data_source large_stringclasses 1
value | prompt listlengths 1 1 ⌀ | ability large_stringclasses 1
value | extra_info dict | reward_model dict | _id large_stringlengths 8 11 ⌀ | case_report large_stringlengths 284 8.41k ⌀ | test_results large_stringlengths 20 4.54k ⌀ | diagnosis large_stringlengths 3 232 ⌀ | Orpha_name large_stringlengths 4 137 ⌀ | Orpha_id large_stringlengths 0 6 ⌀ | age large_stringclasses 368
values | gender large_stringclasses 2
values | pub_date large_stringlengths 4 10 ⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 1,
"all_ground_truths_json": "[\"Hereditary angioedema with C1Inh deficiency\"]",
"gt_synonyms_json": "[\"HAE1\", \"Hereditary angioedema with C1Inh deficiency\", \"angioedema, hereditary, 1 and 2\", \"angioedema, hereditary, type 1/2\", \"angioedema, hereditary, type I\", \"heredit... | {
"style": "rule",
"ground_truth": "Hereditary Angioedema due to C1-inhibitor deficiency"
} | 8298325-1 | The patient is a 56-year-old male who had an appendectomy at 15 years old due to severe abdominal pain. Post-surgery, he experienced acute abdominal pain intermittently, approximately once a week, leading to repeated hospital admissions for several days. Between the ages of 33 and 34, he underwent five different surgic... | Low levels of serum C4 (3–16 mg/dl) and CH50 (29 U/ml) with normal serum C3 levels (79–102 mg/dl). Characteristic computed tomography (CT) scan findings of submucosal edema of the intestinal tracts and colectasia during an acute attack. Extremely low function level of C1-INH (25.2%). | Hereditary Angioedema due to C1-inhibitor deficiency | Hereditary angioedema with C1Inh deficiency | 528623 | [[56.0, "year"]] | M | 2021-02-05 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 3,
"all_ground_truths_json": "[\"Isolated splenogonadal fusion\"]",
"gt_synonyms_json": "[\"Isolated splenogonadal fusion\", \"SGF\", \"isolated splenogonadal fusion\"]",
"gt_ancestors_json": "{}",
"patient_phenotypes_json": "[\"inguinal hernia\", \"hernia\"]",
"patient_hpo_id... | {
"style": "rule",
"ground_truth": "Splenogonadal Fusion"
} | 6194785-1 | A 4-year-old boy presented to the urology clinic with a history of nonprogressive enlargement of the left side of the scrotum over several months. The patient had no significant past medical history and no history of genitourinary trauma or urinary symptoms. On physical examination, the child appeared well. A left ingu... | Ultrasonography revealed a hernial sac in the left inguinal area (31 mm × 23 mm × 12 mm) filled with bowel. Furthermore, a vascular homogenous hypoechoic mass (27 mm × 18 mm × 12 mm) was found adjacent to the superior aspect of the left testicle (11 mm × 6 mm). | Splenogonadal Fusion | Isolated splenogonadal fusion | 457083 | [[4.0, "year"]] | M | 2018 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 5,
"all_ground_truths_json": "[\"Thyrotoxic Periodic Paralysis\"]",
"gt_synonyms_json": "[\"Thyrotoxic Periodic Paralysis\", \"thyrotoxic hypokalemic periodic paralysis\", \"thyrotoxic periodic paralysis\"]",
"gt_ancestors_json": "{}",
"patient_phenotypes_json": "[\"hypertension... | {
"style": "rule",
"ground_truth": "Thyrotoxic Periodic Paralysis"
} | 5866117-1 | A 29-year-old Hispanic male with a history of hypertension and hyperthyroidism came to the emergency department reporting increasing weakness and paralysis. Earlier that day, he had been treated for odynophagia due to uvulitis with amoxicillin 875 mg twice daily for ten days and a single intramuscular injection of dexa... | He had hyperthyroidism with a significantly suppressed thyroid stimulating hormone (TSH) of <=0.03 miu/ml in the presence of elevated free thyroxine-4 (T4) of 2.97 nanogram/dL. | Thyrotoxic Periodic Paralysis | Thyrotoxic Periodic Paralysis | 79102 | [[29.0, "year"]] | M | 2018-01-23 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 7,
"all_ground_truths_json": "[\"Cystic echinococcosis\"]",
"gt_synonyms_json": "[\"Cystic echinococcosis\", \"Hydatidosis\", \"cystic echinococcosis\", \"hydatid disease\"]",
"gt_ancestors_json": "{}",
"patient_phenotypes_json": "[\"erythema\"]",
"patient_hpo_ids_json": "[\"H... | {
"style": "rule",
"ground_truth": "Hydatid Cyst"
