# Disease(DOID)
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Definition
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165
DOID:9165
neurotic excoriation
null
Factitious skin disease (disorder) EXACT [SNOMEDCT_2005_07_31:402736003]
DOID:9169
Wiskott-Aldrich syndrome
null
Wiskott syndrome EXACT [CSP2005:1849-0285]
DOID:917
liver leiomyoma
null
leiomyoma of the Liver EXACT [NCI2004_11_17:C5753]
DOID:9173
submandibular gland cancer
null
malignant tumor of the Submandibular gland EXACT [NCI2004_11_17:C3526]
DOID:9174
rectum carcinoma in situ
null
Severe Rectal Dysplasia EXACT [NCI2004_11_17:C4853]
DOID:918
liver inflammatory pseudotumor
null
Inflammatory Pseudotumor of the Liver EXACT [NCI2004_11_17:C5858]
DOID:9180
amebic colitis
An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon. [url:http\://www.dpd.cdc.gov/DPDx/HTML/Amebiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch185/ch185b.html?qt=amebic%20colitis&alt=sh]
amoebic colitis EXACT []
DOID:9181
amebiasis
A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. [url:http\://en.wikipedia.org/wiki/Amoebiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000298.htm]
entamoebiasis EXACT []
DOID:9182
pemphigus
null
null
DOID:9184
sleep arousal disorder
null
null
DOID:9186
Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb
null
Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder) EXACT [SNOMEDCT_2005_07_31:93543003]
DOID:9188
vestibule of mouth cancer
null
malignant tumor of vestibule of mouth (disorder) EXACT [SNOMEDCT_2005_07_31:187658004]
DOID:9189
generalized hyperhidrosis
null
Generalized hyperhidrosis (disorder) EXACT [SNOMEDCT_2005_07_31:274673004]
DOID:9191
diabetic macular edema
null
null
DOID:9192
dyskinesia of esophagus
null
Oesophageal motor disorder EXACT [SNOMEDCT_2005_07_31:40846004]
DOID:9195
Herpes simplex virus keratitis
A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness. [url:http\://emedicine.medscape.com/article/1194268-overview]
ocular herpes simplex EXACT []
DOID:9198
Sezary's disease involving intrathoracic lymph nodes
null
Szary's disease of intrathoracic lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:95258007]
DOID:9199
cataplexy and narcolepsy
null
null
DOID:92
speech disorder
A communication disorder that involves difficulty with the act of speech production. [url:http\://en.wikipedia.org/wiki/Speech_disorders]
null
DOID:920
childhood liver neoplasm
null
null
DOID:9201
lichen planus
A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. [url:http\://en.wikipedia.org/wiki/Lichen_planus]
Lichen, ruber planus EXACT [MTHICD9_2006:697.0]
DOID:9202
disorder of optic chiasm associated with pituitary neoplasm and disorder
null
null
DOID:9203
Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes
null
Burkitt's lymphoma of intra-abdominal lymph nodes (disorder) EXACT [SNOMEDCT_2005_07_31:188512009]
DOID:9206
Barrett's esophagus
null
CLE EXACT [NCI2004_11_17:C2891]
DOID:9207
periodic limb movement disorder
A sleep disorder that involves involuntary limb movement during sleep. [url:http\://en.wikipedia.org/wiki/Periodic_limb_movement_disorder]
nocturnal myoclonus EXACT []
DOID:9210
geniculate herpes zoster
A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache. [url:http\://emedicine.medscape.com/article/1166804-overview, url:http\://www.ramsayhunt.org/what.shtml]
Ramsay Hunt syndrome type II EXACT []
DOID:9212
pityriasis rubra pilaris
null
Pityriasis rubra pilaris (disorder) EXACT [SNOMEDCT_2005_07_31:3755001]
DOID:9214
Herpes simplex virus iridocyclitis
A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision. [url:http\://books.google.com/books?id=ydim6J7sFS4C&pg=PA504&lpg, url:http\://en.wikipedia.org/wiki/Iridocyclitis]
Herpes simplex iridocyclitis (disorder) EXACT [SNOMEDCT_2005_07_31:13608004]
DOID:9216
Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck
