160 (72.3%)
|
Peripheral primitive neuroectodermal tumor
|
Anemia
Ascites
Elevated alpha-fetoprotein
Jaundice
A rare, aggressive, malignant, neoplastic disease characterized by a usually ill-defined, solid, multilobulated mass, frequently having necrosis, located on any site of the body (except the central nervous system), composed of small, round, poorly differentiated cells, with or without Homer-Wright rosettes, showing varying degrees of neuroectodermal differentiation. Manifestations are variable depending on location, with osteolytic destruction being common when arising from bone.
Orphanet:370348
Find images (Google)
Find case reports
Monarch
GTR:C0684337
|
160 (72.3%)
|
Cutaneous neuroendocrine carcinoma
|
Ascites
Diabetes mellitus
Iron deficiency anemia
Jaundice
Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)).
Orphanet:79140
Find images (Google)
Find case reports
Monarch
GTR:C0007129
|
160 (72.3%)
|
Gastroschisis
|
Anemia
Ascites
Jaundice
Proteinuria
Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.
Orphanet:2368
Find images (Google)
Find case reports
Monarch
GTR:C0265706
|
160 (72.3%)
|
Zollinger-Ellison syndrome
|
Abdominal mass
Diabetes mellitus
Jaundice
Megaloblastic anemia
Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion.
Orphanet:913
Find images (Google)
Find case reports
Monarch
GTR:C0017150
GTR:C0043515
|
160 (72.3%)
|
Carcinoid syndrome
|
Anemia
Ascites
Facial edema
Jaundice
Autosomal dominant inheritance
A rare neoplastic disease characterized by the occurrence of a hormonal syndrome resulting from secretion of humoral factors (including polypeptides, vasoactive amines, and prostaglandins) from a functional neuroendocrine tumor (particularly from the midgut), typically manifesting with increased bowel movements and diarrhea, episodic vasoactive flushes (particularly of the face), hypotension, tachycardia, venous telangiectasia, dyspnea, and bronchospasms, as well as long-term fibrotic changes in the mesentery, retroperitoneum, and of the cardiac valves.
Orphanet:100093
Find images (Google)
Find case reports
Monarch
|
160 (72.3%)
|
Cryptococcosis
|
Anemia
Ascites
Diabetes mellitus
Jaundice
A cosmopolitan fungal infection due to Cryptococcus neoformans.
Orphanet:1546
Find images (Google)
Find case reports
Monarch
GTR:C0010414
|
160 (72.3%)
|
Liposarcoma
|
Anemia
Ascites
Hematuria
Jaundice
Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla.
Orphanet:69078
Find images (Google)
Find case reports
Monarch
GTR:C0023827
|
160 (72.3%)
|
Glioblastoma
|
Ascites
Edema
Hemolytic anemia
Jaundice
Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).
Orphanet:360
Find images (Google)
Find case reports
Monarch
GTR:C0017636
GTR:C1621958
|
169 (72.2%)
|
Paroxysmal nocturnal hemoglobinuria
|
Hemolytic anemia
Jaundice
Splenic rupture
Vitamin B12 deficiency
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.
Orphanet:447
Find images (Google)
Find case reports
Monarch
GTR:C0024790
|
169 (72.2%)
|
Preeclampsia
|
Hemolytic anemia
Jaundice
Splenic rupture
Vitamin B12 deficiency
Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.
Orphanet:275555
Find images (Google)
Find case reports
Monarch
GTR:C0032914
|
171 (71.8%)
|
TAFRO syndrome
|
Cholangitis
Hepatosplenomegaly
Microcytic anemia
Proteinuria
Orphanet:457077
Find images (Google)
Find case reports
Monarch
|
171 (71.8%)
|
Anaplastic large cell lymphoma
|
Cholecystitis
Edema
Hepatosplenomegaly
Iron deficiency anemia
A rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL.
