sábado, 7 de dezembro de 2019

Doença s rarasCC


Aagenaes

https://en.wikipedia.org/wiki/Aagenaes_syndrome

https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome

https://www.news-medical.net/health/What-is-Aagenaes-Syndrome-(Portuguese).aspx



Aaarskog Syndrome

https://rarediseases.org/rare-diseases/aarskog-syndrome/

https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome

https://en.wikipedia.org/wiki/Aarskog–Scott_syndrome

https://www.news-medical.net/health/Aarskog-Syndrome-Causes-and-Diagnosis-(Portuguese).aspx

https://www.winchesterhospital.org/health-library/article?id=22572

http://pennstatehershey.adam.com/content.aspx?productid=117&pid=1&gid=001654



Abetalipoproteinemia

https://pt.wikipedia.org/wiki/Síndrome_de_Bassen-Kornzweig

https://en.wikipedia.org/wiki/Abetalipoproteinemia

https://bestpractice.bmj.com/topics/pt-br/471

https://rarediseases.info.nih.gov/diseases/5/abetalipoproteinemia

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-3-19

https://www.aao.org/disease-review/abetalipoproteinemia



Ablepharon-Macrostomia Syndrome

https://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/

https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome

https://rarediseases.info.nih.gov/diseases/3/ablepharon-macrostomia-syndrome

https://rarediseases.info.nih.gov/diseases/3/ablepharon-macrostomia-syndrome

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3504267/

https://www.genome.jp/dbget-bin/www_bget?ds:H01932

https://www.aao.org/disease-review/ablepharon-macrostomia-syndrome



Acanthocheilonemiasis

https://en.wikipedia.org/wiki/Acanthocheilonemiasis

https://rarediseases.org/rare-diseases/acanthocheilonemiasis/

https://www.medigoo.com/articles/acanthocheilonemiasis/

https://www.semanticscholar.org/topic/Acanthocheilonemiasis/3060461



Acanthosis Nigricans

https://en.wikipedia.org/wiki/Acanthosis_nigricans

https://www.mayoclinic.org/diseases-conditions/acanthosis-nigricans/symptoms-causes/syc-20368983

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962002000500003

https://www.healthline.com/health/acanthosis-nigricans

https://www.webmd.com/skin-problems-and-treatments/acanthosis-nigricans-overview

 https://dermnetnz.org/topics/acanthosis-nigricans/

https://www.medicalnewstoday.com/articles/324062.php

https://rarediseases.org/rare-diseases/acanthosis-nigricans/



Aceruloplasminemia

https://ghr.nlm.nih.gov/condition/aceruloplasminemia

https://rarediseases.org/rare-diseases/aceruloplasminemia/

https://www.infoescola.com/doencas/aceruloplasminemia/

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842011000500017

https://www.frontiersin.org/articles/10.3389/fnins.2019.00325/full

https://www.news-medical.net/health/What-is-Aceruloplasminemia-(Portuguese).aspx



Achalasia

https://en.wikipedia.org/wiki/Esophageal_achalasia

https://reference.medscape.com/article/169974-overview

https://rarediseases.org/rare-diseases/achalasia

https://www.medicinenet.com/achalasia/article.htm#what_is_the_definition_of_achalasia

https://www.uptodate.com/contents/achalasia-beyond-the-basics



Achard Thiers Syndrome

https://rarediseases.org/rare-diseases/achard-thiers-syndrome/

https://rarediseases.info.nih.gov/diseases/5709/achard-thiers-syndrome

https://www.dovemed.com/diseases-conditions/achard-thiers-syndrome/

 https://patientworthy.com/achard-thiers-syndrome/

https://www.symptoma.com/en/info/achard-thiers-syndrome#treatment



Achondrogenesis

https://ghr.nlm.nih.gov/condition/achondrogenesis

https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis

https://en.wikipedia.org/wiki/Achondrogenesis

https://www.healthline.com/health/achondrogenesis

https://emedicine.medscape.com/article/941176-overview



Achondroplasia

https://en.wikipedia.org/wiki/Achondroplasia

https://ghr.nlm.nih.gov/condition/achondroplasia

https://rarediseases.info.nih.gov/diseases/8173/achondroplasia

https://www.healthline.com/health/achondroplasia

https://rarediseases.org/rare-diseases/achondroplasia/

https://emedicine.medscape.com/article/1258401-overview

https://www.stanfordchildrens.org/en/topic/default?id=achondroplasia-90-P01938



Acid Sphingomyelinase Deficiency(deficiência em esfingomielinase acida)

https://rarediseases.org/rare-diseases/acid-sphingomyelinase-deficiency/

https://www.ncbi.nlm.nih.gov/books/NBK1370

https://www.ncbi.nlm.nih.gov/books/NBK1370/

https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0572-x

https://checkrare.com/acid-sphingomyelinase-deficiency/

https://www.nature.com/articles/gim20177



Acidemia Isovaleric

https://ghr.nlm.nih.gov/condition/isovaleric-acidemia

https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia

https://rarediseases.org/rare-diseases/acidemia-isovaleric/

https://en.wikipedia.org/wiki/Isovaleric_acidemia

https://www.babysfirsttest.org/newborn-screening/conditions/isovaleric-acidemia

https://www.e-imd.org/diseases/organic-acidurias-oads/isovaleric-acidemia-iva

https://www.babysfirsttest.org/newborn-screening/conditions/isovaleric-acidemia



Acidemia, Methylmalonic

https://en.wikipedia.org/wiki/Methylmalonic_acidemia

https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia

https://rarediseases.info.nih.gov/diseases/7033/methylmalonic-acidemia

https://emedicine.medscape.com/article/1161799-overview

 https://rarediseases.org/rare-diseases/acidemia-methylmalonic/

https://ww.newbornscreening.info/Parents/organicaciddisorders/MMA.html

https://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=27
 https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0130-8



Acoustic Neuroma

https://en.wikipedia.org/wiki/Vestibular_schwannoma

https://en.wikipedia.org/wiki/Vestibular_schwannoma

https://www.webmd.com/brain/acoustic-neuroma-causes-symptoms-treatments#1

https://www.hopkinsmedicine.org/health/conditions-and-diseases/brain-tumor/vestibular-schwannoma

https://www.nidcd.nih.gov/health/vestibular-schwannoma-acoustic-neuroma-and-neurofibromatosis

https://emedicine.medscape.com/article/882876-overview

 https://www.nhs.uk/conditions/acoustic-neuroma/

https://rarediseases.org/rare-diseases/acoustic-neuroma/



Acquired Aplastic Anemia

https://rarediseases.org/rare-diseases/acquired-aplastic-anemia/

https://en.wikipedia.org/wiki/Aplastic_anemia

https://www.frontiersin.org/articles/10.3389/fonc.2018.00587/full

 https://www.medscape.com/answers/198759-44175/what-are-acquired-causes-of-aplastic-anemia

https://ashpublications.org/blood/article/129/11/1428/35931/How-I-treat-acquired-aplastic-anemia

https://accessmedicine.mhmedical.com/content.aspx?bookid=1581&sectionid=94303673

https://www.onkopedia-guidelines.info/en/onkopedia/guidelines/aplastic-anemia-diagnostics-and-therapy-of-acquired-aplastic-anemia/@@guideline/html/index.html



Acquired Hemophilia

https://rarediseases.org/rare-diseases/acquired-hemophilia/

https://emedicine.medscape.com/article/211186-overview

http://www1.wfh.org/publications/files/pdf-1186.pdf

https://www.rarebleedingdisorders.com/bleeding-disorders/acquired-hemophilia.html

https://hemophilianewstoday.com/types-of-hemophilia/acquired-hemophilia/

https://www.cureus.com/articles/22035-acquired-hemophilia-a-a-rare-but-potentially-fatal-bleeding-disorder

Acquired Lipodystrophy

https://rarediseases.org/rare-diseases/acquired-lipodystrophy/

https://www.webmd.com/diabetes/acquired-lipodystrophy#1

https://en.wikipedia.org/wiki/Acquired_generalized_lipodystrophy

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79086

Acquired Neuromyotonia

https://rarediseases.org/rare-diseases/acquired-neuromyotonia/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=84142

https://jamanetwork.com/journals/jamaneurology/fullarticle/1754700

https://n.neurology.org/content/65/8/1330

https://www.thelancet.com/journals/unidentified_journal/article/PII0140-6736(91)90073-X/fulltext

https://brainfoundation.org.au/images/stories/applicant_essays/2012_essays/Acquired_Neuromyotonia_-_Jankelowitz_Stacey.pdf

https://casesjournal.biomedcentral.com/articles/10.4076/1757-1626-2-7952



Acrocallosal Syndrome, Schinzel Type

https://rarediseases.org/rare-diseases/acrocallosal-syndrome-schinzel-type/

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=405&MISSING%20CONTENT=Acrocallosal-syndrome--Schinzel-type&search=Disease_Search_Simple&title=Acrocallosal-syndrome--Schinzel-type

https://ghr.nlm.nih.gov/condition/acrocallosal-syndrome

https://rarediseases.info.nih.gov/diseases/5721/acrocallosal-syndrome-schinzel-type

https://diseasesdic.com/acrocallosal-syndrome-causes-symptoms-and-treatment/



Acrodermatitis Enteropathica

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902399/

https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica

https://rarediseases.org/rare-diseases/acrodermatitis-enteropathica/

https://emedicine.medscape.com/article/1102575-overview

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=37

https://dermnetnz.org/topics/acrodermatitis-enteropathica/

http://www.scielo.br/scielo.php?pid=S0103-05822018005001111&script=sci_arttext&tlng=en

https://www.sciencedirect.com/topics/medicine-and-dentistry/acrodermatitis-enteropathica

https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/pediatrics/acrodermatitis-enteropathica/



Acrodysostosis

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=950

https://en.wikipedia.org/wiki/Acrodysostosis

https://rarediseases.org/rare-diseases/acrodysostosis/

Acromegaly

https://en.wikipedia.org/wiki/Acromegaly

https://www.mayoclinic.org/diseases-conditions/acromegaly/symptoms-causes/syc-20351222

https://www.niddk.nih.gov/health-information/endocrine-diseases/acromegaly

https://rarediseases.org/rare-diseases/acromegaly/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=963

https://dermnetnz.org/topics/acromegaly/


Acromesomelic Dysplasia

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93436

https://radiopaedia.org/articles/short-limb-skeletal-dysplasia

https://anr.fr/Colloques/BioSante2011/posters/68_RECUEIL-POSTERS-BIOSANTE-2011.pdf


ACTH Deficiency

https://rarediseases.org/rare-diseases/acth-deficiency/

https://en.wikipedia.org/wiki/Adrenocorticotropic_hormone_deficiency

https://

.biomedcentral.com/articles/10.1186/s12902-015-0082-6

https://www.sciencedirect.com/topics/medicine-and-dentistry/corticotropin-deficiency

https://www.medscape.com/answers/923789-124114/how-is-adrenocorticotropic-hormone-acth-deficiency-assessed-in-patients-with-panhypopituitarism

https://www.dovepress.com/a-case-of-isolated-adrenocorticotropic-hormone-deficiency-a-rare-but-p-peer-reviewed-fulltext-article-IMCRJ

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199299


Acute acalculous Cholecystitis

https://emedicine.medscape.com/article/171886-overview

https://www.msdmanuals.com/professional/hepatic-and-biliary-disorders/gallbladder-and-bile-duct-disorders/acute-cholecystitis

https://www.nhs.uk/conditions/acute-cholecystitis/

https://en.wikipedia.org/wiki/Cholecystitis

https://www.mayoclinic.org/diseases-conditions/cholecystitis/symptoms-causes/syc-20364867

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1124163


Acute Disseminated Encephalomyelitis

https://emedicine.medscape.com/article/1147044-overview

https://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis

https://my.clevelandclinic.org/health/diseases/14266-acute-disseminated-encephalomyelitis-adem

https://rarediseases.org/rare-diseases/acute-disseminated-encephalomyelitis/

https://n.neurology.org/content/87/9_Supplement_2/S38


Acrodysostosis

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=950

https://en.wikipedia.org/wiki/Acrodysostosis

https://rarediseases.org/rare-diseases/acrodysostosis/

Acromegaly

https://en.wikipedia.org/wiki/Acromegaly

https://www.mayoclinic.org/diseases-conditions/acromegaly/symptoms-causes/syc-20351222

https://www.niddk.nih.gov/health-information/endocrine-diseases/acromegaly

https://rarediseases.org/rare-diseases/acromegaly/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=963

https://dermnetnz.org/topics/acromegaly/

Acromesomelic Dysplasia

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93436

https://radiopaedia.org/articles/short-limb-skeletal-dysplasia

https://anr.fr/Colloques/BioSante2011/posters/68_RECUEIL-POSTERS-BIOSANTE-2011.pdf

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199299

Acute Eosinophilic Pneumonia

https://www.atsjournals.org/doi/full/10.1164/rccm.201710-1967CI

https://rarediseases.org/rare-diseases/acute-eosinophilic-pneumonia/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591538/

https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/hospital-medicine/acute-eosinophilic-pneumonia/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=724

https://www.merckmanuals.com/professional/pulmonary-disorders/interstitial-lung-diseases/acute-eosinophilic-pneumonia

https://erj.ersjournals.com/content/41/2/402

https://emedicine.medscape.com/article/2078412-overview

Acute Intermittent Porphyria

https://en.wikipedia.org/wiki/Acute_intermittent_porphyria

https://rarediseases.org/rare-diseases/acute-intermittent-porphyria

https://emedicine.medscape.com/article/957604-overview

https://www.mayoclinic.org/diseases-conditions/porphyria/symptoms-causes/syc-20356066

