A síndrome KID/HID (Ceratite, Ictiose e Surdez, com aspecto de pele que lembra espinhos ou ouriços) é uma doença congênita rara (presente desde o nascimento) que afeta o ectoderma, um tipo de tecido que forma, entre outras coisas, a pele e os ouvidos. Ela se manifesta por: ceratite vascularizante (inflamação da córnea, a parte transparente do olho, com crescimento de vasos sanguíneos no local), lesões de pele hiperceratóticas (áreas ásperas e grossas na pele) e perda de audição.
Introdução
O que você precisa saber de cara
A síndrome queratite-ichiose-surdez (KID) é caracterizada por problemas oculares, anomalias cutâneas e perda auditiva.
Pessoas com a síndrome KID geralmente apresentam ceratite, que é inflamação da superfície frontal do olho (a córnea). A ceratite pode causar dor, aumento da sensibilidade à luz (fotofobia), crescimento anormal de vasos sanguíneos sobre a córnea (neovascularização) e cicatrização. Com o tempo, as pessoas afetadas experimentam perda de visão nítida (acuidade visual reduzida); em casos graves a ceratite pode levar à cegueira.
A maioria das pessoas com a síndrome KID tem pele espessa e dura nas palmas das mãos e nas solas dos pés (queratodermia palmoplantar). As pessoas afetadas também apresentam manchas espessas e avermelhadas na pele (eritroqueratodermia) que são secas e escamosas (ichiose). Essas manchas secas podem aparecer em qualquer parte do corpo, embora afetem mais comumente o pescoço, a região da virilha e as axilas. Quebras na pele frequentemente ocorrem e podem levar a infecções. Em casos graves, essas infecções podem ser potencialmente mortais, especialmente na infância. Aproximadamente 12 por cento das pessoas com a síndrome KID desenvolvem um tipo de câncer de pele chamado carcinoma de células escamosas, que também pode afetar as membranas mucosas, como o revestimento da boca.
A perda parcial de cabelo é uma característica comum da síndrome KID e frequentemente afeta as sobrancelhas e os cílios. As pessoas afetadas também podem ter unhas pequenas e anormalmente formadas.
A perda auditiva nessa condição costuma ser profunda, mas ocasionalmente pode ser menos grave.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoA síndrome KID/HID (Ceratite, Ictiose e Surdez, com aspecto de pele que lembra espinhos ou ouriços) é uma doença congênita rara (presente desde o nascimento) que afeta o ectoderma, um tipo de tecido que forma, entre outras coisas, a pele e os ouvidos. Ela se manifesta por: ceratite vascularizante (inflamação da córnea, a parte transparente do olho, com crescimento de vasos sanguíneos no local), lesões de pele hiperceratóticas (áreas ásperas e grossas na pele) e perda de audição.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 33 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 97 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
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.
Deafness, autosomal recessive, 1A
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Keratitis-ichthyosis-deafness syndrome, autosomal recessive
An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients.
Ectodermal dysplasia 2, Clouston type
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases.
Variantes genéticas (ClinVar)
573 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
8 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 — Síndrome KID
Selecione um estado ou use sua localização para ver resultados.
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Successful Use of Adalimumab for Dissecting Cellulitis in a Pediatric Patient With Keratitis-Ichthyosis-Deafness (KID) Syndrome.
Dissecting cellulitis of the scalp (DCS) is a chronic inflammatory condition characterized by painful, draining nodules and progressive, scarring alopecia. It is often refractory to treatment, and there are currently no FDA-approved therapies. We present a case of a 15-year-old boy with keratitis-ichthyosis-deafness (KID) syndrome and DCS who experienced significant clinical response to treatment with adalimumab after failing multiple courses of oral antimicrobials, surgical interventions, intralesional corticosteroids, and topical therapies. Treatment with adalimumab led to reduction in drainage and pain and visible hair regrowth, highlighting its therapeutic potential in refractory, pediatric DCS including in the setting of syndromic skin disease.
Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis-Ichthyosis-Deafness (KID) Syndrome With Topical Mefenamic Acid.
Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic condition typically presenting at birth with ichthyosiform erythroderma and bilateral hearing loss and later progressing to diffuse keratodermatous plaques with scaling. The condition is associated with mutations in the GJB2 gene, which lead to aberrant activation of connexin hemichannels in keratinocytes. While no targeted treatment currently exists, a previously published in vivo study demonstrated that flufenamic acid (FFA), a nonspecific connexin inhibitor, reduces epidermal pathology in transgenic mouse models expressing the lethal GJB2 mutation. Herein, we report the case of a 5-year-old boy with KID syndrome presenting with painful, persistent scalp lesions, which responded remarkably well to topical mefenamic acid, offering a potential novel therapy for managing this challenging condition.
An infant of KID syndrome along with Dandy-Walker malformation (DWM).
Novel homozygous pathogenic AP1B1 variant in autosomal recessive keratitis-ichthyosis-deafness syndrome treated with acitretin.
We report a female in her early childhood with autosomal recessive keratitis-ichthyosis-deafness (KID) syndrome, presenting with congenital erythroderma, sensorineural deafness and developmental delays. Genetic analysis revealed a novel homozygous pathogenic variant in the AP1B1 gene. Initiation of acitretin therapy led to significant dermatologic improvement without adverse effects so far. This case underscores the rarity of autosomal recessive KID syndrome and highlights acitretin's potential as a therapeutic option.
Virulence genes of pathogenic and clinical treatment in floppy kid syndrome.
Floppy kid syndrome (FKS) is a metabolic disorder disease in newborn goats caused by intestinal dysbiosis. In this study, pathogens were isolated from the intestinal contents of FKS-affected goats (8 Escherichia coli isolates and 2 Staphylococcus aureus isoates), and virulence gene detection showed that Escherichia coli predominantly expressed HlyD (62.5 %) and K88 (37.5 %), with 37.5 % of isolates co-expressing HlyD/K88; all Staphylococcus aureus isolates carried the nuc, sea, sed, and FnbA. Antibiotic susceptibility testing revealed that amikacin exhibited the highest sensitivity against both pathogens, with sensitivity rates of 87.5 % in Escherichia coli and 100 % in Staphylococcus aureus. By combining virulence gene detection and antimicrobial susceptibility tests, a comprehensive treatment regimen (amikacin + sodium bicarbonate + glucose) was designed, and clinical trial indicated that the 3-day cure rate in the treatment group reached 100 % (24/24), significantly higher than 14.3 % (2/14) in the control group. This study revealed a synergistic pathogenic mechanism between Escherichia coli HlyD/K88 and Staphylococcus aureus enterotoxins, confirming that an amikacin-based combined treatment regimen can effectively alleviate FKS symptoms, thereby providing a theoretical basis for precision medication in FKS.
Publicações recentes
Macrophage Extracellular Vesicles: Therapeutic Strategies for Corneal Fibrosis in Rare Diseases.
Successful Use of Adalimumab for Dissecting Cellulitis in a Pediatric Patient With Keratitis-Ichthyosis-Deafness (KID) Syndrome.
Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient.
Novel homozygous pathogenic AP1B1 variant in autosomal recessive keratitis-ichthyosis-deafness syndrome treated with acitretin.
An infant of KID syndrome along with Dandy-Walker malformation (DWM).
📖 Revisão📚 EuropePMC126 artigos no totalmostrando 94
Successful Use of Adalimumab for Dissecting Cellulitis in a Pediatric Patient With Keratitis-Ichthyosis-Deafness (KID) Syndrome.
Pediatric dermatologyCase Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient.
Journal of clinical medicineNovel homozygous pathogenic AP1B1 variant in autosomal recessive keratitis-ichthyosis-deafness syndrome treated with acitretin.
BMJ case reportsAn infant of KID syndrome along with Dandy-Walker malformation (DWM).
JAAD case reportsExpanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad.
MedicineCranial osteomyelitis in a patient with KID syndrome: Importance of thorough investigation in chronic wounds.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGCochlear implantation in patients with keratitis-ichthyosis-deafness syndrome: A systematic review.
International journal of pediatric otorhinolaryngologyHypodontia in a child with keratitis-ichthyosis-deafness (KID) syndrome: a case report.
Journal of medical case reportsKID syndrome: Laser-assisted daylight photodynamic therapy in the management of recalcitrant non-melanoma skin cancer.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGGoat-derived Lactobacillus amylovorus improved floppy kid syndrome via regulating gut microflora.
