| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
oculopharyngeal muscular dystrophy
|
Muscular dystrophy, oculopharyngeal; Oculopharynge..
[+]
Muscular dystrophy, oculopharyngeal; Oculopharyngeal muscular dystrophy (disorder)
[-]
|
n_a
|
|
|
|
distal myopathy
|
Miyoshi muscular dystrophy; distal myopathy; dista..
[+]
Miyoshi muscular dystrophy; distal myopathy; distal muscular dystrophy
[-]
|
A muscular dystrophy that is characterized by pred.. [+]A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.
[-]
|
|
|
|
glycogen storage disease VII
|
Muscle phosphofructokinase deficiency; Muscle phos..
[+]
Muscle phosphofructokinase deficiency; Muscle phosphofructokinase deficiency (disorder); Glycogen storage disease, type VII (disorder); phosphofructokinase myopathy; glycogen storage disease type VII; Glycogen storage disease, type VII; Glycogen storage disease 7
[-]
|
A glycogen storage disease that is characterized b.. [+]A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13.
[-]
|
|
|
|
Duchenne muscular dystrophy
|
Muscular dystrophy, Duchenne
|
A muscular dystrophy that has_material_basis_in X-.. [+]A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
[-]
|
1 articles
|
|
|
facioscapulohumeral muscular dystrophy
|
Muscular dystrophy, Landouzy-Dejerine; Landouzy De..
[+]
Muscular dystrophy, Landouzy-Dejerine; Landouzy Dejerine muscular dystrophy; Landouzy-Dejerine muscular dystrophy
[-]
|
n_a
|
2 articles
|
|
|
round ligament malignant neoplasm
|
malignant neoplasm of round ligament; malignant ne..
[+]
malignant neoplasm of round ligament; malignant neoplasm of round ligament (disorder); malignant neoplasm of round ligament of uterus
[-]
|
A uterine adnexa cancer that is located_in the rou.. [+]A uterine adnexa cancer that is located_in the round ligament.
[-]
|
|
|
|
bladder neck cancer
|
malignant tumor of bladder neck; malignant neoplas..
[+]
malignant tumor of bladder neck; malignant neoplasm of urinary bladder neck; malignant tumor of bladder neck (disorder)
[-]
|
n_a
|
|
|
|
urinary bladder posterior wall cancer
|
malignant neoplasm of posterior wall of urinary bl..
[+]
malignant neoplasm of posterior wall of urinary bladder; malignant neoplasm of posterior wall of urinary bladder (disorder)
[-]
|
n_a
|
|
|
|
bladder trigone cancer
|
malignant tumor of trigone of urinary bladder; mal..
[+]
malignant tumor of trigone of urinary bladder; malignant tumor of trigone of bladder; malignant tumor of trigone of urinary bladder (disorder); malignant tumor of trigone of bladder (disorder); malignant neoplasm of trigone of urinary bladder
[-]
|
n_a
|
|
|
|
urinary bladder anterior wall cancer
|
malignant neoplasm of anterior wall of urinary bla..
[+]
malignant neoplasm of anterior wall of urinary bladder; malignant neoplasm of anterior wall of urinary bladder (disorder)
[-]
|
n_a
|
|
|
|
urachus cancer
|
malignant tumor of urachus; malignant tumor of ura..
[+]
malignant tumor of urachus; malignant tumor of urachus (disorder)
[-]
|
n_a
|
|
|
|
ureteric orifice cancer
|
malignant tumor of ureteric orifice; malignant neo..
[+]
malignant tumor of ureteric orifice; malignant neoplasm of ureteric orifice of urinary bladder; malignant tumor of ureteric orifice (disorder); Orifice of the Ureter
[-]
|
n_a
|
|
|
|
ureter cancer
|
malignant tumour of ureter; malignant ureteral tum..
[+]
malignant tumour of ureter; malignant ureteral tumor
[-]
|
A urinary system cancer that is located_in the ure.. [+]A urinary system cancer that is located_in the ureter.