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79276

Acute Myeloid Leukemia

https://en.wikipedia.org/wiki/Acute_myeloid_leukemia

https://www.cancer.org/cancer/acute-myeloid-leukemia/about/what-is-aml.html

https://www.webmd.com/cancer/lymphoma/acute-myeloid-leukemia-symptoms-treatments

https://emedicine.medscape.com/article/197802-overview

https://www.mayoclinic.org/diseases-conditions/acute-myelogenous-leukemia/symptoms-causes/syc-20369109

https://www.medicalnewstoday.com/articles/215538.php#symptoms

https://www.nhs.uk/conditions/acute-myeloid-leukaemia/

https://www.cancerresearchuk.org/about-cancer/acute-myeloid-leukaemia-aml

https://www.lls.org/leukemia/acute-myeloid-leukemia

Acute Promyelocytic Leukemia

https://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia

https://rarediseases.info.nih.gov/diseases/538/acute-promyelocytic-leukemia

https://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia

https://emedicine.medscape.com/article/1495306-overview

https://emedicine.medscape.com/article/1495306-overview

https://www.cancer.org/cancer/acute-myeloid-leukemia/treating/m3-leukemia.html

https://www.leukaemia.org.au/disease-information/leukaemias/acute-promyelocytic-leukaemia/

https://www.onkopedia-guidelines.info/en/onkopedia/guidelines/acute-promyelocytic-leukemia-apl/@@guideline/html/index.html

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=8559&Disease_Disease_Search_diseaseGroup=Acute-myeloblastic-leukemia-type-3&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Acute-promyelocytic-leukemia--Acute-myeloblastic-leukemia-type-3-&title=Acute-promyelocytic-leukemia--Acute-myeloblastic-leukemia-type-3-&search=Disease_Search_Simple

https://ascopubs.org/doi/10.1200/JOP.18.00328

Acute Respiratory Distress Syndrome

https://en.wikipedia.org/wiki/Acute_respiratory_distress_syndrome

https://www.lung.org/lung-health-and-diseases/lung-disease-lookup/ards/

https://emedicine.medscape.com/article/165139-overview

https://www.healthline.com/health/acute-respiratory-distress-syndrome

https://www.nhlbi.nih.gov/health-topics/acute-respiratory-distress-syndrome

https://www.webmd.com/lung/ards-acute-respiratory-distress-syndrome#1

https://www.nhs.uk/conditions/acute-respiratory-distress-syndrome/

https://www.webmd.com/lung/ards-acute-respiratory-distress-syndrome#1

https://www.nhs.uk/conditions/acute-respiratory-distress-syndrome/

https://www.wfsahq.org/components/com_virtual_library/media/2ee4f27f10c91b341754032927d178cc-atow-411-00.pdf

Adams Oliver Syndrome

https://ghr.nlm.nih.gov/condition/adams-oliver-syndrome

https://rarediseases.org/rare-diseases/adams-oliver-syndrome/

https://en.wikipedia.org/wiki/AdamsOliver_syndrome

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=974

https://dermnetnz.org/topics/adams-oliver-syndrome/

https://jamanetwork.com/journals/jamaophthalmology/fullarticle/1309601

https://omim.org/entry/614219

ADCY5-Related Dyskinesia

https://ghr.nlm.nih.gov/condition/adcy5-related-dyskinesia

https://rarediseases.info.nih.gov/diseases/12722/adcy5-related-dyskinesia

http://www.adcy5.org/adcy5-related-dyskinesia-description.html

https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.12816

www.adcy5.org/adcy5-related-dyskinesia-description.html


Addison’s Disease

Adenoid Cystic Carcinoma

https://oralcancerfoundation.org/facts/rare/adenoid-cystic-carcinoma/

https://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma

https://rarediseases.org/rare-diseases/adenoid-cystic-carcinoma/

https://rarediseases.info.nih.gov/diseases/5743/adenoid-cystic-carcinoma

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741919/

https://www.cancer.net/cancer-types/adenoid-cystic-carcinoma/symptoms-and-signs

https://www.accoi.org/faq/what-acc/

Adenylosuccinate Lyase Deficiency

https://ghr.nlm.nih.gov/condition/adenylosuccinate-lyase-deficiency

  https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency

https://rarediseases.org/rare-diseases/adenylosuccinate-lyase-deficiency/

 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=46

https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0383-7

https://www.medlink.com/index.php/article/adenylosuccinate_lyase_deficiency

https://www.genome.jp/dbget-bin/www_bget?ds:H00197

 https://clinicaltrials.gov/ct2/show/NCT03776656

Adie Syndrome

https://en.wikipedia.org/wiki/Adie_syndrome

https://rarediseases.info.nih.gov/diseases/5749/adie-syndrome

https://www.ninds.nih.gov/Disorders/All-Disorders/Holmes-Adie-Syndrome-Information-Page

 https://rarediseases.org/rare-diseases/adie-syndrome/

https://eyewiki.aao.org/Adie%27s_Pupil

https://jnnp.bmj.com/content/65/4/583

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=454718


Adult Neuronal Ceroid Lipofuscinosis

https://rarediseases.org/rare-diseases/kufs-disease/

https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79262

https://neuro.psychiatryonline.org/doi/pdfplus/10.1176/appi.neuropsych.11080182

https://en.wikipedia.org/wiki/Neuronal_ceroid_lipofuscinosis


Adult Onset Stills Disease

https://www.mayoclinic.org/diseases-conditions/adult-stills-disease/symptoms-causes/syc-20351907

https://rarediseases.org/rare-diseases/adult-onset-stills-disease/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1798146/

 https://www.periodicfevers.com/thescience/AOSD/

https://www.hindawi.com/journals/crirh/2016/6502373/

Adult Polyglucosan Body Disease

https://rarediseases.org/rare-diseases/adult-polyglucosan-body-disease/

https://ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease

https://www.ncbi.nlm.nih.gov/books/NBK5300/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=206583

https://en.wikipedia.org/wiki/Adult_polyglucosan_body_disease

https://www.mayoclinicproceedings.org/article/S0025-6196(11)63036-X/fulltext

 https://en.wikipedia.org/wiki/Adult_polyglucosan_body_disease

https://blogs.plos.org/dnascience/2015/01/01/adult-polyglucosan-body-disease-apbd-diagnostic-challenge/

https://www.archivesofpathology.org/doi/pdf/10.1043/0003-9985%282001%29125%3C0519%3AAPBD%3E2.0.CO%3B2


AEC Syndrome

https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome

https://rarediseases.org/rare-diseases/aec-syndrome/

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1365&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1071&Disease(s)/group%20of%20diseases=AEC-syndrome&title=AEC-syndrome&search=Disease_Search_Simple

https://en.wikipedia.org/wiki/HayWells_syndrome

 https://www.nfed.org/learn/types/ankyloblepharon-ectodermal-dysplasia-cleft-lip-palate/

Agammaglobulinemia

https://rarediseases.org/rare-diseases/agammaglobulinemia/

https://emedicine.medscape.com/article/884942-overview

https://en.wikipedia.org/wiki/X-linked_agammaglobulinemia

https://www.visualdx.com/visualdx/diagnosis/congenital+agammaglobulinemia?diagnosisId=51075&moduleId=23

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=47

https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/agammaglobulinemia-x-linked-autosomal-recessiv
Agenesis of Corpus Callosum

https://en.wikipedia.org/wiki/Agenesis_of_the_corpus_callosum

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774850/

https://radiopaedia.org/articles/dysgenesis-of-the-corpus-callosum

 https://www.medlink.com/index.php/article/agenesis_of_the_corpus_callosum

https://www.medicalnewstoday.com/articles/318065.php#What-is-the-corpus-callosum


Agranulocytosis, Acquired

https://rarediseases.org/rare-diseases/agranulocytosis-acquired/

https://rarediseases.info.nih.gov/diseases/5717/acquired-agranulocytosis

ahu

Ahumada-Del Castillo Syndrome

https://rarediseases.org/rare-diseases/ahumada-del-castillo-syndrome/

Aicardi Syndrome

https://ghr.nlm.nih.gov/condition/aicardi-syndrome

https://en.wikipedia.org/wiki/Aicardi_syndrome

https://rarediseases.org/rare-diseases/aicardi-syndrome/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=50

https://www.healthline.com/health/aicardi-syndrome

https://aicardisyndromefoundation.org/aicardi-syndrome/

 https://emedicine.medscape.com/article/941426-overview

https://www.epilepsy.org.uk/info/syndromes/aicardi-syndrome

 Z<

AIDS Dysmorphic Syndrome

https://rarediseases.org/rare-diseases/aids-dysmorphic-syndrome/

https://radiopaedia.org/articles/aids-embryopathy?lang=us

https://books.google.pt/books?id=wdNpBchvdvQC&pg=PA86&lpg=PA86&dq=AIDS+dysmorphic+syndrome&source=bl&ots=5rTlnAdkeq&sig=ACfU3U2cg47wVKAQQujjblnn_sNZpfiFpw&hl=pt-PT&sa=X&ved=2ahUKEwjHuPnyvajmAhWKoBQKHZVZCdAQ6AEwCnoECAsQAQ#v=onepage&q=AIDS%20dysmorphic%20syndrome&f=false


ALAD Porphyria

https://rarediseases.org/rare-diseases/alad-porphyria/

https://www.porphyriafoundation.org/for-patients/types-of-porphyria/adp/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC178534

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100924

https://emedicine.medscape.com/article/198248-clinical

Alagille Syndrome

https://ghr.nlm.nih.gov/condition/alagille-syndrome

https://en.wikipedia.org/wiki/Alagille_syndrome

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=52

https://www.chop.edu/conditions-diseases/alagille-syndrome

https://www.hopkinsmedicine.org/health/conditions-and-diseases/alagille-syndrome

 https://www.cincinnatichildrens.org/health/a/alagille-syndrome

Alexander Disease

https://ghr.nlm.nih.gov/condition/alexander-disease

https://rarediseases.info.nih.gov/diseases/5774/alexander-disease

https://rarediseases.org/rare-diseases/alexander-disease/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=58&lng=EN

 https://www.huntershope.org/family-care/leukodystrophies/alexander-disease/

https://www.healthline.com/health/Alexander-disease

https://www.chop.edu/conditions-diseases/alexander-disease


Alkaptonuria

https://rarediseases.org/rare-diseases/alkaptonuria/

https://en.wikipedia.org/wiki/Alkaptonuria

https://www.healthline.com/health/alkaptonuria

https://ghr.nlm.nih.gov/condition/alkaptonuria

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978898/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=56

https://www.nhs.uk/conditions/alkaptonuria/

https://emedicine.medscape.com/article/941530-overview

Alopecia Areata

https://ghr.nlm.nih.gov/condition/alopecia-areata

https://www.medicalnewstoday.com/articles/70956.php

https://en.wikipedia.org/wiki/Alopecia_areata

https://rarediseases.org/rare-diseases/alopecia-areata/

https://www.healthline.com/health/alopecia-areata

https://www.medscape.com/answers/1069931-62696/what-is-the-prevalence-of-alopecia-areata-in-down-syndrome

https://www.health.harvard.edu/a_to_z/alopecia-areata-a-to-z

https://jamanetwork.com/journals/jamadermatology/article-abstract/536351[MH1] 

Alpers Disease

https://rarediseases.org/rare-diseases/alpers-disease/

https://www.ninds.nih.gov/Disorders/All-Disorders/Alpers-Disease-Information-Page

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=726

https://jamanetwork.com/journals/jamaneurology/fullarticle/794999

https://www.dovepress.com/alpersndashhuttenlocher-syndrome-the-role-of-a-multidisciplinary-healt-peer-reviewed-fulltext-article-JMDH

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1469-8749.2006.tb01275.x


Alpha Thalassemia

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=PT&data_id=50&Disease_Disease_Search_diseaseGroup=thalassemia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Alpha-thalassemia&title=Alpha-thalassemia&search=Disease_Search_Simple

https://ghr.nlm.nih.gov/condition/alpha-thalassemia

https://en.wikipedia.org/wiki/Alpha-thalassemia

https://kidshealth.org/en/parents/thalassemias.html

https://www.hopkinsmedicine.org/health/conditions-and-diseases/alpha-thalassemia

https://emedicine.medscape.com/article/955496-overview

https://www.stjude.org/disease/alpha-thalassemia.html

https://rarediseases.org/rare-diseases/alpha-thalassemia

https://www.stanfordchildrens.org/en/topic/default?id=alpha-thalassemia-in-children-90-P02329


Alpha Thalassemia X-linked Intellectual Disability Syndrome

https://ghr.nlm.nih.gov/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome

https://www.ncbi.nlm.nih.gov/books/NBK1449/

https://rarediseases.org/rare-diseases/alpha-thalassemia-x-linked-intellectual-disability-syndrome/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=847

https://en.wikipedia.org/wiki/Alpha-thalassemia_mental_retardation_syndrome

https://www.webmd.com/children/atr-x-syndrome-overview#1
 https://complexchild.org/articles/2017-articles/july/atrx/