} | 10603306-1 | A 32-year-old female from Al Ahsa city, Saudi Arabia, visited a general surgery clinic due to a six-month history of progressively enlarging swelling in her left thigh. Recently, she has experienced intense localized pain, especially during physical activity. She has no chronic diseases or comorbidities, and her medica... | MRI revealed a well-defined encapsulated cystic lesion in the intramuscular region of the back of the thigh. Complementary ultrasound corroborated the findings, revealing multiple daughter cysts within the primary cystic lesion. An excision biopsy from the left thigh revealed multiple pieces of light brown fatty tissue... | Hydatid Cyst | Cystic echinococcosis | 400 | [[32.0, "year"]] | F | 2023-09-26 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 9,
"all_ground_truths_json": "[\"Acute Disseminated Encephalomyelitis\"]",
"gt_synonyms_json": "[\"ADE\", \"ADEM\", \"Acute Disseminated Encephalomyelitis\", \"acute disseminated encephalitis\", \"acute disseminated encephalomyelitis\", \"post-infectious encephalomyelitis\"]",
"gt... | {
"style": "rule",
"ground_truth": "Acute Disseminated Encephalomyelitis"
} | 10718327-1 | A 40-year-old female received her second dose of the COVID-19 vaccine 4 months prior to admission. The day after vaccination, she experienced gait imbalance and vertigo, which persisted for over a month. She consulted a primary care physician 2 days after symptom onset and was given medication for symptom management. D... | Development of CNS manifestations during the recovery phase of fever along with typical MRI findings. | Acute Disseminated Encephalomyelitis | Acute Disseminated Encephalomyelitis | 83597 | [[40.0, "year"]] | F | 2023-12 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 10,
"all_ground_truths_json": "[\"Benign schwannoma\"]",
"gt_synonyms_json": "[\"Benign schwannoma\", \"SCHW\", \"benign neurilemmoma\", \"benign schwannoma\", \"neurilemmoma\", \"neurinoma\", \"neurolemmoma\", \"peripheral fibroblastoma\", \"schwannoma\", \"schwannoma (WHO grade I)... | {
"style": "rule",
"ground_truth": "ancient schwannoma"
} | 3177391-1 | An 11-year-old girl presented with a swelling in her lower jaw that had been present for two months. She reported no pain or paresthesia. Clinical examination showed an expansion of the right mandible without tenderness. A panoramic radiograph revealed a well-circumscribed, unilocular radiolucent lesion with thin scler... | Histopathologic examination of the H&E stained section of the incisional biopsy showed areas of Antoni A tissue including bundles of spindle shaped cells with long basophilic nuclei palisaded around an acellular eosinophilic areas known as Verocay bodies. Antoni B tissue with randomly arranged spindle cells, within a l... | ancient schwannoma | Benign schwannoma | 252164 | [[11.0, "year"]] | F | 2011 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 11,
"all_ground_truths_json": "[\"Facial dermoid cyst\"]",
"gt_synonyms_json": "[\"Facial dermoid cyst\", \"dermoid cyst of the face\", \"facial dermoid cyst\"]",
"gt_ancestors_json": "{}",
"patient_phenotypes_json": "[\"intellectual disability\", \"fever\", \"skin dimple\", \"h... | {
"style": "rule",
"ground_truth": "Frontotemporal Dermoid Cyst"
} | 10154989-1 | A 3-year-old male with a medical history of DiGeorge syndrome, single cardiac ventricle anatomy post-aortic reconstruction, Glenn, and Damus-Kaye-Stansel procedures, heart block with pacemaker, T-cell lymphopenia, gastrostomy tube dependence, developmental delay, and intellectual disability presented with fever and 24 ... | The obtained images demonstrated an intraorbital, extraconal rim-enhancing fluid collection along the superolateral wall of the right orbit measuring approximately 1.4 x 1.4 x 0.5cm immediately adjacent to a lytic bone lesion within the right sphenoid wing/posterolateral orbital wall with intracranial epidural extensio... | Frontotemporal Dermoid Cyst | Facial dermoid cyst | 141051 | [[3.0, "year"]] | M | 2023-04-03 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 12,
"all_ground_truths_json": "[\"Actinomycosis\"]",
"gt_synonyms_json": "[\"Actinomyces infection\", \"Actinomyces israeli\", \"Actinomycetes\", \"Actinomycosis\", \"Keratoactinomycosis\", \"actinomycosis\", \"anaerobic Actinomyces infection\", \"canaliculitis\", \"infections, Acti... | {
"style": "rule",
"ground_truth": "Primary Cutaneous Actinomycosis"
} | 11152492-1 | A 21-year-old female from West Bengal presented with a progressively enlarging mass on the left side of her forehead, persisting for 1 year. She had a history of a road traffic accident 3 years prior, affecting the same area, followed by facial reconstructive surgery and dental restoration. Two years post-surgery, a fl... | There was focal neutrophilic suppuration surrounding a basophilic structure that was made up of filamentous hyphae on higher magnification. The focus also showed a positive Splendore–Hoeppli phenomenon. Gomori methenamine silver stain was positive. Acid-fast staining was negative. | Primary Cutaneous Actinomycosis | Actinomycosis | 457095 | [[21.0, "year"]] | F | 2024 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 13,
