| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
immunodeficiency 18
|
IMD18; CD3-epsilon deficiency
|
A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3.
[-]
|
|
|
|
immunodeficiency 17
|
IMD17; immunodeficiency 17, CD3 gamma deficient; C..
[+]
immunodeficiency 17, CD3 gamma deficient; IMD17; CD3-gamma deficiency; SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
[-]
|
A T cell deficiency characterized by partial T-cel.. [+]A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3.
[-]
|
|
|
|
immunodeficiency 65
|
immunodeficiency 65, susceptibility to viral infec..
[+]
immunodeficiency 65, susceptibility to viral infections; IMD65
[-]
|
A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12.
[-]
|
|
|
|
immunodeficiency 32B
|
immunodeficiency 32B, monocyte and dendritic cell ..
[+]
immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive; IMD32B; autosomal recessive IRF8 deficiency
[-]
|
A monocyte, dendritic cell, and NK cell deficiency.. [+]A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1.
[-]
|
|
|
|
immunodeficiency 13
|
IMD13; idiopathic CD4 lymphopenia; ICL
|
A T cell deficiency characterized by decreased CD4.. [+]A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2.
[-]
|
|
|
|
immunodeficiency 62
|
IMD62
|
A B cell deficiency characterized by onset late in.. [+]A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2.
[-]
|
|
|
|
immunodeficiency 55
|
IMD55; combined immunodeficiency due to GINS1 defi..
[+]
IMD55; combined immunodeficiency due to GINS1 deficiency
[-]
|
A combined immunodeficiency characterized by intra.. [+]A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21.
[-]
|
|
|
|
immunodeficiency 66
|
IMD66
|
A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2.
[-]
|
|
|
|
immunodeficiency 50
|
IMD50; immunodeficiency 50 X linked recessive; CID..
[+]
immunodeficiency 50 X linked recessive; IMD50; CID due to Moesin deficiency; combined immunodeficiency due to Moesin deficiency; MSN-related combined immunodeficiency; X-linked Moesin-associated immunodeficiency
[-]
|
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.
[-]
|
|
|
|
immunodeficiency 33
|
IMD33; X-linked mendelian susceptibility to mycoba..
[+]
IMD33; X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency; X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency; X-linked MSMD due to IKBKG deficiency; X-linked MSMD due to NEMO deficiency
[-]
|
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.
[-]
|
|
|
|
inflammatory bowel disease 30
|
inflammatory bowel disease (Crohn disease) 30; IBD..
[+]
inflammatory bowel disease (Crohn disease) 30; IBD30
[-]
|
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.
[-]
|
|
|
|
degenerative disc disease
|
intervertebral disc degeneration; cervical disc de..
[+]
intervertebral disc degeneration; cervical disc degenerative disease; lumbar disc degeneration; vertebral disc disease
[-]
|
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.
[-]
|
|
|
|
melanotic neuroectodermal tumor
|
Infantile Melanotic neuroectodermal neoplasm; Mela..
[+]
Infantile Melanotic neuroectodermal neoplasm; Melanotic neuroectodermal tumor (morphologic abnormality); Melanotic neuroectodermal tumor of infancy (morphologic abnormality); Pigmented neuroectodermal tumour of infancy
[-]
|
n_a
|
|
|
|
arthropathy
|
Infectious arthropathy; ankylosis of ankle and foo..
[+]
Infectious arthropathy; ankylosis of ankle and foot joint; 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 lower leg (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 shoulder region; Ankylosis of joint of shoulder region (disorder); Ankylosis of joint of upper arm (disorder); ankylosis of lower leg joint; Ankylosis of multiple joints; 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 pelvic region and thigh (disorder); Joint ankylosis of the shoulder region; Joint ankylosis of the shoulder region (disorder); Joint ankylosis of the upper arm; Joint ankylosis of the upper arm (disorder)
[-]
|
A bone inflammation disease that is located_in joi.. [+]A bone inflammation disease that is located_in joint.
[-]
|
|
|
|
renal tubular transport disease
|
inborn renal tubular transport disorder
|
n_a
|
|
|
|
primary immunodeficiency disease
|
immunodeficiency syndrome; immune deficiency disor..
[+]
immunodeficiency syndrome; immune deficiency disorder; hypoimmunity
[-]
|
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.