null
Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face, and neck RELATED []
DOID:9217
herpes zoster eyelid dermatitis
A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection. [url:http\://www.ophthalmic.hyperguides.com/tutorials/oculoplastics/eyelid_infections/tutorial.asp?module=pain]
Herpes zoster with dermatitis of eyelid (disorder) EXACT [SNOMEDCT_2005_07_31:186525007]
DOID:9220
central sleep apnea
A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. [url:http\://en.wikipedia.org/wiki/Central_sleep_apnea, url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/]
primary central sleep apnea EXACT []
DOID:9222
lymphosarcoma involving lymph nodes of inguinal region and lower limb
null
null
DOID:9224
vulva herpetic infectious disease
A genital herpes that results_in infection located_in skin of vulva, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom lesions. [url:http\://www.merck.com/mmhe/sec17/ch198/ch198e.html]
Herpetic ulceration of vulva (disorder) EXACT [SNOMEDCT_2005_07_31:59819007]
DOID:9225
Hodgkin's sarcoma involving intrapelvic lymph nodes
null
null
DOID:9227
Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck
null
Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face, and neck RELATED []
DOID:9228
congenital rubella
A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester. [url:http\://en.wikipedia.org/wiki/Congenital_rubella]
Gestational rubella syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:1857005]
DOID:9230
dyshidrosis
null
Vesicular eczema of hands and/or feet (disorder) EXACT [SNOMEDCT_2005_07_31:402567004]
DOID:9234
kidney carcinoma in situ
null
carcinoma in situ of other and unspecified urinary organs (disorder) EXACT [SNOMEDCT_2005_07_31:190185006]
DOID:9235
pyriform sinus cancer
null
malignant tumor of pyriform fossa (disorder) EXACT [SNOMEDCT_2005_07_31:363401000]
DOID:9240
erythromelalgia
null
Erythromelalgia (disorder) EXACT [SNOMEDCT_2005_07_31:37151006]
DOID:9241
reticulosarcoma involving lymph nodes of axilla and upper limb
null
Reticulosarcoma of lymph nodes of axilla and upper limb (disorder) EXACT [SNOMEDCT_2005_07_31:95227006]
DOID:9245
Alagille syndrome
A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. [url:http\://digestive.niddk.nih.gov/DDISEASES/pubs/alagille/]
Arteriohepatic dysplasia (disorder) EXACT [SNOMEDCT_2005_07_31:31742004]
DOID:9246
cerebral amyloid angiopathy
An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. [OMIM:605714, url:http\://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy]
Hereditary cerebral haemorrhage with amyloidosis - Dutch type (disorder) EXACT [SNOMEDCT_2005_07_31:56453003]
DOID:9248
Pallister-Hall syndrome
null
Pallister-Hall syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:56677004]
DOID:9249
Beemer-Langer syndrome
A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. [url:http\://en.wikipedia.org/wiki/Short_rib_%E2%80%93_polydactyly_syndrome, url:http\://www.springerlink.com/content/e0hmfh4fcl7m4kjw/]
type IV short rib polydactyly syndrome (disorder) EXACT [SNOMEDCT_2005_07_31:254052001]
DOID:9250
acrocallosal syndrome
A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. [url:http\://en.wikipedia.org/wiki/Acrocallosal_syndrome]
Schinzel syndrome 1 EXACT [MTH:NOCODE]
DOID:9252
amino acid metabolic disorder
An inherited metabolic disorders which impair the synthesis and degradation of amino acids. [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism]
inborn errors of amino acid metabolism EXACT []
DOID:9253
gastrointestinal stromal tumor
null
Stromal tumor of gastrointestinal tract EXACT [NCI2004_11_17:C3868]
DOID:9254
mast-cell leukemia
A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. [url:http\://medical-dictionary.thefreedictionary.com/mast+cell+leukemia]
null
DOID:9255
frontotemporal dementia
