Orphanet : Diseases - Emergency guidelines

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Emergency guidelines are texts produced or selected by Orphanet. They are intended to guide the management of rare diseases requiring specific care in emergency situations.

ORPHA code	Name of the disease	Emergency guideline(s)	Language
ORPHA:598363	Multisystem inflammatory syndrome in children and adults MIS-C/A	1 emergency guideline(s) Maladie de Kawasaki Orphanet Urgences	french
ORPHA:93573	Thrombotic microangiopathy TMA	1 emergency guideline(s) Microangiopathies thrombotiques Orphanet Urgences	french
ORPHA:599480	Acquired hemophilia A Acquired factor VIII deficiency Acquired F8 deficiency AHA	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:599480	Acquired hemophilia A Acquired factor VIII deficiency Acquired F8 deficiency AHA	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:599480	Acquired hemophilia A Acquired factor VIII deficiency Acquired F8 deficiency AHA	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:599485	Acquired hemophilia B Acquired factor IX deficiency Acquired F9 deficiency AHB	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:599485	Acquired hemophilia B Acquired factor IX deficiency Acquired F9 deficiency AHB	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:599485	Acquired hemophilia B Acquired factor IX deficiency Acquired F9 deficiency AHB	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:93616	Hemoglobin H disease Alpha-thalassemia intermedia HbH disease	1 emergency guideline(s) Thalassémie Orphanet Urgences	french
ORPHA:93616	Hemoglobin H disease Alpha-thalassemia intermedia HbH disease	1 emergency guideline(s) Talasemia Orphanet Urgences	spanish
ORPHA:93672	Juvenile dermatomyositis Juvenile DM	1 emergency guideline(s) Dermatomyosite juvénile et dermatomyosite de l'adulte Orphanet Urgences	french
ORPHA:93672	Juvenile dermatomyositis Juvenile DM	1 emergency guideline(s) Dermatomiositis juvenil y dermatomiositis del adulto Orphanet Urgences	spanish
ORPHA:93583	Congenital thrombotic thrombocytopenic purpura cTTP Congenital ADAMTS-13 deficiency Congenital TTP Familial TTP Upshaw-Schulman syndrome	1 emergency guideline(s) Microangiopathies thrombotiques Orphanet Urgences	french
ORPHA:93585	Immune-mediated thrombotic thrombocytopenic purpura Acquired TTP Autoimmune thrombotic thrombocytopenic purpura Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies Acquired thrombotic thrombocytopenic purpura iTTP aTTP	1 emergency guideline(s) Microangiopathies thrombotiques Orphanet Urgences	french
ORPHA:99147	Acquired von Willebrand syndrome Acquired von Willebrand disease	1 emergency guideline(s) Maladie de von Willebrand Orphanet Urgences	french
ORPHA:99749	Kostmann syndrome Infantile agranulocytosis Severe congenital neutropenia type 3	1 emergency guideline(s) Neutropénie constitutionnelle sévère Orphanet Urgences	french
ORPHA:99749	Kostmann syndrome Infantile agranulocytosis Severe congenital neutropenia type 3	1 emergency guideline(s) Schwere konstitutionelle Neutropenie Orphanet Urgences	german
ORPHA:99749	Kostmann syndrome Infantile agranulocytosis Severe congenital neutropenia type 3	1 emergency guideline(s) Neutropenia constitucional grave Orphanet Urgences	spanish
ORPHA:99749	Kostmann syndrome Infantile agranulocytosis Severe congenital neutropenia type 3	1 emergency guideline(s) Neutropenia costituzionale grave Orphanet Urgences	italian
ORPHA:99739	Rare familial disorder with hypertrophic cardiomyopathy Rare familial disorder with hypertrophic obstructive cardiomyopathy Rare familial disorder with hypertrophic subaortic stenosis	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:98818	Landau-Kleffner syndrome Acquired epileptic aphasia LKS	1 emergency guideline(s) Épilepsie avec pointes-ondes continues du sommeil (EPOCS) Orphanet Urgences	french
ORPHA:98818	Landau-Kleffner syndrome Acquired epileptic aphasia LKS	1 emergency guideline(s) Epilessia con punte e onde continue durante il sonno Orphanet Urgences	italian
ORPHA:98851	Mast cell leukemia	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:98848	Indolent systemic mastocytosis	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:98850	Aggressive systemic mastocytosis	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm SM-AHNMD Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease SM-AHN	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:98879	Hemophilia B Congenital F9 deficiency Christmas disease Congenital factor IX deficiency	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:98879	Hemophilia B Congenital F9 deficiency Christmas disease Congenital factor IX deficiency	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:98879	Hemophilia B Congenital F9 deficiency Christmas disease Congenital factor IX deficiency	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:98878	Hemophilia A Congenital Factor VIII deficiency Congenital F8 deficiency Congenital FVIII deficiency	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:98878	Hemophilia A Congenital Factor VIII deficiency Congenital F8 deficiency Congenital FVIII deficiency	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:98878	Hemophilia A Congenital Factor VIII deficiency Congenital F8 deficiency Congenital FVIII deficiency	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:98896	Duchenne muscular dystrophy DMD Severe dystrophinopathy, Duchenne type	1 emergency guideline(s) Dystrophie musculaire de Duchenne Orphanet Urgences	french
ORPHA:98896	Duchenne muscular dystrophy DMD Severe dystrophinopathy, Duchenne type	1 emergency guideline(s) Dystrofia miesniowa Duchenne'a Orphanet Urgences	polish
ORPHA:98896	Duchenne muscular dystrophy DMD Severe dystrophinopathy, Duchenne type	1 emergency guideline(s) Duchenne-Muskeldystrophie Orphanet Urgences	german
ORPHA:98896	Duchenne muscular dystrophy DMD Severe dystrophinopathy, Duchenne type	1 emergency guideline(s) Duchenne muscular dystrophy Orphanet Urgences	english
ORPHA:98896	Duchenne muscular dystrophy DMD Severe dystrophinopathy, Duchenne type	1 emergency guideline(s) Distrofia muscular de Duchenne Orphanet Urgences	spanish
ORPHA:98896	Duchenne muscular dystrophy DMD Severe dystrophinopathy, Duchenne type	1 emergency guideline(s) Miopatia di Duchenne Orphanet Urgences	italian
ORPHA:98907	Neutral lipid storage disease with ichthyosis NLSDI Dorfman-Chanarin syndrome Chanarin-Dorfman syndrome CDS DCS	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:98793	Prader-Willi syndrome due to paternal 15q11q13 deletion	1 emergency guideline(s) Syndrome de Prader-Willi Orphanet Urgences	french
ORPHA:98793	Prader-Willi syndrome due to paternal 15q11q13 deletion	1 emergency guideline(s) Síndrome de Prader-Willi Orphanet Urgences	spanish
ORPHA:98793	Prader-Willi syndrome due to paternal 15q11q13 deletion	1 emergency guideline(s) Sindrome di Prader-Willi Orphanet Urgences	italian
ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 UPD(15)mat	1 emergency guideline(s) Syndrome de Prader-Willi Orphanet Urgences	french
ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 UPD(15)mat	1 emergency guideline(s) Síndrome de Prader-Willi Orphanet Urgences	spanish
ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 UPD(15)mat	1 emergency guideline(s) Sindrome di Prader-Willi Orphanet Urgences	italian
ORPHA:573163	Pheochromocytoma-paraganglioma	1 emergency guideline(s) Phéochromocytomes et paragangliomes fonctionnels Orphanet Urgences	french
ORPHA:573163	Pheochromocytoma-paraganglioma	1 emergency guideline(s) Feocromocitomas y paragangliomas funcionantes Orphanet Urgences	spanish
ORPHA:98375	Autoimmune hemolytic anemia AHA AIHA	1 emergency guideline(s) Anémie hémolytique auto-immune Orphanet Urgences	french
ORPHA:98375	Autoimmune hemolytic anemia AHA AIHA	1 emergency guideline(s) Anemia hemolítica autoinmune Orphanet Urgences	spanish
ORPHA:696942	Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency Childhood-onset CVID phenotype due to ARHGEF1 deficiency Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:696945	X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency X-linked CVID phenotype due to SH3KBP1 deficiency X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:696931	Common variable immunodeficiency phenotype due to TWEAK deficiency CVID phenotype due to TWEAK deficiency Common variable immunodeficiency phenotype due to TNF-related weak inducer of apoptosis	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:696925	Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency Adult-onset CVID phenotype due to BAFF-receptor deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:696907	Common variable immunodeficiency phenotype due to homozygous TACI deficiency CVID phenotype due to homozygous TACI deficiency Common variable immunodeficiency phenotype due to homozygous TNFRSF13B deficiency Common variable immunodeficiency phenotype due to homozygous transmembrane activator and CAML interactor deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:696904	Common variable immunodeficiency phenotype due to IRF2BP2 deficiency CVID phenotype due to IRF2BP2 deficiency Common variable immunodeficiency phenotype due to IFN regulatory factor-2 binding protein 2 deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:696894	Common variable immunodeficiency phenotype due to CD21 deficiency Common variable immunodeficiency phenotype due to cluster of differentiation 21 deficiency CVID phenotype due to CD21 deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:696881	Common variable immunodeficiency phenotype due to CD19/CD81 deficiency CVID phenotype due to CD19/CD81 deficiency CD19 deficiency Common variable immunodeficiency phenotype due to cluster of differentiation 19/cluster or differentiation 81 deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:696874	NFKB1-related immune dysregulation Nuclear factor kappa B subunit 1-related immune dysregulation	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:696870	Common variable immunodeficiency phenotype due to germinal monogenic mutation Monogenic CVID phenotype Monogenic common variable immunodeficiency phenotype CVID phenotype due to germinal monogenic mutation	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:696863	Common variable immunodeficiency phenotype due to somatic mutations CVID phenotype due to somatic mutations	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:696857	Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations CVID phenotype due to germinal digenic/polygenic mutations	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:696851	Common variable immunodeficiency and related disorders CVID and related disorders	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:697417	Common variable immunodeficiency phenotype due to SEC61A1 deficiency CVID due to SEC61A1 deficiency Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:101995	Periodic fever syndrome	1 emergency guideline(s) Fièvre méditerranéenne familiale Orphanet Urgences	french
ORPHA:101977	Immunodeficiency predominantly affecting antibody production	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:101960	Genetic chronic primary adrenal insufficiency	1 emergency guideline(s) Insuffisance surrénale aiguë (ISA) Orphanet Urgences	french
ORPHA:101960	Genetic chronic primary adrenal insufficiency	1 emergency guideline(s) Insufficienza surrenalica Orphanet Urgences	italian
ORPHA:101963	Acquired chronic primary adrenal insufficiency	1 emergency guideline(s) Insuffisance surrénale aiguë (ISA) Orphanet Urgences	french
ORPHA:101963	Acquired chronic primary adrenal insufficiency	1 emergency guideline(s) Insufficienza surrenalica Orphanet Urgences	italian
ORPHA:101956	Polyendocrinopathy	1 emergency guideline(s) Polyendocrinopathie auto-immune de type 1 Orphanet Urgences	french
ORPHA:101956	Polyendocrinopathy	1 emergency guideline(s) Autoimmunologiczny zespol niedoczynnosci wielogruczolowej typu 1 Orphanet Urgences	polish
ORPHA:101956	Polyendocrinopathy	1 emergency guideline(s) Autoimmun-Polyendokrinopathie Typ 1 Orphanet Urgences	german
ORPHA:101956	Polyendocrinopathy	1 emergency guideline(s) Type 1 autoimmune polyendocrinopathy Orphanet Urgences	english
ORPHA:101956	Polyendocrinopathy	1 emergency guideline(s) Poliendocrinopatía autoinmune de tipo 1 Orphanet Urgences	spanish
ORPHA:101956	Polyendocrinopathy	1 emergency guideline(s) Poliendocrinopatia autoimune de tipo 1 Orphanet Urgences	portuguese
ORPHA:101959	Chronic primary adrenal insufficiency CPAI Chronic adrenocorticoid insufficiency	1 emergency guideline(s) Insuffisance surrénale aiguë (ISA) Orphanet Urgences	french
ORPHA:101959	Chronic primary adrenal insufficiency CPAI Chronic adrenocorticoid insufficiency	1 emergency guideline(s) Insufficienza surrenalica Orphanet Urgences	italian
ORPHA:101958	Primary adrenal insufficiency	1 emergency guideline(s) Insuffisance surrénale aiguë (ISA) Orphanet Urgences	french
ORPHA:101958	Primary adrenal insufficiency	1 emergency guideline(s) Insufficienza surrenalica Orphanet Urgences	italian
ORPHA:101330	Porphyria cutanea tarda PCT	1 emergency guideline(s) Porphyries cutanées tardives Orphanet Urgences	french
ORPHA:101330	Porphyria cutanea tarda PCT	1 emergency guideline(s) Porfirie skorne Orphanet Urgences	polish
ORPHA:101330	Porphyria cutanea tarda PCT	1 emergency guideline(s) Cutaneous porphyrias Orphanet Urgences	english
ORPHA:101330	Porphyria cutanea tarda PCT	1 emergency guideline(s) Porfirias cutáneas Orphanet Urgences	spanish
ORPHA:101330	Porphyria cutanea tarda PCT	1 emergency guideline(s) Porfirie cutanee Orphanet Urgences	italian
ORPHA:101330	Porphyria cutanea tarda PCT	1 emergency guideline(s) Porfiria cutâneas Orphanet Urgences	portuguese
ORPHA:101089	Hyper-IgM syndrome type 2 AID deficiency Activation-induced cytidine deaminase deficiency HIGM2	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:101092	Hyper-IgM syndrome type 5 HIGM5 Hyper-IgM syndrome due to UNG deficiency Hyper-IgM syndrome due to uracil N-glycosylase	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:101091	Hyper-IgM syndrome type 4 HIGM4	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:101016	Romano-Ward syndrome Romano-Ward long QT syndrome	1 emergency guideline(s) Syndrome du QT long Orphanet Urgences	french
