TaoMedAI/RareMedData huggingface dataset:
Gene: SDHB
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Generalized myoclonic seizure (HP:0002123)
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: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
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: SDHB
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHB
Phenotype: Adult onset (HP:0003581)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Conjunctival hamartoma (HP:0100780)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Gastrointestinal stroma tumor (HP:0100723)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHB
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: SDHB
Phenotype: Gastrointestinal stroma tumor (HP:0100723)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHB
Phenotype: Gastrointestinal stroma tumor (HP:0100723)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHB
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHB
Phenotype: Chest pain (HP:0100749)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Elevated urinary catecholamine level (HP:0011976)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Fibroma (HP:0010614)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Severe short stature (HP:0003510)
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: Proportionate short stature (HP:0003508)
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: Hyperactive patellar reflex (HP:0007083)
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: Hypopigmented skin patches (HP:0001053)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Neurofibroma (HP:0001067)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHB
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Distal amyotrophy (HP:0003693)
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: Frequent falls (HP:0002359)
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: Developmental regression (HP:0002376)
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: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Urticaria (HP:0001025)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHB
Phenotype: Spastic paraparesis (HP:0002313)
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: Motor deterioration (HP:0002333)
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: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Papule (HP:0200034)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
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: SDHB
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
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: Generalized hyperkeratosis (HP:0005595)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Lower limb hypertonia (HP:0006895)
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: Nystagmus (HP:0000639)
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: Palpitations (HP:0001962)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Palpitations (HP:0001962)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Blindness (HP:0000618)
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: Anemia (HP:0001903)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHB
Phenotype: Moderate global developmental delay (HP:0011343)
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: Short stature (HP:0004322)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Glomus jugular tumor (HP:0003001)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Macule (HP:0012733)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Papilloma (HP:0012740)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Irritability (HP:0000737)
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: Irritability (HP:0000737)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Autism (HP:0000717)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Dementia (HP:0000726)
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: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Hematuria (HP:0000790)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Goiter (HP:0000853)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Noncompaction cardiomyopathy (HP:0012817)
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 thyroid gland (HP:0000820)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Skeletal muscle atrophy (HP:0003202)
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: Melanocytic nevus (HP:0000995)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Pallor (HP:0000980)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Neoplasm of the colon (HP:0100273)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHB
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Skin rash (HP:0000988)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHB
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHB
Phenotype: Sarcoma (HP:0100242)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHB
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Mild microcephaly (HP:0040196)
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: Macrocephaly (HP:0000256)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Chemodectoma (HP:0030074)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Kyphosis (HP:0002808)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Knee flexion contracture (HP:0006380)
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: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619224)
Gene: SDHB
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: High palate (HP:0000218)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Melanoma (HP:0002861)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Meningioma (HP:0002858)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: PARAGANGLIOMAS 4 (OMIM:115310)
Gene: SDHB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHB
Phenotype: Intrauterine growth retardation (HP:0001511)
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: Fatigue (HP:0012378)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Fatigue (HP:0012378)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Fatigue (HP:0012378)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHB
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: GIST-paraganglioma dyad; Carney-Stratakis syndrome; Carney-Stratakis dyad; Paraganglioma and gastric stromal sarcoma; Carney dyad (ORPHA:97286)
Gene: SDHB
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: Gastrointestinal stromal sarcoma; GIST; Gastrointestinal stromal tumor (ORPHA:44890)
Gene: SDHB
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Gene: SDHB
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHB
Phenotype: Dysphonia (HP:0001618)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHB
Phenotype: Dysphonia (HP:0001618)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)