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DOID:0050664

Bietti crystalline corneoretinal dystrophy

Bietti's crystalline dystrophy EXACT []

DOID:0050665

fetal alcohol syndrome

A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_syndrome, url:http\://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf, url:http\://www.cdc.gov/ncbddd/fasd/facts.html]

DOID:0050666

partial fetal alcohol syndrome

A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. [url:http\://depts.washington.edu/fasdpn/htmls/fasd-fas.htm, url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, url:http\://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf]

DOID:0050667

alcohol-related neurodevelopmental disorder

A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, url:http\://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf]

static encephalopathy EXACT []

DOID:0050668

alcohol-related birth defect

A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. [url:http\://fasdcenter.samhsa.gov/documents/WYNKDiagnosis_5_colorJA_new.pdf, url:http\://www.cdc.gov/ncbddd/fasd/facts.html]

ARBD EXACT []

DOID:0050669

spastic cerebral palsy

A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. [url:http\://www.cerebralpalsylawdoctor.com/cerebral-palsy/spastic.html, url:http\://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html]

DOID:0050670

ataxic cerebral palsy

A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic, url:http\://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html]

hypotonic cerebral palsy EXACT []

DOID:0050671

female breast cancer

DOID:0050672

dyskinetic cerebral palsy

A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic]

Athetoid Dyskinetic Cerebral Palsy EXACT []

DOID:0050673

mixed cerebral palsy

A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. [url:http\://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy, url:http\://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html]

DOID:0050674

congenital bile acid synthesis defect

cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency EXACT []

DOID:0050675

Birk-Barel syndrome

BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME EXACT []

DOID:0050676

Birt-Hogg-Dube syndrome

DOID:0050677

Bjornstad syndrome

DOID:0050678

Blau syndrome

An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations. [url:http\://en.wikipedia.org/wiki/Blau_syndrome, url:http\://www.omim.org/entry/186580?search=186580&highlight=186580]

Jabs syndrome EXACT []

DOID:0050679

blue cone monochromacy

An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance. [url:http\://omim.org/entry/303700, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16]

DOID:0050680

Boomerang dysplasia

DOID:0050681

Borjeson-Forssman-Lehmann syndrome

An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. [url:http\://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1, url:http\://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html]

BORJESON SYNDROME EXACT []

DOID:0050682

Athabaskan brainstem dysgenesis syndrome

NAVAJO BRAINSTEM SYNDROME EXACT []

DOID:0050683

Bothnia retinal dystrophy

Vasterbotten dystrophy EXACT []

DOID:0050684

Bowen-Conradi syndrome

DOID:0050685

small cell carcinoma

A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. [url:http\://en.wikipedia.org/wiki/Small_cell_carcinoma]

Small cell carcinoma, intermediate cell (morphologic abnormality) EXACT [SNOMEDCT_2005_07_31:5958006]

DOID:0050686

organ system cancer

A cancer that is classified based on the organ it starts in. [url:http\://cancerguide.org/basic.html]

DOID:0050687

cell type cancer

A cancer that is classified by the type of cell from which it is derived. [url:http\://cancerguide.org/basic.html, url:http\://en.wikipedia.org/wiki/Cancer]

DOID:0050688

anal canal cancer

A large intestine cancer that is located_in the terminal part of the large intestine. [url:http\://en.wikipedia.org/wiki/Anal_canal]

DOID:0050689

brachydactyly-syndactyly syndrome

DOID:0050690

brachyolmia

An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. [url:http\://www.ncbi.nlm.nih.gov/pubmed/10968486]

brachyrachia EXACT []

DOID:0050691

branchiooculofacial syndrome

An autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts. [url:http\://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK55063/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract]

DOID:0050692

Brody myopathy

DOID:0050693

Brooke-Spiegler syndrome

DOID:0050694

Brown-Vialetto-Van Laere syndrome

DOID:0050695

malignant pleural solitary fibrous tumor

DOID:0050696

fetal alcohol spectrum disorder

A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. [url:http\://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder, url:http\://www.cdc.gov/ncbddd/fasd/facts.html]