ORPHA:101016	Romano-Ward syndrome Romano-Ward long QT syndrome	1 emergency guideline(s) Síndrome de QT largo familiar Orphanet Urgences	spanish
ORPHA:101016	Romano-Ward syndrome Romano-Ward long QT syndrome	2 emergency guideline(s) Sindrome del QT lungo Orphanet Urgences Sindrome familiare del QT lungo Orphanet Urgences	italian
ORPHA:101016	Romano-Ward syndrome Romano-Ward long QT syndrome	1 emergency guideline(s) Síndrome do QT longo familiar Orphanet Urgences	portuguese
ORPHA:100924	Porphyria due to ALA dehydratase deficiency ALAD porphyria Porphyria due to ALAD deficiency Porphyria due to delta-aminolevulinate dehydratase deficiency Porphyria of Doss	1 emergency guideline(s) Porphyrie hépatique aiguë Orphanet Urgences	french
ORPHA:100924	Porphyria due to ALA dehydratase deficiency ALAD porphyria Porphyria due to ALAD deficiency Porphyria due to delta-aminolevulinate dehydratase deficiency Porphyria of Doss	1 emergency guideline(s) Ostre porfirie watrobowe, objawy nerwowo-trzewne Orphanet Urgences	polish
ORPHA:100924	Porphyria due to ALA dehydratase deficiency ALAD porphyria Porphyria due to ALAD deficiency Porphyria due to delta-aminolevulinate dehydratase deficiency Porphyria of Doss	1 emergency guideline(s) Acute hepatic porphyria neuro-visceral crisis Orphanet Urgences	english
ORPHA:100924	Porphyria due to ALA dehydratase deficiency ALAD porphyria Porphyria due to ALAD deficiency Porphyria due to delta-aminolevulinate dehydratase deficiency Porphyria of Doss	1 emergency guideline(s) Porfirias hepáticas agudas Orphanet Urgences	spanish
ORPHA:100924	Porphyria due to ALA dehydratase deficiency ALAD porphyria Porphyria due to ALAD deficiency Porphyria due to delta-aminolevulinate dehydratase deficiency Porphyria of Doss	2 emergency guideline(s) Porfiria epatica acuta Orphanet Urgences Porfirie acute epatiche Orphanet Urgences	italian
ORPHA:100976	Bathing suit ichthyosis BSI	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:100054	F12-related hereditary angioedema with normal C1Inh Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema HAE 3 HAE-III Hereditary angioneurotic edema type 3 Inherited estrogen-associated angioedema Hereditary angioedema type 3 F12-related HAE with normal C1 inhibitor	1 emergency guideline(s) Angioedème bradykinique Orphanet Urgences	french
ORPHA:100054	F12-related hereditary angioedema with normal C1Inh Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema HAE 3 HAE-III Hereditary angioneurotic edema type 3 Inherited estrogen-associated angioedema Hereditary angioedema type 3 F12-related HAE with normal C1 inhibitor	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:100054	F12-related hereditary angioedema with normal C1Inh Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema HAE 3 HAE-III Hereditary angioneurotic edema type 3 Inherited estrogen-associated angioedema Hereditary angioedema type 3 F12-related HAE with normal C1 inhibitor	1 emergency guideline(s) Nicht-histaminvermitteltes Angioödem Orphanet Urgences	german
ORPHA:100054	F12-related hereditary angioedema with normal C1Inh Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema HAE 3 HAE-III Hereditary angioneurotic edema type 3 Inherited estrogen-associated angioedema Hereditary angioedema type 3 F12-related HAE with normal C1 inhibitor	1 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:100054	F12-related hereditary angioedema with normal C1Inh Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema HAE 3 HAE-III Hereditary angioneurotic edema type 3 Inherited estrogen-associated angioedema Hereditary angioedema type 3 F12-related HAE with normal C1 inhibitor	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:100054	F12-related hereditary angioedema with normal C1Inh Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema HAE 3 HAE-III Hereditary angioneurotic edema type 3 Inherited estrogen-associated angioedema Hereditary angioedema type 3 F12-related HAE with normal C1 inhibitor	1 emergency guideline(s) Angioedema non istaminico Orphanet Urgences	italian
ORPHA:100054	F12-related hereditary angioedema with normal C1Inh Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema HAE 3 HAE-III Hereditary angioneurotic edema type 3 Inherited estrogen-associated angioedema Hereditary angioedema type 3 F12-related HAE with normal C1 inhibitor	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:100051	Hereditary angioedema type 2 HAE 2 HAE-II Hereditary angioneurotic edema type 2	1 emergency guideline(s) Angioedème bradykinique Orphanet Urgences	french
ORPHA:100051	Hereditary angioedema type 2 HAE 2 HAE-II Hereditary angioneurotic edema type 2	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:100051	Hereditary angioedema type 2 HAE 2 HAE-II Hereditary angioneurotic edema type 2	1 emergency guideline(s) Nicht-histaminvermitteltes Angioödem Orphanet Urgences	german
ORPHA:100051	Hereditary angioedema type 2 HAE 2 HAE-II Hereditary angioneurotic edema type 2	1 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:100051	Hereditary angioedema type 2 HAE 2 HAE-II Hereditary angioneurotic edema type 2	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:100051	Hereditary angioedema type 2 HAE 2 HAE-II Hereditary angioneurotic edema type 2	1 emergency guideline(s) Angioedema non istaminico Orphanet Urgences	italian
ORPHA:100051	Hereditary angioedema type 2 HAE 2 HAE-II Hereditary angioneurotic edema type 2	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema ACEI-related acquired angioedema Acquired angioedema with normal C1INH Acquired angioedema with normal C1 inhibitor ACE inhibitor-related acquired angioedema RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema RAE Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema	1 emergency guideline(s) Angioedème bradykinique Orphanet Urgences	french
ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema ACEI-related acquired angioedema Acquired angioedema with normal C1INH Acquired angioedema with normal C1 inhibitor ACE inhibitor-related acquired angioedema RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema RAE Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema ACEI-related acquired angioedema Acquired angioedema with normal C1INH Acquired angioedema with normal C1 inhibitor ACE inhibitor-related acquired angioedema RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema RAE Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema	1 emergency guideline(s) Nicht-histaminvermitteltes Angioödem Orphanet Urgences	german
ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema ACEI-related acquired angioedema Acquired angioedema with normal C1INH Acquired angioedema with normal C1 inhibitor ACE inhibitor-related acquired angioedema RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema RAE Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema	1 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema ACEI-related acquired angioedema Acquired angioedema with normal C1INH Acquired angioedema with normal C1 inhibitor ACE inhibitor-related acquired angioedema RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema RAE Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema ACEI-related acquired angioedema Acquired angioedema with normal C1INH Acquired angioedema with normal C1 inhibitor ACE inhibitor-related acquired angioedema RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema RAE Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema	1 emergency guideline(s) Angioedema non istaminico Orphanet Urgences	italian
ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema ACEI-related acquired angioedema Acquired angioedema with normal C1INH Acquired angioedema with normal C1 inhibitor ACE inhibitor-related acquired angioedema RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema RAE Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:100056	Acquired angioedema type 1 Acquired angioneurotic edema type 1	1 emergency guideline(s) Angioedème bradykinique Orphanet Urgences	french
ORPHA:100056	Acquired angioedema type 1 Acquired angioneurotic edema type 1	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:100056	Acquired angioedema type 1 Acquired angioneurotic edema type 1	1 emergency guideline(s) Nicht-histaminvermitteltes Angioödem Orphanet Urgences	german
ORPHA:100056	Acquired angioedema type 1 Acquired angioneurotic edema type 1	2 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:100056	Acquired angioedema type 1 Acquired angioneurotic edema type 1	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:100056	Acquired angioedema type 1 Acquired angioneurotic edema type 1	1 emergency guideline(s) Angioedema non istaminico Orphanet Urgences	italian
ORPHA:100056	Acquired angioedema type 1 Acquired angioneurotic edema type 1	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:100055	Acquired angioedema type 2 AAE 2 AAE II Acquired angioneurotic edema type 2	1 emergency guideline(s) Angioedème bradykinique Orphanet Urgences	french
ORPHA:100055	Acquired angioedema type 2 AAE 2 AAE II Acquired angioneurotic edema type 2	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:100055	Acquired angioedema type 2 AAE 2 AAE II Acquired angioneurotic edema type 2	1 emergency guideline(s) Nicht-histaminvermitteltes Angioödem Orphanet Urgences	german
ORPHA:100055	Acquired angioedema type 2 AAE 2 AAE II Acquired angioneurotic edema type 2	1 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:100055	Acquired angioedema type 2 AAE 2 AAE II Acquired angioneurotic edema type 2	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:100055	Acquired angioedema type 2 AAE 2 AAE II Acquired angioneurotic edema type 2	1 emergency guideline(s) Angioedema non istaminico Orphanet Urgences	italian
ORPHA:100055	Acquired angioedema type 2 AAE 2 AAE II Acquired angioneurotic edema type 2	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:693627	Agammaglobulinemia-skin involvement-failure to thrive syndrome Hypogammaglobulinemia-skin involvement-failure to thrive syndrome Syndromic agammaglobulinemia due to ZIP7 deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:693681	Activated PI3K-delta syndrome 2 APDS type 2 APDS2 Activated phosphoinositide 3-kinase delta syndrome type 2 Activated p110delta syndrome, type 2 PASLI-R1 Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutations, type 2	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:693661	Activated PI3K-delta syndrome 1 Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1 Activated p110delta syndrome, type 1 APDS1 APDS type 1 Activated phosphoinositide 3-kinase delta syndrome-1 PASLI-CD	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:693647	Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome Syndromic agammaglobulinemia due to FNIP1 deficiency Syndromic hypogammaglobulinemia due to FNIP1 deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:100050	Hereditary angioedema type 1 HAE 1 HAE-I Hereditary angioneurotic edema type 1	1 emergency guideline(s) Angioedème bradykinique Orphanet Urgences	french
ORPHA:100050	Hereditary angioedema type 1 HAE 1 HAE-I Hereditary angioneurotic edema type 1	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:100050	Hereditary angioedema type 1 HAE 1 HAE-I Hereditary angioneurotic edema type 1	1 emergency guideline(s) Nicht-histaminvermitteltes Angioödem Orphanet Urgences	german
ORPHA:100050	Hereditary angioedema type 1 HAE 1 HAE-I Hereditary angioneurotic edema type 1	1 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:100050	Hereditary angioedema type 1 HAE 1 HAE-I Hereditary angioneurotic edema type 1	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:100050	Hereditary angioedema type 1 HAE 1 HAE-I Hereditary angioneurotic edema type 1	1 emergency guideline(s) Angioedema non istaminico Orphanet Urgences	italian
ORPHA:100050	Hereditary angioedema type 1 HAE 1 HAE-I Hereditary angioneurotic edema type 1	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:166078	Von Willebrand disease type 1	1 emergency guideline(s) Maladie de von Willebrand Orphanet Urgences	french
ORPHA:166084	Von Willebrand disease type 2A	1 emergency guideline(s) Maladie de von Willebrand Orphanet Urgences	french
ORPHA:166081	Von Willebrand disease type 2	1 emergency guideline(s) Maladie de von Willebrand Orphanet Urgences	french
ORPHA:166090	Von Willebrand disease type 2M	1 emergency guideline(s) Maladie de von Willebrand Orphanet Urgences	french
ORPHA:365	Glycogen storage disease due to acid maltase deficiency Alpha-1,4-glucosidase acid deficiency GSD due to acid maltase deficiency GSD type 2 Glycogen storage disease type 2 Glycogenosis due to acid maltase deficiency Glycogenosis type 2 Pompe disease GSD type II Glycogen storage disease type II Glycogenosis type II	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:166087	Von Willebrand disease type 2B	1 emergency guideline(s) Maladie de von Willebrand Orphanet Urgences	french
ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency GSDIII Glycogen storage disease type 3 Glycogenosis due to glycogen debranching enzyme deficiency Glycogenosis type 3 Limit dextrinosis Amylo-1,6-glucosidase deficiency Cori disease Cori-Forbes disease Forbes disease GDE deficiency GSD due to glycogen debranching enzyme deficiency GSD type 3 Glycogen storage disease type III Glycogenosis type III	3 emergency guideline(s) Protocole d'urgence - Hypoglycémie récidivante chez patient non connu G2M Protocole d'urgence - Hypoglycémie aux urgences chez un patient non connu G2M Protocole d'urgence - présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) G2M	french
ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency GSDIII Glycogen storage disease type 3 Glycogenosis due to glycogen debranching enzyme deficiency Glycogenosis type 3 Limit dextrinosis Amylo-1,6-glucosidase deficiency Cori disease Cori-Forbes disease Forbes disease GDE deficiency GSD due to glycogen debranching enzyme deficiency GSD type 3 Glycogen storage disease type III Glycogenosis type III	7 emergency guideline(s) Rhabdomyolysis protocol for A&E (new patient) G2M Recurring severe rhabdomyolysis with no diagnosis G2M Glycogen storage disease type 3 G2M Recurrent undiagnosed hypoglycaemia G2M Hypoglycaemia in A&E (no diagnosis known) G2M Recurring mild rhabdomyolysis with no diagnosis G2M Glycogen debranching enzyme deficiency Brit Inher Metab Dis Group	english