Alpha-1 Antitrypsin Deficiency

https://en.wikipedia.org/wiki/Alpha-1_antitrypsin_deficiency

https://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency

https://www.webmd.com/lung/copd/alpha-1-antitrypsin-deficiency-rare#1

https://rarediseases.org/rare-diseases/alpha-1-antitrypsin-deficiency/

https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0856-9

https://www.dovepress.com/anxiety-and-depression-in-patients-with-alpha-1-antitrypsin-deficiency-peer-reviewed-fulltext-article-TCRM

Alpha-Mannosidosis

https://ghr.nlm.nih.gov/condition/alpha-mannosidosis

https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis

https://en.wikipedia.org/wiki/Alpha-mannosidosis

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=61

https://rarediseases.org/rare-diseases/alpha-mannosidosis/

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-3-21

https://www.ema.europa.eu/en/documents/press-release/new-enzyme-replacement-therapy-treat-rare-genetic-disorder-alpha-mannosidosis-children-adults_en.pdf

https://www.centogene.com/clinical-studies/european-alpha-mannosidosis-patient-epidemiological-program-eumap.html

Alport Syndrome

https://ghr.nlm.nih.gov/condition/alport-syndrome

https://en.wikipedia.org/wiki/Alport_syndrome

https://www.kidney.org/atoz/content/alport

https://emedicine.medscape.com/article/238260-overview

https://www.alportsyndrome.org/alport-syndrome/alport-syndrome-genetics/

https://rarediseases.org/rare-diseases/alport-syndrome/

 https://www.dynamed.com/condition/alport-syndrome

Alström Syndrome

https://ghr.nlm.nih.gov/condition/alstrom-syndrome

https://rarediseases.info.nih.gov/diseases/5787/alstrom-syndrome

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64

https://en.wikipedia.org/wiki/Alström_syndrome

https://rarediseases.org/rare-diseases/alstrom-syndrome/

https://www.revespcardiol.org/en-sindrome-alstrom-una-rara-causa-articulo-S1885585717300853?redirect=true

http://www.bjorl.org/pt-familial-alstrom-syndrome-rare-cause-articulo-S180886941450033X

Alternating Hemiplegia of Childhood

https://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2131

https://rarediseases.org/rare-diseases/alternating-hemiplegia-of-childhood/

https://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood

http://ahc~kids.org/education/whatisahc/

https://n.neurology.org/content/74/14/e57

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

https://ghr.nlm.nih.gov/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4009999/
 https://rarediseases.org/rare-diseases/alveolar-capillary-dysplasia

https://en.wikipedia.org/wiki/Alveolar_capillary_dysplasia

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=210122
 https://www.atsjournals.org/doi/full/10.1164/rccm.201010-1697CI

Alveolar Soft Part Sarcoma

https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/alveolar-soft-part-sarcomas

https://rarediseases.org/rare-diseases/alveolar-soft-part-sarcoma/

https://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma

http://sarcomahelp.org/asps.html

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860509/

https://www.pathologyoutlines.com/topic/softtissuealveolarsoft.html

https://www.medscape.com/answers/991351-162451/what-is-the-pathophysiology-of-the-alveolar-soft-part-sarcomas-type-of-nonrhabdomyosarcoma-soft-tissue-sarcomas-nrstss

http://www.danafarberbostonchildrens.org/conditions/solid-tumors/alveolar-soft-part-sarcoma.aspx

Ameloblastic Carcinoma

https://rarediseases.org/rare-diseases/ameloblastic-carcinoma/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3177477/

https://en.wikipedia.org/wiki/Ameloblastic_carcinoma

https://www.pathologyoutlines.com/topic/mandiblemaxillaameloblasticcarcinoma.html

https://www.spandidos-publications.com/10.3892
Aagenaes

https://en.wikipedia.org/wiki/Aagenaes_syndrome

https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome

https://www.news-medical.net/health/What-is-Aagenaes-Syndrome-(Portuguese).aspx



Aaarskog Syndrome

https://rarediseases.org/rare-diseases/aarskog-syndrome/

https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome

https://en.wikipedia.org/wiki/Aarskog–Scott_syndrome

https://www.news-medical.net/health/Aarskog-Syndrome-Causes-and-Diagnosis-(Portuguese).aspx

https://www.winchesterhospital.org/health-library/article?id=22572

http://pennstatehershey.adam.com/content.aspx?productid=117&pid=1&gid=001654



Abetalipoproteinemia

https://pt.wikipedia.org/wiki/Síndrome_de_Bassen-Kornzweig

https://en.wikipedia.org/wiki/Abetalipoproteinemia

https://bestpractice.bmj.com/topics/pt-br/471

https://rarediseases.info.nih.gov/diseases/5/abetalipoproteinemia

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-3-19

https://www.aao.org/disease-review/abetalipoproteinemia



Ablepharon-Macrostomia Syndrome

https://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/

https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome

https://rarediseases.info.nih.gov/diseases/3/ablepharon-macrostomia-syndrome

https://rarediseases.info.nih.gov/diseases/3/ablepharon-macrostomia-syndrome

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3504267/

https://www.genome.jp/dbget-bin/www_bget?ds:H01932

https://www.aao.org/disease-review/ablepharon-macrostomia-syndrome



Acanthocheilonemiasis

https://en.wikipedia.org/wiki/Acanthocheilonemiasis

https://rarediseases.org/rare-diseases/acanthocheilonemiasis/

https://www.medigoo.com/articles/acanthocheilonemiasis/

https://www.semanticscholar.org/topic/Acanthocheilonemiasis/3060461



Acanthosis Nigricans

https://en.wikipedia.org/wiki/Acanthosis_nigricans

https://www.mayoclinic.org/diseases-conditions/acanthosis-nigricans/symptoms-causes/syc-20368983

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962002000500003

https://www.healthline.com/health/acanthosis-nigricans

https://www.webmd.com/skin-problems-and-treatments/acanthosis-nigricans-overview

 https://dermnetnz.org/topics/acanthosis-nigricans/

https://www.medicalnewstoday.com/articles/324062.php

https://rarediseases.org/rare-diseases/acanthosis-nigricans/



Aceruloplasminemia

https://ghr.nlm.nih.gov/condition/aceruloplasminemia

https://rarediseases.org/rare-diseases/aceruloplasminemia/

https://www.infoescola.com/doencas/aceruloplasminemia/

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842011000500017

https://www.frontiersin.org/articles/10.3389/fnins.2019.00325/full

https://www.news-medical.net/health/What-is-Aceruloplasminemia-(Portuguese).aspx



Achalasia

https://en.wikipedia.org/wiki/Esophageal_achalasia

https://reference.medscape.com/article/169974-overview

https://rarediseases.org/rare-diseases/achalasia

https://www.medicinenet.com/achalasia/article.htm#what_is_the_definition_of_achalasia

https://www.uptodate.com/contents/achalasia-beyond-the-basics



Achard Thiers Syndrome

https://rarediseases.org/rare-diseases/achard-thiers-syndrome/

https://rarediseases.info.nih.gov/diseases/5709/achard-thiers-syndrome

https://www.dovemed.com/diseases-conditions/achard-thiers-syndrome/

 https://patientworthy.com/achard-thiers-syndrome/

https://www.symptoma.com/en/info/achard-thiers-syndrome#treatment



Achondrogenesis

https://ghr.nlm.nih.gov/condition/achondrogenesis

https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis

https://en.wikipedia.org/wiki/Achondrogenesis

https://www.healthline.com/health/achondrogenesis

https://emedicine.medscape.com/article/941176-overview



Achondroplasia

https://en.wikipedia.org/wiki/Achondroplasia

https://ghr.nlm.nih.gov/condition/achondroplasia

https://rarediseases.info.nih.gov/diseases/8173/achondroplasia

https://www.healthline.com/health/achondroplasia

https://rarediseases.org/rare-diseases/achondroplasia/

https://emedicine.medscape.com/article/1258401-overview

https://www.stanfordchildrens.org/en/topic/default?id=achondroplasia-90-P01938



Acid Sphingomyelinase Deficiency(deficiência em esfingomielinase acida)

https://rarediseases.org/rare-diseases/acid-sphingomyelinase-deficiency/

https://www.ncbi.nlm.nih.gov/books/NBK1370

https://www.ncbi.nlm.nih.gov/books/NBK1370/

https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0572-x

https://checkrare.com/acid-sphingomyelinase-deficiency/

https://www.nature.com/articles/gim20177



Acidemia Isovaleric

https://ghr.nlm.nih.gov/condition/isovaleric-acidemia

https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia

https://rarediseases.org/rare-diseases/acidemia-isovaleric/

https://en.wikipedia.org/wiki/Isovaleric_acidemia

https://www.babysfirsttest.org/newborn-screening/conditions/isovaleric-acidemia

https://www.e-imd.org/diseases/organic-acidurias-oads/isovaleric-acidemia-iva

https://www.babysfirsttest.org/newborn-screening/conditions/isovaleric-acidemia



Acidemia, Methylmalonic

https://en.wikipedia.org/wiki/Methylmalonic_acidemia

https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia

https://rarediseases.info.nih.gov/diseases/7033/methylmalonic-acidemia

https://emedicine.medscape.com/article/1161799-overview

 https://rarediseases.org/rare-diseases/acidemia-methylmalonic/

https://ww.newbornscreening.info/Parents/organicaciddisorders/MMA.html

https://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=27
 https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0130-8



Acoustic Neuroma

https://en.wikipedia.org/wiki/Vestibular_schwannoma

https://en.wikipedia.org/wiki/Vestibular_schwannoma

https://www.webmd.com/brain/acoustic-neuroma-causes-symptoms-treatments#1

https://www.hopkinsmedicine.org/health/conditions-and-diseases/brain-tumor/vestibular-schwannoma

https://www.nidcd.nih.gov/health/vestibular-schwannoma-acoustic-neuroma-and-neurofibromatosis

https://emedicine.medscape.com/article/882876-overview

 https://www.nhs.uk/conditions/acoustic-neuroma/

https://rarediseases.org/rare-diseases/acoustic-neuroma/



Acquired Aplastic Anemia

https://rarediseases.org/rare-diseases/acquired-aplastic-anemia/

https://en.wikipedia.org/wiki/Aplastic_anemia

https://www.frontiersin.org/articles/10.3389/fonc.2018.00587/full

 https://www.medscape.com/answers/198759-44175/what-are-acquired-causes-of-aplastic-anemia

https://ashpublications.org/blood/article/129/11/1428/35931/How-I-treat-acquired-aplastic-anemia

https://accessmedicine.mhmedical.com/content.aspx?bookid=1581&sectionid=94303673

https://www.onkopedia-guidelines.info/en/onkopedia/guidelines/aplastic-anemia-diagnostics-and-therapy-of-acquired-aplastic-anemia/@@guideline/html/index.html



Acquired Hemophilia

https://rarediseases.org/rare-diseases/acquired-hemophilia/

https://emedicine.medscape.com/article/211186-overview

http://www1.wfh.org/publications/files/pdf-1186.pdf

https://www.rarebleedingdisorders.com/bleeding-disorders/acquired-hemophilia.html

https://hemophilianewstoday.com/types-of-hemophilia/acquired-hemophilia/

https://www.cureus.com/articles/22035-acquired-hemophilia-a-a-rare-but-potentially-fatal-bleeding-disorder

Acquired Lipodystrophy

https://rarediseases.org/rare-diseases/acquired-lipodystrophy/

https://www.webmd.com/diabetes/acquired-lipodystrophy#1

https://en.wikipedia.org/wiki/Acquired_generalized_lipodystrophy

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79086

Acquired Neuromyotonia

https://rarediseases.org/rare-diseases/acquired-neuromyotonia/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=84142

https://jamanetwork.com/journals/jamaneurology/fullarticle/1754700

https://n.neurology.org/content/65/8/1330

https://www.thelancet.com/journals/unidentified_journal/article/PII0140-6736(91)90073-X/fulltext

https://brainfoundation.org.au/images/stories/applicant_essays/2012_essays/Acquired_Neuromyotonia_-_Jankelowitz_Stacey.pdf

https://casesjournal.biomedcentral.com/articles/10.4076/1757-1626-2-7952



Acrocallosal Syndrome, Schinzel Type

https://rarediseases.org/rare-diseases/acrocallosal-syndrome-schinzel-type/

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=405&MISSING%20CONTENT=Acrocallosal-syndrome--Schinzel-type&search=Disease_Search_Simple&title=Acrocallosal-syndrome--Schinzel-type

https://ghr.nlm.nih.gov/condition/acrocallosal-syndrome

https://rarediseases.info.nih.gov/diseases/5721/acrocallosal-syndrome-schinzel-type

https://diseasesdic.com/acrocallosal-syndrome-causes-symptoms-and-treatment/



Acrodermatitis Enteropathica

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902399/

https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica

https://rarediseases.org/rare-diseases/acrodermatitis-enteropathica/

https://emedicine.medscape.com/article/1102575-overview

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=37

https://dermnetnz.org/topics/acrodermatitis-enteropathica/

http://www.scielo.br/scielo.php?pid=S0103-05822018005001111&script=sci_arttext&tlng=en

https://www.sciencedirect.com/topics/medicine-and-dentistry/acrodermatitis-enteropathica

https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/pediatrics/acrodermatitis-enteropathica/