BMC veterinary researchTreatment of Epidermal Pathology in a Pediatric Patient With Keratitis-Ichthyosis-Deafness (KID) Syndrome With Topical Mefenamic Acid.
Pediatric dermatologyOphthalmologic management in KID syndrome: Long-term clinical experience.
Archivos de la Sociedad Espanola de OftalmologiaKeratitis, Ichthyosis, and Deafness Syndrome with Endocarditis and Myelitis: A Rare Case Report.
Case reports in dermatologyGenotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.
American journal of medical genetics. Part AAssessing Hemichannel and Gap Junctional Channel Activities in HaCaT Keratinocyte Cells.
Methods in molecular biology (Clifton, N.J.)Virulence genes of pathogenic and clinical treatment in floppy kid syndrome.
Research in veterinary scienceResearch in etiology of Floppy Kid Syndrome.
Frontiers in veterinary scienceCochlear Implant Challenges in Children with Ichthyosis: A Systematic Review.
GenesTwo cases of therapeutic scleral lenses for KID syndrome.
American journal of ophthalmology case reportsSuspect dyskeratotic neoformations in a 7-year-old child with keratitis-ichthyosis-deafness syndrome: diagnostic, surgical and wound care management.
Dermatology reportsDental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature.
Pediatric dermatologyConnexin Hemichannel Inhibition and Human Genodermatoses.
The Journal of investigative dermatologyHyperkeratotic Nodule on the Knee in a Patient With KID Syndrome.
CutisUse of Systemic Mycophenolate Mofetil Therapy in Ocular Surface Inflammatory Pathologies at the Initiative and Responsibility of the Ophthalmologist.
Middle East African journal of ophthalmologyEmergence of multiple revertant keratinocyte clones in a patient with KID syndrome.
Journal of the European Academy of Dermatology and Venereology : JEADVOcular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
Ophthalmic geneticsOtological problems in ichthyosis: A literature review.
International journal of pediatric otorhinolaryngologyOral Nodular Chronic Hyperplastic Candidiasis of the Tongue: A Case Report.
CureusKeratitis-ichthyosis-deafness syndrome and hidradenitis suppurativa.
JAAD case reportsKeratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 Gene in Two Serbian Adult Patients.
Balkan journal of medical genetics : BJMGAntibody gene transfer treatment drastically improves epidermal pathology in a keratitis ichthyosis deafness syndrome model using male mice.
EBioMedicineExpression of KID syndromic mutation Cx26S17F produces hyperactive hemichannels in supporting cells of the organ of Corti.
Frontiers in cell and developmental biologyKeratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.
American journal of medical genetics. Part AKID Syndrome: A Rare Congenital Ichthyosiform Disorder.
Indian dermatology online journalThe Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome.
Annals of dermatologyConformational changes and CO2-induced channel gating in connexin26.
Structure (London, England : 1993)Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome.
Scientific reportsParental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.
The Journal of dermatologyGenome Sequences of Two Pseudomonas aeruginosa Isolates with Defects in Type III Secretion System Gene Expression from a Chronic Ankle Wound Infection.
Microbiology spectrumKID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr).
International journal of dermatologyKID Syndrome and Hidradenitis Suppurativa: A Rare Association Responding to Surgical Treatment.
Skin appendage disordersInherited ichthyosis and fungal infection: an update on pathogenesis and treatment strategies.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDGPalmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.
Molecular genetics & genomic medicineNovel Variant c.148G>T of GJB2 Gene in a 5-Year-Old Child with KID Syndrome.
Indian dermatology online journalKeratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.
Dermatologic therapyProgressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome.
Case reports in orthopedicsMulitmodal Corneal Imaging of Genetically Confirmed Keratitis-Ichthyosis-Deafness Syndrome.
CorneaClinical, etiopathogenic, and therapeutic aspects of KID syndrome.
Dermatologic therapyKID Syndrome: A Rare Genodermatosis.
Indian dermatology online journalVerruciform xanthoma in recessive dystrophic epidermolysis bullosa and keratitis-ichthyosis-deafness syndrome: Report of two cases and a review of the literature.