ORPHA:166093	Von Willebrand disease type 2N	1 emergency guideline(s) Maladie de von Willebrand Orphanet Urgences	french
ORPHA:166096	Von Willebrand disease type 3	1 emergency guideline(s) Maladie de von Willebrand Orphanet Urgences	french
ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency GSD due to liver glycogen phosphorylase deficiency Glycogen storage disease type 6 Glycogenosis due to liver glycogen phosphorylase deficiency GSD type 6 Hepatic glycogen phosphorylase deficiency Hepatic phosphorylase deficiency Hers disease Liver glycogen phosphorylase deficiency Glycogenosis type 6 GSD type VI Glycogen storage disease type VI Glycogenosis type VI	3 emergency guideline(s) Glycogénoses types 0 - 6 - 9 G2M Hypoglycémie aux urgences chez un patient non connu G2M Hypoglycémie récidivante chez patient non connu G2M	french
ORPHA:447	Paroxysmal nocturnal hemoglobinuria Marchiafava-Micheli disease PNH	1 emergency guideline(s) Hémoglobinurie Paroxystique Nocturne Orphanet Urgences	french
ORPHA:447	Paroxysmal nocturnal hemoglobinuria Marchiafava-Micheli disease PNH	1 emergency guideline(s) Napadowa nocna hemoglobinuria Orphanet Urgences	polish
ORPHA:447	Paroxysmal nocturnal hemoglobinuria Marchiafava-Micheli disease PNH	1 emergency guideline(s) Paroxysmale nächtliche Hämoglobinurie Orphanet Urgences	german
ORPHA:447	Paroxysmal nocturnal hemoglobinuria Marchiafava-Micheli disease PNH	1 emergency guideline(s) Paroxysmal Nocturnal Haemoglobinuria Orphanet Urgences	english
ORPHA:447	Paroxysmal nocturnal hemoglobinuria Marchiafava-Micheli disease PNH	1 emergency guideline(s) Hemoglobinuria paroxística nocturna Orphanet Urgences	spanish
ORPHA:447	Paroxysmal nocturnal hemoglobinuria Marchiafava-Micheli disease PNH	1 emergency guideline(s) Emoglobinuria parossistica notturna Orphanet Urgences	italian
ORPHA:447	Paroxysmal nocturnal hemoglobinuria Marchiafava-Micheli disease PNH	1 emergency guideline(s) Hemoglobinúria paroxística noturna Orphanet Urgences	portuguese
ORPHA:812	Sialidosis type 1 Cherry-red spot-myoclonus syndrome Lipomucopolysaccharidosis Normomorphic sialidosis	1 emergency guideline(s) Epilepsies myocloniques progressives (EMP) Orphanet Urgences	french
ORPHA:796	Sandhoff disease	1 emergency guideline(s) Gangliosidoses à GM2 Orphanet Urgences	french
ORPHA:801	Scleroderma	1 emergency guideline(s) Sclérodermie systémique Orphanet Urgences	french
ORPHA:801	Scleroderma	1 emergency guideline(s) Systemische Sklerodermie Orphanet Urgences	german
ORPHA:801	Scleroderma	1 emergency guideline(s) Esclerodermia sistémica Orphanet Urgences	spanish
ORPHA:801	Scleroderma	1 emergency guideline(s) Sclerodermia sistemica Orphanet Urgences	italian
ORPHA:461	Recessive X-linked ichthyosis RXLI Steroid sulfatase deficiency X-linked ichthyosis XLI	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:95	Friedreich ataxia FA FRDA	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:848	Beta-thalassemia	1 emergency guideline(s) Thalassémie Orphanet Urgences	french
ORPHA:848	Beta-thalassemia	1 emergency guideline(s) Talasemia Orphanet Urgences	spanish
ORPHA:586	Cystic fibrosis CF Mucoviscidosis	1 emergency guideline(s) Mucoviscidose Orphanet Urgences	french
ORPHA:586	Cystic fibrosis CF Mucoviscidosis	1 emergency guideline(s) Mukoviszidose Orphanet Urgences	german
ORPHA:586	Cystic fibrosis CF Mucoviscidosis	1 emergency guideline(s) Mucoviscidosis Orphanet Urgences	spanish
ORPHA:586	Cystic fibrosis CF Mucoviscidosis	1 emergency guideline(s) Fibrosi cistica Orphanet Urgences	italian
ORPHA:586	Cystic fibrosis CF Mucoviscidosis	1 emergency guideline(s) Fibrose quística Orphanet Urgences	portuguese
ORPHA:551	MERRF Fukuhara syndrome Myoclonus epilepsy associated with ragged-red fibres	1 emergency guideline(s) Epilepsies myocloniques progressives (EMP) Orphanet Urgences	french
ORPHA:273	Steinert myotonic dystrophy Myotonic dystrophy type 1 Steinert disease	1 emergency guideline(s) Dystrophie myotonique de Steinert Orphanet Urgences	french
ORPHA:273	Steinert myotonic dystrophy Myotonic dystrophy type 1 Steinert disease	1 emergency guideline(s) Dystrofia miotoniczna typu 1 Orphanet Urgences	polish
ORPHA:273	Steinert myotonic dystrophy Myotonic dystrophy type 1 Steinert disease	1 emergency guideline(s) Myotone Dystrophie Steinert Orphanet Urgences	german
ORPHA:273	Steinert myotonic dystrophy Myotonic dystrophy type 1 Steinert disease	1 emergency guideline(s) Steinert myotonic dystrophy Orphanet Urgences	english
ORPHA:273	Steinert myotonic dystrophy Myotonic dystrophy type 1 Steinert disease	1 emergency guideline(s) Distrofia miotónica de Steinert Orphanet Urgences	spanish
ORPHA:273	Steinert myotonic dystrophy Myotonic dystrophy type 1 Steinert disease	1 emergency guideline(s) Distrofia miotonica di Steinert Orphanet Urgences	italian
ORPHA:324	Fabry disease Alpha-galactosidase A deficiency Anderson-Fabry disease FD	1 emergency guideline(s) Maladie de Fabry Orphanet Urgences	french
ORPHA:324	Fabry disease Alpha-galactosidase A deficiency Anderson-Fabry disease FD	1 emergency guideline(s) Malattia di Fabry Orphanet Urgences	italian
ORPHA:778	Rett syndrome	1 emergency guideline(s) Syndrome de Rett Orphanet Urgences	french
ORPHA:778	Rett syndrome	1 emergency guideline(s) Síndrome de Rett Orphanet Urgences	spanish
ORPHA:164823	Rare acquired aplastic anemia	1 emergency guideline(s) Aplasie médullaire Orphanet Urgences	french
ORPHA:558	Marfan syndrome MFS	1 emergency guideline(s) Syndrome de Marfan et syndromes apparentés Orphanet Urgences	french
ORPHA:558	Marfan syndrome MFS	1 emergency guideline(s) Zespol Marfana Orphanet Urgences	polish
ORPHA:558	Marfan syndrome MFS	1 emergency guideline(s) Marfan-Syndrom Orphanet Urgences	german
ORPHA:558	Marfan syndrome MFS	1 emergency guideline(s) Marfan Syndrome Orphanet Urgences	english
ORPHA:558	Marfan syndrome MFS	1 emergency guideline(s) Síndrome de Marfan Orphanet Urgences	spanish
ORPHA:558	Marfan syndrome MFS	1 emergency guideline(s) Marfan (Sindrome di Marfan) Orphanet Urgences	italian
ORPHA:558	Marfan syndrome MFS	1 emergency guideline(s) Síndrome Marfan Orphanet Urgences	portuguese
ORPHA:803	Amyotrophic lateral sclerosis ALS Charcot disease Lou Gehrig disease	1 emergency guideline(s) Sclérose latérale amyotrophique Orphanet Urgences	french
ORPHA:803	Amyotrophic lateral sclerosis ALS Charcot disease Lou Gehrig disease	1 emergency guideline(s) Stwardnienie zanikowe boczne Orphanet Urgences	polish
ORPHA:803	Amyotrophic lateral sclerosis ALS Charcot disease Lou Gehrig disease	1 emergency guideline(s) Amyotrophe Lateralsklerose Orphanet Urgences	german
ORPHA:803	Amyotrophic lateral sclerosis ALS Charcot disease Lou Gehrig disease	1 emergency guideline(s) Amyotrophic lateral sclerosis Orphanet Urgences	english
ORPHA:803	Amyotrophic lateral sclerosis ALS Charcot disease Lou Gehrig disease	1 emergency guideline(s) Esclerosis lateral amiotrófica Orphanet Urgences	spanish
ORPHA:803	Amyotrophic lateral sclerosis ALS Charcot disease Lou Gehrig disease	1 emergency guideline(s) Sclerosi laterale amiotrofica Orphanet Urgences	italian
ORPHA:803	Amyotrophic lateral sclerosis ALS Charcot disease Lou Gehrig disease	1 emergency guideline(s) Esclerose lateral amiotrófica Orphanet Urgences	portuguese
ORPHA:100	Ataxia-telangiectasia Louis-Bar syndrome	1 emergency guideline(s) Ataxie-télangiectasie (A-T) Orphanet Urgences	french
ORPHA:100	Ataxia-telangiectasia Louis-Bar syndrome	1 emergency guideline(s) Ataxia-telangiectasia (A-T) Orphanet Urgences	spanish
ORPHA:399	Huntington disease Huntington chorea	1 emergency guideline(s) Maladie de Huntington Orphanet Urgences	french
ORPHA:399	Huntington disease Huntington chorea	1 emergency guideline(s) Huntington-Krankheit Orphanet Urgences	german
ORPHA:399	Huntington disease Huntington chorea	1 emergency guideline(s) Enfermedad de Huntington Orphanet Urgences	spanish
ORPHA:399	Huntington disease Huntington chorea	1 emergency guideline(s) Malattia di Huntington Orphanet Urgences	italian
ORPHA:501	Lafora disease EPM2 PME type 2 Progressive myoclonic epilepsy type 2 Progressive myoclonus epilepsy type 2	1 emergency guideline(s) Epilepsies myocloniques progressives (EMP) Orphanet Urgences	french
ORPHA:232	Sickle cell anemia Homozygous hemoglobin S Homozygous sickle cell anemia SS	1 emergency guideline(s) Drépanocytose Orphanet Urgences	french
ORPHA:908	Fragile X syndrome FRAXA syndrome FXS FraX syndrome Martin-Bell syndrome	1 emergency guideline(s) Syndrome de lX fragile Orphanet Urgences	french
ORPHA:908	Fragile X syndrome FRAXA syndrome FXS FraX syndrome Martin-Bell syndrome	1 emergency guideline(s) Síndrome X frágil Orphanet Urgences	spanish
ORPHA:739	Prader-Willi syndrome Prader-Labhart-Willi syndrome	1 emergency guideline(s) Syndrome de Prader-Willi Orphanet Urgences	french
ORPHA:739	Prader-Willi syndrome Prader-Labhart-Willi syndrome	1 emergency guideline(s) Síndrome de Prader-Willi Orphanet Urgences	spanish
ORPHA:739	Prader-Willi syndrome Prader-Labhart-Willi syndrome	1 emergency guideline(s) Sindrome di Prader-Willi Orphanet Urgences	italian
ORPHA:47	X-linked agammaglobulinemia BTK-deficiency Bruton type agammaglobulinemia	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:664	Ornithine transcarbamylase deficiency OCT deficiency OTC deficiency Ornithine carbamoyltransferase deficiency	1 emergency guideline(s) Déficits du cycle de lurée Orphanet Urgences	french
ORPHA:664	Ornithine transcarbamylase deficiency OCT deficiency OTC deficiency Ornithine carbamoyltransferase deficiency	1 emergency guideline(s) CPS or OTC deficiency Brit Inher Metab Dis Group	english
ORPHA:394	Homocystinuria due to cystathionine beta-synthase deficiency Cystathionine beta-synthase-deficient homocystinuria Cystathionine beta-synthase deficiency Homocystinuria due to CBS deficiency CBS-deficient HCU Classical homocystinuria	3 emergency guideline(s) Homocystinurie-prise en charge grossesse G2M Homocystinurie G2M Homocystinurie classique Orphanet Urgences	french
ORPHA:394	Homocystinuria due to cystathionine beta-synthase deficiency Cystathionine beta-synthase-deficient homocystinuria Cystathionine beta-synthase deficiency Homocystinuria due to CBS deficiency CBS-deficient HCU Classical homocystinuria	1 emergency guideline(s) Homocystynuria klasyczna Orphanet Urgences	polish
ORPHA:394	Homocystinuria due to cystathionine beta-synthase deficiency Cystathionine beta-synthase-deficient homocystinuria Cystathionine beta-synthase deficiency Homocystinuria due to CBS deficiency CBS-deficient HCU Classical homocystinuria	1 emergency guideline(s) Klassische Homocystinurie Orphanet Urgences	german
ORPHA:394	Homocystinuria due to cystathionine beta-synthase deficiency Cystathionine beta-synthase-deficient homocystinuria Cystathionine beta-synthase deficiency Homocystinuria due to CBS deficiency CBS-deficient HCU Classical homocystinuria	4 emergency guideline(s) Classic Homocystinuria Orphanet Urgences Recurring severe rhabdomyolysis with no diagnosis G2M Rhabdomyolysis protocol for A&E (new patient) G2M Recurring mild rhabdomyolysis with no diagnosis G2M	english
ORPHA:394	Homocystinuria due to cystathionine beta-synthase deficiency Cystathionine beta-synthase-deficient homocystinuria Cystathionine beta-synthase deficiency Homocystinuria due to CBS deficiency CBS-deficient HCU Classical homocystinuria	1 emergency guideline(s) Homosistinuria clásica Orphanet Urgences	spanish
ORPHA:394	Homocystinuria due to cystathionine beta-synthase deficiency Cystathionine beta-synthase-deficient homocystinuria Cystathionine beta-synthase deficiency Homocystinuria due to CBS deficiency CBS-deficient HCU Classical homocystinuria	1 emergency guideline(s) Omocistinuria classica Orphanet Urgences	italian
ORPHA:436	Hypophosphatasia HPP Phosphoethanolaminuria Rathbun disease	1 emergency guideline(s) Hypophosphatasie Orphanet Urgences	french
ORPHA:163708	Cryptogenic late-onset epileptic spasms Late-onset infantile spasms	1 emergency guideline(s) Syndrome de West Orphanet Urgences	french
ORPHA:636	Neurofibromatosis type 1 Nonmosaic neurofibromatosis type 1 Von Recklinghausen disease Nonmosaic NF1	1 emergency guideline(s) Neurofibromatose type 1 Orphanet Urgences	french
ORPHA:337	Fibrodysplasia ossificans progressiva FOP Myositis ossificans progressiva Stone man syndrome	1 emergency guideline(s) Fibrodysplasie ossifiante progressive (FOP) Orphanet Urgences	french
ORPHA:648	Noonan syndrome	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:60	Alpha-1-antitrypsin deficiency Alpha1-antitrypsin deficiency Alpha-1-proteinase inhibitor deficiency	1 emergency guideline(s) Déficit en alpha1-antitrypsine Orphanet Urgences	french
ORPHA:60	Alpha-1-antitrypsin deficiency Alpha1-antitrypsin deficiency Alpha-1-proteinase inhibitor deficiency	1 emergency guideline(s) Alpha-1-Antitrypsin-Mangel Orphanet Urgences	german
ORPHA:60	Alpha-1-antitrypsin deficiency Alpha1-antitrypsin deficiency Alpha-1-proteinase inhibitor deficiency	1 emergency guideline(s) Alpha-1 antitrypsin deficiency Orphanet Urgences	english
ORPHA:60	Alpha-1-antitrypsin deficiency Alpha1-antitrypsin deficiency Alpha-1-proteinase inhibitor deficiency	1 emergency guideline(s) Déficit de alfa-1 antitripsina Orphanet Urgences	spanish
ORPHA:60	Alpha-1-antitrypsin deficiency Alpha1-antitrypsin deficiency Alpha-1-proteinase inhibitor deficiency	1 emergency guideline(s) Deficit di alfa-1-antitripsina Orphanet Urgences	italian
ORPHA:681	Hypokalemic periodic paralysis Westphall disease	1 emergency guideline(s) Paralysie périodique hypokaliémique Orphanet Urgences	french
ORPHA:681	Hypokalemic periodic paralysis Westphall disease	1 emergency guideline(s) Parálisis periódica hipopotasémica Orphanet Urgences	spanish
ORPHA:681	Hypokalemic periodic paralysis Westphall disease	1 emergency guideline(s) Paralisi periodica ipokaliemica Orphanet Urgences	italian
ORPHA:774	Hereditary hemorrhagic telangiectasia HHT Rendu-Osler disease Rendu-Osler-Weber disease	1 emergency guideline(s) Télangiectasie hémorragique héréditaire Orphanet Urgences	french
ORPHA:205	Crigler-Najjar syndrome Bilirubin uridinediphosphate glucuronosyltransferase deficiency Bilirubin-UGT deficiency	1 emergency guideline(s) Syndrome de Crigler-Najjar Orphanet Urgences	french
