TaoMedAI/RareMedData huggingface dataset:
Gene: SDHD
Phenotype: Carcinoid tumor (HP:0100570)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Babinski sign (HP:0003487)
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: SDHD
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: SDHD
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Middle age onset (HP:0003596)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
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: SDHD
Phenotype: Late onset (HP:0003584)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Conjunctival hamartoma (HP:0100780)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
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: SDHD
Phenotype: Chest pain (HP:0100749)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Fibroma (HP:0010614)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
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: SDHD
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: SDHD
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: SDHD
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
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: SDHD
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: SDHD
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
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: SDHD
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
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: SDHD
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: SDHD
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Papule (HP:0200034)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Carotid paraganglioma (HP:0100635)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
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: SDHD
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
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: SDHD
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
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: SDHD
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: SDHD
Phenotype: Palpitations (HP:0001962)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Palpitations (HP:0001962)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Palpitations (HP:0001962)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
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: SDHD
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: SDHD
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Glomus jugular tumor (HP:0003001)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Macule (HP:0012733)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Papilloma (HP:0012740)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Neoplasm of the thyroid gland (HP:0100031)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
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: SDHD
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Autism (HP:0000717)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
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: SDHD
Phenotype: Young adult onset (HP:0011462)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Fetal onset (HP:0011461)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Hematuria (HP:0000790)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Myopathy (HP:0003198)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Increased serum serotonin (HP:0003144)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Goiter (HP:0000853)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
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: SDHD
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
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: SDHD
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Pallor (HP:0000980)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
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: SDHD
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Rhinorrhea (HP:0031417)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Chemodectoma (HP:0030074)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Kyphosis (HP:0002808)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
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: SDHD
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: High palate (HP:0000218)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Vagal paraganglioma (HP:0002886)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Melanoma (HP:0002861)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Meningioma (HP:0002858)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: SDHD
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: SDHD
Phenotype: Fatigue (HP:0012378)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Fatigue (HP:0012378)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
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: SDHD
Phenotype: Hoarse voice (HP:0001609)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: PARAGANGLIOMAS 1 (OMIM:168000)
Gene: SDHD
Phenotype: Dysphonia (HP:0001618)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: SDHD
Phenotype: Dysphonia (HP:0001618)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: SDHD
Phenotype: Ketonuria (HP:0002919)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)
Gene: SDHD
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619167)
Gene: SDHD
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: Carcinoid syndrome; Malignant carcinoid syndrome (ORPHA:100093)