Acrodysostosis

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=950

https://en.wikipedia.org/wiki/Acrodysostosis

https://rarediseases.org/rare-diseases/acrodysostosis/

Acromegaly

https://en.wikipedia.org/wiki/Acromegaly

https://www.mayoclinic.org/diseases-conditions/acromegaly/symptoms-causes/syc-20351222

https://www.niddk.nih.gov/health-information/endocrine-diseases/acromegaly

https://rarediseases.org/rare-diseases/acromegaly/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=963

https://dermnetnz.org/topics/acromegaly/


Acromesomelic Dysplasia

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93436

https://radiopaedia.org/articles/short-limb-skeletal-dysplasia

https://anr.fr/Colloques/BioSante2011/posters/68_RECUEIL-POSTERS-BIOSANTE-2011.pdf


ACTH Deficiency

https://rarediseases.org/rare-diseases/acth-deficiency/

https://en.wikipedia.org/wiki/Adrenocorticotropic_hormone_deficiency

https://

.biomedcentral.com/articles/10.1186/s12902-015-0082-6

https://www.sciencedirect.com/topics/medicine-and-dentistry/corticotropin-deficiency

https://www.medscape.com/answers/923789-124114/how-is-adrenocorticotropic-hormone-acth-deficiency-assessed-in-patients-with-panhypopituitarism

https://www.dovepress.com/a-case-of-isolated-adrenocorticotropic-hormone-deficiency-a-rare-but-p-peer-reviewed-fulltext-article-IMCRJ

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199299


Acute acalculous Cholecystitis

https://emedicine.medscape.com/article/171886-overview

https://www.msdmanuals.com/professional/hepatic-and-biliary-disorders/gallbladder-and-bile-duct-disorders/acute-cholecystitis

https://www.nhs.uk/conditions/acute-cholecystitis/

https://en.wikipedia.org/wiki/Cholecystitis

https://www.mayoclinic.org/diseases-conditions/cholecystitis/symptoms-causes/syc-20364867

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1124163


Acute Disseminated Encephalomyelitis

https://emedicine.medscape.com/article/1147044-overview

https://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis

https://my.clevelandclinic.org/health/diseases/14266-acute-disseminated-encephalomyelitis-adem

https://rarediseases.org/rare-diseases/acute-disseminated-encephalomyelitis/

https://n.neurology.org/content/87/9_Supplement_2/S38


Acrodysostosis

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=950

https://en.wikipedia.org/wiki/Acrodysostosis

https://rarediseases.org/rare-diseases/acrodysostosis/

Acromegaly

https://en.wikipedia.org/wiki/Acromegaly

https://www.mayoclinic.org/diseases-conditions/acromegaly/symptoms-causes/syc-20351222

https://www.niddk.nih.gov/health-information/endocrine-diseases/acromegaly

https://rarediseases.org/rare-diseases/acromegaly/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=963

https://dermnetnz.org/topics/acromegaly/

Acromesomelic Dysplasia

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93436

https://radiopaedia.org/articles/short-limb-skeletal-dysplasia

https://anr.fr/Colloques/BioSante2011/posters/68_RECUEIL-POSTERS-BIOSANTE-2011.pdf

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199299

Acute Eosinophilic Pneumonia

https://www.atsjournals.org/doi/full/10.1164/rccm.201710-1967CI

https://rarediseases.org/rare-diseases/acute-eosinophilic-pneumonia/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591538/

https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/hospital-medicine/acute-eosinophilic-pneumonia/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=724 

https://www.merckmanuals.com/professional/pulmonary-disorders/interstitial-lung-diseases/acute-eosinophilic-pneumonia

https://erj.ersjournals.com/content/41/2/402

https://emedicine.medscape.com/article/2078412-overview

Acute Intermittent Porphyria

https://en.wikipedia.org/wiki/Acute_intermittent_porphyria

https://rarediseases.org/rare-diseases/acute-intermittent-porphyria

https://emedicine.medscape.com/article/957604-overview

https://www.mayoclinic.org/diseases-conditions/porphyria/symptoms-causes/syc-20356066

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79276

Acute Myeloid Leukemia

https://en.wikipedia.org/wiki/Acute_myeloid_leukemia

https://www.cancer.org/cancer/acute-myeloid-leukemia/about/what-is-aml.html

https://www.webmd.com/cancer/lymphoma/acute-myeloid-leukemia-symptoms-treatments

https://emedicine.medscape.com/article/197802-overview

https://www.mayoclinic.org/diseases-conditions/acute-myelogenous-leukemia/symptoms-causes/syc-20369109

https://www.medicalnewstoday.com/articles/215538.php#symptoms

https://www.nhs.uk/conditions/acute-myeloid-leukaemia/

https://www.cancerresearchuk.org/about-cancer/acute-myeloid-leukaemia-aml

https://www.lls.org/leukemia/acute-myeloid-leukemia

Acute Promyelocytic Leukemia

https://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia

https://rarediseases.info.nih.gov/diseases/538/acute-promyelocytic-leukemia

https://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia

https://emedicine.medscape.com/article/1495306-overview

https://emedicine.medscape.com/article/1495306-overview

https://www.cancer.org/cancer/acute-myeloid-leukemia/treating/m3-leukemia.html

https://www.leukaemia.org.au/disease-information/leukaemias/acute-promyelocytic-leukaemia/

https://www.onkopedia-guidelines.info/en/onkopedia/guidelines/acute-promyelocytic-leukemia-apl/@@guideline/html/index.html

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=8559&Disease_Disease_Search_diseaseGroup=Acute-myeloblastic-leukemia-type-3&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Acute-promyelocytic-leukemia--Acute-myeloblastic-leukemia-type-3-&title=Acute-promyelocytic-leukemia--Acute-myeloblastic-leukemia-type-3-&search=Disease_Search_Simple

https://ascopubs.org/doi/10.1200/JOP.18.00328

Acute Respiratory Distress Syndrome

https://en.wikipedia.org/wiki/Acute_respiratory_distress_syndrome

https://www.lung.org/lung-health-and-diseases/lung-disease-lookup/ards/

https://emedicine.medscape.com/article/165139-overview

https://www.healthline.com/health/acute-respiratory-distress-syndrome

https://www.nhlbi.nih.gov/health-topics/acute-respiratory-distress-syndrome

https://www.webmd.com/lung/ards-acute-respiratory-distress-syndrome#1

https://www.nhs.uk/conditions/acute-respiratory-distress-syndrome/

https://www.webmd.com/lung/ards-acute-respiratory-distress-syndrome#1

https://www.nhs.uk/conditions/acute-respiratory-distress-syndrome/

https://www.wfsahq.org/components/com_virtual_library/media/2ee4f27f10c91b341754032927d178cc-atow-411-00.pdf

Adams Oliver Syndrome

https://ghr.nlm.nih.gov/condition/adams-oliver-syndrome

https://rarediseases.org/rare-diseases/adams-oliver-syndrome/

https://en.wikipedia.org/wiki/AdamsOliver_syndrome

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=974

https://dermnetnz.org/topics/adams-oliver-syndrome/

https://jamanetwork.com/journals/jamaophthalmology/fullarticle/1309601

https://omim.org/entry/614219

ADCY5-Related Dyskinesia

https://ghr.nlm.nih.gov/condition/adcy5-related-dyskinesia

https://rarediseases.info.nih.gov/diseases/12722/adcy5-related-dyskinesia

http://www.adcy5.org/adcy5-related-dyskinesia-description.html

https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.12816

www.adcy5.org/adcy5-related-dyskinesia-description.html


Addison’s Disease

Adenoid Cystic Carcinoma

https://oralcancerfoundation.org/facts/rare/adenoid-cystic-carcinoma/

https://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma

https://rarediseases.org/rare-diseases/adenoid-cystic-carcinoma/

https://rarediseases.info.nih.gov/diseases/5743/adenoid-cystic-carcinoma

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741919/

https://www.cancer.net/cancer-types/adenoid-cystic-carcinoma/symptoms-and-signs

https://www.accoi.org/faq/what-acc/

Adenylosuccinate Lyase Deficiency

https://ghr.nlm.nih.gov/condition/adenylosuccinate-lyase-deficiency

  https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency

https://rarediseases.org/rare-diseases/adenylosuccinate-lyase-deficiency/

 https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=46 

https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0383-7 

https://www.medlink.com/index.php/article/adenylosuccinate_lyase_deficiency 

https://www.genome.jp/dbget-bin/www_bget?ds:H00197 

 https://clinicaltrials.gov/ct2/show/NCT03776656

Adie Syndrome

https://en.wikipedia.org/wiki/Adie_syndrome

https://rarediseases.info.nih.gov/diseases/5749/adie-syndrome

https://www.ninds.nih.gov/Disorders/All-Disorders/Holmes-Adie-Syndrome-Information-Page

 https://rarediseases.org/rare-diseases/adie-syndrome/

https://eyewiki.aao.org/Adie%27s_Pupil

https://jnnp.bmj.com/content/65/4/583

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=454718


Adult Neuronal Ceroid Lipofuscinosis

https://rarediseases.org/rare-diseases/kufs-disease/

https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79262

https://neuro.psychiatryonline.org/doi/pdfplus/10.1176/appi.neuropsych.11080182

https://en.wikipedia.org/wiki/Neuronal_ceroid_lipofuscinosis


Adult Onset Stills Disease

https://www.mayoclinic.org/diseases-conditions/adult-stills-disease/symptoms-causes/syc-20351907

https://rarediseases.org/rare-diseases/adult-onset-stills-disease/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1798146/

 https://www.periodicfevers.com/thescience/AOSD/

https://www.hindawi.com/journals/crirh/2016/6502373/

Adult Polyglucosan Body Disease

https://rarediseases.org/rare-diseases/adult-polyglucosan-body-disease/

https://ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease

https://www.ncbi.nlm.nih.gov/books/NBK5300/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=206583

https://en.wikipedia.org/wiki/Adult_polyglucosan_body_disease

https://www.mayoclinicproceedings.org/article/S0025-6196(11)63036-X/fulltext

 https://en.wikipedia.org/wiki/Adult_polyglucosan_body_disease

https://blogs.plos.org/dnascience/2015/01/01/adult-polyglucosan-body-disease-apbd-diagnostic-challenge/

https://www.archivesofpathology.org/doi/pdf/10.1043/0003-9985%282001%29125%3C0519%3AAPBD%3E2.0.CO%3B2


AEC Syndrome

https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome

https://rarediseases.org/rare-diseases/aec-syndrome/

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1365&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1071&Disease(s)/group%20of%20diseases=AEC-syndrome&title=AEC-syndrome&search=Disease_Search_Simple

https://en.wikipedia.org/wiki/HayWells_syndrome

 https://www.nfed.org/learn/types/ankyloblepharon-ectodermal-dysplasia-cleft-lip-palate/

Agammaglobulinemia

https://rarediseases.org/rare-diseases/agammaglobulinemia/

https://emedicine.medscape.com/article/884942-overview

https://en.wikipedia.org/wiki/X-linked_agammaglobulinemia

https://www.visualdx.com/visualdx/diagnosis/congenital+agammaglobulinemia?diagnosisId=51075&moduleId=23

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=47

https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/agammaglobulinemia-x-linked-autosomal-recessiv
Agenesis of Corpus Callosum

https://en.wikipedia.org/wiki/Agenesis_of_the_corpus_callosum

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774850/

https://radiopaedia.org/articles/dysgenesis-of-the-corpus-callosum

 https://www.medlink.com/index.php/article/agenesis_of_the_corpus_callosum

https://www.medicalnewstoday.com/articles/318065.php#What-is-the-corpus-callosum


Agranulocytosis, Acquired

https://rarediseases.org/rare-diseases/agranulocytosis-acquired/

https://rarediseases.info.nih.gov/diseases/5717/acquired-agranulocytosis

ahu

Ahumada-Del Castillo Syndrome

https://rarediseases.org/rare-diseases/ahumada-del-castillo-syndrome/

Aicardi Syndrome

https://ghr.nlm.nih.gov/condition/aicardi-syndrome

https://en.wikipedia.org/wiki/Aicardi_syndrome

https://rarediseases.org/rare-diseases/aicardi-syndrome/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=50

https://www.healthline.com/health/aicardi-syndrome

https://aicardisyndromefoundation.org/aicardi-syndrome/

 https://emedicine.medscape.com/article/941426-overview

https://www.epilepsy.org.uk/info/syndromes/aicardi-syndrome

 Z< 

AIDS Dysmorphic Syndrome

https://rarediseases.org/rare-diseases/aids-dysmorphic-syndrome/

https://radiopaedia.org/articles/aids-embryopathy?lang=us

https://books.google.pt/books?id=wdNpBchvdvQC&pg=PA86&lpg=PA86&dq=AIDS+dysmorphic+syndrome&source=bl&ots=5rTlnAdkeq&sig=ACfU3U2cg47wVKAQQujjblnn_sNZpfiFpw&hl=pt-PT&sa=X&ved=2ahUKEwjHuPnyvajmAhWKoBQKHZVZCdAQ6AEwCnoECAsQAQ#v=onepage&q=AIDS%20dysmorphic%20syndrome&f=false


ALAD Porphyria

https://rarediseases.org/rare-diseases/alad-porphyria/

https://www.porphyriafoundation.org/for-patients/types-of-porphyria/adp/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC178534