ORPHA:205	Crigler-Najjar syndrome Bilirubin uridinediphosphate glucuronosyltransferase deficiency Bilirubin-UGT deficiency	1 emergency guideline(s) Sindrome di Crigler-Najjar, tipo 1 Orphanet Urgences	italian
ORPHA:169808	Mild hemophilia A Mild congenital factor VIII deficiency Mild congenital F8 deficiency	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:169808	Mild hemophilia A Mild congenital factor VIII deficiency Mild congenital F8 deficiency	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:169808	Mild hemophilia A Mild congenital factor VIII deficiency Mild congenital F8 deficiency	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:169802	Severe hemophilia A Severe congenital factor VIII deficiency Severe congenital F8 deficiency	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:169802	Severe hemophilia A Severe congenital factor VIII deficiency Severe congenital F8 deficiency	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:169802	Severe hemophilia A Severe congenital factor VIII deficiency Severe congenital F8 deficiency	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:169805	Moderate hemophilia A Moderate congenital factor VIII deficiency Moderate congenital F8 deficiency	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:169805	Moderate hemophilia A Moderate congenital factor VIII deficiency Moderate congenital F8 deficiency	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:169805	Moderate hemophilia A Moderate congenital factor VIII deficiency Moderate congenital F8 deficiency	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:562	McCune-Albright syndrome	1 emergency guideline(s) Syndrome McCune-Albright Orphanet Urgences	french
ORPHA:562	McCune-Albright syndrome	1 emergency guideline(s) Síndrome de McCune-Albright Orphanet Urgences	spanish
ORPHA:169443	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:313	Lamellar ichthyosis LI	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:169799	Mild hemophilia B Mild congenital factor IX deficiency Mild congenital F9 deficiency	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:169799	Mild hemophilia B Mild congenital factor IX deficiency Mild congenital F9 deficiency	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:169799	Mild hemophilia B Mild congenital factor IX deficiency Mild congenital F9 deficiency	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:169796	Moderate hemophilia B Moderate congenital F9 deficiency Moderate congenital factor IX deficiency	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:169796	Moderate hemophilia B Moderate congenital F9 deficiency Moderate congenital factor IX deficiency	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:169796	Moderate hemophilia B Moderate congenital F9 deficiency Moderate congenital factor IX deficiency	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:169793	Severe hemophilia B Severe congenital factor IX deficiency Severe congenital F9 deficiency	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:169793	Severe hemophilia B Severe congenital factor IX deficiency Severe congenital F9 deficiency	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:169793	Severe hemophilia B Severe congenital factor IX deficiency Severe congenital F9 deficiency	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:308	Progressive myoclonic epilepsy type 1 Unverricht-Lundborg disease EPM1 Progressive myoclonus epilepsy type 1 ULD	1 emergency guideline(s) Epilepsies myocloniques progressives (EMP) Orphanet Urgences	french
ORPHA:169110	Immunoglobulin heavy chain deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:168956	Hypereosinophilic syndrome HES	1 emergency guideline(s) Syndromes hyperéosinophiliques Orphanet Urgences	french
ORPHA:168940	Chronic eosinophilic leukemia	1 emergency guideline(s) Syndromes hyperéosinophiliques Orphanet Urgences	french
ORPHA:370	Glycogen storage disease due to phosphorylase kinase deficiency GSD due to phosphorylase kinase deficiency GSD type 9 GSD type IX Glycogen storage disease due to PhK deficiency Glycogen storage disease type 9 Glycogen storage disease type IX Glycogenosis due to phosphorylase kinase deficiency Glycogenosis type 9 Glycogenosis type IX Gycogenosis due to PhK deficiency	2 emergency guideline(s) Glycogénoses types 0 - 6 - 9 G2M Hypoglycémie aux urgences chez un patient non connu G2M	french
ORPHA:169139	Transient hypogammaglobulinemia of infancy	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:1006	Alopecia antibody deficiency Ipp-Gelfand syndrome	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:33	Isovaleric acidemia Isovaleric acid CoA dehydrogenase deficiency	1 emergency guideline(s) Acidurie isovalérique G2M	french
ORPHA:33	Isovaleric acidemia Isovaleric acid CoA dehydrogenase deficiency	4 emergency guideline(s) COMA and Inherited Metabolic Diseases G2M Isovaleric acidemia G2M Metabolic acidosis protocol (new patient) G2M Isovaleric acidemia Brit Inher Metab Dis Group	english
ORPHA:819	Smith-Magenis syndrome 17p11.2 microdeletion syndrome	1 emergency guideline(s) Syndrome de Smith-Magenis Orphanet Urgences	french
ORPHA:819	Smith-Magenis syndrome 17p11.2 microdeletion syndrome	1 emergency guideline(s) Sindrome di Smith-Magenis Orphanet Urgences	italian
ORPHA:124	Diamond-Blackfan anemia Diamond-Blackfan anemia syndrome Congenital PRCA Congenital pure red cell aplasia	1 emergency guideline(s) Anémie de Blackfan-Diamond Orphanet Urgences	french
ORPHA:124	Diamond-Blackfan anemia Diamond-Blackfan anemia syndrome Congenital PRCA Congenital pure red cell aplasia	1 emergency guideline(s) Anemia di Blackfan-Diamond Orphanet Urgences	italian
ORPHA:90	Argininemia Arginase 1 deficiency Arginase deficiency Hyperargininemia	1 emergency guideline(s) Déficits du cycle de lurée Orphanet Urgences	french
ORPHA:1775	Dyskeratosis congenita DC DKC Zinsser-Engman-Cole syndrome	1 emergency guideline(s) Aplasie médullaire Orphanet Urgences	french
ORPHA:765	Pyruvate dehydrogenase deficiency PDH PDHC Pyruvate dehydrogenase complex deficiency	2 emergency guideline(s) Coma et maladies héréditaires du métabolisme G2M Déficit en Pyruvate Déshydrogénase (PDH) G2M	french
ORPHA:408	Isolated glycerol kinase deficiency Hyperglycerolemia	1 emergency guideline(s) Ketotic hypoglycemia Brit Inher Metab Dis Group	english
ORPHA:147	Carbamoyl-phosphate synthetase 1 deficiency CPS1 deficiency CPS1D Carbamoyl-phosphate synthetase I deficiency Carbamoyl-phosphate synthetase deficiency	1 emergency guideline(s) Déficits du cycle de lurée Orphanet Urgences	french
ORPHA:147	Carbamoyl-phosphate synthetase 1 deficiency CPS1 deficiency CPS1D Carbamoyl-phosphate synthetase I deficiency Carbamoyl-phosphate synthetase deficiency	1 emergency guideline(s) CPS or OTC deficiency Brit Inher Metab Dis Group	english
ORPHA:23	Argininosuccinic aciduria ASA deficiency ASL deficiency Argininosuccinase deficiency Argininosuccinatelyase deficiency Argininosuccinic acid lyase deficiency	1 emergency guideline(s) Déficits du cycle de lurée Orphanet Urgences	french
ORPHA:23	Argininosuccinic aciduria ASA deficiency ASL deficiency Argininosuccinase deficiency Argininosuccinatelyase deficiency Argininosuccinic acid lyase deficiency	1 emergency guideline(s) Hyperammonemia due to citrullinemia or argininosuccinic aciduria Brit Inher Metab Dis Group	english
ORPHA:2135	Cutaneous mastocytosis-deafness-microtia syndrome Mastocytosis-short stature-hearing loss syndrome Cutaneous mastocytosis-hearing loss-microtia syndrome Mastocytosis-short stature-deafness syndrome	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:2140	Congenital diaphragmatic hernia CDH	1 emergency guideline(s) Hernie de coupole diaphragmatique Orphanet Urgences	french
ORPHA:167848	Rare cardiomyopathy	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:2785	Osteopetrosis with renal tubular acidosis Carbonic anhydrase 2 deficiency Guibaud-Vainsel syndrome Marble brain disease Mixed RTA Mixed renal tubular acidosis Renal tubular acidosis type 3	1 emergency guideline(s) Déficit en Anhydrase carbonique G2M	french
ORPHA:469	Hereditary fructose intolerance Hereditary fructose-1-phosphate aldolase deficiency Hereditary fructosemia	2 emergency guideline(s) Insuffisance hépatique néonatale G2M Intolérance Héréditaire au Fructose (Fructosémie) G2M	french
ORPHA:469	Hereditary fructose intolerance Hereditary fructose-1-phosphate aldolase deficiency Hereditary fructosemia	3 emergency guideline(s) Rhabdomyolysis protocol for A&E (new patient) G2M Fructosaemia (hereditary fructose intolerance) G2M Recurring severe rhabdomyolysis with no diagnosis G2M	english
ORPHA:477	KID syndrome KID/HID syndrome Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome Senter syndrome Ichthyosis hystrix Rheydt type Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:716	Phenylketonuria PKU	1 emergency guideline(s) Phénylcétonurie Orphanet Urgences	french
ORPHA:716	Phenylketonuria PKU	1 emergency guideline(s) Phenylketonuria G2M	english
ORPHA:716	Phenylketonuria PKU	1 emergency guideline(s) Fenilcetonuria Orphanet Urgences	spanish
ORPHA:84	Fanconi anemia Fanconi pancytopenia	1 emergency guideline(s) Anémie de Fanconi Orphanet Urgences	french
ORPHA:84	Fanconi anemia Fanconi pancytopenia	1 emergency guideline(s) Anemia de Fanconi Orphanet Urgences	spanish
ORPHA:3151	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:3173	Infantile spasms-broad thumbs syndrome Tsao-Ellingson syndrome	1 emergency guideline(s) Syndrome de West Orphanet Urgences	french
ORPHA:3205	Sturge-Weber syndrome Encephalofacial angiomatosis Encephalotrigeminal angiomatosis SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome	1 emergency guideline(s) Syndrome de Sturge-Weber Orphanet Urgences	french
ORPHA:3205	Sturge-Weber syndrome Encephalofacial angiomatosis Encephalotrigeminal angiomatosis SWS Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome	1 emergency guideline(s) Síndrome de Sturge-Weber Orphanet Urgences	spanish
ORPHA:3320	Thrombocytopenia-absent radius syndrome TAR syndrome	1 emergency guideline(s) Aplasie médullaire Orphanet Urgences	french
ORPHA:178389	Osteopetrosis-hypogammaglobulinemia syndrome Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia Autosomal recessive osteopetrosis type 7	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:348	Fructose-1,6-bisphosphatase deficiency FBPase deficiency Fructose-1,6-diphosphatase deficiency	3 emergency guideline(s) Hypoglycémie aux urgences chez un patient non connu G2M Hypoglycémie récidivante chez patient non connu G2M Déficit en fructose-1,6-diphosphatase (F16BP) G2M	french
ORPHA:348	Fructose-1,6-bisphosphatase deficiency FBPase deficiency Fructose-1,6-diphosphatase deficiency	4 emergency guideline(s) Hypoglycaemia in A&E (no diagnosis known) G2M Fructose 1,6-bisphosphatase deficiency G2M Recurrent undiagnosed hypoglycaemia G2M Fructose-1,6-biphosphatase deficiency Brit Inher Metab Dis Group	english
ORPHA:117	Behçet disease	1 emergency guideline(s) Maladie de Behçet Orphanet Urgences	french
ORPHA:221	Dermatomyositis Adult dermatomyositis	1 emergency guideline(s) Dermatomyosite juvénile et dermatomyosite de l'adulte Orphanet Urgences	french
ORPHA:221	Dermatomyositis Adult dermatomyositis	1 emergency guideline(s) Dermatomiositis juvenil y dermatomiositis del adulto Orphanet Urgences	spanish
ORPHA:177926	Bleeding disorder in hemophilia A carriers	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:177926	Bleeding disorder in hemophilia A carriers	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:177926	Bleeding disorder in hemophilia A carriers	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:177929	Bleeding disorder in hemophilia B carriers	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:177929	Bleeding disorder in hemophilia B carriers	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:177929	Bleeding disorder in hemophilia B carriers	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:666	Osteogenesis imperfecta Brittle bone disease Glass bone disease Lobstein disease OI	1 emergency guideline(s) Ostéogenèse imparfaite Orphanet Urgences	french
ORPHA:666	Osteogenesis imperfecta Brittle bone disease Glass bone disease Lobstein disease OI	1 emergency guideline(s) Wrodzona lamliwosc kosci Orphanet Urgences	polish
ORPHA:666	Osteogenesis imperfecta Brittle bone disease Glass bone disease Lobstein disease OI	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	german
ORPHA:666	Osteogenesis imperfecta Brittle bone disease Glass bone disease Lobstein disease OI	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	english
ORPHA:666	Osteogenesis imperfecta Brittle bone disease Glass bone disease Lobstein disease OI	1 emergency guideline(s) Osteogénesis imperfecta (OI) Orphanet Urgences	spanish
ORPHA:666	Osteogenesis imperfecta Brittle bone disease Glass bone disease Lobstein disease OI	1 emergency guideline(s) Osteogenesi imperfetta (OI) Orphanet Urgences	italian
ORPHA:666	Osteogenesis imperfecta Brittle bone disease Glass bone disease Lobstein disease OI	1 emergency guideline(s) Osteogénese Imperfeita Orphanet Urgences	portuguese
ORPHA:178029	Arginine vasopressin deficiency CDI Neurogenic diabetes insipidus	1 emergency guideline(s) Diabète insipide dorigine centrale Orphanet Urgences	french
ORPHA:178029	Arginine vasopressin deficiency CDI Neurogenic diabetes insipidus	1 emergency guideline(s) Diabetes insípida central Orphanet Urgences	spanish
ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	1 emergency guideline(s) Syndrome de Prader-Willi Orphanet Urgences	french
ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	1 emergency guideline(s) Síndrome de Prader-Willi Orphanet Urgences	spanish
ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	1 emergency guideline(s) Sindrome di Prader-Willi Orphanet Urgences	italian
ORPHA:423	Malignant hyperthermia of anesthesia Hyperthermia of anesthesia	2 emergency guideline(s) Rhabdomyolyse par mutation du gène RYR1 G2M Hyperthermie maligne de l'anesthésie Orphanet Urgences	french
ORPHA:423	Malignant hyperthermia of anesthesia Hyperthermia of anesthesia	1 emergency guideline(s) Hipertermia zlosliwa Orphanet Urgences	polish