DOID:0050697

chorioamnionitis

A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. [url:http\://en.wikipedia.org/wiki/Chorioamnionitis, url:http\://www.merriam-webster.com/medlineplus/Chorioamnionitis]

DOID:0050698

funisitis

A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. [url:http\://en.wikipedia.org/wiki/Funisitis]

DOID:0050699

Dent disease

A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. [url:http\://en.wikipedia.org/wiki/Dent%27s_disease, url:http\://ghr.nlm.nih.gov/condition/dent-disease, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652]

Dent's disease EXACT []

DOID:0050700

cardiomyopathy

A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. [url:http\://en.wikipedia.org/wiki/Cardiomyopathy, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cm/]

Cardiomyopathies EXACT [MSH:D009202]

DOID:0050701

electroclinical syndrome

An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. [url:http\://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795]

electro-clinical syndrome EXACT []

DOID:0050702

neonatal period electroclinical syndrome

An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. [JA:Epilepsy Genetics Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795, url:http\://www.ncbi.nlm.nih.gov/pubmed/22182677]

DOID:0050703

infancy electroclinical syndrome

An electroclinical syndrome with onset in infancy occurring between birth and one year of age. [JA:Epilepsy Genetics Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795]

DOID:0050704

childhood electroclinical syndrome

An electroclinical syndrome with onset in childhood between one and 12 years of age. [JA:Epilepsy Genetics Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795]

DOID:0050705

adolescence-adult electroclinical syndrome

An electroclinical syndrome with onset in adolescence and adulthood. [JA:Epilepsy_Genetics_Kiel, url:http\://www.ncbi.nlm.nih.gov/pubmed/20196795]

DOID:0050706

variable age at onset electroclinical syndrome

DOID:0050707

nonsyndromic epilepsy

DOID:0050708

early onset absence epilepsy

A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. [JA:Epilepsy Genetics Kiel, url:http\://www.ilae-epilepsy.org]

DOID:0050709

Ohtahara syndrome

A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. [url:http\://en.wikipedia.org/wiki/Ohtahara_syndrome, url:http\://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm]

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 EXACT []

DOID:0050710

3-Methylcrotonyl-CoA carboxylase deficiency

An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. [url:http\://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency, url:http\://omim.org/entry/210200]

BMCC deficiency EXACT []

DOID:0050711

aceruloplasminemia

An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. [url:http\://en.wikipedia.org/wiki/Aceruloplasminemia, url:http\://omim.org/entry/604290?search=604290&highlight=604290]

DOID:0050712

AGAT deficiency

An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. [url:http\://en.wikipedia.org/wiki/Arginine\:glycine_amidinotransferase#Deficiency, url:http\://omim.org/entry/612718?search=AGAT%20deficiency&highlight=deficiency%20agat]

CEREBRAL CREATINE DEFICIENCY SYNDROME 3 EXACT []

DOID:0050713

fatal infantile encephalocardiomyopathy

A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase. [url:http\://omim.org/entry/604377]

fatal infantile COX deficiency EXACT []

DOID:0050715

methylmalonic aciduria and homocystinuria type cblC

A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. [url:http\://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22]

Cobalamin C deficiency EXACT []

DOID:0050716

methylmalonic aciduria and homocystinuria type cblD

A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. [url:http\://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22, url:http\://www.ncbi.nlm.nih.gov/pubmed/18385497]

Cobalamin D deficiency EXACT []

DOID:0050717

methylmalonic aciduria and homocystinuria type cblF

A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). [url:http\://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=2&ved=0CFMQFjAB&url=http%3A%2F%2Fpreventiongenetics.com%2FClinicalTesting%2FTestDescriptions%2FLMBRD1.pdf&ei=hzv3T__xH4qk6wGIlqn2Bg&usg=AFQjCNEq6PEmU_PvWZSYQVIf2Uhf7Qxp7w&sig2=Ed-CTWsLgGVSkht-OW43gA]

Cobalamin F deficiency EXACT []

DOID:0050718

vitamin metabolic disorder

An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. [url:http\://en.wikipedia.org/wiki/Inborn_error_of_metabolism]

