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Synonyms |
Description |
Articles |
Phenotypes |
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immunodeficiency 50
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IMD50; immunodeficiency 50 X linked recessive; CID..
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immunodeficiency 50 X linked recessive; IMD50; CID due to Moesin deficiency; combined immunodeficiency due to Moesin deficiency; X-linked Moesin-associated immunodeficiency; MSN-related combined immunodeficiency
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A combined immunodeficiency characterized by profo.. [+]A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12.
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immunodeficiency 47
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immunodeficiency and hepatopathy with or without n..
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immunodeficiency and hepatopathy with or without neurologic features; IMD47; CDG IIs; CDG2S; CDGIIs; congenital disorder of glycosylation type IIs
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A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28.
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immunodeficiency 33
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IMD33; X-linked mendelian susceptibility to mycoba..
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IMD33; X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency; X-linked MSMD due to IKBKG deficiency; X-linked MSMD due to NEMO deficiency; X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
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A combined immunodeficiency characterized by early.. [+]A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28.
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immunodeficiency 71
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immunodeficiency 71 with inflammatory disease and ..
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immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia; IMD71; platelet abnormalities with eosinophilia and immune-mediated inflammatory disease; PLTEID
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A combined immunodeficiency characterized by throm.. [+]A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1.
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immunodeficiency 70
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IMD70
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A combined T cell and B cell immunodeficiency char.. [+]A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3.
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immunodeficiency 69
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IMD69
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A T cell and NK cell immunodeficiency characterize.. [+]A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15.
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immunodeficiency 72
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immunodeficiency 72 with autoinflammation
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A combined immunodeficiency characterized by onset.. [+]A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2.
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immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
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IMD73B
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A combined immunodeficiency characterized by onset.. [+]A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1.
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immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
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IMD73C
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A combined immunodeficiency characterized by onset.. [+]A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12.
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immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
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IMD73A; neutrophil immunodeficiency syndrome
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A combined immunodeficiency characterized by onset.. [+]A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1.
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inflammatory bowel disease 30
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inflammatory bowel disease (Crohn disease) 30; IBD..
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inflammatory bowel disease (Crohn disease) 30; IBD30
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An inflammatory bowel disease characterized by abd.. [+]An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33.
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inflammatory bowel disease 29
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IBD29
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An inflammatory bowel disease that has_material_ba.. [+]An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1.
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iminoglycinuria
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A renal tubular transport disease characterized by.. [+]A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33.
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immunodeficiency 79
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IMD79
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A T cell deficiency characterized by childhood ons.. [+]A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13.
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degenerative disc disease
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intervertebral disc degeneration; cervical disc de..
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intervertebral disc degeneration; cervical disc degenerative disease; vertebral disc disease; lumbar disc degeneration
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A bone deterioration disease that has_material_bas.. [+]A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
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melanotic neuroectodermal tumor
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Infantile Melanotic neuroectodermal neoplasm; Mela..
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Infantile Melanotic neuroectodermal neoplasm; Melanotic neuroectodermal tumor (morphologic abnormality); Melanotic neuroectodermal tumor of infancy (morphologic abnormality); Melanotic neuroectodermal tumor; Melanotic neuroectodermal tumor of infancy; Melanotic neuroectodermal tumour of infancy; Pigmented neuroectodermal tumour of infancy; melanotic neuroectodermal tumour; Melanotic neuroectodermal tumour
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n_a
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arthropathy
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Infectious arthropathy; ankylosis of forearm joint..
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Infectious arthropathy; ankylosis of forearm joint; ankylosis of hand joint; Ankylosis of joint of ankle and/or foot (disorder); Ankylosis of joint of forearm (disorder); Ankylosis of joint of hand (disorder); ankylosis of joint of multiple sites; Ankylosis of joint of multiple sites (disorder); ankylosis of joint of pelvic region and thigh; Ankylosis of joint of upper arm (disorder); ankylosis of lower leg joint; ankylosis of upper arm joint; Joint ankylosis of the ankle and foot; Joint ankylosis of the ankle and/or foot (disorder); Joint ankylosis of the forearm; Joint ankylosis of the forearm (disorder); Joint ankylosis of the hand; Joint ankylosis of the lower leg; Joint ankylosis of the lower leg (disorder); Joint ankylosis of the pelvic region and thigh; Joint ankylosis of the shoulder region (disorder); Joint ankylosis of the upper arm; Joint ankylosis of the upper arm (disorder); Ankylosis of joint of lower leg (disorder); Ankylosis of joint of shoulder region (disorder); Joint ankylosis of the pelvic region and thigh (disorder); ankylosis of ankle and foot joint; Ankylosis of joint of ankle and/or foot; Ankylosis of joint of forearm; Ankylosis of joint of hand; Ankylosis of joint of multiple sites; Ankylosis of joint of shoulder region; Ankylosis of multiple joints; Joint ankylosis of the ankle and/or foot; Ankylosis of joint of lower leg; ankylosis of joint of shoulder region; Ankylosis of joint of upper arm; Joint ankylosis of the shoulder region
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A bone disease that is located_in the joint.