ORPHA:423	Malignant hyperthermia of anesthesia Hyperthermia of anesthesia	2 emergency guideline(s) Severe rhabdomyolysis and malignant hyperthermia (RYR1 mutations and related genes) G2M Malignant hyperthermia Orphanet Urgences	english
ORPHA:423	Malignant hyperthermia of anesthesia Hyperthermia of anesthesia	1 emergency guideline(s) Hipertermia maligna Orphanet Urgences	spanish
ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	1 emergency guideline(s) Syndrome de Prader-Willi Orphanet Urgences	french
ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	1 emergency guideline(s) Síndrome de Prader-Willi Orphanet Urgences	spanish
ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	1 emergency guideline(s) Sindrome di Prader-Willi Orphanet Urgences	italian
ORPHA:418	Congenital adrenal hyperplasia CAH	1 emergency guideline(s) Insuffisance surrénale aiguë (ISA) Orphanet Urgences	french
ORPHA:418	Congenital adrenal hyperplasia CAH	1 emergency guideline(s) Insufficienza surrenalica Orphanet Urgences	italian
ORPHA:177907	Prader-Willi syndrome due to translocation	1 emergency guideline(s) Syndrome de Prader-Willi Orphanet Urgences	french
ORPHA:177907	Prader-Willi syndrome due to translocation	1 emergency guideline(s) Síndrome de Prader-Willi Orphanet Urgences	spanish
ORPHA:177907	Prader-Willi syndrome due to translocation	1 emergency guideline(s) Sindrome di Prader-Willi Orphanet Urgences	italian
ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	1 emergency guideline(s) Syndrome de Prader-Willi Orphanet Urgences	french
ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	1 emergency guideline(s) Síndrome de Prader-Willi Orphanet Urgences	spanish
ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	1 emergency guideline(s) Sindrome di Prader-Willi Orphanet Urgences	italian
ORPHA:140989	Primary angiitis of the central nervous system Isolated angiitis of the central nervous system PACNS PCNSV Primary central nervous system vasculitis Primary vasculitis of the central nervous system	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:2141	Diaphragmatic defect-limb deficiency-skull defect syndrome Froster-Huch syndrome	1 emergency guideline(s) Hernie de coupole diaphragmatique Orphanet Urgences	french
ORPHA:2143	Donnai-Barrow syndrome DBS/FOAR syndrome Diaphragmatic hernia-exomphalos-hypertelorism syndrome Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome FOAR syndrome Facio-oculo-acoustico-renal syndrome Holmes-Schepens syndrome Syndrome of ocular and facial anomalies, telecanthus and deafness Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome Syndrome of ocular and facial anomalies, telecanthus and hearing loss	1 emergency guideline(s) Hernie de coupole diaphragmatique Orphanet Urgences	french
ORPHA:2059	Fryns syndrome Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome	1 emergency guideline(s) Hernie de coupole diaphragmatique Orphanet Urgences	french
ORPHA:158687	Lethal acantholytic erosive disorder	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia EBS with pyloric atresia EBS-PA	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema EBS with circinate migratory erythema EBS-migr	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:158676	Localized dystrophic epidermolysis bullosa, nails only Localized DEB, nails only	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:158673	Localized dystrophic epidermolysis bullosa, acral form Localized DEB, acral form	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome McGrath syndrome	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:158778	Isolated bone marrow mastocytosis	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:158775	Smoldering systemic mastocytosis	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:247685	Odontohypophosphatasia	1 emergency guideline(s) Hypophosphatasie Orphanet Urgences	french
ORPHA:247623	Perinatal lethal hypophosphatasia Perinatal lethal phosphoethanolaminuria Perinatal lethal Rathbun disease	1 emergency guideline(s) Hypophosphatasie Orphanet Urgences	french
ORPHA:247638	Prenatal benign hypophosphatasia Prenatal benign phosphoethanolaminuria Prenatal benign Rathbun disease	1 emergency guideline(s) Hypophosphatasie Orphanet Urgences	french
ORPHA:247651	Infantile hypophosphatasia Infantile phosphoethanolaminuria Infantile Rathbun disease	1 emergency guideline(s) Hypophosphatasie Orphanet Urgences	french
ORPHA:247667	Childhood-onset hypophosphatasia Childhood-onset phosphoethanolaminuria Childhood-onset Rathbun disease	1 emergency guideline(s) Hypophosphatasie Orphanet Urgences	french
ORPHA:247676	Adult hypophosphatasia Adult Rathbun disease Adult phosphoethanolaminuria	1 emergency guideline(s) Hypophosphatasie Orphanet Urgences	french
ORPHA:247525	Citrullinemia type I ASS deficiency Argininosuccinate synthase deficiency Argininosuccinate synthetase deficiency Argininosuccinic acid synthase deficiency Argininosuccinic acid synthetase deficiency CTLN1 Citrullinemia type 1 Classic citrullinemia	1 emergency guideline(s) Déficits du cycle de lurée Orphanet Urgences	french
ORPHA:247525	Citrullinemia type I ASS deficiency Argininosuccinate synthase deficiency Argininosuccinate synthetase deficiency Argininosuccinic acid synthase deficiency Argininosuccinic acid synthetase deficiency CTLN1 Citrullinemia type 1 Classic citrullinemia	1 emergency guideline(s) Hyperammonemia due to citrullinemia or argininosuccinic aciduria Brit Inher Metab Dis Group	english
ORPHA:247546	Acute neonatal citrullinemia type I Early-onset citrullinemia type I Acute neonatal citrullinemia type 1 Early-onset citrullinemia type 1	1 emergency guideline(s) Déficits du cycle de lurée Orphanet Urgences	french
ORPHA:2325	Epidermolysis bullosa simplex with anodontia/hypodontia Kallin syndrome EBS with anodontia/hypodontia	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:247573	Late-onset citrullinemia type I Late-onset citrullinemia type 1	1 emergency guideline(s) Déficits du cycle de lurée Orphanet Urgences	french
ORPHA:247573	Late-onset citrullinemia type I Late-onset citrullinemia type 1	1 emergency guideline(s) Hyperammonemia due to citrullinemia or argininosuccinic aciduria Brit Inher Metab Dis Group	english
ORPHA:2407	Laryngo-onycho-cutaneous syndrome LOGIC syndrome Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome Shabbir syndrome LOC syndrome	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:248111	Juvenile Huntington disease JHD Juvenile Huntington chorea	1 emergency guideline(s) Maladie de Huntington Orphanet Urgences	french
ORPHA:248111	Juvenile Huntington disease JHD Juvenile Huntington chorea	1 emergency guideline(s) Huntington-Krankheit Orphanet Urgences	german
ORPHA:248111	Juvenile Huntington disease JHD Juvenile Huntington chorea	1 emergency guideline(s) Enfermedad de Huntington Orphanet Urgences	spanish
ORPHA:248111	Juvenile Huntington disease JHD Juvenile Huntington chorea	1 emergency guideline(s) Malattia di Huntington Orphanet Urgences	italian
ORPHA:244275	De novo thrombotic microangiopathy after kidney transplantation	1 emergency guideline(s) Microangiopathies thrombotiques Orphanet Urgences	french
ORPHA:312	Autosomal dominant epidermolytic ichthyosis BCIE Bullous congenital ichthyosiform erythroderma Bullous congenital ichthyosiform erythroderma of Brock Bullous ichthyosis EHK EI Epidermolytic hyperkeratosis Ichthyosis hystrix Brocq type	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:2238	Familial isolated hypoparathyroidism	1 emergency guideline(s) Hypoparathyroïdie isolée familiale Orphanet Urgences	french
ORPHA:2238	Familial isolated hypoparathyroidism	1 emergency guideline(s) Hipoparatiroidismo aislado familiar Orphanet Urgences	spanish
ORPHA:2269	Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Jagell-Holmgren-Hofer syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:455	Superficial epidermolytic ichthyosis Ichthyosis bullosa of Siemens SEI	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:2272	Ichthyosis-oral and digital anomalies syndrome Clayton Smith-Donnai syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:2274	Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Dykes-Marks-Harper syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome IFAP syndrome Ichthyosis follicularis-atrichia-photophobia syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:2271	Congenital ichthyosis-microcephalus-tetraplegia syndrome Congenital ichthyosis-microcephalus-quadriplegia syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:251370	Sickle cell S-D Punjab disease HbSD disease Hemoglobin S-D Punjab disease Sickle cell-hemoglobin D disease	1 emergency guideline(s) Drépanocytose Orphanet Urgences	french
ORPHA:251375	Sickle cell S-E disease HbSE disease Hemoglobin S-E disease Sickle cell-hemoglobin E disease	1 emergency guideline(s) Drépanocytose Orphanet Urgences	french
ORPHA:251359	Sickle cell-beta-thalassemia disease HbS-beta-thalassemia syndrome	1 emergency guideline(s) Drépanocytose Orphanet Urgences	french
ORPHA:251365	Sickle cell S-C disease Hemoglobin S-C disease HbSC disease Sickle cell-hemoglobin C disease	1 emergency guideline(s) Drépanocytose Orphanet Urgences	french
ORPHA:251393	Localized junctional epidermolysis bullosa JEB-nH loc Junctional epidermolysis bullosa, non-Herlitz localized type Localized JEB	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:2278	Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome Passwell-Goodman-Siprkowski syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:251328	Unclassified vasculitis	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:251325	Drug-induced vasculitis	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:252202	Constitutional mismatch repair deficiency syndrome CMMR-D syndrome	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:575	Muckle-Wells syndrome Neutrophilic urticaria	1 emergency guideline(s) Syndrome périodique associé à la cryopyrine (CAPS) Orphanet Urgences	french
ORPHA:2573	Moyamoya disease Idiopathic Moyamoya disease	1 emergency guideline(s) Maladie de Moya-Moya Orphanet Urgences	french
ORPHA:2571	X-linked immunoneurologic disorder Woods-Black-Norbury syndrome	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:2585	Ataxia-pancytopenia syndrome ATXPC syndrome SAMD9L-related ataxia-pancytopenia syndrome Myelocerebellar disorder	1 emergency guideline(s) Aplasie médullaire Orphanet Urgences	french
ORPHA:3055	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome Young-Hughes syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:263516	Progressive myoclonic epilepsy type 3 EPM3 PME type 3 Progressive myoclonic epilepsy due to KCTD7 deficiency Progressive myoclonus epilepsy type 3	1 emergency guideline(s) Epilepsies myocloniques progressives (EMP) Orphanet Urgences	french
ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	1 emergency guideline(s) Syndrome de West Orphanet Urgences	french
ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency GSD type 15 GSD type XV GSD with severe cardiomyopathy due to glycogenin deficiency Glycogen storage disease type 15 Glycogen storage disease type XV Glycogenosis type 15 Glycogenosis type XV Glycogenosis with severe cardiomyopathy due to glycogenin deficiency	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:3132	Say-Barber-Miller syndrome Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:2978	Chronic intestinal pseudoobstruction syndrome CIPO CIP syndrome CIPO syndrome CIPS	1 emergency guideline(s) Pseudo-obstruction intestinale chronique (POIC) Orphanet Urgences	french
ORPHA:264973	Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Secondary ILD in childhood and adulthood associated with a systemic vasculitis	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:264709	Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis Secondary ILD specific to childhood associated with a systemic vasculitis	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency GSD due to liver phosphorylase kinase deficiency GSD type 9A GSD type 9C GSD type IXa GSD type IXc Glycogen storage disease type 9A Glycogen storage disease type 9C Glycogen storage disease type IXa Glycogen storage disease type IXc Glycogenosis due to liver phosphorylase kinase deficiency Glycogenosis type 9A Glycogenosis type 9C Glycogenosis type IXa Glycogenosis type IXc XLG	3 emergency guideline(s) Glycogénoses types 0 - 6 - 9 G2M Hypoglycémie récidivante chez patient non connu G2M Hypoglycémie aux urgences chez un patient non connu G2M	french
ORPHA:275803	Pulmonary arterial hypertension associated with congenital heart disease PAH associated with congenital heart disease	1 emergency guideline(s) Hypertension artérielle pulmonaire Orphanet Urgences	french
ORPHA:275808	Pulmonary arterial hypertension associated with HIV infection PAH associated with HIV infaction	1 emergency guideline(s) Hypertension artérielle pulmonaire Orphanet Urgences	french
ORPHA:275813	Pulmonary arterial hypertension associated with portal hypertension PAH associated with portal hypertension POPH Portopulmonary hypertension	1 emergency guideline(s) Hypertension artérielle pulmonaire Orphanet Urgences	french
ORPHA:275823	Pulmonary arterial hypertension associated with schistosomiasis PAH associated with schistosomiasis	1 emergency guideline(s) Hypertension artérielle pulmonaire Orphanet Urgences	french
ORPHA:275786	Drug- or toxin-induced pulmonary arterial hypertension Drug- or toxin-induced PAH	1 emergency guideline(s) Hypertension artérielle pulmonaire Orphanet Urgences	french
ORPHA:275791	Pulmonary arterial hypertension associated with another disease PAH associated with another disease Secondary PAH	1 emergency guideline(s) Hypertension artérielle pulmonaire Orphanet Urgences	french
ORPHA:275798	Pulmonary arterial hypertension associated with connective tissue disease PAH associated with connective tissue disease	1 emergency guideline(s) Hypertension artérielle pulmonaire Orphanet Urgences	french
ORPHA:275752	Sickle cell disease	1 emergency guideline(s) Drépanocytose Orphanet Urgences	french
ORPHA:275766	Idiopathic pulmonary arterial hypertension IPAH Primary pulmonary arterial hypertension	1 emergency guideline(s) Hypertension artérielle pulmonaire Orphanet Urgences	french
ORPHA:275828	Pulmonary arterial hypertension associated with chronic hemolytic anemia PAH associated with chronic hemolytic anemia	1 emergency guideline(s) Hypertension artérielle pulmonaire Orphanet Urgences	french