"all_ground_truths_json": "[\"Localized scleroderma\"]",
"gt_synonyms_json": "[\"Localized scleroderma\", \"Scleroderma, localised\", \"Scleroderma, localized\", \"circumscribed scleroderma\", \"localised fibrosing scleroderma\", \"localised scleroderma (disorder) [ambiguous]\",... | {
"style": "rule",
"ground_truth": "Radiation-induced generalized morphea"
} | 5029261-1 | A 27-year-old male experienced headaches and seizures for 4 months. Magnetic resonance imaging revealed a space-occupying lesion in the right frontal lobe. The tumor was surgically removed via craniotomy, and histopathological examination identified it as a low-grade astrocytoma. Subsequently, he received a total dose ... | A biopsy from the lesion on his lower back showed markedly thickened, hyalinized, closely packed collagen bundles in reticular and papillary dermis. Sparse perivascular and periappendageal lymphohistiocytic infiltrate, atrophy of pilosebaceous units was seen. There was no mucin deposition. | Radiation-induced generalized morphea | Localized scleroderma | 90289 | [[27.0, "year"]] | M | 2016 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 14,
"all_ground_truths_json": "[\"Drug-induced autoimmune hemolytic anemia\"]",
"gt_synonyms_json": "[\"Drug-induced autoimmune hemolytic anemia\", \"drug-induced AIHA\", \"drug-induced autoimmune hemolytic anemia\"]",
"gt_ancestors_json": "{}",
"patient_phenotypes_json": "[\"de... | {
"style": "rule",
"ground_truth": "Contrast Media-Induced Immune Hemolytic Anemia"
} | 8126377-1 | A 70-year-old woman was brought to the emergency department at Sultan Qaboos University Hospital (SQUH) with a cough, shortness of breath, and fever lasting five days. Her medical history included ischemic stroke with severe disability (modified Rankin scale 5/6), type 2 diabetes mellitus, hypertension, depression, sev... | The scan showed bilateral basal pulmonary consolidation and fatty liver without any other significant finding. A blood film revealed normocytic normochromic red cells with anisocytosis, polychromia, bite cell, blister cells, acanthocytes, highly toxic neutrophils, and no fragmented cells. | Contrast Media-Induced Immune Hemolytic Anemia | Drug-induced autoimmune hemolytic anemia | 90037 | [[70.0, "year"]] | F | 2021-04-16 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 15,
"all_ground_truths_json": "[\"Pericarditis\"]",
"gt_synonyms_json": "[\"Pericarditis\"]",
"gt_ancestors_json": "{}",
"patient_phenotypes_json": "[\"hypertension\", \"pericardial effusion\", \"pericarditis\", \"pleural effusion\", \"anasarca\", \"abscess\", \"chest pain\", \"... | {
"style": "rule",
"ground_truth": "Effusive–constrictive pericarditis"
} | 7835501-1 | A 66-year-old male patient was admitted with chest pain that worsened upon inspiration for the past month. His medical history includes hypertension and a total esophagectomy with gastric pull-up reconstruction for esophageal cancer performed six years prior. Upon admission, he was afebrile with a blood pressure of 168... | Echocardiography revealed the increase of pericardial effusion. Doppler flow patterns showed the inspiratory decrease and expiratory increase of early transmitral left ventricular inflow. Follow-up computed tomography scan demonstrated increased pericardial effusion, diminishing pneumopericardium, and thickened pericar... | Effusive–constrictive pericarditis | Pericarditis | 58208 | [[66.0, "year"]] | M | 2020-12-10 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 17,
"all_ground_truths_json": "[\"Pycnodysostosis\"]",
"gt_synonyms_json": "[\"PKND\", \"Pycnodysostosis\", \"Pyknodysostosis\", \"pycnodysostosis\"]",
"gt_ancestors_json": "{}",
"patient_phenotypes_json": "[\"falls\", \"osteolysis\", \"short stature\", \"limited mouth opening\"... | {
"style": "rule",
"ground_truth": "Pycnodysostosis"
} | 5040570-1 | A 12-year-old girl was brought to our university hospital for evaluation of short stature and distinctive facial features. She is the second of four siblings, born to parents who are first-degree cousins. Her maternal and neonatal history was unremarkable, and there was no family history of similar conditions. The pati... | The radiographic examination showed a generalized increase in the bone density and horizontal fissure in the middle portion of the tibial shaft, but without obliteration of the medulary canals. Radiography of the skull showed sutures and fontanelles closed, slight condensation of the skull base and a very open mandibul... | Pycnodysostosis | Pycnodysostosis | 763 | [[12.0, "year"]] | F | 2016 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 19,