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100924

https://emedicine.medscape.com/article/198248-clinical

Alagille Syndrome

https://ghr.nlm.nih.gov/condition/alagille-syndrome

https://en.wikipedia.org/wiki/Alagille_syndrome

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=52

https://www.chop.edu/conditions-diseases/alagille-syndrome

https://www.hopkinsmedicine.org/health/conditions-and-diseases/alagille-syndrome

 https://www.cincinnatichildrens.org/health/a/alagille-syndrome

Alexander Disease

https://ghr.nlm.nih.gov/condition/alexander-disease

https://rarediseases.info.nih.gov/diseases/5774/alexander-disease

https://rarediseases.org/rare-diseases/alexander-disease/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=58&lng=EN

 https://www.huntershope.org/family-care/leukodystrophies/alexander-disease/

https://www.healthline.com/health/Alexander-disease

https://www.chop.edu/conditions-diseases/alexander-disease


Alkaptonuria

https://rarediseases.org/rare-diseases/alkaptonuria/

https://en.wikipedia.org/wiki/Alkaptonuria

https://www.healthline.com/health/alkaptonuria

https://ghr.nlm.nih.gov/condition/alkaptonuria

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978898/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=56

https://www.nhs.uk/conditions/alkaptonuria/

https://emedicine.medscape.com/article/941530-overview

Alopecia Areata

https://ghr.nlm.nih.gov/condition/alopecia-areata

https://www.medicalnewstoday.com/articles/70956.php

https://en.wikipedia.org/wiki/Alopecia_areata

https://rarediseases.org/rare-diseases/alopecia-areata/

https://www.healthline.com/health/alopecia-areata

https://www.medscape.com/answers/1069931-62696/what-is-the-prevalence-of-alopecia-areata-in-down-syndrome

https://www.health.harvard.edu/a_to_z/alopecia-areata-a-to-z

https://jamanetwork.com/journals/jamadermatology/article-abstract/536351[MH1] 

Alpers Disease

https://rarediseases.org/rare-diseases/alpers-disease/

https://www.ninds.nih.gov/Disorders/All-Disorders/Alpers-Disease-Information-Page

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=726

https://jamanetwork.com/journals/jamaneurology/fullarticle/794999

https://www.dovepress.com/alpersndashhuttenlocher-syndrome-the-role-of-a-multidisciplinary-healt-peer-reviewed-fulltext-article-JMDH

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1469-8749.2006.tb01275.x


Alpha Thalassemia

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=PT&data_id=50&Disease_Disease_Search_diseaseGroup=thalassemia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Alpha-thalassemia&title=Alpha-thalassemia&search=Disease_Search_Simple

https://ghr.nlm.nih.gov/condition/alpha-thalassemia

https://en.wikipedia.org/wiki/Alpha-thalassemia

https://kidshealth.org/en/parents/thalassemias.html

https://www.hopkinsmedicine.org/health/conditions-and-diseases/alpha-thalassemia

https://emedicine.medscape.com/article/955496-overview

https://www.stjude.org/disease/alpha-thalassemia.html

https://rarediseases.org/rare-diseases/alpha-thalassemia

https://www.stanfordchildrens.org/en/topic/default?id=alpha-thalassemia-in-children-90-P02329


Alpha Thalassemia X-linked Intellectual Disability Syndrome

https://ghr.nlm.nih.gov/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome

https://www.ncbi.nlm.nih.gov/books/NBK1449/

https://rarediseases.org/rare-diseases/alpha-thalassemia-x-linked-intellectual-disability-syndrome/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=847

https://en.wikipedia.org/wiki/Alpha-thalassemia_mental_retardation_syndrome

https://www.webmd.com/children/atr-x-syndrome-overview#1
 https://complexchild.org/articles/2017-articles/july/atrx/

Alpha-1 Antitrypsin Deficiency

https://en.wikipedia.org/wiki/Alpha-1_antitrypsin_deficiency

https://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency

https://www.webmd.com/lung/copd/alpha-1-antitrypsin-deficiency-rare#1

https://rarediseases.org/rare-diseases/alpha-1-antitrypsin-deficiency/

https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0856-9

https://www.dovepress.com/anxiety-and-depression-in-patients-with-alpha-1-antitrypsin-deficiency-peer-reviewed-fulltext-article-TCRM

Alpha-Mannosidosis

https://ghr.nlm.nih.gov/condition/alpha-mannosidosis

https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis

https://en.wikipedia.org/wiki/Alpha-mannosidosis

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=61

https://rarediseases.org/rare-diseases/alpha-mannosidosis/

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-3-21

https://www.ema.europa.eu/en/documents/press-release/new-enzyme-replacement-therapy-treat-rare-genetic-disorder-alpha-mannosidosis-children-adults_en.pdf

https://www.centogene.com/clinical-studies/european-alpha-mannosidosis-patient-epidemiological-program-eumap.html

Alport Syndrome

https://ghr.nlm.nih.gov/condition/alport-syndrome

https://en.wikipedia.org/wiki/Alport_syndrome

https://www.kidney.org/atoz/content/alport

https://emedicine.medscape.com/article/238260-overview

https://www.alportsyndrome.org/alport-syndrome/alport-syndrome-genetics/

https://rarediseases.org/rare-diseases/alport-syndrome/

 https://www.dynamed.com/condition/alport-syndrome

Alström Syndrome

https://ghr.nlm.nih.gov/condition/alstrom-syndrome

https://rarediseases.info.nih.gov/diseases/5787/alstrom-syndrome

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64

https://en.wikipedia.org/wiki/Alström_syndrome

https://rarediseases.org/rare-diseases/alstrom-syndrome/

https://www.revespcardiol.org/en-sindrome-alstrom-una-rara-causa-articulo-S1885585717300853?redirect=true

http://www.bjorl.org/pt-familial-alstrom-syndrome-rare-cause-articulo-S180886941450033X

Alternating Hemiplegia of Childhood

https://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2131

https://rarediseases.org/rare-diseases/alternating-hemiplegia-of-childhood/

https://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood

http://ahc~kids.org/education/whatisahc/

https://n.neurology.org/content/74/14/e57

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

https://ghr.nlm.nih.gov/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4009999/
 https://rarediseases.org/rare-diseases/alveolar-capillary-dysplasia

https://en.wikipedia.org/wiki/Alveolar_capillary_dysplasia

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=210122
 https://www.atsjournals.org/doi/full/10.1164/rccm.201010-1697CI

Alveolar Soft Part Sarcoma

https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/alveolar-soft-part-sarcomas

https://rarediseases.org/rare-diseases/alveolar-soft-part-sarcoma/

https://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma

http://sarcomahelp.org/asps.html

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1860509/

https://www.pathologyoutlines.com/topic/softtissuealveolarsoft.html

https://www.medscape.com/answers/991351-162451/what-is-the-pathophysiology-of-the-alveolar-soft-part-sarcomas-type-of-nonrhabdomyosarcoma-soft-tissue-sarcomas-nrstss

http://www.danafarberbostonchildrens.org/conditions/solid-tumors/alveolar-soft-part-sarcoma.aspx

Ameloblastic Carcinoma

https://rarediseases.org/rare-diseases/ameloblastic-carcinoma/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3177477/ol.2014.2230

http://www.jdas.in/article.asp?issn=2277-4696;year=2017;volume=6;issue=2;spage=70;epage=73;aulast=Braimah

https://www.jomos.org/articles/mbcb/pdf/2017/02/mbcb160001.pdf

www.jiaomr.in/article.asp?issn=0972-1363;year=2017;volume=29;issue=3;spage=213;epage=216;aulast=Shah

Ameloblastoma

https://www.ncbi.nlm.nih.gov/books/NBK545165/

http://revodonto.bvsalud.org/scielo.php?pid=S1808-52102010000100012&script=sci_arttext

http://www.scielo.br/scielo.php?pid=S0102-36162014000300305&script=sci_arttext&tlng=pt

http://www.rb.org.br/detalhe_artigo.asp?id=1614&idioma=Portugues

file:///C:/Users/mjhal/AppData/Local/Packages/Microsoft.MicrosoftEdge_8wekyb3d8bbwe/TempState/Downloads/1142-Texto%20do%20artigo-6734-2-10-20170909%20(1).pdf


Amelogenesis Imperfecta

https://en.wikipedia.org/wiki/Amelogenesis_imperfecta

https://www.google.pt/search?sxsrf=ACYBGNThlwTqGmJ1def0ccNDsj01RStQKw%3A1575973677894&source=hp&ei=LXPvXZCpNO2ajLsPt9-1oAc&q=amelogenesis+imperfecta&oq=amelo&gs_l=psy-ab.1.8.35i39j35i39i19j35i39j0l7.2981.6489..17335...1.0..0.113.434.4j1......0....1..gws-wiz.......0i131.z8kC7pQ5E9Q

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1853073/

https://rarediseases.org/rare-diseases/amelogenesis-imperfecta/

https://www.healthline.com/health/amelogenesis-imperfecta

https://www.nature.com/articles/sj.bdj.2012.314

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88661

bxf

Amniotic Band Síndrome

https://fetus.ucsf.edu/amniotic-band-syndrome

https://en.wikipedia.org/wiki/Constriction_ring_syndrome

https://en.wikipedia.org/wiki/Constriction_ring_syndrome

https://amnioticbandsyndrome.com/

https://www.hopkinsmedicine.org/health/conditions-and-diseases/amniotic-band-syndrome

https://rarediseases.info.nih.gov/diseases/429/amniotic-band-syndrome

https://amnioticbandsyndrome.com

https://www.hopkinsmedicine.org/health/conditions-and-diseases/amniotic-band-syndrome

https://www.ncbi.nlm.nih.gov/books/NBK545283/

https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/amniotic-band-syndrome

https://chw.org/medical-care/fetal-concerns-center/conditions/infant-complications/amniotic-band-syndrome

Amniotic Fluid Embolism

https://www.mayoclinic.org/diseases-conditions/amniotic-fluid-embolism/symptoms-causes/syc-20369324

https://en.wikipedia.org/wiki/Amniotic_fluid_embolism

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4874066/

https://emedicine.medscape.com/article/253068-overview

https://rarediseases.org/rare-diseases/amniotic-fluid-embolism/

https://www.healthline.com/health/pregnancy/amniotic-fluid-embolism#symptoms/

https://www.msdmanuals.com/professional/gynecology-and-obstetrics/abnormalities-and-complications-of-labor-and-delivery/amniotic-fluid-embolism

https://www.afesupport.org/what-is-amniotic-fluid-embolism/

https://my.clevelandclinic.org/health/diseases/15463-amniotic-fluid-embolism-anaphylactic-syndrome-of-pregnancy

Amyotrophic Lateral Sclerosis

https://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis

https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Amyotrophic-lateral-Sclerosis-ALS-Fact-Sheet

https://www.mayoclinic.org/diseases-conditions/amyotrophic-lateral-sclerosis/symptoms-causes/syc-20354022

https://emedicine.medscape.com/article/1170097-overview

http://www.alsa.org/about-als/what-is-als.html

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=PT&data_id=106&Disease_Disease_Search_diseaseGroup=als&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Amyotrophic-lateral-sclerosis--ALS-&title=Amyotrophic-lateral-sclerosis--ALS-&search=Disease_Search_Simple

https://www.medicalnewstoday.com/articles/281472.php#causes_and_types

Anaplastic Astrocytoma

https://rarediseases.org/rare-diseases/anaplastic-astrocytoma/

https://en.wikipedia.org/wiki/Anaplastic_astrocytoma

https://braintumorcenter.ucsf.edu/condition/anaplastic-astrocytoma-grade-iii

https://www.healthline.com/health/anaplastic-astrocytoma

https://www.abta.org/wp-content/uploads/2018/03/glioblastoma-brochure.pdf

https://www.thebraintumourcharity.org/brain-tumour-diagnosis-treatment/types-of-brain-tumour-adult/astrocytoma/

https://www.webmd.com/cancer/brain-cancer/what-is-astrocytoma#1

Andersen Disease (GSD IV)

hhttps://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=16&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=367&Disease(s)/group%20of%20diseases=Andersen-disease&title=Andersen-disease&search=Disease_Search_Simplettps://rarediseases.org/rare-diseases/andersen-disease-gsd-iv/

https://rarediseases.org/rare-diseases/andersen-disease-gsd-iv/

https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_IV

https://emedicine.medscape.com/article/119690-overview

https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv

https://agsd.org.uk/all-about-gsd/gsd-variants/andersen-disease-gsd4/

Andersen-Tawil Syndrome

https://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome

https://rarediseases.info.nih.gov/diseases/9453/andersen-tawil-syndrome

https://en.wikipedia.org/wiki/AndersenTawil_syndrome

https://rarediseases.org/rare-diseases/andersen-tawil-syndrome/

https://n.neurology.org/content/84/11/e7

https://hkpp.org/physicians/ATS

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=37553

Anemia of Chronic Disease

https://en.wikipedia.org/wiki/Anemia_of_chronic_disease

https://www.msdmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/anemia-of-chronic-disease

https://rarediseases.org/rare-diseases/anemia-of-chronic-disease

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588399/

https://my.clevelandclinic.org/health/diseases/14477-anemia-of-chronic-disease

Anemia, Hemolytic, Acquired Autoimmune

https://www.webmd.com/a-to-z-guides/autoimmune-hemolytic-anemia#1

https://rarediseases.org/rare-diseases/anemia-hemolytic-acquired-autoimmune/

https://rarediseases.info.nih.gov/diseases/5870/autoimmune-hemolytic-anemia

https://www.hopkinsmedicine.org/health/conditions-and-diseases/hemolytic-anemia

https://www.medicalnewstoday.com/articles/312508.php

https://www.healthline.com/health/idiopathic-autoimmune-hemolytic-anemia#symptoms

https://www.merckmanuals.com/home/blood-disorders/anemia/autoimmune-hemolytic-anemia