Orphanet:98841
Find images (Google)
Find case reports
Monarch
GTR:C0206180
|
171 (71.8%)
|
Trisomy 13
|
Anemia
Hematuria
Hepatomegaly
Portal fibrosis
Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.
Orphanet:3378
Find images (Google)
Find case reports
Monarch
GTR:C2936830
GTR:C0152095
|
171 (71.8%)
|
Omphalocele
|
Cholelithiasis
Hematuria
Hepatomegaly
Iron deficiency anemia
Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.
Orphanet:660
Find images (Google)
Find case reports
Monarch
GTR:C0795690
|
171 (71.8%)
|
Nephroblastoma
|
Anemia
Hepatomegaly
Portal fibrosis
Proteinuria
A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.
Orphanet:654
Find images (Google)
Find case reports
Monarch
GTR:C0027708
|
176 (71.7%)
|
Dermatomyositis
|
Abnormal metabolism
Acrocyanosis
Hemolytic anemia
Hepatomegaly
A type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.
Orphanet:221
Find images (Google)
Find case reports
Monarch
GTR:C0011633
GTR:C0221056
|
177 (71.4%)
|
Erdheim-Chester disease
|
Anemia
Ascites
Diabetes mellitus
Plethora
Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.
Orphanet:35687
Find images (Google)
Find case reports
Monarch
GTR:C0878675
|
177 (71.4%)
|
Osteosarcoma
|
Anemia
Ascites
Cyanosis
Hematuria
Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.
Orphanet:668
Find images (Google)
Find case reports
Monarch
GTR:C0029463
|
179 (71.2%)
|
Carcinoma of the ampulla of Vater
|
Anemia
Fever
Jaundice
Lymphadenopathy
Carcinoma of the ampulla of Vater is a rare malignant tumor originating from the ampulla of Vater that can present with symptoms of general fatigue, loss of appetite, weight loss, nausea, vomiting, abdominal pain and, most commonly, painless obstructive jaundice. The tumor is believed to arise from duodenal, biliary or pancreatic epilthelium, resulting in the respective histological types. In general, carcinoma of the ampulla of Vater has a better prognosis (5-year survival rate of 45%) than cancers of the distal bile duct and pancreas.
Orphanet:300557
Find images (Google)
Find case reports
Monarch
GTR:C0262401
|
179 (71.2%)
|
MALT lymphoma
|
Anemia
Hematuria
Jaundice
Lymphadenopathy
Multifactorial inheritance
MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.
Orphanet:52417
Find images (Google)
Find case reports
Monarch
GTR:C0242647
|
179 (71.2%)
|
Strongyloidiasis
|
Anemia
Diabetes mellitus
Jaundice
Lymphadenopathy
A parasitosis caused by the intestinal nematode Strongyloides stercoralis (round worm).
Orphanet:76
Find images (Google)
Find case reports
Monarch
GTR:C0038463
GTR:C0085810
|
179 (71.2%)
|
Nasopharyngeal carcinoma
|
Dehydration
Jaundice
Lymphadenopathy
Microcytic anemia
Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.
Orphanet:150
Find images (Google)
Find case reports
Monarch
GTR:C0238301
GTR:C2931822
GTR:C0153392
|
179 (71.2%)
|
Acute adrenal insufficiency
|
Jaundice
Lymphadenopathy
Normocytic anemia
Renal salt wasting
A rare, severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.
Orphanet:95409
Find images (Google)
Find case reports
Monarch
GTR:C0151467
|
179 (71.2%)
|
Panhypopituitarism
|
Anemia
Diabetes mellitus
Generalized lymphadenopathy
Jaundice
Orphanet:90695
Find images (Google)
Find case reports
Monarch
GTR:C0242343
|
179 (71.2%)
|
Myasthenia gravis
|
Abnormality of the thymus
Hemolytic anemia
Jaundice
Proteinuria
Multifactorial inheritance
Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.
Orphanet:589
Find images (Google)
Find case reports
Monarch
GTR:C0026896
|
186 (71.2%)
|
Alpha-thalassemia-myelodysplastic syndrome
|
Bruising susceptibility
Microcytic anemia
Splenomegaly
An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).