"all_ground_truths_json": "[\"X-linked agammaglobulinemia\"]",
"gt_synonyms_json": "[\"BTK-deficiency\", \"Bruton type agammaglobulinemia\", \"Bruton's Sex-linked agammaglobulinemia\", \"Bruton's X-linked agammaglobulinemia\", \"Bruton's agammaglobulinemia\", \"Bruton-type agamm... | {
"style": "rule",
"ground_truth": "X-linked agammaglobulinemia"
} | 2424073-2 | A 42-year-old male visited the allergy and immunology clinic due to recurrent infections and a history of immunodeficiency. His medical history indicated the onset of infections at age 3, starting with spinal meningitis, followed by recurrent bronchitis, pneumonitis, and four hospitalizations for pneumonia. Physical ex... | The results demonstrated a hemizygous point mutation associated with a single amino acid change in the Src homology 1 (SH1) domain of the Btk gene. | X-linked agammaglobulinemia | X-linked agammaglobulinemia | 47 | [[42.0, "year"]] | M | 2008 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 20,
"all_ground_truths_json": "[\"Linear nevus sebaceus syndrome\"]",
"gt_synonyms_json": "[\"Linear nevus sebaceus syndrome\"]",
"gt_ancestors_json": "{}",
"patient_phenotypes_json": "[\"hyperkeratosis\", \"nevus\", \"epidermal nevus\", \"papilloma\", \"verrucous epidermal nevu... | {
"style": "rule",
"ground_truth": "Schimmelpenning–Feuerstein–Mims Syndrome"
} | 7368203-1 | A 1-year-5-month-old girl was seen in the Endocrinology and Metabolism Department with breast enlargement starting at one year of age, followed by the appearance of pubic and axillary hair three months later, and vaginal bleeding five months after breast development began. She was the first-born child, delivered at 40 ... | A missense mutation in exon 2 of the gene, H-RAS c37G > C (p.G13R), was detected in the skin. | Schimmelpenning–Feuerstein–Mims Syndrome | Linear nevus sebaceus syndrome | 2612 | [[5.0, "month"]] | F | 2020 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 21,
"all_ground_truths_json": "[\"Evans Syndrome\"]",
"gt_synonyms_json": "[\"Evan syndrome\", \"Evans Syndrome\", \"Evans syndrome\", \"Evans' syndrome\", \"autoimmune hemolytic anaemia and autoimmune thrombocytopenia\", \"autoimmune hemolytic anemia and autoimmune thrombocytopenia... | {
"style": "rule",
"ground_truth": "Evans Syndrome"
} | 7441452-1 | A 23-year-old gravida 2, para 1, with no known medical history arrived at 38 weeks of gestation experiencing spontaneous rupture of membranes, contractions, and blood-tinged discharge. She reported uncomplicated prenatal care, though no records were available. Upon admission, her vital signs were stable, and she was 8 ... | DAT was positive for anti-immunoglobulin G and anti-complement antibodies. | Evans Syndrome | Evans Syndrome | 1959 | [[23.0, "year"]] | F | 2020 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 24,
"all_ground_truths_json": "[\"Calciphylaxis\"]",
"gt_synonyms_json": "[\"Calciphylaxis\", \"calciphylaxis\", \"idiopathic calciphylaxis\"]",
"gt_ancestors_json": "{}",
"patient_phenotypes_json": "[\"hypertension\", \"edema\", \"vascular calcification\", \"erythema\", \"escha... | {
"style": "rule",
"ground_truth": "Calciphylaxis"
} | 8764786-1 | A 73-year-old African American man with a history of end-stage renal disease on hemodialysis, coronary artery disease status post-high-risk percutaneous coronary intervention requiring mechanical circulatory support 3 weeks prior, heart failure with preserved ejection fraction, hypertension, and diabetes, presented wit... | The computed tomography (CT) scan of the abdomen and pelvis revealed extensive intravascular calcification correlating with the ulcerating wound on the glans. | Calciphylaxis | Calciphylaxis | 280062 | [[73.0, "year"]] | M | 2022-01-18 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 25,
"all_ground_truths_json": "[\"IgG4-related kidney disease\"]",
"gt_synonyms_json": "[\"IgG4-related kidney disease\"]",
"gt_ancestors_json": "{\"subtype of a disorder\": 1}",
"patient_phenotypes_json": "[\"lymphoma\", \"increased gamma globulin\"]",
"patient_hpo_ids_json":... | {
"style": "rule",
"ground_truth": "Renal Inflammatory Pseudotumor in the context of Renal IgG4-Related Disease"