[-]
|
|
|
|
bladder dome cancer
|
malignant tumor of vault of bladder; malignant neo..
[+]
malignant tumor of vault of bladder; malignant neoplasm of dome of urinary bladder; malignant tumor of vault of bladder (disorder); malignant neoplasm of apex of urinary bladder; Superior Surface of bladder
[-]
|
n_a
|
|
|
|
glans penis cancer
|
malignant tumor of glans penis; malignant tumour o..
[+]
malignant tumor of glans penis; malignant tumour of glans penis; malignant tumor of glans penis (disorder); malignant neoplasm of glans penis
[-]
|
n_a
|
|
|
|
female breast nipple and areola cancer
|
malignant neoplasm of nipple and areola of female ..
[+]
malignant neoplasm of nipple and areola of female breast; malignant neoplasm of nipple or areola of female breast; malignant neoplasm of nipple or areola of female breast NOS (disorder); malignant neoplasm of nipple and areola of female breast (disorder)
[-]
|
A female breast cancer that is located_in the nipp.. [+]A female breast cancer that is located_in the nipple and areola.
[-]
|
|
|
|
labium majus cancer
|
malignant neoplasm of labia majora; malignant tumo..
[+]
malignant neoplasm of labia majora; malignant tumor of Labia Majora; malignant neoplasm of labia majora NOS (disorder); malignant neoplasm of labia majora (disorder)
[-]
|
A vulva cancer that is located_in the labium majus.. [+]A vulva cancer that is located_in the labium majus.
[-]
|
|
|
|
tracheal cancer
|
malignant tumor of trachea (disorder); malignant T..
[+]
malignant tumor of trachea (disorder); malignant Tracheal tumor; malignant neoplasm of trachea; Ca trachea; tracheal neoplasm
[-]
|
A respiratory system cancer that is located_in the.. [+]A respiratory system cancer that is located_in the trachea.
[-]
|
|
|
|
coloboma of optic nerve
|
Morning glory syndrome; Coloboma of optic disc
|
n_a
|
|
|
|
frontal lobe neoplasm
|
malignant neoplasm of frontal lobe (disorder); mal..
[+]
malignant neoplasm of frontal lobe (disorder); malignant neoplasm of frontal lobe; neoplasm of frontal lobe (disorder); tumor of Frontal Lobe; neoplasm of frontal lobe
[-]
|
n_a
|
|
|
|
sarcoid meningitis
|
Meningitis in sarcoidosis; Sarcoid meningitis (dis..
[+]
Meningitis in sarcoidosis; Sarcoid meningitis (disorder); Sarcoid meningitis
[-]
|
n_a
|
|
|
|
alveolar echinococcosis
|
Multilocular hydatid; alveolococcosis; echinococcu..
[+]
Multilocular hydatid; alveolococcosis; echinococcus multilocularis infection; small fox tapeworm
[-]
|
An echinococcosis that is caused by the larvae of .. [+]An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.
[-]
|
|
|
|
Blessig's cysts
|
Microcystoid retinal degeneration; Microcystoid de..
[+]
Microcystoid retinal degeneration; Microcystoid degeneration of retina; Blessig cysts; Iwanoff's cysts
[-]
|
n_a
|
|
|
|
carpal tunnel syndrome
|
Median nerve entrapment (disorder); Median nerve e..
[+]
Median nerve entrapment (disorder); Median nerve entrapment; carpal tunnel median neuropathy; Carpal tunnel syndrome; Carpal tunnel syndrome (disorder); CTS - Carpal tunnel syndrome
[-]
|
A nerve compression syndrome characterized by pres.. [+]A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm.
[-]
|
|
|
|
descending colon cancer
|
malignant tumor of descending colon; malignant tum..
[+]
malignant tumor of descending colon; malignant tumor of descending colon (disorder); malignant neoplasm of left colon; Ca descending colon (disorder); Ca descending colon
[-]
|
n_a
|
|
|
|
splenic flexure cancer
|
malignant tumor of splenic flexure; malignant tumo..
