Anemia congênita aregenerativa e frequentemente macrocítica com eritroblastopenia.
Introdução
O que você precisa saber de cara
A anemia de Diamond-Blackfan é um distúrbio que afeta principalmente a medula óssea. Pessoas com essa condição frequentemente também apresentam anomalias físicas que afetam várias partes do corpo.
A principal função da medula óssea é produzir novas células sanguíneas. Na anemia de Diamond-Blackfan, a medula óssea funciona de forma inadequada e deixa de produzir quantidade suficiente de glóbulos vermelhos, que transportam oxigênio para os tecidos do corpo. A escassez resultante de glóbulos vermelhos (anemia) geralmente se torna aparente durante o primeiro ano de vida. Os sintomas da anemia incluem fadiga, fraqueza e uma aparência anormalmente pálida (palidez).
Pessoas com anemia de Diamond-Blackfan têm risco aumentado de várias complicações graves relacionadas à sua medula óssea disfuncional. Especificamente, elas têm uma chance maior que a média de desenvolver síndrome mielodisplásica (MDS), que é um distúrbio no qual as células sanguíneas imaturas não se desenvolvem normalmente. Indivíduos com anemia de Diamond-Blackfan também têm risco aumentado de desenvolver um câncer da medula óssea conhecido como leucemia mieloide aguda (LMA), um tipo de câncer ósseo chamado osteossarcoma e outros cânceres.
Aproximadamente metade dos indivíduos com anemia de Diamond-Blackfan apresentam anomalias físicas. Eles podem ter um tamanho de cabeça incomumente pequeno (microcefalia) e uma linha capilar frontal baixa, juntamente com características faciais distintas, como olhos afastados (hipertelorismo); pálpebras caídas (ptose); uma ponte do nariz larga e plana; orelhas pequenas e baixas; e um queixo inferior pequeno (micrognatia). Os indivíduos afetados também podem ter uma abertura no palato (fenda palatina) com ou sem fissura no lábio superior (fenda labial). Eles podem ter um pescoço curto e webado; escápulas menores e mais altas que o usual; e anomalias nas mãos, sendo mais comum polegares malformados ou ausentes. Cerca de um terço dos indivíduos afetados apresentam crescimento lento que leva a baixa estatura.
Outras características da anemia de Diamond-Blackfan podem incluir problemas oculares, como opacificação da lente dos olhos (catarata), aumento da pressão intraocular (glaucoma) ou olhos que não se alinham na mesma direção (estrabismo). Os indivíduos afetados também podem apresentar anomalias renais; defeitos estruturais do coração; e, nos homens, a abertura da uretra na parte inferior do pênis (hipospadia).
A gravidade da anemia de Diamond-Blackfan pode variar, mesmo dentro da mesma família. Cada vez mais, indivíduos com anemia de Diamond-Blackfan “não clássica” têm sido identificados. Essa forma do distúrbio tipicamente apresenta sintomas menos graves. Por exemplo, alguns indivíduos afetados têm anemia leve que começa mais tarde na infância ou na idade adulta, enquanto outros apresentam algumas das características físicas, mas sem problemas na medula óssea.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoAnemia congênita aregenerativa e frequentemente macrocítica com eritroblastopenia.
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Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 55 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 179 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
26 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Curadoria gene-doença
fontes oficiaisDiamond-Blackfan anemia 18
A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA18 inheritance is autosomal dominant.
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
An autosomal recessive, systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.
Diamond-Blackfan anemia 9
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 5
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 13
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 1
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 15, with mandibulofacial dysostosis
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 3
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 7
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
X-linked dyserythropoietic anemia and thrombocytopenia
Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes.
Diamond-Blackfan anemia 11
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 19
A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA19 inheritance is autosomal dominant.
Diamond-Blackfan anemia 12
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 21
An autosomal recessive form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA21 patients manifest bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability.
Diamond-Blackfan anemia 6
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 20
A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA20 inheritance is autosomal dominant.