} | 10036025-1 | A 65-year-old female was found to have a mass in the right kidney during a physical examination. Laboratory results showed elevated C-reactive protein at 53.4 mg/L (normal value < 8 mg/L), increased gamma globulin at 22 g/L (normal value 0.4–3.45 g/L), and an accelerated erythrocyte sedimentation rate at 33 mm/hour (no... | Plain CT showed a homogeneous isodensity mass in the upper portion of the right kidney with unclear boundary and the average CT value was approximately 40 HU. Enhanced CT demonstrated mild enhancement in the cortical phase, and the CT values of the 3 phases were about 42 HU, 57 HU and 53 HU, respectively. MRI showed th... | Renal Inflammatory Pseudotumor in the context of Renal IgG4-Related Disease | IgG4-related kidney disease | 449395 | [[65.0, "year"]] | F | 2023-03-24 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 26,
"all_ground_truths_json": "[\"Gastrointestinal stromal tumor\"]",
"gt_synonyms_json": "[\"GIST\", \"Gastrointestinal Stromal Tumors\", \"Gastrointestinal stromal tumor\", \"gastrointestinal stromal neoplasm\", \"gastrointestinal stromal sarcoma\", \"gastrointestinal stromal tumo... | {
"style": "rule",
"ground_truth": "Benign Gastric Gastrointestinal Stromal Tumor"
} | 4834622-1 | An 85-year-old woman experienced abdominal and epigastric discomfort, nausea, and weight loss over the past six months and was referred to a gastrointestinal clinic. Her body mass index was 27 kg/m2. Laboratory tests, including complete blood count and biochemistry panel, were within normal limits. Abdominal ultrasonog... | Histopathologic evaluation of the tumor specimen demonstrating proliferation of spindle cells with long oval nuclei. | Benign Gastric Gastrointestinal Stromal Tumor | Gastrointestinal stromal tumor | 44890 | [[85.0, "year"]] | F | 2016-03 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 33,
"all_ground_truths_json": "[\"Benign schwannoma\"]",
"gt_synonyms_json": "[\"Benign schwannoma\", \"SCHW\", \"benign neurilemmoma\", \"benign schwannoma\", \"neurilemmoma\", \"neurinoma\", \"neurolemmoma\", \"peripheral fibroblastoma\", \"schwannoma\", \"schwannoma (WHO grade I)... | {
"style": "rule",
"ground_truth": "Nasal Septal Schwannoma"
} | 7569445-1 | A 28-year-old male presented with worsening nasal congestion and frequent nosebleeds. Rigid endoscopy showed a polypoid mass with a smooth surface originating from the septum, which bled easily and caused obstruction on the left side of the nasal cavity. Paranasal sinus computed tomography (CT) revealed a polypoid mass... | Spindle cell proliferation consisting of photocellular and hypocellular alternating areas and diffuse positivity in spindle cells with S100 were observed. Vimentin staining was positive, though neuron-specific enolase and smooth muscle actin staining were negative. | Nasal Septal Schwannoma | Benign schwannoma | 252164 | [[28.0, "year"]] | M | 2020 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 34,
"all_ground_truths_json": "[\"Systemic lupus erythematosus\"]",
"gt_synonyms_json": "[\"Systemic lupus erythematosus\"]",
"gt_ancestors_json": "{}",
"patient_phenotypes_json": "[\"hypertension\", \"pallor\", \"areflexia\", \"dissociation\", \"synovitis\", \"quadriparesis\", ... | {
"style": "rule",
"ground_truth": "Systemic Lupus Erythematosus with CNS involvement"
} | 4875985-1 | A 30-year-old woman reported experiencing progressive ascending weakness in both lower limbs over the course of a week. Subsequently, she developed urinary and fecal incontinence. Imaging revealed inflammation of the spinal cord at the junction of the medulla and cervical spine. Her medical history included episodes of... | Anti-Nuclear Antibody (ANA) was positive in 1 : 640 dilution and homogeneous in pattern by indirect immunofluorescence (IIF), and anti-smith antibody (anti-Sm) was positive with intensity of 65 by EUROLine scan. Levels of complement component C3 were low (76.2 mg/dL, normal 90–180 mg/dL) while component C4 levels were ... | Systemic Lupus Erythematosus with CNS involvement | Systemic lupus erythematosus | 536 | [[30.0, "year"]] | F | 2016 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 36,
"all_ground_truths_json": "[\"Vogt-Koyanagi-Harada disease\"]",
"gt_synonyms_json": "[\"Harada's disease\", \"Uveomenigitic syndrome\", \"VKH disease\", \"VKH syndrome\", \"Vogt-Koyanagi syndrome\", \"Vogt-Koyanagi-Harada disease\", \"Vogt-Koyanagi-Harada syndrome\", \"uveomenin... | {
"style": "rule",
"ground_truth": "Vogt–Koyanagi–Harada disease"