[+]
malignant tumor of splenic flexure; malignant tumor of splenic flexure (disorder); malignant neoplasm of splenic flexure; Ca splenic flexure - colon; Ca splenic flexure - colon (disorder)
[-]
|
n_a
|
|
|
|
sigmoid colon cancer
|
malignant tumor of sigmoid colon; malignant tumor ..
[+]
malignant tumor of sigmoid colon; malignant tumor of sigmoid colon (disorder); Ca sigmoid colon; Ca sigmoid colon (disorder)
[-]
|
n_a
|
|
|
|
testicular lymphoma
|
malignant lymphoma of testis; malignant lymphoma o..
[+]
malignant lymphoma of testis; malignant lymphoma of testis (disorder); lymphoma of the testis; testicular Lymphoma
[-]
|
n_a
|
|
|
|
intrahepatic gall duct cancer
|
malignant neoplasm of intrahepatic bile ducts; mal..
[+]
malignant neoplasm of intrahepatic bile ducts; malignant neoplasm of intrahepatic gall duct; malignant neoplasm of intrahepatic biliary passages (disorder); malignant neoplasm of intrahepatic gall duct (disorder); malignant neoplasm of intrahepatic biliary passages; malignant neoplasm of intrahepatic bile ducts NOS (disorder); Ca intrahepatic bile ducts (disorder); Ca intrahepatic bile ducts
[-]
|
n_a
|
|
|
|
hematocele of tunica vaginalis testis
|
male hematocele; Hematocele
|
n_a
|
|
|
|
dyscalculia
|
Mathematics disorder; disorder of arithmetical ski..
[+]
Mathematics disorder; disorder of arithmetical skills
[-]
|
A learning disability involving a math disability .. [+]A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page.
[-]
|
|
|
|
olecranon bursitis
|
Miner's elbow; Miners' elbow; Bursitis of elbow; B..
[+]
Miners' elbow; Miner's elbow; Bursitis of elbow; Bursitis of elbow region; Capped elbow; Elbow bursitis (& olecranon); Shoe boil; Elbow bursitis
[-]
|
n_a
|
|
|
|
paracoccidioidomycosis
|
Mucocutaneous-lymphangitic paracoccidioidomycosis; ..
[+]
Mucocutaneous-lymphangitic paracoccidioidomycosis; Mucocutaneous-lymphangitic paracoccidioidomycosis (disorder); Paracoccidioidomycosis (disorder); Paracoccidioidomycosis NOS (disorder); Paracoccidioidomycosis, unspecified (disorder); Paracoccidioidomycosis; paracoccidioidal mycosis
[-]
|
A primary systemic mycosis that results_in systemi.. [+]A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.
[-]
|
|
|
|
nephronophthisis
|
medullary cystic disease; medullary cystic kidney; ..
[+]
medullary cystic kidney; medullary cystic disease
[-]
|
A kidney disease that is characterized by a chroni.. [+]A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
[-]
|
8 articles
|
21 matches
|
|
Ellis-Van Creveld syndrome
|
mesoectodermal dysplasia; Chondroectodermal dyspla..
[+]
mesoectodermal dysplasia; Chondroectodermal dysplasia (disorder); Chondroectodermal dysplasia; Ellis-van Creveld syndrome
[-]
|
A syndrome characterized by short limbs, short rib.. [+]A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2.
[-]
|
|
|
|
lacrimal duct cancer
|
malignant tumor of lacrimal duct; malignant neopla..
[+]
malignant tumor of lacrimal duct; malignant neoplasm of lacrimal duct NOS (disorder); malignant neoplasm of lacrimal duct
[-]
|
n_a
|
|
|
|
choroid cancer
|
malignant tumor of choroid; malignant tumor of cho..
[+]
malignant tumor of choroid; malignant tumor of choroid (disorder); malignant tumor of the Choroid; choroid neoplasm; neoplasm of choroid (disorder); Choroidal tumor; neoplasm of choroid
[-]
|
n_a
|
|
|
|
Sly syndrome
|
mucopolysaccharidosis VII; MPS VII - Sly syndrome; ..