[-]
|
|
|
|
myositis
|
Inflammatory disorder of muscle; Inflammatory diso..
[+]
Inflammatory disorder of muscle; Inflammatory disorder of muscle (disorder)
[-]
|
A myopathy characterized by muscle inflammation.
|
|
|
|
purine-pyrimidine metabolic disorder
|
inborn errors of purine-pyrimidine metabolism
|
An inherited metabolic disorder involving dysfunct.. [+]An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
[-]
|
|
|
|
septic arthritis
|
infectious arthritis
|
An arthritis that involves infection by a pathogen.. [+]An arthritis that involves infection by a pathogen located_in joint.
[-]
|
|
|
|
arthritis
|
Inflammatory disorder of joint
|
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 and/or redness located_in skin over the joint.
[-]
|
|
|
|
metagonimiasis
|
Infection by Metagonimus yokogawai (disorder); Inf..
[+]
Infection by Metagonimus yokogawai (disorder); Infection by Metagonimus yokogawai
[-]
|
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.
[-]
|
|
|
|
fascioliasis
|
Infection by Fasciola; Infection by Fasciola (diso..
[+]
Infection by Fasciola; Infection by Fasciola (disorder); Fasciola hepatica infection (disorder); Liver flukes NOS; Liver flukes NOS (disorder); Sheep liver fluke infection; Fasciola hepatica infection; Liver flukes
[-]
|
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.
[-]
|
|
|
|
fasciolopsiasis
|
Infectious Disease by Fasciolopsis; Infection by F..
[+]
Infectious Disease by Fasciolopsis; Infection by Fasciolopsis buski (disorder)
[-]
|
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.
[-]
|
|
|
|
metal metabolism disorder
|
inborn metal metabolism disorder
|
An inherited metabolic disorder that involves meta.. [+]An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.
[-]
|
|
|
|
liver inflammatory pseudotumor
|
Inflammatory Pseudotumor of the Liver
|
n_a
|
|
|
|
dientamoebiasis
|
intestinal trichomoniasis
|
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.
[-]
|
|
|
|
episodic ataxia
|
Isaacs syndrome
|
A hereditary ataxia characterized by sporadic bout.. [+]A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
[-]
|
|
|
|
tenosynovitis
|
Inflammation of tendon sheath
|
n_a
|
|
|
|
Fanconi syndrome
|
Infantile nephropathic cystinosis; adult Fanconi A..
[+]
Infantile nephropathic cystinosis; adult Fanconi Anemia; adult Fanconi syndrome; Congenital Fanconi syndrome (disorder); De Toni-Fanconi syndrome; deToni Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Lignac-Fanconi syndrome
[-]
|
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.
[-]
|
|
|
|
setariasis
|
Infectious Disease by Setaria (disorder)
|
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.
[-]
|
|
|
|
dirofilariasis
|
Infection by Dirofilaria (disorder); Dirofilaria i..
[+]
Infection by Dirofilaria (disorder); Dirofilaria infectious disease
[-]
|
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.
[-]
|
|
|
|
echinostomiasis
|
Infection by Echinochasmus
|
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.
[-]
|
|
|
|
trichuriasis
|
Infection by Trichuris trichura; Trichuriasis infe..
[+]
Infection by Trichuris trichura; Trichuriasis infection; trichuris trichiura infection; Whipworm disease
[-]
|
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.
[-]
|
|
|
|
trichostrongylosis
|
Infection by Trichostrongylus species; Infection b..
[+]
Infection by Trichostrongylus species; Infection by Trichostrongylus; Trichostrongyliasis
[-]
|
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.
[-]
|
|
|
|
hypersensitivity reaction type III disease
|
immune complex disease
|
n_a
|
|
|
|
thrombocytopenia due to platelet alloimmunization
|
Immune thrombocytopenia; Immune thrombocytopenia (..
[+]
Immune thrombocytopenia; Immune thrombocytopenia (disorder); Auto-immune thrombocytopenia; Thrombocytopenia Due to Immune Destruction
[-]
|
n_a
|
|
|
|
lymphadenitis
|
Inflammation of lymph node; acute adenitis; acute ..
[+]
Inflammation of lymph node; acute adenitis; acute lymphadenitis; Adenitis; chronic adenitis; chronic Lymphadenitis
[-]
|
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.