Anemia, Hemolytic, Cold Antibody

https://rarediseases.org/rare-diseases/anemia-hemolytic-cold-antibody/

https://en.wikipedia.org/wiki/Cold_autoimmune_hemolytic_anemia

https://www.msdmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/autoimmune-hemolytic-anemia

https://rarediseases.info.nih.gov/diseases/6130/cold-agglutinin-disease

https://emedicine.medscape.com/article/135327-overview

https://www.hematologyandoncology.net/archives/june-2019/how-i-treat-cold-agglutinin-hemolytic-anemia/

https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/critical-care-medicine/autoimmune-hemolytic-anemia-warm-agglutinin-disease-cold-agglutinin-disease/


Anemia, Hereditary Nonspherocytic Hemolytic

https://rarediseases.org/rare-diseases/anemia-hereditary-nonspherocytic-hemolytic/

https://ashpublications.org/blood/article/5/3/233/6933/HEREDITARY-NONSPHEROCYTIC-HEMOLYTIC-ANEMIA

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC297293/

https://annals.org/aim/article-abstract/678579/hereditary-non-spherocytic-hemolytic-anemia-pyruvate-kinase-deficient-type

https://ashpublications.org/blood/article/51/5/935/161012/Hereditary-nonspherocytic-hemolytic-anemia-and

 https://www.jci.org/articles/view/117846

Anemia, Megaloblastic

https://en.wikipedia.org/wiki/Megaloblastic_anemia

https://www.healthline.com/health/megaloblastic-anemia

https://rarediseases.org/rare-diseases/anemia-megaloblastic/

https://emedicine.medscape.com/article/204066-overview

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1570488/

http://www.danafarberbostonchildrens.org/conditions/blood-disorders/pernicious-anemia.aspx

https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/hematology/megaloblastic-anemia/

Anemia, Pernicious

https://en.wikipedia.org/wiki/Vitamin_B12_deficiency_anemia

https://www.healthline.com/health/pernicious-anemia

https://www.healthline.com/health/pernicious-anemia

https://www.webmd.com/a-to-z-guides/pernicious-anemia#1

https://rarediseases.org/rare-diseases/anemia-pernicious/

https://pernicious-anaemia-society.org/symptoms/

https://www.nhs.uk/conditions/vitamin-b12-or-folate-deficiency-anaemia/causes/

https://www.medicalnewstoday.com/articles/322498.php

Anemias, Sideroblastic

https://en.wikipedia.org/wiki/Sideroblastic_anemia

https://emedicine.medscape.com/article/1389794-overview

https://www.webmd.com/a-to-z-guides/sideroblastic-anemia#1

https://www.msdmanuals.com/pt/profissional/hematologia-e-oncologia/anemias-causadas-por-eritropoese-deficiente/anemias-sideroblásticas

https://rarediseases.org/rare-diseases/anemias-sideroblastic/

 https://rarediseases.info.nih.gov/diseases/667/sideroblastic-anemia

https://www.ncbi.nlm.nih.gov/books/NBK538287/

https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/hematology/sideroblastic-anemia/

Anencephaly

https://en.wikipedia.org/wiki/Anencephaly

https://www.cdc.gov/ncbddd/birthdefects/anencephaly.html

https://ghr.nlm.nih.gov/condition/anencephaly

https://emedicine.medscape.com/article/1181570-overview

https://www.fetalhealthfoundation.org/fetal-syndromes/anencephaly/

 https://my.clevelandclinic.org/health/diseases/15032-anencephaly

https://www.stlouischildrens.org/conditions-treatments/anencephaly

https://www.healthline.com/health/anencephaly

https://rarediseases.org/rare-diseases/anencephaly/

Angelman Syndrome

https://en.wikipedia.org/wiki/Angelman_syndrome

https://ghr.nlm.nih.gov/condition/angelman-syndrome

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=PT&data_id=90&Disease_Disease_Search_diseaseGroup=Angelman-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Angelman-syndrome&title=Angelman-syndrome&search=Disease_Search_Simple

https://www.mayoclinic.org/diseases-conditions/angelman-syndrome/symptoms-causes/syc-20355621

https://rarediseases.org/rare-diseases/angelman-syndrome/

https://www.nhs.uk/conditions/angelman-syndrome/

Aniridia

https://ghr.nlm.nih.gov/condition/aniridia

https://ghr.nlm.nih.gov/condition/wagr-syndrome

https://en.wikipedia.org/wiki/Aniridia

https://en.wikipedia.org/wiki/WAGR_syndrome

https://eyewiki.aao.org/Aniridia

https://www.aao.org/eyenet/article/diagnosis-management-of-aniridia

https://emedicine.medscape.com/article/1208379-overview

https://rarediseases.org/rare-diseases/aniridia/

https://www.aniridia.eu/what-is-aniridia/



Cerebellar Ataxia Mental Deficiency

https://rarediseases.org/rare-diseases/aniridia-cerebellar-ataxia-mental-deficiency/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1065

https://en.wikipedia.org/wiki/Gillespie_syndrome

https://disorders.eyes.arizona.edu/category/alternate-names/aniridia-cerebellar-ataxia-and-mental-retardation-syndrome

https://www.omim.org/entry/206700



Anthrax

https://en.wikipedia.org/wiki/Anthrax

https://www.cdc.gov/anthrax/index.html

https://www.mayoclinic.org/diseases-conditions/anthrax/symptoms-causes/syc-20356203


Antiphospholipid Syndrome

https://emedicine.medscape.com/article/333221-overview

https://en.wikipedia.org/wiki/Antiphospholipid_syndrome

https://www.mayoclinic.org/diseases-conditions/antiphospholipid-syndrome/symptoms-causes/syc-20355831

https://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Antiphospholipid-Syndrome

https://www.nhs.uk/conditions/antiphospholipid-syndrome/

https://www.versusarthritis.org/about-arthritis/conditions/antiphospholipid-syndrome/

https://rarediseases.org/rare-diseases/antiphospholipid-syndrome/

https://www.webmd.com/dvt/what-is-antiphospholipid-syndrome#1

https://rarediseases.info.nih.gov/diseases/5824/antiphospholipid-syndrome


Antisynthetase Syndrome

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006392/

https://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrom

https://www.myositis.org/about-myositis/complications/antisynthetase-syndrome/

https://en.wikipedia.org/wiki/Antisynthetase_syndrome

https://dermnetnz.org/topics/antisynthetase-syndrome/

https://rarediseases.org/rare-diseases/antisynthetase-syndrome/

https://www.orpha.net/data/patho/GB/uk-antisynthetase.pdf

https://www.mdedge.com/ccjm/article/95881/pulmonology/antisynthetase-syndrome-not-just-inflammatory-myopathy

Antithrombin Deficiency

https://rarediseases.org/rare-diseases/antithrombin-deficiency/

https://emedicine.medscape.com/article/198573-overview

https://en.wikipedia.org/wiki/Antithrombin_III_deficiency

https://www.stoptheclot.org/news/antithrombin-deficiency/

https://ghr.nlm.nih.gov/condition/hereditary-antithrombin-deficiency

https://rarediseases.info.nih.gov/diseases/6148/hereditary-antithrombin-deficiency

Antley-Bixler Syndrome

https://rarediseases.org/rare-diseases/antley-bixler-syndrome/

https://en.wikipedia.org/wiki/AntleyBixler_syndrome

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83

https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome

https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/antley-bixler-syndrome

AP-4-Associated Hereditary Spastic Paraplegia (AP-4-HSP)

http://cureap4.org/

https://www.ncbi.nlm.nih.gov/books/NBK535153/

https://rarediseases.info.nih.gov/diseases/13737/ap-4-associated-hereditary-spastic-paraplegia

https://www.mdsabstracts.org/abstract/adaptor-protein-complex-4-associated-hereditary-spastic-paraplegia-ap-4-hsp-a-paradigm-of-childhood-onset-hereditary-spastic-paraplegia-caused-by-defective-protein-trafficking/

http://www.childrenshospital.org/conditions-and-treatments/conditions/s/spastic-paraplegia-47

https://www.frontiersin.org/articles/10.3389/fneur.2019.00131/full

Apert Syndrome

https://ghr.nlm.nih.gov/condition/apert-syndrome

https://en.wikipedia.org/wiki/Apert_syndrome

https://www.webmd.com/children/apert-syndrome-symptoms-treatments-prognosis#1

https://emedicine.medscape.com/article/941723-overview

https://rarediseases.org/rare-diseases/apert-syndrome/

https://www.medicalnewstoday.com/articles/320907.php

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=PT&data_id=261&Disease(s)/group%20of%20diseases=Apert-syndrome&title=Apert%20syndrome&search=Disease_Search_Simple&ChdId=0

Aplasia Cutis Congenita

https://revistas.rcaap.pt/nascercrescer/article/view/9459

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=PT&data_id=3198&MISSING%20CONTENT=Aplasia-cutis-congenita&search=Disease_Search_Simple&title=Aplasia%20cutis%20congenita

https://rarediseases.info.nih.gov/diseases/5835/aplasia-cutis-congenita

https://emedicine.medscape.com/article/1110134-overview

https://en.wikipedia.org/wiki/Aplasia_cutis_congenita

https://rarediseases.org/rare-diseases/aplasia-cutis-congenita/

https://dermnetnz.org/topics/aplasia-cutis


Apnea, Infantile

https://en.wikipedia.org/wiki/Infantile_apnea

https://rarediseases.org/rare-diseases/apnea-infantile/

https://www.ncbi.nlm.nih.gov/books/NBK441969/

https://emedicine.medscape.com/article/800032-overview

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=70590

https://pediatrics.aappublications.org/content/111/4/914

Apraxia

https://en.wikipedia.org/wiki/Apraxia

https://www.webmd.com/brain/apraxia-symptoms-causes-tests-treatments#1

https://www.mayoclinic.org/diseases-conditions/childhood-apraxia-of-speech/symptoms-causes/syc-20352045

https://rarediseases.org/rare-diseases/apraxia/

https://www.ninds.nih.gov/Disorders/All-Disorders/Apraxia-Information-Page

https://emedicine.medscape.com/article/1136037-overview

https://www.apraxia-kids.org/apraxia_kids_library/genetic-metabolic-and-mitochondrial-disorders

Arachnoid [Manuel Ha1] Cysts

https://www.hopkinsmedicine.org/health/conditions-and-diseases/arachnoid-cysts

https://rarediseases.org/rare-diseases/arachnoid-cysts

https://en.wikipedia.org/wiki/Arachnoid_cyst

https://radiopaedia.org/articles/arachnoid-cyst

https://www.ninds.nih.gov/Disorders/All-Disorders/Arachnoid-Cysts-Information-Page

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991924/

https://jnnp.bmj.com/content/69/5/699

https://www.healthline.com/health/arachnoid-cysts


Arachnoiditis

https://www.webmd.com/pain-management/guide/pain-management-arachnoiditis#1

https://en.wikipedia.org/wiki/Arachnoiditis

https://rarediseases.org/rare-diseases/arachnoiditis/

https://www.medicalnewstoday.com/articles/320811.php

https://my.clevelandclinic.org/health/diseases/12062-arachnoiditis

https://www.practicalpainmanagement.com/pain/spine/arachnoiditis-part-1-clinical-description

https://rarediseases.info.nih.gov/diseases/5839/arachnoiditis

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=16721&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=137817&Disease%28s%29/group%20of%20diseases=Adhesive-arachnoiditis&title=Adhesive-arachnoiditis

https://www.spinalcord.com/blog/arachnoiditis-what-you-need-to-know

https://www.healthline.com/health/arachnoiditis

Arginase-1 Deficiency

https://rarediseases.org/rare-diseases/arginase-deficiency/

https://ghr.nlm.nih.gov/condition/arginase-deficiency

https://rarediseases.info.nih.gov/diseases/5840/arginase-deficiency

https://www.medicalhomeportal.org/diagnoses-and-conditions/arginase-deficiency

https://emedicine.medscape.com/article/941838-overview

https://en.wikipedia.org/wiki/Argininemia

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=417&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=90&Disease(s)/group%20of%20diseases=Arginase-deficiency&title=Arginase-deficiency&search=Disease_Search_Simple

https://www.medlink.com/index.php/article/hyperargininemia

https://www.neurologyadvisor.com/uncategorized/fda-designates-pegzilarginase-breakthrough-therapy-for-arginase-1-deficiency/