[+]
MPS VII - Sly syndrome; mucopolysaccharidosis VII; deficiency of beta-glucuronidase; beta-glucuronidase deficiency
[-]
|
A mucopolysaccharidosis characterized by a deficie.. [+]A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
[-]
|
|
|
|
Plasmodium ovale malaria
|
Malariaby Plasmodium ovale; Ovale malaria
|
A malaria characterized as a relatively mild form .. [+]A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously.
[-]
|
|
|
|
hereditary spherocytosis
|
Minkowski Chauffard syndrome; Congenital spherocyt..
[+]
Minkowski Chauffard syndrome; Congenital spherocytic hemolytic anemia; spherocytic anemia
[-]
|
A congenital hemolytic anemia characterized by the.. [+]A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
[-]
|
|
|
|
Plasmodium vivax malaria
|
Malaria by Plasmodium vivax; Vivax Malaria
|
A malaria that is caused by the protozoan parasite.. [+]A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.
[-]
|
|
|
|
intra-abdominal lymph node mast cell malignancy
|
malignant mast cell tumors involving intra-abdomin..
[+]
malignant mast cell tumors involving intra-abdominal lymph nodes; Mast cell malignancy of intra-abdominal lymph nodes; Mast cell malignancy of intra-abdominal lymph nodes (disorder)
[-]
|
n_a
|
|
|
|
eumycotic mycetoma
|
Mycotic mycetoma; maduromycosis; Maduromycosis, my..
[+]
maduromycosis; Mycotic mycetoma; Maduromycosis, mycotic; Madura foot; eumycetoma
[-]
|
A dermatomycosis that effects skin and subcutaneou.. [+]A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules.
[-]
|
|
|
|
scrotum melanoma
|
melanoma of scrotum
|
n_a
|
|
|
|
prepuce cancer
|
malignant tumor of foreskin; malignant neoplasm of..
[+]
malignant tumor of foreskin; malignant neoplasm of foreskin; malignant tumor of foreskin (disorder)
[-]
|
n_a
|
|
|
|
spermatic cord cancer
|
malignant tumor of the Spermatic Cord; malignant t..
[+]
malignant tumor of the Spermatic Cord; malignant tumor of spermatic cord; malignant tumor of spermatic cord (disorder); Spermatic cord Ca
[-]
|
n_a
|
|
|
|
hole retinal cyst
|
Macular cyst or hole; Macular pseudohole retinal c..
[+]
Macular cyst or hole; Macular pseudohole retinal cyst; Macular cyst, hole, or pseudohole of retina
[-]
|
n_a
|
|
|
|
laryngeal cartilage cancer
|
malignant neoplasm of laryngeal cartilages; malign..
[+]
malignant neoplasm of laryngeal cartilages; malignant tumor of laryngeal cartilage; malignant neoplasm of laryngeal cartilage; malignant tumor of laryngeal cartilage (disorder); malignant neoplasm of laryngeal cartilage NOS (disorder)
[-]
|
n_a
|
|
|
|
tinea profunda
|
Majocchi's granuloma; Deep seated dermatophytosis; ..
[+]
Majocchi's granuloma; Deep seated dermatophytosis; Granuloma trichophyticum
[-]
|
A tinea corporis that results_in fungal infection .. [+]A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses.
[-]
|
|
|
|
scrub typhus
|
Mite-borne typhus; Mite-borne rickettsiosis; Chigg..
[+]
Mite-borne rickettsiosis; Mite-borne typhus; Chigger-borne typhus; Scrub mite-borne typhus; Tsutsugamushi; Tsutsugamushi disease; Typhus fever due to Rickettsia tsutsugamushi; Kedani fever; Tropical typhus; Chigger-borne rickettsiosis; Japanese river fever; Scrub (mite-borne) typhus; Tsutsugamushi fever
[-]
|
A typhus that has_material_basis_in Orientia tsuts.. [+]A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy.
[-]
|
|
|