} | 9146171-1 | Four days following his initial dose of an inactivated COVID-19 vaccine (Sinopharm (Vero cell), inactivated COVID-19 vaccine) in early June 2021, a 33-year-old Chinese male presented with a three-day history of decreased vision and metamorphopsia in both eyes. He did not report tinnitus, severe headache, or other syste... | Indocyanine green angiography (ICGA) and fluorescein angiography (FA) revealed early choroidal perfusion inhomogeneity, dot hyperfluorescence, and multiple areas of pinpoint hyperfluorescent foci with later-phase pooling OU. Optical coherence tomography (Spectralis OCT; Heidelberg Engineering, Heidelberg, Germany) and ... | Vogt–Koyanagi–Harada disease | Vogt-Koyanagi-Harada disease | 3437 | [[33.0, "year"]] | M | 2022-05-16 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 37,
"all_ground_truths_json": "[\"Hereditary methemoglobinemia\"]",
"gt_synonyms_json": "[\"Hereditary methemoglobinemia\", \"autosomal recessive methemoglobinemia\", \"congenital methemoglobinemia\", \"hereditary methemoglobinemia\"]",
"gt_ancestors_json": "{}",
"patient_phenot... | {
"style": "rule",
"ground_truth": "CYB5R3-related recessive hereditary methemoglobinemia type II"
} | 8870218-1 | This 2-year-old girl is the second daughter of healthy parents with no known consanguinity. There is no family history of neurological or inherited diseases. She was delivered at term via cesarean section following an uneventful pregnancy. Her Apgar score was 9 at 5 minutes. Birth measurements were as follows: weight 3... | Blood gas analysis indicated a MetHb of 20%. | CYB5R3-related recessive hereditary methemoglobinemia type II | Hereditary methemoglobinemia | 621 | [[2.0, "year"]] | F | 2022-01-29 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 41,
"all_ground_truths_json": "[\"Gastrointestinal Stromal Tumor\"]",
"gt_synonyms_json": "[\"GIST\", \"Gastrointestinal Stromal Tumor\", \"Gastrointestinal Stromal Tumors\", \"gastrointestinal stromal neoplasm\", \"gastrointestinal stromal sarcoma\", \"gastrointestinal stromal tumo... | {
"style": "rule",
"ground_truth": "Gastrointestinal Stromal Tumor"
} | 9007665-1 | A 79-year-old postmenopausal woman (gravida: 3, para: 3) was initially hospitalized for a bronchial asthma attack and subsequently found to have multiple cerebral infarctions in both cerebral and cerebellar hemispheres. Systemic computed tomography (CT) revealed a large pelvic mass and deep venous thrombosis in the low... | Immunohistochemical studies showed positive staining for c-kit, CD34, and DOG1. | Gastrointestinal Stromal Tumor | Gastrointestinal Stromal Tumor | 44890 | [[79.0, "year"]] | F | 2022 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 42,
"all_ground_truths_json": "[\"Congenital vitamin K-dependent coagulation factors deficiency\"]",
"gt_synonyms_json": "[\"Congenital vitamin K-dependent coagulation factors deficiency\", \"congenital vitamin K-dependent coagulation factors combined deficiency\", \"congenital vita... | {
"style": "rule",
"ground_truth": "Vitamin K-dependent coagulation factor deficiency"
} | 8727243-1 | A 64-year-old female patient was admitted to the hospital on November 27, 2019, with a primary complaint of painless gross hematuria lasting for 2 weeks. The patient experienced hematuria with blood clots, infrequent urination, urgent urination, and painful urination, but did not report any pain in the waist or lower a... | Prothrombin time (PT), 38.6 s; international normalized ratio (INR), 3.97; FBG, 4.85 g/L; activated partial thromboplastin time (APTT), 109.8 s; thrombin time, 16.9 s; and D-dimer, 0.89 µg/mL FEU. The results for blood coagulation factor (F) activity were as follows: FII, 7.0%; FV, 122.0%; and FX, 6.0%. An APTT mixed c... | Vitamin K-dependent coagulation factor deficiency | Congenital vitamin K-dependent coagulation factors deficiency | 169826 | [[64.0, "year"]] | F | 2022-01-07 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 43,
"all_ground_truths_json": "[\"Immunoglobulin-mediated membranoproliferative glomerulonephritis\"]",
"gt_synonyms_json": "[\"Ig-mediated MPGN\", \"Ig-mediated membranoproliferative glomerulonephritis\", \"Immunoglobulin-mediated membranoproliferative glomerulonephritis\", \"NPHS7... | {
"style": "rule",
"ground_truth": "Proliferative glomerulonephritis with monoclonal IgG deposits"