Orphanet:231401
Find images (Google)
Find case reports
Monarch
GTR:C0585216
|
187 (71.2%)
|
Common variable immunodeficiency
|
Hemolytic anemia
Purpura
Splenomegaly
Vitamin B12 deficiency
Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.
Orphanet:1572
Find images (Google)
Find case reports
Monarch
GTR:C0009447
|
188 (71.1%)
|
Congenital chylothorax
|
Ascites
Cholestasis
Edema
Hemolytic anemia
Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations.
Orphanet:264688
Find images (Google)
Find case reports
Monarch
GTR:C0340014
|
188 (71.1%)
|
Kabuki syndrome
|
Ascites
Cholestasis
Diabetes mellitus
Hemolytic anemia
Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
Orphanet:2322
Find images (Google)
Find case reports
Monarch
GTR:C0796004
|
188 (71.1%)
|
Turner syndrome
|
Ascites
Cholestasis
Diabetes mellitus
Macrocytic anemia
Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.
Orphanet:881
Find images (Google)
Find case reports
Monarch
GTR:C0242526
GTR:C0041408
|
191 (71.0%)
|
Autoimmune polyendocrinopathy type 4
|
Aplasia/Hypoplasia of the spleen
Biliary cirrhosis
Decreased circulating antibody level
Macrocytic anemia
Orphanet:227990
Find images (Google)
Find case reports
Monarch
|
191 (71.0%)
|
Autoimmune polyendocrinopathy type 3
|
Anemia
Aplasia/Hypoplasia of the spleen
Biliary cirrhosis
Diabetes mellitus
A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease.
Orphanet:227982
Find images (Google)
Find case reports
Monarch
GTR:C1535942
|
191 (71.0%)
|
Clear cell renal carcinoma
|
Anemia
Cholecystitis
Hematuria
Splenic rupture
Orphanet:319276
Find images (Google)
Find case reports
Monarch
GTR:C0279702
|
191 (71.0%)
|
Cornelia de Lange syndrome
|
Anemia
Asplenia
Biliary atresia
Increased nuchal translucency
Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).
Orphanet:199
Find images (Google)
Find case reports
Monarch
GTR:C0270972
|
191 (71.0%)
|
Aspergillosis
|
Cholangitis
Hematuria
Hemolytic anemia
Splenic abscess
A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.
Orphanet:1163
Find images (Google)
Find case reports
Monarch
GTR:C0004030
|
196 (70.9%)
|
X-linked sideroblastic anemia
|
Abnormality of iron homeostasis
Anemia
Elevated hepatic transaminase
Splenomegaly
X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.
Orphanet:75563
Find images (Google)
Find case reports
Monarch
|
196 (70.9%)
|
Chronic neutrophilic leukemia
|
Anemia
Hepatosplenomegaly
Paraproteinemia
Splenomegaly
Orphanet:86829
Find images (Google)
Find case reports
Monarch
GTR:C0023481
|
196 (70.9%)
|
Apolipoprotein A-I deficiency
|
Abnormality of the liver
Anemia
Decreased HDL cholesterol concentration
Splenomegaly
Autosomal dominant inheritance
A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
Orphanet:425
Find images (Google)
Find case reports
Monarch
KEGG:H00930
GTR:C0342898
GTR:C1704429
|
196 (70.9%)
|
Combined immunodeficiency due to CRAC channel dysfunction
|
Fever
Hemolytic anemia
Hepatomegaly
Splenomegaly
Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.
Orphanet:169090
Find images (Google)
Find case reports
Monarch
|
196 (70.9%)
|
Osteopetrosis with renal tubular acidosis
|
Anemia
Hepatomegaly
Renal tubular acidosis
Splenomegaly
Autosomal recessive inheritance
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
Orphanet:2785
Find images (Google)
Find case reports
Monarch
KEGG:H00241
GTR:C1849435
|