[-]
|
|
|
|
central nervous system tuberculosis
|
intracranial tuberculoma; tuberculoma of brain; tu..
[+]
intracranial tuberculoma; tuberculoma of brain; tuberculosis of meninges and central nervous system; Tuberculosis of meninges and central nervous system (disorder); tuberculous abscess of brain
[-]
|
An extrapulmonary tuberculosis that results in for.. [+]An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord.
[-]
|
|
|
|
ventricular septal defect
|
Interventricular septal defect; Ventricular septal..
[+]
Interventricular septal defect; Ventricular septal abnormality
[-]
|
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.
[-]
|
|
|
|
congenital ichthyosiform erythroderma
|
Ichthyosiform erythroderma; Alligator skin; Congen..
[+]
Ichthyosiform erythroderma; Alligator skin; Congenital non bullous ichthyosiform erythroderma; Lamellar desquamation of the newborn; lamellar ichthyosis; nonbullous congenital ichthyosiform erythroderma
[-]
|
n_a
|
|
|
|
cryptosporidiosis
|
Infection by Cryptosporidium; intestinal cryptospo..
[+]
Infection by Cryptosporidium; intestinal cryptosporidiosis; Infection by Cryptosporidium (disorder); Cryptosporidial gastroenteritis (disorder); Cryptosporidial gastroenteritis
[-]
|
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.
[-]
|
|
|
|
conjunctival squamous cell carcinoma
|
invasive squamous cell carcinoma of the conjunctiv..
[+]
invasive squamous cell carcinoma of the conjunctiva; Conjunctival Epidermoid carcinoma; ocular surface squamous neoplasia; squamous cell carcinoma of conjunctiva
[-]
|
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.
[-]
|
|
|
|
ocular melanoma
|
intraocular melanoma; eye melanoma; melanoma of ey..
[+]
intraocular melanoma; eye melanoma; melanoma of eye
[-]
|
An ocular cancer that has_material_basis_in melano.. [+]An ocular cancer that has_material_basis_in melanocytes and is located_in the eye.
[-]
|
|
|
|
pancreatic endocrine carcinoma
|
Islet cell carcinoma (morphologic abnormality); ca..
[+]
Islet cell carcinoma (morphologic abnormality); carcinoma of endocrine pancreas (disorder); malignant neoplasm of islets of Langerhans; pancreatic neuroendocrine carcinoma
[-]
|
An islet cell tumor that has_material_basis_in epi.. [+]An islet cell tumor that has_material_basis_in epithelial cells.
[-]
|
|
|
|
atrial heart septal defect
|
interauricular septal defect; interatrial septal d..
[+]
interauricular septal defect; interatrial septal defect; atrial septal defect; atrioseptal defect; auricular septal defect; congenital atrial septal defect
[-]
|
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.
[-]
|
|
|
|
endodermal sinus tumor
|
infantile embryonal carcinoma; Hepatoid yolk sac t..
[+]
infantile embryonal carcinoma; Hepatoid yolk sac tumour; Yolk Sac neoplasm; Yolk sac tumor; endodermal sinus tumour; yolk sac tumor; Yolk sac tumour
[-]
|
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.
[-]
|
|
|
|
cerebral palsy
|
infantile cerebral palsy
|
A brain disease that is caused by damage to the mo.. [+]A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.
[-]
|
|
|
|
cystoisosporiasis
|
isosporiasis; Isosporosis; Infection by Isospora b..
[+]
Isosporosis; isosporiasis; Infection by Isospora belli and Isospora hominis
[-]
|
A coccidiosis that involves infection of the epith.. [+]A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss.
[-]
|
|
|
|
coccidiosis
|
intestinal coccidiosis; Coccidiosis (& [intestinal..
[+]
intestinal coccidiosis; Coccidiosis (& [intestinal])
[-]
|
A parasitic protozoa infectious disease that occur.. [+]A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection.
[-]
|
|
|
|
B cell deficiency
|
immunoglobulin heavy chain deletion; Immunoglobuli..
[+]
immunoglobulin heavy chain deletion; Immunoglobulin heavy chain deficiency (disorder); B cell (antibody) deficiencies
[-]
|
A primary immunnodeficiency disease that is caused.. [+]A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly.
[-]
|
|
|