} | 5607986-1 | A 38-year-old white female with type 1 diabetes mellitus, which has led to complications such as retinopathy, gastroparesis, and end-stage renal disease (ESRD), received a deceased donor SPK transplantation in November 2007. Both donor and recipient tested negative for cytomegalovirus (CMV) serology. The patient was no... | Light microscopy showed increased mesangial matrix and hypercellularity. Immunofluorescence revealed mesangial 2+ staining for IgG with specificity for IgG3 subclass, C3, C1q, IgM and 1+ staining for kappa light chains with negative staining for lambda light chain, IgA and subclasses of IgG1, IgG2 and IgG4 as well as p... | Proliferative glomerulonephritis with monoclonal IgG deposits | Immunoglobulin-mediated membranoproliferative glomerulonephritis | 329903 | [[38.0, "year"]] | F | 2017-07 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 44,
"all_ground_truths_json": "[\"Pyoderma Gangrenosum\"]",
"gt_synonyms_json": "[\"Pyoderma Gangrenosum\", \"pyoderma gangrenosum\"]",
"gt_ancestors_json": "{}",
"patient_phenotypes_json": "[\"oral ulcer\", \"weight loss\", \"diarrhea\", \"constipation\", \"abdominal pain\", \"... | {
"style": "rule",
"ground_truth": "Pyoderma Gangrenosum"
} | 10439785-1 | A 35-year-old female presented to the emergency department with pustular to ulcerative lesions on her limbs and trunk. The initial presentation occurred during the first trimester of her pregnancy in February 2020, featuring multiple geometric-shaped, painful, ulcerative lesions on the right foot and both hands. The pa... | Histopathology of the ulcer margin showed an ulcerated epidermis with a thick neutrophilic crust, scattered neutrophilic infiltrate in the dermis, and subcutaneous fat with no evidence of malignancy. | Pyoderma Gangrenosum | Pyoderma Gangrenosum | 48104 | [[35.0, "year"]] | F | 2023-07-20 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 45,
"all_ground_truths_json": "[\"Calciphylaxis\"]",
"gt_synonyms_json": "[\"Calciphylaxis\", \"calciphylaxis\", \"idiopathic calciphylaxis\"]",
"gt_ancestors_json": "{}",
"patient_phenotypes_json": "[\"diabetes mellitus\", \"hypertension\", \"edema\", \"phimosis\", \"lymphadeno... | {
"style": "rule",
"ground_truth": "Penile calciphylaxis"
} | 8761251-1 | A 41-year-old male arrived at the emergency department with penile pain lasting one week, accompanied by foreskin bleeding, penoscrotal swelling, and shortness of breath. His medical history included type 1 diabetes mellitus, hypertension, peripheral arterial disease, a single toe amputation, and end-stage renal failur... | The histopathology demonstrated necrosis and vessel calcification. | Penile calciphylaxis | Calciphylaxis | 280062 | [[41.0, "year"]] | M | 2022-01 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 47,
"all_ground_truths_json": "[\"Granulomatosis with polyangiitis\"]",
"gt_synonyms_json": "[\"ANCA-associated vasculitis\", \"GPA\", \"Granulomatosis with polyangiitis\", \"Midline granulomatosis\", \"Wegener granulomatosis\", \"Wegener's granulomatosis\", \"Wegener's syndrome\", ... | {
"style": "rule",
"ground_truth": "Granulomatous Polyangiitis"
} | 6221664-1 | A 50-year-old Filipino woman presented with nodular erythema on her arms, legs, and face. She had no history of allergies, medications, or past medical conditions such as bronchial asthma. One year after the initial presentation, a skin biopsy revealed eosinophilic infiltration. Blood tests showed eosinophilia (3450/μL... | Renal biopsy revealed crescentic glomerulonephritis with peritubulitis. Otolaryngological medical examination revealed right chronic otitis. | Granulomatous Polyangiitis | Granulomatosis with polyangiitis | 900 | [[50.0, "year"]] | F | 2018-10 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 48,
"all_ground_truths_json": "[\"Takayasu Arteritis\"]",
"gt_synonyms_json": "[\"Arteritis, Takayasu\", \"TA\", \"Takayasu Arteritis\", \"Takayasu arteritis\", \"Takayasu disease\", \"Takayasu's arteritis\", \"Takayasu's disease\", \"aortic arch arteritis\", \"aortic arch syndrome\... | {
"style": "rule",
"ground_truth": "Takayasu Arteritis"
} | 10471448-1 | A 22-year-old Caucasian female with no known chronic conditions presented with five months of intermittent pleuritic chest pain, exertional dyspnea, night sweats, fever, and an approximate 9-kilogram unintentional weight loss. She also experienced an intermittent globus sensation with meals and neck and shoulder pain. ... | The study revealed wall thickening of the thoracic aorta, ascending aorta, aortic arch, and proximal descending segments with a standardized uptake value (SUV) max of 5.47 for these vessels. | Takayasu Arteritis | Takayasu Arteritis | 3287 | [[22.0, "year"]] | F | 2023 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 52,