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renal tubular transport disease
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inborn renal tubular transport disorder
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n_a
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38 articles
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kidney disease
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impaired renal function disease; nephropathy
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A urinary system disease that is located_in the ki.. [+]A urinary system disease that is located_in the kidney.
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92 articles
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51 matches
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primary immunodeficiency disease
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immunodeficiency syndrome; immune deficiency disor..
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immunodeficiency syndrome; immune deficiency disorder; hypoimmunity
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An immune system disease that results when one or .. [+]An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
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26 articles
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12 matches
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myositis
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Inflammatory disorder of muscle; Inflammatory diso..
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Inflammatory disorder of muscle; Inflammatory disorder of muscle (disorder)
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A myopathy characterized by muscle inflammation.
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4 articles
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purine-pyrimidine metabolic disorder
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inborn errors of purine-pyrimidine metabolism
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An inherited metabolic disorder involving dysfunct.. [+]An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
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septic arthritis
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infectious arthritis
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An arthritis that involves infection by a pathogen.. [+]An arthritis that involves infection by a pathogen located_in joint.
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arthritis
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Inflammatory disorder of joint
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A bone inflammation disease that involves a respon.. [+]A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.
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9 articles
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metagonimiasis
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Infection by Metagonimus yokogawai; Infection by M..
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Infection by Metagonimus yokogawai; Infection by Metagonimus yokogawai (disorder)
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected.
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fascioliasis
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Infection by Fasciola; Infection by Fasciola (diso..
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Infection by Fasciola; Infection by Fasciola (disorder); Fasciola hepatica infection (disorder); Liver flukes NOS; Liver flukes NOS (disorder); Fasciola hepatica infection; Liver flukes; Sheep liver fluke infection
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa.
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fasciolopsiasis
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Infection by Fasciolopsis buski; Infectious Diseas..
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Infection by Fasciolopsis buski; Infectious Disease by Fasciolopsis; Infection by Fasciolopsis buski (disorder)
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction.
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metal metabolism disorder
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inborn metal metabolism disorder
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An inherited metabolic disorder that involves meta.. [+]An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
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10 articles
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liver inflammatory pseudotumor
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Inflammatory Pseudotumor of the Liver
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n_a
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dientamoebiasis
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intestinal trichomoniasis
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A parasitic protozoa infectious disease that invol.. [+]A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue.
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episodic ataxia
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Isaacs syndrome
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A hereditary ataxia characterized by sporadic bout.. [+]A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
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13 articles
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tenosynovitis
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Inflammation of tendon sheath
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n_a
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Fanconi syndrome
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Infantile nephropathic cystinosis; adult Fanconi s..
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Infantile nephropathic cystinosis; adult Fanconi syndrome; De Toni-Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Lignac-Fanconi syndrome; Congenital Fanconi syndrome (disorder); Congenital Fanconi syndrome; deToni Fanconi syndrome; adult Fanconi Anemia
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A renal tubular transport disease of the proximal .. [+]A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
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2 articles
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setariasis
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Infectious Disease by Setaria; Infectious Disease ..
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Infectious Disease by Setaria; Infectious Disease by Setaria (disorder)
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A filariasis that involves parasitic infection of .. [+]A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria.
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dirofilariasis
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Infection by Dirofilaria; Infection by Dirofilaria..
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Infection by Dirofilaria; Infection by Dirofilaria (disorder); Dirofilaria infectious disease
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A filariasis that is a zoonotic infection caused b.. [+]A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions.
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echinostomiasis
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Infection by Echinochasmus
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain.