DOID:0050719

cerebral folate receptor alpha deficiency

A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. [url:http\://en.wikipedia.org/wiki/B_vitamins, url:http\://www.ncbi.nlm.nih.gov/pubmed/19732866]

DOID:0050720

ornithine translocase deficiency

An amino acid metabolic disorder that has_material_basis in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. [url:http\://en.wikipedia.org/wiki/Ornithine_translocase_deficiency, url:http\://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx]

Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome EXACT []

DOID:0050721

serine deficiency

An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. [url:http\://www.ncbi.nlm.nih.gov/pubmed/15021249]

DOID:0050722

PHGDH deficiency

A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. [url:http\://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase, url:http\://www.ncbi.nlm.nih.gov/pubmed?term=18296366, url:http\://www.omim.org/entry/601815]

PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY EXACT []

DOID:0050723

PSAT deficiency

A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/, url:http\://www.omim.org/entry/610992?search=610992&highlight=610992, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417]

Phosphoserine aminotransferase deficiency EXACT []

DOID:0050724

PSPH deficiency

A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. [url:http\://en.wikipedia.org/wiki/PSPH, url:http\://www.omim.org/entry/614023, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350]

PSPHD EXACT []

DOID:0050725

tyrosinemia type II

A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. [url:http\://en.wikipedia.org/wiki/Tyrosinemia_type_II, url:http\://www.omim.org/entry/276600?search=276600&highlight=276600]

Richner-Hanhart syndrome EXACT []

DOID:0050726

tyrosinemia type I

A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. [url:http\://en.wikipedia.org/wiki/Type_I_tyrosinemia]

hepatorenal tyrosinemia EXACT []

DOID:0050727

tyrosinemia type III

A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. [url:http\://en.wikipedia.org/wiki/Type_III_tyrosinemia, url:http\://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia]

DOID:0050728

glycogen metabolism disorder

A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. [url:http\://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism]

DOID:0050729

neutral lipid storage disease

A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. [url:http\://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome]

Chanarin-Dorfman syndrome EXACT []

DOID:0050730

coenzyme Q10 deficiency disease

A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. [url:http\://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity]

COENZYME Q10 DEFICIENCY, PRIMARY EXACT []

DOID:0050731

vitamin B12 deficiency

A vitamin metabolic disorder that results from low blood levels of vitamin B12. [url:http\://en.wikipedia.org/wiki/B12_deficiency]

hypocobalaminemia EXACT []

DOID:0050732

methylmalonic aciduria and homocystinuria type cblE

DOID:0050733

methylmalonic aciduria and homocystinuria type cblG

DOID:0050734

congenital intrinsic factor deficiency

A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. [url:http\://omim.org/entry/261000?search=261000&highlight=261000, url:http\://www.ncbi.nlm.nih.gov/pubmed/14695536, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332]

hereditary intrinsic factor deficiency EXACT []

DOID:0050735

X-linked disease

A monogenic disease that has_material_basis_in muations in genes on the X chromosome. [url:http\://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns]

DOID:0050736

autosomal dominant disease

An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. [url:http\://ghr.nlm.nih.gov/glossary=autosomaldominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns, url:http\://www.nlm.nih.gov/medlineplus/ency/article/002049.htm]

DOID:0050737

autosomal recessive disease

An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. [url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns, url:http\://www.nlm.nih.gov/medlineplus/ency/article/002052.htm]

DOID:0050738

Y-linked disease

A monogenic disease that has_material_basis_in muations on the Y chromosome. [url:http\://en.wikipedia.org/wiki/Genetic_disorder#Y-linked]

DOID:0050739

autosomal genetic disease

A monogenic disease that is caused by a mutation in a single gene on one of the non-sex chromosomes. [url:http\://ghr.nlm.nih.gov/glossary=autosomaldominant, url:http\://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns]

DOID:0050740

Qazi Markouizos syndrome

A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. [url:http\://omim.org/entry/600096, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010]

Qazi-Markouizos syndrome EXACT []

DOID:0050741

alcohol dependence

alcoholism EXACT []