"all_ground_truths_json": "[\"Myxoid/round cell liposarcoma\"]",
"gt_synonyms_json": "[\"MRCLS\", \"Myxoid/round cell liposarcoma\", \"myxoid/round cell liposarcoma\", \"myxoid/round-cell liposarcoma\"]",
"gt_ancestors_json": "{\"subtype of a disorder\": 1}",
"patient_phenot... | {
"style": "rule",
"ground_truth": "Primary Pleural Myxoid Liposarcoma"
} | 10439808-1 | A 24-year-old male arrived at the emergency department with a two-week history of shortness of breath and left-sided chest pain that worsened with breathing. He had a productive cough but no blood in the sputum, fever, chills, or shaking. The patient did not smoke and had no notable medical history, weight loss, or occ... | Histopathological examination of the surgical tissues confirmed low-grade soft tissue sarcoma with lipogenic differentiation. | Primary Pleural Myxoid Liposarcoma | Myxoid/round cell liposarcoma | 99967 | [[24.0, "year"]] | M | 2023-07-20 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 55,
"all_ground_truths_json": "[\"Essential Thrombocythemia\"]",
"gt_synonyms_json": "[\"ET\", \"Essential Thrombocythemia\", \"essential thrombocytemia\", \"essential thrombocythemia\", \"essential thrombocytosis\", \"idiopathic thrombocythemia\", \"primary thrombocythemia\", \"pri... | {
"style": "rule",
"ground_truth": "Essential Thrombocythemia"
} | 6286726-1 | A 72-year-old male from a rural area, retired, with a history of arterial hypertension and three ischemic strokes, was admitted to the Neurology Clinic on March 20, 2016. He presented with right-sided weakness and aphasia. He experienced an ischemic episode on February 29 in the left vertebrobasilar territory and has a... | Spinal puncture showed marrow hypercelularity, hyperplasia of megakaryocytes, normal iron deposits in the bone marrow and myelofibrosis absence. | Essential Thrombocythemia | Essential Thrombocythemia | 3318 | [[72.0, "year"]] | M | 2017 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 57,
"all_ground_truths_json": "[\"Lynch syndrome\"]",
"gt_synonyms_json": "[\"Hereditary colorectal endometrial cancer syndrome\", \"Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)\", \"Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)\", \"Lynch s... | {
"style": "rule",
"ground_truth": "Lynch syndrome"
} | 4564456-1 | A 58-year-old Japanese male was referred to our hospital for the treatment of advanced transverse colon cancer identified during an annual colonoscopy. His medical history includes ulcerative colitis treated with proctectomy and a colonic stoma in his 20s, adenocarcinoma of the stomach treated with distal gastrectomy a... | MSI-high status in both cancer tissues. Positive MSH2 staining in the non-cancerous lesions, with no staining in the cancerous lesions. No mutation in MLH1 and p.G40S (GGC > AGC) mutation in MSH2 in heterozygote. | Lynch syndrome | Lynch syndrome | 144 | [[58.0, "year"]] | M | 2015-09-09 |
THUMedInfo/RareArena | [
{
"role": "user",
"content": "You are an expert physician specialized in rare disease diagnosis.\nRead the patient's phenotype description and reason step by step.\nFirst put your full reasoning inside <think> </think>.\nThen output your differential diagnosis as a ranked list of the 10 most likely rare dis... | rare_disease_dx | {
"split": "train",
"index": 60,
"all_ground_truths_json": "[\"Primary central nervous system lymphoma\"]",
"gt_synonyms_json": "[\"CNS lymphoma\", \"PCNSL\", \"Primary central nervous system lymphoma\", \"central nervous system lymphoma\", \"lymphoma of central nervous system\", \"malignant lymphomas of CNS\",... | {
"style": "rule",
"ground_truth": "Primary CNS Lymphoplasmacytic Lymphoma"
} | 8387585-1 | A forty-six-year-old female arrived at the emergency department with a two-month history of headache and increasing numbness in her right leg. She also reported experiencing nausea and dizziness two weeks prior to admission. Her medical and family history were unremarkable. Upon admission, she appeared excitable and ha... | Magnetic resonance imaging (MRI) of her brain showed multifocal lesions scattered across the left occipital and parietal lobes; the largest one measured 16 mm in its transverse dimension. These lesions demonstrated a hypointense signal on the T1W sequence, a hyperintense signal on FLAIR, and no abnormal diffusion restr... | Primary CNS Lymphoplasmacytic Lymphoma | Primary central nervous system lymphoma | 46135 | [[46.0, "year"]] | F | 2021-08-21 |
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