Diamond-Blackfan anemia 4
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 16
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 8
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 10
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 17
An autosomal dominant form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Diamond-Blackfan anemia 14, with mandibulofacial dysostosis
An X-linked recessive form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
Medicamentos e terapias
Mecanismo: DNA polymerase (alpha/delta/epsilon) inhibitor
Mecanismo: Interleukin-2 receptor inhibitor
Mecanismo: Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor
Mecanismo: FK506-binding protein 1A inhibitor
Mecanismo: Granulocyte colony stimulating factor receptor agonist
Mecanismo: Dihydrofolate reductase inhibitor
Mecanismo: Inhibin beta A chain inhibitor
Mecanismo: Serotonin 2c (5-HT2c) receptor antagonist
Mecanismo: Glycine transporter 1 inhibitor
Variantes genéticas (ClinVar)
700 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2.154 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
35 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Anemia de Diamond-Blackfan
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Com ensaio aberto em 3 países. O ponto verde marca onde há vaga agora.
🟢 Recrutando agora
9 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
53 ensaios clínicos encontrados, 10 ativos.
Publicações mais relevantes
Mostrando amostra de 9 publicações de um total de 429
Congenital pure red cell anemia and idiopathic very early onset of severe colitis cured by allogeneic hematopoetic stem cell transplantation.
[Advances in bone marrow failure related ribosomopathies].
由机体核糖体合成或功能障碍所导致的一组疾病称为核糖体病，多数为遗传性罕见病。其中，以造血衰竭为主要表现的核糖体病主要包括先天性纯红细胞再生障碍性贫血（Diamond-Blackfan anemia，DBA）、舒-戴综合征（Shwachma-Diamond syndrome，SDS）以及部分先天性角化不良（congenital dyskeratosis，DC）。由于该类疾病发病率低，临床异质性大，我国医师对其认识不够充分，此类疾病常被误诊、漏诊。本文从发病机制、临床特点及诊疗手段的角度，对核糖体异常相关造血衰竭疾病进行综述。.
Single-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia.
Ribosome dysfunction underlies the pathogenesis of many cancers and heritable ribosomopathies. Here, we investigate how mutations in either ribosomal protein large (RPL) or ribosomal protein small (RPS) subunit genes selectively affect erythroid progenitor development and clinical phenotypes in Diamond-Blackfan anemia (DBA), a rare ribosomopathy with limited therapeutic options. Using single-cell assays of patient-derived bone marrow, we delineated two distinct cellular trajectories segregating with ribosomal protein genotypes. Almost complete loss of erythroid specification was observed in RPS-DBA. In contrast, we observed relative preservation of qualitatively abnormal erythroid progenitors and precursors in RPL-DBA. Although both DBA genotypes exhibited a proinflammatory bone marrow milieu, RPS-DBA was characterized by erythroid differentiation arrest, whereas RPL-DBA was characterized by preserved GATA1 expression and activity. Compensatory stress erythropoiesis in RPL-DBA exhibited disordered differentiation underpinned by an altered glucocorticoid molecular signature, including reduced ZFP36L2 expression, leading to milder anemia and improved corticosteroid response. This integrative analysis approach identified distinct pathways of erythroid failure and defined genotype-phenotype correlations in DBA. These findings may help facilitate therapeutic target discovery.
[Research Progress on Pathogenesis of Congenital Pure Red Cell Aplasia---Review].
Congenital pure red cell aplasia, also known as Diamond-Blackfan anemia (DBA), is a hereditary disease characterized by pure red cell aplasia and congenital malformation. Its main clinical features are anemia, dysplasia, and tumor susceptibility. Ribosomal protein (RP) gene mutation is the main pathogenesis of DBA. The most common type of gene mutation is RPS19 gene mutation. Heterozygous mutations in as many as 19 RP genes and other non-RP genes mutations have been identified in DBA. This review summarized briedfly the latest research advances in the pathogenesis of DBA. 先天性纯红细胞再生障碍性贫血发病机制的研究进展. 先天性纯红细胞再生障碍又名Diamond-Blackfan贫血（DBA），是以单纯红系再生障碍和先天性畸形为特征的遗传性疾病，以贫血、身体发育异常和肿瘤易感性为主要临床特征。核糖体蛋白质（RP）基因突变是DBA的主要发病机制，最常见的基因突变类型为RPS19基因突变，目前已在DBA患者中发现了19个RP基因的杂合突变及其他非RP基因的突变。本文对基因突变引起DBA的最新研究进展进行综述。.