Argininie: Glycine Amidinotransferase Deficiency

https://ghr.nlm.nih.gov/condition/arginineglycine-amidinotransferase-deficienc

 https://rarediseases.info.nih.gov/diseases/10323/l-arginineglycine-amidinotransferase-deficiency

https://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase_deficiency

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35704

https://rarediseases.org/rare-diseases/argininie-glycine-amidinotransferase-deficiency/

https://academic.oup.com/hmg/article/22/1/110/616255

https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0577-5

Argininosuccinic Aciduria

https://ghr.nlm.nih.gov/condition/argininosuccinic-aciduria

https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria

https://rarediseases.org/rare-diseases/argininosuccinic-aciduria/

https://en.wikipedia.org/wiki/Argininosuccinic_aciduria

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=PT&data_id=459&Disease_Disease_Search_diseaseGroup=Argininosuccinic-aciduria&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Argininosuccinic-aciduria&title=Argininosuccinic-aciduria&search=Disease_Search_Simple

https://omim.org/entry/207900

https://www.medicalhomeportal.org/newborn/argininosuccinic-aciduria

Arterial Tortuosity Syndrome

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3342

https://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome

https://rarediseases.org/rare-diseases/arterial-tortuosity-syndrome/

https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.107.739839

https://www.nature.com/articles/gim2017253

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-20

https://jamanetwork.com/journals/jamaneurology/fullarticle/802481

Arteriovenous Malformation

https://www.mayoclinic.org/diseases-conditions/brain-avm/symptoms-causes/syc-20350260

https://www.stroke.org/en/about-stroke/types-of-stroke/hemorrhagic-strokes-bleeds/what-is-an-arteriovenous-malformation

https://en.wikipedia.org/wiki/Arteriovenous_malformation

https://www.hopkinsmedicine.org/health/conditions-and-diseases/arteriovenous-malformations

https://www.aans.org/Patients/Neurosurgical-Conditions-and-Treatments/Arteriovenous-Malformations

https://mayfieldclinic.com/pe-avm.htm

https://kidshealth.org/en/parents/arteriovenous-malformations.html

https://emedicine.medscape.com/article/1160167-overview

Arteritis, Takayasu

https://emedicine.medscape.com/article/332378-overview

https://www.mayoclinic.org/diseases-conditions/takayasus-arteritis/symptoms-causes/syc-20351335

https://en.wikipedia.org/wiki/Takayasu%27s_arteritis

https://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Takayasus-Arteritis

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1769710/

https://www.webmd.com/heart-disease/takayasus-arteritis#1

https://www.vasculitisfoundation.org/education/forms/takayasus-arteritis/

https://www.dynamed.com/condition/takayasu-arteriti

Arthritis, Infectious

https://www.arthritis.org/about-arthritis/types/infectious-arthritis/

https://rarediseases.org/rare-diseases/arthritis-infectious/

https://www.health.harvard.edu/a_to_z/infectious-arthritis-a-to-z

https://www.webmd.com/arthritis/septic-arthritis-symptoms-diagnosis-and-treatment#1

https://www.healthline.com/health/septic-arthritis

https://www.medicalnewstoday.com/articles/323049.php

https://www.msdmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/infections-of-joints-and-bones/acute-infectious-arthritis

https://www.mayoclinic.org/diseases-conditions/bone-and-joint-infections/symptoms-causes/syc-20350755

Arthritis, Psoriatic

https://wwtyhjw22w.mayoclinic.org/diseases-conditions/psoriatic-arthritis/symptoms-causes/syc-20354076

https://www.webmd.com/arthritis/psoriatic-arthritis/default.htm

https://emedicine.medscape.com/article/2196539-overview

https://www.healthline.com/health/psoriatic-arthritis

https://www.versusarthritis.org/about-arthritis/conditions/psoriatic-arthritis/

https://www.nhs.uk/conditions/psoriatic-arthritis/

https://www.aad.org/diseases/psoriasis/psoriatic-arthritis-treatment

https://www.rheumatology.org/I-Am-A/Patient-Caregiver/Diseases-Conditions/Psoriatic-Arthritis

https://www.medicalnewstoday.com/articles/322632.php

Arthrogryposis Multiplex Congenita

https://en.wikipedia.org/wiki/Arthrogryposis

https://rarediseases.org/rare-diseases/arthrogryposis-multiplex-congenita/

https://www.msdmanuals.com/pt/profissional/pediatria/anormalidades-craniofaciais-e-musculoesqueléticas-congênitas/artrogripose-múltipla-congênita

https://www.orpha.net/data/patho/Pro/en/Arthrogryposis-multiplex-congenita.pdf

https://emedicine.medscape.com/article/941917-overview

https://www.dovepress.com/ashermans-syndrome-current-perspectives-on-diagnosis-and-management-peer-reviewed-fulltext-article-IJWH

ASAH1-Related Disorders

https://www.ncbi.nlm.nih.gov/books/NBK488189/

https://rarediseases.org/rare-diseases/farbers-disease/

https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0845-z

https://www.nature.com/articles/ejhg201628

Asherman’s Syndrome

https://en.wikipedia.org/wiki/Asherman%27s_syndrome

https://www.healthline.com/health/womens-health/asherman-syndrome

https://my.clevelandclinic.org/health/diseases/16561-ashermans-syndrome

https://rarediseases.org/rare-diseases/ashermans-syndrome/

https://www.ncbi.nlm.nih.gov/books/NBK448088/

https://rbej.biomedcentral.com/articles/10.1186/1477-7827-11-118

https://www.dovepress.com/ashermans-syndrome-current-perspectives-on-diagnosis-and-management-peer-reviewed-fulltext-article-IJWH

Asherson’s Syndrome

https://rarediseases.org/rare-diseases/ashersons-syndrome/

https://en.wikipedia.org/wiki/Catastrophic_antiphospholipid_syndrome

 http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0482-50042005000600007

https://www.reumatologiaclinica.org/en-catastrophic-antiphospholipid-antibody-syndrome-presenting-articulo-S1699258X16301073

Aspartylglycosaminuria

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=PT&Expert=93

https://asdoencasraras.blogspot.com/2012/10/aspartilglicosaminuria.html

https://www.diseasemaps.org/pt/aspartylglycosaminuria/top-questions/como-e-diagnosticada/

file:///C:/Users/mjhal/AppData/Local/Packages/Microsoft.MicrosoftEdge_8wekyb3d8bbwe/TempState/Downloads/297-PAP_Zanetti,_Bruna_Riedo_Aliberti_Marcos_Vinicius_2008%20(1).pdf

Aspergillosis

https://www.mayoclinic.org/diseases-conditions/aspergillosis/symptoms-causes/syc-20369619

https://www.cdc.gov/fungal/diseases/aspergillosis/index.html

https://en.wikipedia.org/wiki/Aspergillosis

https://emedicine.medscape.com/article/296052-overview

https://www.pharmaceutical-journal.com/cpd-and-learning/learning-article/aspergillosis-causes-types-and-treatment/20206738.article?firstPass=false

https://www.healthline.com/health/aspergillosis

https://www.pharmaceutical-journal.com/cpd-and-learning/learning-article/aspergillosis-causes-types-and-treatment/20206738.article


Asphyxiating Thoracic Dystrophy

https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy

https://en.wikipedia.org/wiki/Asphyxiating_thoracic_dysplasia

https://emedicine.medscape.com/article/945537-overview

https://radiopaedia.org/articles/asphyxiating-thoracic-dysplasia

https://rarediseases.org/rare-diseases/dystrophy-asphyxiating-thoracic/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=474

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-70942012000300014&lng=en&nrm=iso&tlng=en

Astrocytoma

https://en.wikipedia.org/wiki/Astrocytoma

https://www.mayoclinic.org/diseases-conditions/astrocytoma/cdc-20350132

https://www.abta.org/tumor_types/astrocytoma/

https://www.abta.org/tumor_types/astrocytoma/

https://www.thebraintumourcharity.org/brain-tumour-diagnosis-treatment/types-of-brain-tumour-adult/astrocytoma/

https://www.aans.org/en/Patients/Neurosurgical-Conditions-and-Treatments/Astrocytoma-Tumors

https://www.webmd.com/cancer/brain-cancer/what-is-astrocytoma#1

https://rarediseases.org/rare-diseases/astrocytoma/

https://www.cancer.ca/en/cancer-information/cancer-type/brain-spinal/brain-and-spinal-tumours/astrocytoma/?region=on

Ataxia telangiectasia

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=PT&Expert=100

https://www.msdmanuals.com/pt-pt/casa/doenças-imunológicas/doenças-decorrentes-de-imunodeficiência/ataxia-telangiectasia

https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia

https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia

https://en.wikipedia.org/wiki/Ataxiatelangiectasia

https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0543-7

https://rarediseases.org/rare-diseases/ataxia-telangiectasia/

https://emedicine.medscape.com/article/1113394-overview

https://www.cancer.gov/about-cancer/causes-prevention/genetics/ataxia-fact-sheet

http://pennstatehershey.adam.com/content.aspx?productid=117&pid=1&gid=001394

Ataxia with Vitamin E Deficiency

https://rarediseases.info.nih.gov/diseases/8595/ataxia-with-vitamin-e-deficiency

https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96

https://rarediseases.org/rare-diseases/ataxia-with-vitamin-e-deficiency/

https://www.hindawi.com/journals/crinm/2016/8342653

https://jnnp.bmj.com/content/64/3/368

https://www.e-jmd.org/upload/jmd-8-1-33.pdf

https://journals.lww.com/jpgn/Fulltext/2001/08000/Ataxia_With_Isolated_Vitamin_E_Deficiency__Case.22.aspx

Atransferrinemia

https://rarediseases.org/rare-diseases/atransferrinemia/

https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia

https://en.wikipedia.org/wiki/Atransferrinemia

https://ashpublications.org/blood/article/96/13/4071/176175/Molecular-characterization-of-a-case-of

https://www.cambridge.org/core/books/handbook-of-iron-overload-disorders/hereditary-atransferrinemia/214E8F3B5B6974DBF47711B07BE6ED3



Atrial Septal Defects

https://www.mayoclinic.org/diseases-conditions/atrial-septal-defect/symptoms-causes/syc-20369715

https://en.wikipedia.org/wiki/Atrial_septal_defect

https://kidshealth.org/en/parents/asd.html

https://emedicine.medscape.com/article/162914-overview

https://www.cdc.gov/ncbddd/heartdefects/atrialseptaldefect.html

https://www.stanfordchildrens.org/en/topic/default?id=atrial-septal-defect-asd-90-P01766

https://www.achaheart.org/your-heart/health-information/atrial-septal-defect/

 

Atrioventricular Septal Defect

https://www.cdc.gov/ncbddd/heartdefects/avsd.html

https://en.wikipedia.org/wiki/Atrioventricular_septal_defect

https://www.msdmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/atrioventricular-septal-defect

https://rarediseases.org/rare-diseases/atrioventricular-septal-defect/

https://emedicine.medscape.com/article/893914-overview

https://www.seattlechildrens.org/conditions/atrioventricular-septal-defect/

https://www.mottchildren.org/conditions-treatments/ped-heart/conditions/atrioventricular-septal-defect

 https://www.chfed.org.uk/how-we-help/information-service/heart-conditions/atrioventricular-septal-defect-avsd/




Atypical Hemolytic Uremic Syndrome

https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome

https://rarediseases.info.nih.gov/diseases/8702/atypical-hemolytic-uremic-syndrome

https://en.wikipedia.org/wiki/Atypical_hemolytic_uremic_syndrome

https://rarediseases.org/rare-diseases/atypical-hemolytic-uremic-syndrome/

https://www.kidneyfund.org/kidney-disease/other-kidney-conditions/rare-diseases/atypical-hemolytic-uremic-syndrome/

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-60

https://www.revistanefrologia.com/en-an-update-for-atypical-haemolytic-uraemic-syndrome-diagnosis-treatment-a-articulo-X2013251413002681

https://ashpublications.org/hematology/article/2012/1/617/83828/Atypical-hemolytic-uremic-syndrome-what-is-it-how



Autoimmune Hepatitis

https://ashpublications.org/hematology/article/2012/1/617/83828/Atypical-hemolytic-uremic-syndrome-what-is-it-how

https://www.webmd.com/hepatitis/autoimmune-hepatitis#1

https://en.wikipedia.org/wiki/Autoimmune_hepatitis

https://emedicine.medscape.com/article/172356-overview

https://liverfoundation.org/for-patients/about-the-liver/diseases-of-the-liver/autoimmune-hepatitis/

https://britishlivertrust.org.uk/information-and-support/living-with-a-liver-condition/liver-conditions/autoimmune-hepatitis/

https://www.healthline.com/health/autoimmune-hepatiti

https://rarediseases.info.nih.gov/diseases/5871/autoimmune-hepatitis



Autoimmune Polyendocrine Syndrome Type II

https://rared-liseases.info.nih.gov/diseases/7611/autoimmune-polyglandular-syndrome-type-2

https://rarediseases.org/rare-diseases/autoimmune-polyendocrine-syndrome-type-ii/

https://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2

https://www.aafp.org/afp/2007/0301/p667.htm

https://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2

https://emedicine.medscape.com/article/124287-overview

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2812&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3143&Disease(s)/group%20of%20diseases=Autoimmune-polyendocrine-syndrome-type-2&title=Autoimmune-polyendocrine-syndrome-type-2&search=Disease_Search_Simple

https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_Diabetes_Guide/547131/all/Schmidt_Syndrome

https://dermnetnz.org/topics/autoimmune-polyglandular-syndrome-type-2/

http://www.hormones.gr/843/article/article.html



Autoimmune Polyglandular Syndrome Type 1

https://rarediseases.org/rare-diseases/autoimmune-polyglandular-syndrome-type-1/

https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-

1

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3035&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3453&Disease(s)/group%20of%20diseases=Autoimmune-polyglandular-syndrome-type-1&title=Autoimmune-polyglandular-syndrome-type-1&search=Disease_Search_Simple

https://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_1

https://academic.oup.com/jcem/article/83/4/1049/2865085

https://emedicine.medscape.com/article/124183-overview

https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-0870-3

https://dermnetnz.org/topics/autoimmune-polyglandular-syndrome-type-1/

https://www.em-consulte.com/en/article/774464



Autoinflammation with Infantile Enterocolitis

https://rarediseases.org/rare-diseases/autoinflammation-infantile-enterocolitis/

https://www.genome.jp/dbget-bin/www_bget?ds:H01748

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177367/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=436166