Pediatric dermatologyAllele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes.
The Journal of investigative dermatologyA Rare Case of KID Syndrome: Erratum.
Advances in skin & wound careCx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro.
Royal Society open scienceA Rare Case of KID Syndrome: The Use of Hydrosurgery and Strategies for Antiseptic Wound Care.
Advances in skin & wound care[Screening for ocular involvement in deaf children].
The Pan African medical journalOral manifestations of KID syndrome: rare clinical case.
StomatologiiaAntenatal Findings of Keratitis-Ichthyosis-Deafness Syndrome.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC[Recurrent corneal ulcers as presenting sign of KID syndrome in a 68-year-old man].
Journal francais d'ophtalmologieKeratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg.
Acta dermato-venereologicaA Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
International journal of dermatologyThe connexin26 human mutation N14K disrupts cytosolic intersubunit interactions and promotes channel opening.
The Journal of general physiologyOcular Surface Stem Cell Transplantation for Treatment of Keratitis-Ichthyosis-Deafness Syndrome.
CorneaExome sequencing in a Chinese family reveals TTC9 mutation associated with keratitis-ichthyosis-deafness (KID) syndrome.
European journal of dermatology : EJDMore than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations.
Journal of the American Academy of DermatologyCross-sectional survey on disease severity in Japanese patients with harlequin ichthyosis/ichthyosis: Syndromic forms and quality-of-life analysis in a subgroup.
Journal of dermatological scienceRoles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome.
Scientific reportsSuccessfully Improving Visual Acuity in Keratitis-Ichthyosis-Deafness Syndrome Utilizing Gas-Permeable Lenses: A Case Report.
Eye & contact lensTwo Cases of Chronic Candidiasis in Keratitis-Ichthyosis-Deafness Syndrome.
The American Journal of dermatopathologyThe syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels.
The Journal of general physiologyPorokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature.
Anais brasileiros de dermatologiaVisual impairment reversal with oral acitretin therapy in keratitis-ichthyosis-deafness (KID) syndrome.
JAAD case reportsCochlear Implantation in Patients with Keratitis-Ichthyosis-Deafness Syndrome: A Report of Two Cases.
Case reports in otolaryngologySevere Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia.
Cornea[Mutation analysis for a pedigree affected with keratitis-ichthyosis-deafness syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsKeratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection.
The Journal of dermatologyInfectious keratitis in a patient with KID syndrome.
Enfermedades infecciosas y microbiologia clinica (English ed.)Systemic allergic contact dermatitis caused by methyl aminolaevulinate in a patient with keratosis-ichthyosis-deafness syndrome.
Contact dermatitisRevertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
Human molecular geneticsVegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome.
Pediatric dermatologyAltered CO2 sensitivity of connexin26 mutant hemichannels in vitro.
Physiological reportsComparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu.
PeerJDiminution of Langerhans cells in keratitis, ichthyosis and deafness (KID) syndrome patient with recalcitrant cutaneous candidiasis.
Journal of the European Academy of Dermatology and Venereology : JEADVSuccessful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with Keratitis-Ichthyosis-Deafness syndrome: a case report.
Dermatology online journalConnexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.
BMC medical geneticsInherited ichthyosis: Syndromic forms.
The Journal of dermatologyKeratoprosthesis in pediatric keratitis-icthyosiform-deafness syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusAltered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations.
BMC cell biologyPhenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.
International journal of pediatric otorhinolaryngologyFrom Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.
The Journal of investigative dermatologyConnexin hemichannels influence genetically determined inflammatory and hyperproliferative skin diseases.
Pharmacological researchAltered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F.
FEBS lettersOral squamous cell carcinoma in a patient with keratitis-ichthyosis-deafness syndrome: a rare case.
Oral surgery, oral medicine, oral pathology and oral radiologyKeratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.
The Journal of investigative dermatologyPhenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.
Journal of applied geneticsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Síndrome KID 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
A sigla KID refere-se às palavras em inglês Keratitis (ceratite), Ichthyosis (ictiose) e Deafness (surdez). Essas três características resumem as principais áreas afetadas pela condição: a córnea dos olhos, a pele e a audição.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
7 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.). Síndrome KID. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-kid
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome KID
📋 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