ORPHA:3319	Congenital amegakaryocytic thrombocytopenia CAMT	1 emergency guideline(s) Aplasie médullaire Orphanet Urgences	french
ORPHA:3453	Autoimmune polyendocrinopathy type 1 APECED syndrome APS type 1 APS1 Autoimmune polyendocrine syndrome type 1 Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome Autoimmune polyglandular syndrome type 1 HAM syndrome Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome MEDAC syndrome Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Multiple endocrine deficiency-Addison disease-candidiasis syndrome	1 emergency guideline(s) Polyendocrinopathie auto-immune de type 1 Orphanet Urgences	french
ORPHA:3453	Autoimmune polyendocrinopathy type 1 APECED syndrome APS type 1 APS1 Autoimmune polyendocrine syndrome type 1 Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome Autoimmune polyglandular syndrome type 1 HAM syndrome Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome MEDAC syndrome Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Multiple endocrine deficiency-Addison disease-candidiasis syndrome	1 emergency guideline(s) Autoimmunologiczny zespol niedoczynnosci wielogruczolowej typu 1 Orphanet Urgences	polish
ORPHA:3453	Autoimmune polyendocrinopathy type 1 APECED syndrome APS type 1 APS1 Autoimmune polyendocrine syndrome type 1 Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome Autoimmune polyglandular syndrome type 1 HAM syndrome Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome MEDAC syndrome Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Multiple endocrine deficiency-Addison disease-candidiasis syndrome	1 emergency guideline(s) Autoimmun-Polyendokrinopathie Typ 1 Orphanet Urgences	german
ORPHA:3453	Autoimmune polyendocrinopathy type 1 APECED syndrome APS type 1 APS1 Autoimmune polyendocrine syndrome type 1 Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome Autoimmune polyglandular syndrome type 1 HAM syndrome Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome MEDAC syndrome Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Multiple endocrine deficiency-Addison disease-candidiasis syndrome	1 emergency guideline(s) Type 1 autoimmune polyendocrinopathy Orphanet Urgences	english
ORPHA:3453	Autoimmune polyendocrinopathy type 1 APECED syndrome APS type 1 APS1 Autoimmune polyendocrine syndrome type 1 Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome Autoimmune polyglandular syndrome type 1 HAM syndrome Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome MEDAC syndrome Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Multiple endocrine deficiency-Addison disease-candidiasis syndrome	1 emergency guideline(s) Poliendocrinopatía autoinmune de tipo 1 Orphanet Urgences	spanish
ORPHA:3453	Autoimmune polyendocrinopathy type 1 APECED syndrome APS type 1 APS1 Autoimmune polyendocrine syndrome type 1 Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome Autoimmune polyglandular syndrome type 1 HAM syndrome Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome MEDAC syndrome Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Multiple endocrine deficiency-Addison disease-candidiasis syndrome	1 emergency guideline(s) Poliendocrinopatia autoimmune tipo 1 Orphanet Urgences	italian
ORPHA:3453	Autoimmune polyendocrinopathy type 1 APECED syndrome APS type 1 APS1 Autoimmune polyendocrine syndrome type 1 Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome Autoimmune polyglandular syndrome type 1 HAM syndrome Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome MEDAC syndrome Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome Multiple endocrine deficiency-Addison disease-candidiasis syndrome	1 emergency guideline(s) Poliendocrinopatia autoimune de tipo 1 Orphanet Urgences	portuguese
ORPHA:280369	Rare pediatric vasculitis	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	1 emergency guideline(s) Phéochromocytomes et paragangliomes fonctionnels Orphanet Urgences	french
ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	1 emergency guideline(s) Feocromocitomas y paragangliomas funcionantes Orphanet Urgences	spanish
ORPHA:746	Mitochondrial trifunctional protein deficiency TFP deficiency TFPD	5 emergency guideline(s) Insuffisance hépatique néonatale G2M Hypoglycémie aux urgences chez un patient non connu G2M Hypoglycémie récidivante chez patient non connu G2M Rhabdomyolyse peu sévère chez un patient connu G2M Présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) G2M	french
ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency GSD due to hepatic glycogen synthase deficiency GSD type 0a Glycogen storage disease due to liver glycogen synthase deficiency Glycogen storage disease type 0a Glycogenosis type 0a	3 emergency guideline(s) Glycogénoses types 0 - 6 - 9 G2M Hypoglycémie récidivante chez patient non connu G2M Hypoglycémie aux urgences chez un patient non connu G2M	french
ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency GSD due to hepatic glycogen synthase deficiency GSD type 0a Glycogen storage disease due to liver glycogen synthase deficiency Glycogen storage disease type 0a Glycogenosis type 0a	1 emergency guideline(s) Ketotic hypoglycemia Brit Inher Metab Dis Group	english
ORPHA:158	Systemic primary carnitine deficiency CDSP CUD Carnitine transporter defect Carnitine uptake deficiency Deficiency of plasma-membrane carnitine transporter SPCD	1 emergency guideline(s) Protocole d'urgence - présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) G2M	french
ORPHA:158	Systemic primary carnitine deficiency CDSP CUD Carnitine transporter defect Carnitine uptake deficiency Deficiency of plasma-membrane carnitine transporter SPCD	2 emergency guideline(s) Carnitine transporter deficiency (group of mitochondrial fatty acid ß-oxidation deficiencies) G2M Carnitine transporter deficiency Brit Inher Metab Dis Group	english
ORPHA:832	Succinyl-CoA:3-oxoacid CoA transferase deficiency OXCT1 deficiency SCOT deficiency Succinyl-CoA acetoacetate transferase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency	2 emergency guideline(s) Déficit de la cétolyse G2M Acidose métabolique G2M	french
ORPHA:832	Succinyl-CoA:3-oxoacid CoA transferase deficiency OXCT1 deficiency SCOT deficiency Succinyl-CoA acetoacetate transferase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency	2 emergency guideline(s) Ketoacidosis from ketolysis disorders : SCOT - MAT - MCT1 G2M Succinyl-CoA:3-oxoacid CoA transferase deficiency Brit Inher Metab Dis Group	english
ORPHA:20	3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency HMG-CoA lyase deficiency Hydroxymethylglutaric aciduria	2 emergency guideline(s) Protocole d'urgence - Hypoglycémie récidivante chez patient non connu G2M Protocole d'urgence - Hypoglycémie aux urgences chez un patient non connu G2M	french
ORPHA:20	3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency HMG-CoA lyase deficiency Hydroxymethylglutaric aciduria	4 emergency guideline(s) Hypoglycaemia in A&E (no diagnosis known) G2M Recurrent undiagnosed hypoglycaemia G2M Ketogenesis disorders G2M 3-hydroxy-3-methylglutaric aciduria Brit Inher Metab Dis Group	english
ORPHA:28	Vitamin B12-responsive methylmalonic acidemia Adenosylcobalamin deficiency Vitamin B12-responsive methylmalonic aciduria	1 emergency guideline(s) Methylmalonic acidemia Brit Inher Metab Dis Group	english
ORPHA:3095	Atypical Rett syndrome Atypical RTT Rett syndrome variant	1 emergency guideline(s) Syndrome de Rett Orphanet Urgences	french
ORPHA:3095	Atypical Rett syndrome Atypical RTT Rett syndrome variant	1 emergency guideline(s) Síndrome de Rett Orphanet Urgences	spanish
ORPHA:208650	NLRP3-associated autoinflammatory disease CAPS Cryopyrinopathy Cryopyrin associated periodic syndrome NLRP3-associated autoinflammatory syndrome NLRP3-associated AID	1 emergency guideline(s) Syndrome périodique associé à la cryopyrine (CAPS) Orphanet Urgences	french
ORPHA:209973	Benign nocturnal alternating hemiplegia of childhood	1 emergency guideline(s) Hémiplégie alternante de lenfance Orphanet Urgences	french
ORPHA:209978	Alternating hemiplegia	1 emergency guideline(s) Hémiplégie alternante de lenfance Orphanet Urgences	french
ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia Polymorphic ventricular tachycardia induced by catecholamines CPVT Malignant paroxysmal ventricular tachycardia Bidirectional ventricular tachycardia induced by catecholamine	1 emergency guideline(s) Tachycardie ventriculaire catécholergique (TVC) Orphanet Urgences	french
ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia Polymorphic ventricular tachycardia induced by catecholamines CPVT Malignant paroxysmal ventricular tachycardia Bidirectional ventricular tachycardia induced by catecholamine	1 emergency guideline(s) Katecholaminerge polymorphe ventrikuläre Tachykardie Orphanet Urgences	german
ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia Polymorphic ventricular tachycardia induced by catecholamines CPVT Malignant paroxysmal ventricular tachycardia Bidirectional ventricular tachycardia induced by catecholamine	1 emergency guideline(s) Taquicardia ventricular catecolaminérgica Orphanet Urgences	spanish
ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia Polymorphic ventricular tachycardia induced by catecholamines CPVT Malignant paroxysmal ventricular tachycardia Bidirectional ventricular tachycardia induced by catecholamine	1 emergency guideline(s) Tachicardia ventricolare catecolaminergica Orphanet Urgences	italian
ORPHA:3286	Catecholaminergic polymorphic ventricular tachycardia Polymorphic ventricular tachycardia induced by catecholamines CPVT Malignant paroxysmal ventricular tachycardia Bidirectional ventricular tachycardia induced by catecholamine	1 emergency guideline(s) Taquicardia ventricular catecolaminérgica Orphanet Urgences	portuguese
ORPHA:3240	Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:211266	Fast-flow vascular malformation Rare arteriovenous malformation	1 emergency guideline(s) Malformations artérioveineuses médullaires Orphanet Urgences	french
ORPHA:35	Propionic acidemia Ketotic hyperglycinemia Propionic aciduria Propionyl-CoA carboxylase deficiency	3 emergency guideline(s) Aciduries organiques : Acidémie méthylmalonique - Acidémie propionique G2M Acidose métabolique G2M Coma et maladies héréditaires du métabolisme G2M	french
ORPHA:35	Propionic acidemia Ketotic hyperglycinemia Propionic aciduria Propionyl-CoA carboxylase deficiency	3 emergency guideline(s) COMA and inherited metabolic diseases (new patient) G2M Metabolic acidosis protocol (new patient) G2M Propionic acidemia Brit Inher Metab Dis Group	english
ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency LCHAD deficiency LCHADD Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency	5 emergency guideline(s) Rhabdomyolyse peu sévère chez un patient connu G2M Présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) G2M Rhabdomyolyse aux urgences patient non connu G2M Déficits oxydation acides gras : VLCAD, LCHAD, CPT2, Translocase, Trifonctionnelle, Acidurie Glutarique de type 2 (AG2) G2M Hypoglycémie aux urgences chez un patient non connu G2M	french
ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency LCHAD deficiency LCHADD Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency	1 emergency guideline(s) Long chain fat oxidation disorders Brit Inher Metab Dis Group	english
ORPHA:25	Glutaryl-CoA dehydrogenase deficiency GA1 GCDHD Glutaric acidemia type 1 Glutaric aciduria type 1 Glutaryl-coenzyme A dehydrogenase deficiency	1 emergency guideline(s) Acidurie glutarique de type 1 G2M	french
ORPHA:25	Glutaryl-CoA dehydrogenase deficiency GA1 GCDHD Glutaric acidemia type 1 Glutaric aciduria type 1 Glutaryl-coenzyme A dehydrogenase deficiency	3 emergency guideline(s) Glutaric aciduria type 1 G2M COMA and inherited metabolic diseases (new patient) G2M Glutaric aciduria type 1 Brit Inher Metab Dis Group	english
ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency ACADM deficiency Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency MCAD deficiency MCADD Medium chain acyl-coenzyme A dehydrogenase deficiency	4 emergency guideline(s) Hypoglycémie aux urgences chez un patient non connu G2M Déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne (MCAD) Orphanet Urgences Hypoglycémie récidivante chez patient non connu G2M Déficits Oxydation acides gras : MCAD G2M	french
ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency ACADM deficiency Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency MCAD deficiency MCADD Medium chain acyl-coenzyme A dehydrogenase deficiency	4 emergency guideline(s) Mitochondrial fatty acid ß-oxidation disorders G2M Recurrent undiagnosed hypoglycaemia G2M Hypoglycaemia in A&E (no diagnosis known) G2M Medium chain fat oxidation disorders Brit Inher Metab Dis Group	english
ORPHA:882	Tyrosinemia type 1 FAH deficiency Fumarylacetoacetase deficiency Fumarylacetoacetate hydrolase deficiency Hepatorenal tyrosinemia Tyrosinemia type I	1 emergency guideline(s) Protocole d'urgence - insuffisance hépatique néonatale G2M	french
ORPHA:882	Tyrosinemia type 1 FAH deficiency Fumarylacetoacetase deficiency Fumarylacetoacetate hydrolase deficiency Hepatorenal tyrosinemia Tyrosinemia type I	1 emergency guideline(s) Tyrosinemia type 1 G2M	english
ORPHA:216796	Osteogenesis imperfecta type 1 Adair-Dighton syndrome Mild osteogenesis imperfecta Non-deforming osteogenesis imperfecta OI type 1 Van der Hoeve syndrome	1 emergency guideline(s) Ostéogenèse imparfaite Orphanet Urgences	french
ORPHA:216796	Osteogenesis imperfecta type 1 Adair-Dighton syndrome Mild osteogenesis imperfecta Non-deforming osteogenesis imperfecta OI type 1 Van der Hoeve syndrome	1 emergency guideline(s) Wrodzona lamliwosc kosci Orphanet Urgences	polish
ORPHA:216796	Osteogenesis imperfecta type 1 Adair-Dighton syndrome Mild osteogenesis imperfecta Non-deforming osteogenesis imperfecta OI type 1 Van der Hoeve syndrome	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	german
ORPHA:216796	Osteogenesis imperfecta type 1 Adair-Dighton syndrome Mild osteogenesis imperfecta Non-deforming osteogenesis imperfecta OI type 1 Van der Hoeve syndrome	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	english