Autosomal Dominant Hereditary Ataxia

https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/

https://www.ncbi.nlm.nih.gov/books/NBK1138/

https://en.wikipedia.org/wiki/Autosomal_dominant_cerebellar_ataxia

https://www.medlink.com/index.php/article/autosomal_dominant_hereditary_ataxias

https://www.nature.com/articles/gim201328

https://www.orpha.net/data/patho/GB/uk-SCA.pdf

https://www.mayoclinic.org/diseases-conditions/ataxia/symptoms-causes/syc-20355652



Autosomal Dominant Hyper IgE Syndrome

https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome

https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome

https://rarediseases.org/rare-diseases/autosomal-dominant-hyper-ige-syndrome/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2314&lng=EN

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-76



Autosomal Dominant Polycystic Kidney Disease

https://en.wikipedia.org/wiki/Autosomal_dominant_polycystic_kidney_disease

https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease

https://www.nhs.uk/conditions/autosomal-dominant-polycystic-kidney-disease-adpkd/

https://emedicine.medscape.com/article/244907-overview

https://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/symptoms-causes/syc-20352820

https://emedicine.medscape.com/article/244907-overview

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=730

https://www.revistanefrologia.com/en-overview-autosomal-dominant-polycystic-kidney-articulo-S201325141830035X



Autosomal Dominant Porencephaly Type I

https://rarediseases.org/rare-diseases/autosomal-dominant-porencephaly-type-i/

https://en.wikipedia.org/wiki/Autosomal_dominant_porencephaly_type_I

https://ghr.nlm.nih.gov/condition/familial-porencephaly

https://www.ncbi.nlm.nih.gov/books/NBK7046/

https://www.ahajournals.org/doi/full/10.1161/strokeaha.110.581918

https://n.neurology.org/content/91/22/e2078

https://www.orpha.net/consor/www/cgi-bin/Disease_Search.php?lng=EN&data_id=11037&MISSING%20CONTENT=Autosomal-dominant-familial-hematuria---retinal-arteriolar-tortuosity---contractures&search=Disease_Search_Simple&title=Autosomal-dominant-familial-hematuria---retinal-arteriolar-tortuosity---contractures

https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.37527



Autosomal Dominant Tubulo-Interstitial Kidney Disease

https://rarediseases.org/rare-diseases/autosomal-dominant-interstitial-kidney-disease/

https://kdigo.org/wp-content/uploads/2017/02/KDIGO_ADTKD-2015.pdf

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746258/

https://www.ncbi.nlm.nih.gov/books/NBK1356/

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34149

https://www.revistanefrologia.com/en-a-review-on-autosomal-dominant-articulo-S2013251417301098

https://www.kidney-international.org/article/S2157-1716(15)32277-2/fulltext

https://www.genome.jp/dbget-bin/www_bget?ds:H00541



Autosomal Recessive Hypophosphatemic Rickets Type 2

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289176

https://www.iofbonehealth.org/osteoporosis-musculoskeletal-disorders/skeletal-rare-disorders/autosomal-recessive-hypophosphatemic

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820183/

https://rarediseases.org/rare-diseases/autosomal-recessive-hypophosphatemic-rickets-type-2/

https://www.genome.jp/dbget-bin/www_bget?ds:H02139

https://www.hindawi.com/journals/crie/2019/8917519/



Autosomal Recessive Polycystic Kidney Disease

https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease

https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-recessive-pkd

https://rarediseases.org/rare-diseases/autosomal-recessive-polycystic-kidney-disease/

https://en.wikipedia.org/wiki/Autosomal_recessive_polycystic_kidney_disease

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=731

https://emedicine.medscape.com/article/983281-overview





B







Babesiosis

https://www.cdc.gov/parasites/babesiosis/index.html

https://www.ecdc.europa.eu/en/all-topics-z/babesiosis/facts-about-babesiosis

https://www.healthline.com/health/babesia

https://www.webmd.com/a-to-z-guides/babesiosis-blood-infection#1

https://emedicine.medscape.com/article/212605-overview

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=108

https://rarediseases.org/rare-diseases/babesiosis/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3998201/



Balantidiasis

https://en.wikipedia.org/wiki/Balantidiasis

https://www.cdc.gov/dpdx/balantidiasis/index.html

https://emedicine.medscape.com/article/213077-overview

https://rarediseases.org/rare-diseases/balantidiasis

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1223

https://www.pathologyoutlines.com/topic/colonbalantidiasis.html

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1942641/

https://www.visualdx.com/visualdx/diagnosis/balantidiasis?diagnosisId=54854&moduleId=101







Baller-Gerold Syndrome

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=PT&data_id=1469&MISSING%20CONTENT=Baller-Gerold-syndrome&search=Disease_Search_Simple&title=Baller-Gerold-syndrome

https://ghr.nlm.nih.gov/condition/baller-gerold-syndrome

https://en.wikipedia.org/wiki/BallerGerold_syndrome

https://rarediseases.org/rare-diseases/baller-gerold-syndrome/

https://disorders.eyes.arizona.edu/handouts/baller-gerold-syndrome

https://www.hindawi.com/journals/isrn/2011/962084/


Balo Disease

https://rarediseasesba.org/rare-diseases/balo-disease/

https://www.webmd.com/multiple-sclerosis/balos-disease#1

https://en.wikipedia.org/wiki/Balo_concentric_sclerosis

https://www.nationalmssociety.org/What-is-MS/Related-Conditions/Balos-Disease

https://radiopaedia.org/articles/balo-concentric-sclerosis-3?lang=us

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3678695/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386112

/

Bantis Syndrome

https://en.wikipedia.org/wiki/Banti%27s_syndrome

https://rarediseases.org/rare-diseases/bantis-syndrome/

https://jamanetwork.com/journals/jama/article-abstract/30816

https://www.gastrojournal.org/article/0016-5085(87)90028-X/pdf

https://adc.bmj.com/content/archdischild/11/65/233.full.pdf

https://annals.org/aim/article-abstract/673638/etiology-banti-s-syndrome-further-support-congestive-splenomegaly-hypothesis

https://annals.org/aim/article-abstract/672086/pathogenesis-banti-s-disease



Barakat Syndrome

https://rarediseases.info.nih.gov/diseases/2911/barakat-syndrome

https://en.wikipedia.org/wiki/Barakat_syndrome

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2110&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2237&Disease(s)/group%20of%20diseases=Barakat-syndrome&title=Barakat-syndrome&search=Disease_Search_Simple

https://rarediseases.org/rare-diseases/barakat-syndrome/

https://www.revistanefrologia.com/en-barakat-syndrome-or-hdr-syndrome-articulo-S2013251416000353

https://www.hindawi.com/journals/crin/2013/261907/

https://www.omim.org/entry/146255



Bardet-Biedl Syndrome

https://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome

https://en.wikipedia.org/wiki/BardetBiedl_syndrome

https://www.orpha.net/consor/cgi-bin/Disease_Genes.php?lng=PT&data_id=15354&MISSING%20CONTENT=Bardet-Biedl-syndrome-2&search=Disease_Genes_Simple&title=Bardet-Biedl-syndrome-2

https://rarediseases.org/rare-diseases/bardet-biedl-syndrome/

https://www.bardetbiedl.org/what-is-bbs

https://www.nature.com/articles/ejhg2012115

https://www.news-medical.net/health/What-is-Bardet-Biedl-Syndrome-(Portuguese).aspx



Barth Syndrome

https://ghr.nlm.nih.gov/condition/barth-syndrome

https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome

https://en.wikipedia.org/wiki/Barth_syndrome

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=111

https://rarediseases.org/rare-diseases/barth-syndrome/

https://www.barthsyndrome.org/barthsyndrome/whatisbarthsyndrome.html

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-8-23



Bartonellosis

https://en.wikipedia.org/wiki/Bartonellosis

https://rarediseases.org/rare-diseases/bartonellosis/

https://www.columbia-lyme.org/bartonellosis

https://www.ncbi.nlm.nih.gov/books/NBK430874/

https://emedicine.medscape.com/article/213169-overview

https://www.cdc.gov/bartonella/index.html

https://www.cdc.gov/bartonella/transmission/index.html



Bartter syndrome

https://en.wikipedia.org/wiki/Bartter_syndrome

https://emedicine.medscape.com/article/238670-overview

https://ghr.nlm.nih.gov/condition/bartter-syndrome

https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=112

https://rarediseases.org/rare-diseases/bartters-syndrome/

https://www.webmd.com/children/bartter-syndrome-facts#1



Beckwith-Wiedemann Syndrome

https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome

https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome

https://en.wikipedia.org/wiki/BeckwithWiedemann_syndrome

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=PT&Expert=116

https://www.cancer.net/cancer-types/beckwith-wiedemann-syndrome

https://emedicine.medscape.com/article/919477-overview

https://rarediseases.org/rare-diseases/beckwith-wiedemann-syndrome/

https://www.chop.edu/conditions-diseases/beckwith-wiedemann-syndrome

https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/beckwith-wiedemann-syndrome-bws





Behçet  Syndrome

https://www.mayoclinic.org/diseases-conditions/behcets-disease/symptoms-causes/syc-20351326

https://emedicine.medscape.com/article/329099-overview

https://en.wikipedia.org/wiki/Behçet%27s_disease

https://www.nhs.uk/conditions/behcets-disease/

https://ghr.nlm.nih.gov/condition/behcet-disease

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297594/

https://www.healthline.com/health/behcets-disease

https://www.hopkinsvasculitis.org/types-vasculitis/behcets-disease/



Bejel

https://en.wikipedia.org/wiki/Nonvenereal_endemic_syphilis

https://rarediseases.org/rare-diseases/bejel/

https://www.merckmanuals.com/home/infections/bacterial-infections-spirochetes/bejel,-yaws,-and-pinta

https://wwwnc.cdc.gov/eid/article/25/8/18-1690_article

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162659/

https://emedicine.medscape.com/article/230403-overview

https://emedicine.medscape.com/article/230403-overview


Bell’s Palsy

https://en.wikipedia.org/wiki/Bell%27s_palsy

https://www.mayoclinic.org/diseases-conditions/bells-palsy/symptoms-causes/syc-20370028

https://www.webmd.com/brain/understanding-bells-palsy-basics

https://www.healthline.com/health/bells-palsy

https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Bells-Palsy-Fact-Sheet

https://emedicine.medscape.com/article/1146903-overview

https://www.medicalnewstoday.com/articles/158863.php

https://www.nhs.uk/conditions/bells-palsy/

www.columbianeurology.org/neurology/staywell/document.php?id=33907



Benign Essential Blepharospasm

https://ghr.nlm.nih.gov/condition/benign-essential-blepharospasm

https://www.ninds.nih.gov/disorders/all-disorders/benign-essential-blepharospasm-information-page

https://rarediseases.org/rare-diseases/benign-essential-blepharospasm/

https://eyewiki.aao.org/Blepharospasm

https://emedicine.medscape.com/article/1212176-overview

https://en.wikipedia.org/wiki/Blepharospasm

https://www.webmd.com/eye-health/qa/what-causes-benign-essential-blepharospasm


Benign Paroxysmal Positional Vertigo


https://en.wikipedia.org/wiki/Benign_paroxysmal_positional_vertigo

https://www.mayoclinic.org/diseases-conditions/vertigo/symptoms-causes/syc-20370055

https://www.medicalnewstoday.com/articles/326157.php

https://vestibular.org/understanding-vestibular-disorders/types-vestibular-disorders/benign-paroxysmal-positional-vertigo

https://www.healthline.com/health/benign-positional-vertigo

Bernard-Soulier Syndrome

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046265/

https://www.hemophilia.ca/files/Bernard%20Soulier%20Syndrome.pdf

https://emedicine.medscape.com/article/954877-overview

https://www.archivesofpathology.org/doi/pdf/10.1043/1543-2165(2007)131%5B1834:BSAIPD%5D2.0.CO%3B2

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-46

https://www.nature.com/articles/hgv201730

https://en.wikipedia.org/wiki/Bernard–Soulier_syndrome

Berylliosisis

https://en.wikipedia.org/wiki/Berylliosis

https://rarediseases.org/rare-diseases/berylliosis

https://vestibular.org/understanding-vestibular-disorders/types-vestibular-disorders/benign-paroxysmal-positional-vertigo

https://emedicine.medscape.com/article/296759-overview

https://www.ncbi.nlm.nih.gov/books/NBK470364/

https://my.clevelandclinic.org/health/diseases/13807-beryllium-disease

https://www.winchesterhospital.org/health-library/article?id=22480

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=133

https://radiopaedia.org/articles/chronic-beryllium-lung-disease-1

/

Best Vitelliform Macular Dystrophy

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1243

https://rarediseases.org/rare-diseases/best-vitelliform-macular-dystrophy

https://www.ncbi.nlm.nih.gov/books/NBK1167/

https://eyewiki.aao.org/Best_Disease_and_Bestrophinopathies

https://eyewiki.aao.org/Best_Disease_and_Bestrophinopathies

https://emedicine.medscape.com/article/1227128-overview

https://webeye.ophth.uiowa.edu/eyeforum/cases/case11.htm

https://journalretinavitreous.biomedcentral.com/articles/10.1186/s40942-019-0156-0


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Sinonimos
Trisomia 21
Mongolismo






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