DOID:0050742

nicotine dependence

tobacco use disorder EXACT [NSH:D014029]

DOID:0050743

mature T-cell and NK-cell lymphoma

A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. [url:http\://www.cancer.gov/dictionary?CdrID=393800, url:http\://www.cancer.gov/dictionary?CdrID=44062, url:http\://www.ncbi.nlm.nih.gov/pubmed/21919697]

NK-T cell lymphoma EXACT []

DOID:0050744

anaplastic large cell lymphoma

A non-Hodgkin lymphoma involving aberrant T-cells. [url:http\://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology]

DOID:0050745

diffuse large B-cell lymphoma

A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body. [url:http\://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma]

DOID:0050746

mantle cell lymphoma

A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. [url:http\://en.wikipedia.org/wiki/Mantle_cell_lymphoma]

DOID:0050747

lymphoplasmacytic lymphoma

A B-cell lymphocytic neoplasm characterized by an uncontrolled increase of B-cells. [url:http\://en.wikipedia.org/wiki/Lymphoplasmacytic_lymphoma]

Waldenström's macroglobulinemia EXACT []

DOID:0050748

marginal zone B-cell lymphoma

A B-cell lymphoma that is characterized by initial formation in the marginal zones of lymph tissue. [url:http\://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=562554]

marginal zone lymphoma EXACT []

DOID:0050749

peripheral T-cell lymphoma

A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. [url:http\://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma]

DOID:0050750

splenic marginal zone lymphoma

A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. [url:http\://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma]

DOID:0050751

T-cell large granular lymphocyte leukemia

A chronic lymphocytic leukemia that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. [url:http\://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia]

Large granular lymphocytic leukemia EXACT []

DOID:0050752

amyotrophic lateral sclerosis type 8

A type of ALS caused_by mutation located_in VAPB gene located_in chromosome 20. [url:http\://omim.org/entry/608627, utl:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis]

amyotrophic lateral sclerosis 8 EXACT [OMIM:608627]

DOID:0050753

cerebellar ataxia

A cerebellar disease characterized by ataxia originating in the cerebellum. [url:http\://en.wikipedia.org/wiki/Cerebellar_ataxia]

DOID:0050754

ataxia with oculomotor apraxia type 1

DOID:0050755

ataxia with oculomotor apraxia type 2

DOID:0050756

Batten disease

juvenile neuronal ceroid lipofuscinosis EXACT []

DOID:0050757

deafness dystonia syndrome

A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. [url:http\://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome, url:http\://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome, url:http\://omim.org/entry/304700, url:http\://www.ncbi.nlm.nih.gov/books/NBK1216/]

Mohr-Tranebjaerg Syndrome EXACT []

DOID:0050758

metabolic acidosis

A lactic acidosis that has_material_basis_in high levels of acid. [url:http\://en.wikipedia.org/wiki/Metabolic_acidosis]

DOID:0050759

myotonic dystrophy type 2

A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. [url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://omim.org/entry/602668, url:http\://www.ncbi.nlm.nih.gov/books/NBK1466/, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=545&Disease_Disease_Search_diseaseGroup=606&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)/group%20of%20diseases=Myotonic-dystrophy-type-2&title=Myotonic-dystrophy-type-2&search=Disease_Search_Simple]

proximal myotonic myopathy EXACT []

DOID:0050760

X-linked myopathy with excessive autophagy

XMEA EXACT []

DOID:0050761

paramyloidosis

DOID:0050762

adenylosuccinase lyase deficiency

DOID:0050763

ARC syndrome

A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene or caused_by homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.. [url:http\://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome, url:http\://omim.org/entry/208085, url:http\://omim.org/entry/613404, url:http\://www.ncbi.nlm.nih.gov/pubmed/16896922, url:http\://www.ncbi.nlm.nih.gov/pubmed/22753090, url:http\://www.ncbi.nlm.nih.gov/pubmed/24415890, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=2697]

Arthrogryposis-renal dysfunction-cholestasis EXACT []

DOID:0050764

Armfield syndrome

MRXSA EXACT [OMIM:300261]