ORPHA:216796	Osteogenesis imperfecta type 1 Adair-Dighton syndrome Mild osteogenesis imperfecta Non-deforming osteogenesis imperfecta OI type 1 Van der Hoeve syndrome	1 emergency guideline(s) Osteogénesis imperfecta (OI) Orphanet Urgences	spanish
ORPHA:216796	Osteogenesis imperfecta type 1 Adair-Dighton syndrome Mild osteogenesis imperfecta Non-deforming osteogenesis imperfecta OI type 1 Van der Hoeve syndrome	1 emergency guideline(s) Osteogenesi imperfetta (OI) Orphanet Urgences	italian
ORPHA:216796	Osteogenesis imperfecta type 1 Adair-Dighton syndrome Mild osteogenesis imperfecta Non-deforming osteogenesis imperfecta OI type 1 Van der Hoeve syndrome	1 emergency guideline(s) Osteogenese imperfeita Orphanet Urgences	portuguese
ORPHA:903	Von Willebrand disease Hereditary von Willebrand disease Hereditary pseudohaemophilia	1 emergency guideline(s) Maladie de von Willebrand Orphanet Urgences	french
ORPHA:216804	Osteogenesis imperfecta type 2 Lethal osteogenesis imperfecta OI type 2	1 emergency guideline(s) Ostéogenèse imparfaite Orphanet Urgences	french
ORPHA:216804	Osteogenesis imperfecta type 2 Lethal osteogenesis imperfecta OI type 2	1 emergency guideline(s) Wrodzona lamliwosc kosci Orphanet Urgences	polish
ORPHA:216804	Osteogenesis imperfecta type 2 Lethal osteogenesis imperfecta OI type 2	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	german
ORPHA:216804	Osteogenesis imperfecta type 2 Lethal osteogenesis imperfecta OI type 2	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	english
ORPHA:216804	Osteogenesis imperfecta type 2 Lethal osteogenesis imperfecta OI type 2	1 emergency guideline(s) Osteogénesis imperfecta (OI) Orphanet Urgences	spanish
ORPHA:216804	Osteogenesis imperfecta type 2 Lethal osteogenesis imperfecta OI type 2	1 emergency guideline(s) Osteogenesi imperfetta (OI) Orphanet Urgences	italian
ORPHA:216804	Osteogenesis imperfecta type 2 Lethal osteogenesis imperfecta OI type 2	1 emergency guideline(s) Osteogenese imperfeita Orphanet Urgences	portuguese
ORPHA:216812	Osteogenesis imperfecta type 3 OI type 3 Progressive deforming osteogenesis imperfecta Severe osteogenesis imperfecta	1 emergency guideline(s) Ostéogenèse imparfaite Orphanet Urgences	french
ORPHA:216812	Osteogenesis imperfecta type 3 OI type 3 Progressive deforming osteogenesis imperfecta Severe osteogenesis imperfecta	1 emergency guideline(s) Wrodzona lamliwosc kosci Orphanet Urgences	polish
ORPHA:216812	Osteogenesis imperfecta type 3 OI type 3 Progressive deforming osteogenesis imperfecta Severe osteogenesis imperfecta	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	german
ORPHA:216812	Osteogenesis imperfecta type 3 OI type 3 Progressive deforming osteogenesis imperfecta Severe osteogenesis imperfecta	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	english
ORPHA:216812	Osteogenesis imperfecta type 3 OI type 3 Progressive deforming osteogenesis imperfecta Severe osteogenesis imperfecta	1 emergency guideline(s) Osteogénesis imperfecta (OI) Orphanet Urgences	spanish
ORPHA:216812	Osteogenesis imperfecta type 3 OI type 3 Progressive deforming osteogenesis imperfecta Severe osteogenesis imperfecta	1 emergency guideline(s) Osteogenesi imperfetta (OI) Orphanet Urgences	italian
ORPHA:216812	Osteogenesis imperfecta type 3 OI type 3 Progressive deforming osteogenesis imperfecta Severe osteogenesis imperfecta	1 emergency guideline(s) Osteogenese imperfeita Orphanet Urgences	portuguese
ORPHA:216820	Osteogenesis imperfecta type 4 OI type 4	1 emergency guideline(s) Ostéogenèse imparfaite Orphanet Urgences	french
ORPHA:216820	Osteogenesis imperfecta type 4 OI type 4	1 emergency guideline(s) Wrodzona lamliwosc kosci Orphanet Urgences	polish
ORPHA:216820	Osteogenesis imperfecta type 4 OI type 4	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	german
ORPHA:216820	Osteogenesis imperfecta type 4 OI type 4	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	english
ORPHA:216820	Osteogenesis imperfecta type 4 OI type 4	1 emergency guideline(s) Osteogénesis imperfecta (OI) Orphanet Urgences	spanish
ORPHA:216820	Osteogenesis imperfecta type 4 OI type 4	1 emergency guideline(s) Osteogenesi imperfetta (OI) Orphanet Urgences	italian
ORPHA:216820	Osteogenesis imperfecta type 4 OI type 4	1 emergency guideline(s) Osteogenese imperfeita Orphanet Urgences	portuguese
ORPHA:216828	Osteogenesis imperfecta type 5 OI type 5	1 emergency guideline(s) Ostéogenèse imparfaite Orphanet Urgences	french
ORPHA:216828	Osteogenesis imperfecta type 5 OI type 5	1 emergency guideline(s) Wrodzona lamliwosc kosci Orphanet Urgences	polish
ORPHA:216828	Osteogenesis imperfecta type 5 OI type 5	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	german
ORPHA:216828	Osteogenesis imperfecta type 5 OI type 5	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	english
ORPHA:216828	Osteogenesis imperfecta type 5 OI type 5	1 emergency guideline(s) Osteogénesis imperfecta (OI) Orphanet Urgences	spanish
ORPHA:216828	Osteogenesis imperfecta type 5 OI type 5	1 emergency guideline(s) Osteogenesi imperfetta (OI) Orphanet Urgences	italian
ORPHA:216828	Osteogenesis imperfecta type 5 OI type 5	1 emergency guideline(s) Osteogenese imperfeita Orphanet Urgences	portuguese
ORPHA:1451	CINCA syndrome IOMID syndrome Infantile-onset multisystem inflammatory disease NOMID syndrome Neonatal-onset multisystem inflammatory disease Prieur-Griscelli syndrome Chronic infantile neurological cutaneous and articular syndrome	1 emergency guideline(s) Syndrome périodique associé à la cryopyrine (CAPS) Orphanet Urgences	french
ORPHA:3260	Idiopathic hypereosinophilic syndrome	1 emergency guideline(s) Syndromes hyperéosinophiliques Orphanet Urgences	french
ORPHA:217587	Mitochondrial disease with hypertrophic cardiomyopathy	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:217591	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:422	Idiopathic/heritable pulmonary arterial hypertension Idiopathic and/or familial pulmonary arterial hypertension	1 emergency guideline(s) Hypertension artérielle pulmonaire Orphanet Urgences	french
ORPHA:217595	Syndrome associated with hypertrophic cardiomyopathy	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:217598	Non-familial hypertrophic cardiomyopathy	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:217569	Rare hypertrophic cardiomyopathy	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:217581	Lysosomal disease with hypertrophic cardiomyopathy	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:159	Carnitine-acylcarnitine translocase deficiency CACT deficiency	7 emergency guideline(s) Rhabdomyolyse sévère chez un patient connu G2M Hypoglycémie aux urgences chez un patient non connu G2M Déficits oxydation acides gras : VLCAD, LCHAD, CPT2, Translocase, Trifonctionnelle, Acidurie Glutarique de type 2 (AG2) G2M Présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) G2M Insuffisance hépatique néonatale G2M Hypoglycémie récidivante chez patient non connu G2M Rhabdomyolyse aux urgences patient non connu G2M	french
ORPHA:159	Carnitine-acylcarnitine translocase deficiency CACT deficiency	1 emergency guideline(s) Long chain fat oxidation disorders Brit Inher Metab Dis Group	english
ORPHA:217656	Inherited isolated arrhythmogenic cardiomyopathy	1 emergency guideline(s) Cardiomyopathie ventriculaire droite arythmogène (CVDA) Orphanet Urgences	french
ORPHA:220402	Limited cutaneous systemic sclerosis Limited cutaneous systemic scleroderma	1 emergency guideline(s) Sclérodermie systémique Orphanet Urgences	french
ORPHA:220402	Limited cutaneous systemic sclerosis Limited cutaneous systemic scleroderma	1 emergency guideline(s) Systemische Sklerodermie Orphanet Urgences	german
ORPHA:220402	Limited cutaneous systemic sclerosis Limited cutaneous systemic scleroderma	1 emergency guideline(s) Esclerodermia sistémica Orphanet Urgences	spanish
ORPHA:220402	Limited cutaneous systemic sclerosis Limited cutaneous systemic scleroderma	1 emergency guideline(s) Sclerodermia sistemica Orphanet Urgences	italian
ORPHA:220407	Limited systemic sclerosis Systemic sclerosis sine scleroderma	1 emergency guideline(s) Sclérodermie systémique Orphanet Urgences	french
ORPHA:220407	Limited systemic sclerosis Systemic sclerosis sine scleroderma	1 emergency guideline(s) Systemische Sklerodermie Orphanet Urgences	german
ORPHA:220407	Limited systemic sclerosis Systemic sclerosis sine scleroderma	1 emergency guideline(s) Esclerodermia sistémica Orphanet Urgences	spanish
ORPHA:220407	Limited systemic sclerosis Systemic sclerosis sine scleroderma	1 emergency guideline(s) Sclerodermia sistemica Orphanet Urgences	italian
ORPHA:220393	Diffuse cutaneous systemic sclerosis Diffuse cutaneous systemic scleroderma Progressive cutaneous systemic scleroderma Progressive cutaneous systemic sclerosis	1 emergency guideline(s) Sclérodermie systémique Orphanet Urgences	french
ORPHA:220393	Diffuse cutaneous systemic sclerosis Diffuse cutaneous systemic scleroderma Progressive cutaneous systemic scleroderma Progressive cutaneous systemic sclerosis	1 emergency guideline(s) Systemische Sklerodermie Orphanet Urgences	german
ORPHA:220393	Diffuse cutaneous systemic sclerosis Diffuse cutaneous systemic scleroderma Progressive cutaneous systemic scleroderma Progressive cutaneous systemic sclerosis	1 emergency guideline(s) Esclerodermia sistémica Orphanet Urgences	spanish
ORPHA:220393	Diffuse cutaneous systemic sclerosis Diffuse cutaneous systemic scleroderma Progressive cutaneous systemic scleroderma Progressive cutaneous systemic sclerosis	1 emergency guideline(s) Sclerodermia sistemica Orphanet Urgences	italian
ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency NAGS deficiency	1 emergency guideline(s) Déficits du cycle de lurée Orphanet Urgences	french
ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency NAGS deficiency	1 emergency guideline(s) NAGS deficiency Brit Inher Metab Dis Group	english
ORPHA:470	Lysinuric protein intolerance LPI Hyperdibasic aminoaciduria	2 emergency guideline(s) Protocole d'urgence - Coma et maladies héréditaires du métabolisme G2M Protocole d'urgence - Hyperammoniémie G2M	french
ORPHA:470	Lysinuric protein intolerance LPI Hyperdibasic aminoaciduria	7 emergency guideline(s) Lysinuric protein intolerance (LPI) (urea cycle disorder) G2M Hyperammonaemia protocol (new patient) G2M Recurring severe rhabdomyolysis with no diagnosis G2M Rhabdomyolysis protocol for A&E (new patient) G2M COMA and Inherited metabolic diseases (new patient) G2M Recurring mild rhabdomyolysis with no diagnosis G2M Hyperammonaemia due to transport defects Brit Inher Metab Dis Group	english
ORPHA:538	Lymphangioleiomyomatosis LAM	1 emergency guideline(s) Lymphangioléiomyomatose Orphanet Urgences	french
ORPHA:538	Lymphangioleiomyomatosis LAM	1 emergency guideline(s) Linfangioleiomiomatosis Orphanet Urgences	spanish
ORPHA:849	Glanzmann thrombasthenia	1 emergency guideline(s) Thrombasthénie de Glanzmann Orphanet Urgences	french
ORPHA:849	Glanzmann thrombasthenia	1 emergency guideline(s) Tromboastenia di Glanzmann Orphanet Urgences	italian
ORPHA:389	Langerhans cell histiocytosis Histiocytosis X Langerhans cell granulomatosis	1 emergency guideline(s) Histiocytose langerhansienne Orphanet Urgences	french
ORPHA:389	Langerhans cell histiocytosis Histiocytosis X Langerhans cell granulomatosis	1 emergency guideline(s) Histiocitosis de células de Langerhans Orphanet Urgences	spanish
ORPHA:223	Arginine vasopressin resistance Nephrogenic diabetes insipidus	1 emergency guideline(s) Diabète insipide néphrogénique Orphanet Urgences	french
ORPHA:223	Arginine vasopressin resistance Nephrogenic diabetes insipidus	1 emergency guideline(s) Diabetes insípida nefrogénica Orphanet Urgences	spanish
ORPHA:229717	Non-syndromic agammaglobulinemia Non-syndromic hypogammaglobulinemia	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:229720	Syndromic agammaglobulinemia	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form CPT2, hepatocardiomuscular form CPT2, severe infantile form CPTII, hepatocardiomuscular form CPTII, severe infantile form Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form Carnitine palmitoyl transferase deficiency type 2, severe infantile form	1 emergency guideline(s) Long chain fat oxidation disorders Brit Inher Metab Dis Group	english
ORPHA:2073	Narcolepsy type 1 Gélineau disease Narcolepsy-cataplexy Hypocretin/orexin deficiency syndrome	1 emergency guideline(s) Narcolepsie type 1 Orphanet Urgences	french
ORPHA:2073	Narcolepsy type 1 Gélineau disease Narcolepsy-cataplexy Hypocretin/orexin deficiency syndrome	1 emergency guideline(s) Narcolepsia tipo 1 Orphanet Urgences	spanish
ORPHA:231222	Beta-thalassemia intermedia Non-transfusion dependent beta-thalassemia Beta-NTDT	1 emergency guideline(s) Thalassémie Orphanet Urgences	french
ORPHA:231222	Beta-thalassemia intermedia Non-transfusion dependent beta-thalassemia Beta-NTDT	1 emergency guideline(s) Talasemia Orphanet Urgences	spanish
ORPHA:231214	Beta-thalassemia major Cooley anemia Mediterranean anemia Beta-TDT Beta transfusion dependent thalassemia	1 emergency guideline(s) Thalassémie Orphanet Urgences	french
ORPHA:231214	Beta-thalassemia major Cooley anemia Mediterranean anemia Beta-TDT Beta transfusion dependent thalassemia	1 emergency guideline(s) Talasemia Orphanet Urgences	spanish
ORPHA:231205	Common variable immunodeficiency without known genetic defect CVID without known genetic defect	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:230857	Ehlers-Danlos/osteogenesis imperfecta syndrome EDS/OI syndrome	1 emergency guideline(s) Ostéogenèse imparfaite Orphanet Urgences	french
ORPHA:230857	Ehlers-Danlos/osteogenesis imperfecta syndrome EDS/OI syndrome	1 emergency guideline(s) Wrodzona lamliwosc kosci Orphanet Urgences	polish
ORPHA:230857	Ehlers-Danlos/osteogenesis imperfecta syndrome EDS/OI syndrome	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	german
ORPHA:230857	Ehlers-Danlos/osteogenesis imperfecta syndrome EDS/OI syndrome	1 emergency guideline(s) Osteogenesis imperfecta (OI) Orphanet Urgences	english
ORPHA:230857	Ehlers-Danlos/osteogenesis imperfecta syndrome EDS/OI syndrome	1 emergency guideline(s) Osteogénesis imperfecta (OI) Orphanet Urgences	spanish
ORPHA:230857	Ehlers-Danlos/osteogenesis imperfecta syndrome EDS/OI syndrome	1 emergency guideline(s) Osteogenesi imperfetta (OI) Orphanet Urgences	italian