A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. [url:http\://en.wikipedia.org/wiki/Frontotemporal_dementia, url:http\://www.ncbi.nlm.nih.gov/pubmed/21121521, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract]
Wilhemsen-Lynch disease EXACT []
DOID:9256
colorectal cancer
A large intestine cancer that is located_in the colon and/or located_in the rectum. [url:http\://www.cancer.gov/dictionary?CdrID=444983]
null
DOID:9258
Waardenburg's syndrome
An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. [url:http\://en.wikipedia.org/wiki/Waardenburg_syndrome, url:http\://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract]
Waardenburg-Klein syndrome EXACT []
DOID:9261
nasopharynx carcinoma
A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or \throat\", where the nasal passages and auditory tubes join the remainder of the upper respiratory tract." [url:http\://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma]
primary malignant neoplasm of anterior wall of nasopharynx EXACT [SNOMEDCT_2005_07_31:93674007]
DOID:9263
homocystinuria
An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. [url:http\://en.wikipedia.org/wiki/Homocystinuria]
Homocystinuria (disorder) EXACT [SNOMEDCT_2005_07_31:11282001]
DOID:9264
sulfuraminoacidemia
null
Sulphuraminoacidaemia EXACT [SNOMEDCT_2005_07_31:28882002]
DOID:9265
histidine metabolism disease
An amino acid metabolic disorder that involves deficiency in histidine. [url:http\://en.wikipedia.org/wiki/Histidine#Metabolism]
Disturbances of histidine metabolism EXACT [ICD9CM_2006:270.5]
DOID:9266
cystinuria
An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. [url:http\://en.wikipedia.org/wiki/Cystinuria]
null
DOID:9267
urea cycle disorder
An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. [url:http\://en.wikipedia.org/wiki/Urea_cycle_disorder]
urea cycle defect EXACT []
DOID:9268
glycine encephalopathy
An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. [url:http\://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia]
nonketotic hyperglycinemia EXACT [CSP2005:1849-0664]
DOID:9269
maple syrup urine disease
An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease]
Ketoacidaemia EXACT [SNOMEDCT_2005_07_31:27718001]
DOID:927
metastatic malignant neoplasm to brain
null
secondary malignant neoplasm of brain (disorder) EXACT [SNOMEDCT_2005_07_31:94225005]
DOID:9270
alkaptonuria
An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. [url:http\://en.wikipedia.org/wiki/Alkaptonuria]
Homogentisate 1,2-dioxygenase deficiency EXACT [SNOMEDCT_2005_07_31:267418001]
DOID:9271
ornithine carbamoyltransferase deficiency
An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. [url:http\://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency]
ornithine transcarbamylase deficiency EXACT [CSP2005:1849-9662]
DOID:9273
citrullinemia
An urea cycle disorder that involves the accumulation of ammonia in the blood. [url:http\://en.wikipedia.org/wiki/Citrullinemia]
deficiency of citrulline-aspartate ligase EXACT [SNOMEDCT_2005_07_31:124711003]
DOID:9274
hyperlysinemia
An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. [url:http\://en.wikipedia.org/wiki/Hyperlysinemia]
null
DOID:9275
tyrosinemia
An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. [url:http\://en.wikipedia.org/wiki/Tyrosinemia]
null
DOID:9277
primary cerebellar degeneration
null
null
DOID:9278
hyperargininemia
An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. [url:http\://www.medlink.com/medlinkcontent.asp]
deficiency of canavanase EXACT [SNOMEDCT_2005_07_31:124518006]
DOID:9279
hyperhomocysteinemia
An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. [url:http\://en.wikipedia.org/wiki/Hyperhomocysteinemia]
null
DOID:928
CNS metastases
null
metastatic tumor to the CNS EXACT [NCI2004_11_17:C4015]
DOID:9280
carbamoyl phosphate synthetase I deficiency disease
