotype: Neoplasm of the gastrointestinal tract (HP:0007378)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHC
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Bone cyst (HP:0012062)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHC
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Lipoma (HP:0012032)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Neoplasm (HP:0002664)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Paraganglioma (HP:0002668)
Associated disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA (OMIM:606864)
Gene: SDHC
Phenotype: Paraganglioma (HP:0002668)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHC
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Paraganglioma (HP:0002668)
Associated disease: PARAGANGLIOMAS 3 (OMIM:605373)
Gene: SDHC
Phenotype: Tremor (HP:0001337)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARAGANGLIOMAS 3 (OMIM:605373)
Gene: SDHC
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: PARAGANGLIOMAS 3 (OMIM:605373)
Gene: SDHC
Phenotype: Scoliosis (HP:0002650)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Macroglossia (HP:0000158)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Flushing (HP:0031284)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Nausea (HP:0002018)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Constipation (HP:0002019)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHC
Phenotype: Constipation (HP:0002019)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHC
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHC
Phenotype: Abdominal pain (HP:0002027)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHC
Phenotype: Elevated circulating catecholamine level (HP:0003334)
Associated disease: PARAGANGLIOMAS 3 (OMIM:605373)
Gene: SDHC
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Dysphagia (HP:0002015)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHC
Phenotype: Dysphagia (HP:0002015)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHC
Phenotype: Dysphagia (HP:0002015)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHC
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHC
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHC
Phenotype: Adult onset (HP:0003581)
Associated disease: PARAGANGLIOMAS 3 (OMIM:605373)
Gene: SDHC
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Conjunctival hamartoma (HP:0100780)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Gastrointestinal stroma tumor (HP:0100723)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHC
Phenotype: Gastrointestinal stroma tumor (HP:0100723)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHC
Phenotype: Gastrointestinal stroma tumor (HP:0100723)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHC
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHC
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHC
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Fibroma (HP:0010614)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Neurofibroma (HP:0001067)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHC
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Urticaria (HP:0001025)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHC
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: PARAGANGLIOMAS 3 (OMIM:605373)
Gene: SDHC
Phenotype: Papule (HP:0200034)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHC
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: PARAGANGLIOMAS 3 (OMIM:605373)
Gene: SDHC
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Palpitations (HP:0001962)
Associated disease: PARAGANGLIOMAS 3 (OMIM:605373)
Gene: SDHC
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Anemia (HP:0001903)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHC
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Glomus jugular tumor (HP:0003001)
Associated disease: PARAGANGLIOMAS 3 (OMIM:605373)
Gene: SDHC
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Macule (HP:0012733)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Papilloma (HP:0012740)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: PARAGANGLIOMAS 3 (OMIM:605373)
Gene: SDHC
Phenotype: Autism (HP:0000717)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHC
Phenotype: Goiter (HP:0000853)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHC
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)