Pearson syndrome in a child transplanted for Diamond-Blackfan anemia.
Pearson syndrome (PS), shares a number of overlapping features with Diamond-Blackfan anemia (DBA), including early onset of severe anemia, making differential diagnosis important. Differential diagnosis of DBA and PS is critical, since those with DBA may respond to treatment with steroids, may undergo remission, or may benefit from hematopoietic stem cell transplantation (HSCT). However, patients with PS have a different prognosis, with a very high risk of developing acidosis, metabolic problems, and pancreatic dysfunction, and a shorter life expectancy than those with DBA. Here we present a patient who underwent HSCT for DBA but was subsequently diagnosed with PS after developing some complications. El síndrome de Pearson (SP) comparte varias características con la anemia de Diamond-Blackfan (ADB), incluida la anemia grave de inicio temprano, por lo que es importante hacer un diagnóstico diferencial. El diagnóstico diferencial de la ADB y el SP es fundamental, ya que los pacientes con ADB podrían responder al tratamiento con corticoesteroides, presentar remisión o beneficiarse del trasplante de células madre hematopoyéticas (TCMH). Sin embargo, los pacientes con SP tienen un pronóstico diferente, con un riesgo muy elevado de acidosis, problemas metabólicos y disfunción pancreática, y una expectativa de vida menor en comparación con aquellos con ADB. En este artículo, presentamos el caso de un paciente sometido a TCMH para la ADB, pero que luego fue diagnosticado con SP tras desarrollar algunas complicaciones.
Publicações recentes
Post-Transplant Cyclophosphamide Allows Allogeneic Hematopoietic Stem-Cell Transplantation Across Donor Types for Nonmalignant Hematologic Diseases.
Umbilical cord blood transplantation in children with Diamond-Blackfan anemia.
RPS19 and RPL5 haploinsufficient models reveal divergent ribosomal subunit controls of fetal hematopoiesis.
Steroid Responsiveness and Clinical Outcomes in Diamond-Blackfan Anemia: Analysis From the Canadian Inherited Marrow Failure Registry.
Established and emerging non-cellular therapies in inherited bone marrow failure syndromes.
📚 EuropePMC540 artigos no totalmostrando 9
Congenital pure red cell anemia and idiopathic very early onset of severe colitis cured by allogeneic hematopoetic stem cell transplantation.
Pediatric blood & cancer[Advances in bone marrow failure related ribosomopathies].
Zhonghua er ke za zhi = Chinese journal of pediatrics[Research Progress on Pathogenesis of Congenital Pure Red Cell Aplasia---Review].
Zhongguo shi yan xue ye xue za zhiPearson syndrome in a child transplanted for Diamond-Blackfan anemia.
Archivos argentinos de pediatriaSingle-cell profiling of human bone marrow progenitors reveals mechanisms of failing erythropoiesis in Diamond-Blackfan anemia.
Science translational medicineHow Altered Ribosome Production Can Cause or Contribute to Human Disease: The Spectrum of Ribosomopathies.
CellsIntroduction to a review series on inherited anemias.
BloodConfounding in ex vivo models of Diamond-Blackfan anemia.
BloodDiamond-Blackfan anemia: death by heme toxicity?
European journal of haematologyAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Anemia de Diamond-Blackfan e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma anemia congênita aregenerativa e macrocítica rara, caracterizada pela falha da medula em produzir glóbulos vermelhos adequados (**eritroblastopenia**). Costuma se manifestar logo na infância ou no período neonatal com palidez e fadiga intensa.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Anemia de Diamond-Blackfan. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/anemia-de-diamond-blackfan
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Anemia de Diamond-Blackfan
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Reposicionamento
- fonte: Drug Repurposing Hub
- Ensaios clínicos
- fonte: ClinicalTrials.gov