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blood coagulation disease
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inherited blood coagulation disease; postpartum co..
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inherited blood coagulation disease; postpartum coagulation defect; postpartum coagulation defect with delivery; coagulation protein disease
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A hematopoietic system disease that is characteriz.. [+]A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
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trichuriasis
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Infection by Trichuris trichura; Trichuriasis infe..
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Infection by Trichuris trichura; Trichuriasis infection; Whipworm disease; trichuris trichiura infection
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation.
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trichostrongylosis
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Infection by Trichostrongylus; Infection by Tricho..
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Infection by Trichostrongylus; Infection by Trichostrongylus species; Trichostrongyliasis
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A trichostrongyloidiasis that involves infection o.. [+]A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia.
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hypersensitivity reaction type III disease
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immune complex disease
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A hypersensitivity reaction disease that is charac.. [+]A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury.
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thrombocytopenia due to platelet alloimmunization
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Immune thrombocytopenia; Immune thrombocytopenia (..
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Immune thrombocytopenia; Immune thrombocytopenia (disorder); Thrombocytopenia Due to Immune Destruction; Auto-immune thrombocytopenia
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n_a
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lymphadenitis
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Inflammation of lymph node; acute adenitis; acute ..
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Inflammation of lymph node; acute adenitis; acute lymphadenitis; Adenitis; chronic Lymphadenitis; chronic adenitis
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A lymph node disease that is characterized by an a.. [+]A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes.
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1 articles
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central nervous system tuberculosis
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intracranial tuberculoma; tuberculoma of brain; tu..
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intracranial tuberculoma; tuberculoma of brain; tuberculosis of meninges and central nervous system; Tuberculosis of meninges and central nervous system (disorder); tuberculous abscess of brain; Tuberculosis of meninges and central nervous system
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An extrapulmonary tuberculosis that results in for.. [+]An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord.
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ventricular septal defect
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Interventricular septal defect; Ventricular septal..
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Interventricular septal defect; Ventricular septal abnormality
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A heart septal defect characterized by an opening .. [+]A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
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cryptosporidiosis
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Infection by Cryptosporidium; intestinal cryptospo..
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Infection by Cryptosporidium; intestinal cryptosporidiosis; Infection by Cryptosporidium (disorder); Cryptosporidial gastroenteritis (disorder); Cryptosporidial gastroenteritis
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A coccidiosis that involves a parasitic protozoan .. [+]A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.
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conjunctival squamous cell carcinoma
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invasive squamous cell carcinoma of the conjunctiv..
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invasive squamous cell carcinoma of the conjunctiva; ocular surface squamous neoplasia; squamous cell carcinoma of conjunctiva; Conjunctival Epidermoid carcinoma
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A conjunctival cancer characterized by abnormal gr.. [+]A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane.
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ocular melanoma
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intraocular melanoma; eye melanoma; melanoma of ey..
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intraocular melanoma; eye melanoma; melanoma of eye
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An ocular cancer that has_material_basis_in melano.. [+]An ocular cancer that has_material_basis_in melanocytes and is located_in the eye.
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pancreatic endocrine carcinoma
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Islet cell carcinoma; Islet cell carcinoma (morpho..
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Islet cell carcinoma; Islet cell carcinoma (morphologic abnormality); carcinoma of endocrine pancreas (disorder); malignant neoplasm of islets of Langerhans; pancreatic neuroendocrine carcinoma; carcinoma of endocrine pancreas
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An islet cell tumor that has_material_basis_in epi.. [+]An islet cell tumor that has_material_basis_in epithelial cells.
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atrial heart septal defect
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interauricular septal defect; interatrial septal d..
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interauricular septal defect; interatrial septal defect; atrial septal defect; atrioseptal defect; congenital atrial septal defect; auricular septal defect
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A heart septal defect located_in in the septum tha.. [+]A heart septal defect located_in in the septum that separates the two atria of the heart.
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2 articles
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endodermal sinus tumor
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infantile embryonal carcinoma; Hepatoid yolk sac t..
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infantile embryonal carcinoma; Hepatoid yolk sac tumour; Yolk sac tumor; Yolk Sac neoplasm; Yolk sac tumour; endodermal sinus tumour; yolk sac tumor
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A germ cell cancer that has_material_basis_in cell.. [+]A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.
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