An amino acid metabolic disorder that involves accumulation of ammonia in the blood. [url:http\://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency]
CPS I deficiency EXACT []
DOID:9281
phenylketonuria
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. [url:http\://en.wikipedia.org/wiki/Phenylketonuria]
PKU EXACT [MTHICD9_2006:270.1]
DOID:9282
ocular hypertension
null
null
DOID:9283
borderline glaucoma
null
Preglaucoma EXACT [SNOMEDCT_2005_07_31:359633007]
DOID:9286
priapism
A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. [url:http\://en.wikipedia.org/wiki/Priapism, url:http\://my.clevelandclinic.org/disorders/priapism/hic_priapism.aspx]
Priapism (disorder) EXACT [SNOMEDCT_2005_07_31:6273006]
DOID:9287
penile vascular disorder
null
vascular disorder of penis EXACT [ICD9CM_2006:607.82]
DOID:929
myopathy of extraocular muscle
null
Myopathy of extraocular muscles (disorder) EXACT [SNOMEDCT_2005_07_31:57130002]
DOID:9296
cleft lip
null
Labium leporinum EXACT [MTHICD9_2006:749.1]
DOID:9297
lip disease
null
Lip disorder EXACT [NCI2004_11_17:C26818]
DOID:9299
myocardium cancer
null
tumor of Myocardium EXACT [NCI2004_11_17:C5349]
DOID:93
language disorder
A communication disorder that involves the processing of linguistic information. [url:http\://en.wikipedia.org/wiki/Language_disorder]
null
DOID:930
orbital disease
An adnexa disease that is located_in the eye socket. [url:http\://www.hopkinsmedicine.org/wilmer/services/oculofacial_plastic_surgery/reconstructive/orbital_disease.html]
null
DOID:9300
neurofibroma of the heart
null
Neurofibroma of Heart EXACT [NCI2004_11_17:C5359]
DOID:9305
splenic tuberculosis
An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. [url:http\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf]
null
DOID:9306
mechanical strabismus
null
null
DOID:9307
rectal prolapse
null
Procidentia, rectum EXACT [MTHICD9_2006:569.1]
DOID:931
monieziasis
A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep. [url:http\://www.ncbi.nlm.nih.gov/pubmed/15287174, url:http\://www.online-medical-dictionary.org/Monieziasis.asp?q=Monieziasis]
null
DOID:9310
nasal cavity neoplasm
null
tumor of the nasal cavity EXACT [NCI2004_11_17:C4413]
DOID:9312
chronic ethmoiditis
A ethmoid sinusitis which lasts for 12 weeks or more. [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html]
ethmoidal sinusitis - chronic EXACT [SNOMEDCT_2005_07_31:266384001]
DOID:9314
glaucoma associated with anomalies of iris
null
Glaucoma associated with anomalies of iris (disorder) EXACT [SNOMEDCT_2005_07_31:26467009]
DOID:9317
lymphangitis
A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. [url:http\://en.wikipedia.org/wiki/Lymphangitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Lymphangitis]
Lymphangitis NOS EXACT [SNOMEDCT_2005_07_31:266335009]
DOID:9321
intervertebral disc disorder
null
displacement of thoracic or lumbar intervertebral disc without myelopathy EXACT []
DOID:933
Cestoda infectious disease
A parasitic helminthiasis infectious disease that involves infection by parasitic flatworms known as tapeworms living in the vertebrate digestive tract. [url:http\://en.wikipedia.org/wiki/Cestodes]
Unspecified teniasis (disorder) EXACT [SNOMEDCT_2005_07_31:187150005]
DOID:9335
scotoma
null
Sector or arcuate visual field defects EXACT []
DOID:9336
bestiality
null
Zoophilia EXACT [ICD9CM_2006:302.1]
DOID:9339
urethral false passage
null
null
DOID:934
viral infectious disease
A disease by infectious agent that results_in infection, has_material_basis_in Viruses. [url:http\://www.merck.com/mmhe/sec17/ch198/ch198a.html]
virus infection EXACT [CSP2005:3099-7852]
DOID:9340
cheilopalatoschisis
null
Unilateral incomplete cleft palate with cleft lip (disorder) EXACT [SNOMEDCT_2005_07_31:204613000]
DOID:9341
urethral diverticulum
null
null
DOID:9346
Taylor's syndrome
null
Taylor syndrome EXACT []