ORPHA:230857	Ehlers-Danlos/osteogenesis imperfecta syndrome EDS/OI syndrome	1 emergency guideline(s) Osteogénese Imperfeita Orphanet Urgences	portuguese
ORPHA:231556	Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Late-onset localized JEB-intellectual disability syndrome	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa Generalized DDEB	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:286	Vascular Ehlers-Danlos syndrome EDS IV Ehlers-Danlos syndrome type 4 Arterial-ecchymotic EDS Sack-Barabas syndrome vEDS Vascular EDS	1 emergency guideline(s) Syndrome dEhlers-Danlos vasculaire (SEDv - SED de type IV) Orphanet Urgences	french
ORPHA:286	Vascular Ehlers-Danlos syndrome EDS IV Ehlers-Danlos syndrome type 4 Arterial-ecchymotic EDS Sack-Barabas syndrome vEDS Vascular EDS	1 emergency guideline(s) Zespol Ehlersa i Danlosa typu IV Orphanet Urgences	polish
ORPHA:286	Vascular Ehlers-Danlos syndrome EDS IV Ehlers-Danlos syndrome type 4 Arterial-ecchymotic EDS Sack-Barabas syndrome vEDS Vascular EDS	1 emergency guideline(s) Ehlers-Danlos-Syndrom Typ IV Orphanet Urgences	german
ORPHA:286	Vascular Ehlers-Danlos syndrome EDS IV Ehlers-Danlos syndrome type 4 Arterial-ecchymotic EDS Sack-Barabas syndrome vEDS Vascular EDS	1 emergency guideline(s) Type IV Ehlers-Danlos Syndrome Orphanet Urgences	english
ORPHA:286	Vascular Ehlers-Danlos syndrome EDS IV Ehlers-Danlos syndrome type 4 Arterial-ecchymotic EDS Sack-Barabas syndrome vEDS Vascular EDS	1 emergency guideline(s) Síndrome de Ehlers-Danlos de tipo IV Orphanet Urgences	spanish
ORPHA:286	Vascular Ehlers-Danlos syndrome EDS IV Ehlers-Danlos syndrome type 4 Arterial-ecchymotic EDS Sack-Barabas syndrome vEDS Vascular EDS	1 emergency guideline(s) Sindrome di Ehlers-Danlos tipo IV Orphanet Urgences	italian
ORPHA:286	Vascular Ehlers-Danlos syndrome EDS IV Ehlers-Danlos syndrome type 4 Arterial-ecchymotic EDS Sack-Barabas syndrome vEDS Vascular EDS	1 emergency guideline(s) Síndrome de Ehlers-Danlos do tipo IV Orphanet Urgences	portuguese
ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy EBS-MD Limb-girdle muscular dystrophy with epidermolysis bullosa simplex EBS with muscular dystrophy	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:331235	Selective IgM deficiency Selective immunoglobulin M deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:331232	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:331240	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:324972	MAGIC syndrome Mouth and genital ulcers-inflamed cartilage syndrome	1 emergency guideline(s) Polychondrite atrophiante Orphanet Urgences	french
ORPHA:324924	Hereditary periodic fever syndrome	1 emergency guideline(s) Fièvre méditerranéenne familiale Orphanet Urgences	french
ORPHA:317473	Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency CVID phenotype due to IKAROS functional haploinsufficiency Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:314970	Lymphocytic hypereosinophilic syndrome HES-L Lymphocytic variant HES Lymphoid HES	1 emergency guideline(s) Syndromes hyperéosinophiliques Orphanet Urgences	french
ORPHA:314962	Secondary hypereosinophilic syndrome HES-R Reactive hypereosinophilic syndrome Secondary HES	1 emergency guideline(s) Syndromes hyperéosinophiliques Orphanet Urgences	french
ORPHA:314950	Primary hypereosinophilic syndrome Clonal hypereosinophilic syndrome HES-M HES-N Neoplastic hypereosinophilic syndrome Primary HES	1 emergency guideline(s) Syndromes hyperéosinophiliques Orphanet Urgences	french
ORPHA:314701	Primary systemic amyloidosis Systemic AL amyloidosis	1 emergency guideline(s) Amylose AL Orphanet Urgences	french
ORPHA:314701	Primary systemic amyloidosis Systemic AL amyloidosis	1 emergency guideline(s) Amiloidosis AL Orphanet Urgences	spanish
ORPHA:314709	Primary localized amyloidosis Localized AL amyloidosis	1 emergency guideline(s) Amylose AL Orphanet Urgences	french
ORPHA:314709	Primary localized amyloidosis Localized AL amyloidosis	1 emergency guideline(s) Amiloidosis AL Orphanet Urgences	spanish
ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome MCAHS type 3 Multiple congenital anomalies-hypotonia-seizures syndrome type 3 PIGT-CDG Congenital disorder of glycosylation due to PIGT deficiency	1 emergency guideline(s) Hypophosphatasie Orphanet Urgences	french
ORPHA:369861	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome SIFD syndrome	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:363992	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome 15q26.3 microdeletion syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Von Recklinghausen disease due to NF1 mutation or intragenic deletion	1 emergency guideline(s) Neurofibromatose type 1 Orphanet Urgences	french
ORPHA:352333	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ELOVL4-related neuro ichthyosis Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome DAVID syndrome	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:293910	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant Arrhythmogenic cardiomyopathy dominant-right variant Arrhythmogenic cardiomyopathy with right ventricular involvement Familial isolated arrhytmogenic ventricular dysplasia, right dominant form	1 emergency guideline(s) Cardiomyopathie ventriculaire droite arythmogène (CVDA) Orphanet Urgences	french
ORPHA:293899	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	1 emergency guideline(s) Cardiomyopathie ventriculaire droite arythmogène (CVDA) Orphanet Urgences	french
ORPHA:293888	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant ALVC Arrhythmogenic cardiomyopathy dominant-left variant Arrhythmogenic cardiomyopathy with left ventricular involvement Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form	1 emergency guideline(s) Cardiomyopathie ventriculaire droite arythmogène (CVDA) Orphanet Urgences	french
ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0 Complete deficiency of methylmalonyl-CoA mutase Vitamin B12-unresponsive methylmalonic aciduria type mut0	1 emergency guideline(s) Methylmalonic acidemia Brit Inher Metab Dis Group	english
ORPHA:289586	Exfoliative ichthyosis Autosomal recessive exfoliative ichthyosis Ichthyosis exfoliativa	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:293355	Methylmalonic acidemia without homocystinuria Methylmalonic aciduria without homocystinuria	1 emergency guideline(s) Methylmalonic acidemia Brit Inher Metab Dis Group	english
ORPHA:811	Shwachman-Diamond syndrome Pancreatic insufficiency and bone marrow dysfunction SDS Shwachman syndrome Shwachman-Bodian-Diamond syndrome	1 emergency guideline(s) Neutropénie constitutionnelle sévère Orphanet Urgences	french
ORPHA:811	Shwachman-Diamond syndrome Pancreatic insufficiency and bone marrow dysfunction SDS Shwachman syndrome Shwachman-Bodian-Diamond syndrome	1 emergency guideline(s) Schwere konstitutionelle Neutropenie Orphanet Urgences	german
ORPHA:811	Shwachman-Diamond syndrome Pancreatic insufficiency and bone marrow dysfunction SDS Shwachman syndrome Shwachman-Bodian-Diamond syndrome	1 emergency guideline(s) Neutropenia constitucional grave Orphanet Urgences	spanish
ORPHA:811	Shwachman-Diamond syndrome Pancreatic insufficiency and bone marrow dysfunction SDS Shwachman syndrome Shwachman-Bodian-Diamond syndrome	1 emergency guideline(s) Neutropenia costituzionale grave Orphanet Urgences	italian
ORPHA:293284	Tetrahydrobiopterin-responsive phenylketonuria BH4-responsive phenylketonuria BH4-responsive PKU Tetrahydrobiopterin-responsive PKU	1 emergency guideline(s) Phénylcétonurie Orphanet Urgences	french
ORPHA:293284	Tetrahydrobiopterin-responsive phenylketonuria BH4-responsive phenylketonuria BH4-responsive PKU Tetrahydrobiopterin-responsive PKU	1 emergency guideline(s) Fenilcetonuria Orphanet Urgences	spanish
ORPHA:2686	Cyclic neutropenia	1 emergency guideline(s) Neutropénie constitutionnelle sévère Orphanet Urgences	french
ORPHA:2686	Cyclic neutropenia	1 emergency guideline(s) Schwere konstitutionelle Neutropenie Orphanet Urgences	german
ORPHA:2686	Cyclic neutropenia	1 emergency guideline(s) Neutropenia constitucional grave Orphanet Urgences	spanish
ORPHA:2686	Cyclic neutropenia	1 emergency guideline(s) Neutropenia costituzionale grave Orphanet Urgences	italian
ORPHA:284993	Marfan syndrome and Marfan-related disorders	1 emergency guideline(s) Syndrome de Marfan et syndromes apparentés Orphanet Urgences	french
ORPHA:284993	Marfan syndrome and Marfan-related disorders	1 emergency guideline(s) Zespol Marfana Orphanet Urgences	polish
ORPHA:284993	Marfan syndrome and Marfan-related disorders	1 emergency guideline(s) Marfan-Syndrom Orphanet Urgences	german
ORPHA:284993	Marfan syndrome and Marfan-related disorders	1 emergency guideline(s) Marfan Syndrome Orphanet Urgences	english
ORPHA:284993	Marfan syndrome and Marfan-related disorders	1 emergency guideline(s) Síndrome de Marfan Orphanet Urgences	spanish
ORPHA:284993	Marfan syndrome and Marfan-related disorders	1 emergency guideline(s) Marfan (Sindrome di Marfan) Orphanet Urgences	italian
ORPHA:284993	Marfan syndrome and Marfan-related disorders	1 emergency guideline(s) Síndrome Marfan Orphanet Urgences	portuguese
ORPHA:284973	Marfan syndrome type 2 MFS2	1 emergency guideline(s) Syndrome de Marfan et syndromes apparentés Orphanet Urgences	french
ORPHA:284973	Marfan syndrome type 2 MFS2	1 emergency guideline(s) Zespol Marfana Orphanet Urgences	polish
ORPHA:284973	Marfan syndrome type 2 MFS2	1 emergency guideline(s) Marfan-Syndrom Orphanet Urgences	german
ORPHA:284973	Marfan syndrome type 2 MFS2	1 emergency guideline(s) Marfan Syndrome Orphanet Urgences	english
ORPHA:284973	Marfan syndrome type 2 MFS2	1 emergency guideline(s) Síndrome de Marfan Orphanet Urgences	spanish
ORPHA:284973	Marfan syndrome type 2 MFS2	1 emergency guideline(s) Marfan (Sindrome di Marfan) Orphanet Urgences	italian
ORPHA:284973	Marfan syndrome type 2 MFS2	1 emergency guideline(s) Síndrome Marfan Orphanet Urgences	portuguese
ORPHA:284963	Marfan syndrome type 1 MFS1	1 emergency guideline(s) Syndrome de Marfan et syndromes apparentés Orphanet Urgences	french
ORPHA:284963	Marfan syndrome type 1 MFS1	1 emergency guideline(s) Zespol Marfana Orphanet Urgences	polish
ORPHA:284963	Marfan syndrome type 1 MFS1	1 emergency guideline(s) Marfan-Syndrom Orphanet Urgences	german
ORPHA:284963	Marfan syndrome type 1 MFS1	1 emergency guideline(s) Marfan Syndrome Orphanet Urgences	english
ORPHA:284963	Marfan syndrome type 1 MFS1	1 emergency guideline(s) Síndrome de Marfan Orphanet Urgences	spanish
ORPHA:284963	Marfan syndrome type 1 MFS1	1 emergency guideline(s) Marfan (Sindrome di Marfan) Orphanet Urgences	italian
ORPHA:284963	Marfan syndrome type 1 MFS1	1 emergency guideline(s) Síndrome Marfan Orphanet Urgences	portuguese
ORPHA:284984	Aneurysm-osteoarthritis syndrome	1 emergency guideline(s) Syndrome de Marfan et syndromes apparentés Orphanet Urgences	french
ORPHA:284984	Aneurysm-osteoarthritis syndrome	1 emergency guideline(s) Zespol Marfana Orphanet Urgences	polish
ORPHA:284984	Aneurysm-osteoarthritis syndrome	1 emergency guideline(s) Marfan-Syndrom Orphanet Urgences	german
ORPHA:284984	Aneurysm-osteoarthritis syndrome	1 emergency guideline(s) Marfan Syndrome Orphanet Urgences	english
ORPHA:284984	Aneurysm-osteoarthritis syndrome	1 emergency guideline(s) Síndrome de Marfan Orphanet Urgences	spanish
ORPHA:284984	Aneurysm-osteoarthritis syndrome	1 emergency guideline(s) Marfan (Sindrome di Marfan) Orphanet Urgences	italian
ORPHA:284984	Aneurysm-osteoarthritis syndrome	1 emergency guideline(s) Síndrome Marfan Orphanet Urgences	portuguese
ORPHA:289390	Primary Sjögren disease Primary Sjögren syndrome Primary SjD	1 emergency guideline(s) Syndrome de Gougerot-Sjögren primitif Orphanet Urgences	french
ORPHA:289390	Primary Sjögren disease Primary Sjögren syndrome Primary SjD	1 emergency guideline(s) Síndrome de Sjögren primario Orphanet Urgences	spanish
ORPHA:281103	Keratinopathic ichthyosis KPI	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281097	Autosomal recessive congenital ichthyosis ARCI	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281090	Syndromic recessive X-linked ichthyosis Syndromic RXLI Recessive X-linked ichthyosis with extracutaneous manifestations	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281085	Inherited ichthyosis syndromic form	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281082	Inherited non-syndromic ichthyosis	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281210	X-linked ichthyosis syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281217	Autosomal ichthyosis syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281190	Congenital reticular ichthyosiform erythroderma CRIE IWC Ichthyosis variegata Ichthyosis with confetti	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome KLICK syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281139	Annular epidermolytic ichthyosis AEI	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281244	Autosomal ichthyosis syndrome with other associated signs	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281238	Autosomal ichthyosis syndrome with prominent neurologic signs	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281241	Autosomal ichthyosis syndrome with fatal disease course	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:281222	Autosomal ichthyosis syndrome with prominent hair abnormalities	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:280620	Progressive myoclonic epilepsy type 6 EPM6 GOSR2-related progressive myoclonus ataxia North Sea progressive myoclonus epilepsy PME type 6 Progressive myoclonus epilepsy type 6	1 emergency guideline(s) Epilepsies myocloniques progressives (EMP) Orphanet Urgences	french
ORPHA:280785	Bullous diffuse cutaneous mastocytosis Bullous DCM	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:280794	Pseudoxanthomatous diffuse cutaneous mastocytosis Infiltrative small vesicular DCM Infiltrative small vesicular diffuse cutaneous mastocytosis Pseudoxanthomatous DCM	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism	1 emergency guideline(s) Maladie de Moya-Moya Orphanet Urgences	french
ORPHA:282196	Autoimmune polyendocrinopathy APS Autoimmune polyglandular syndrome	1 emergency guideline(s) Polyendocrinopathie auto-immune de type 1 Orphanet Urgences	french
ORPHA:282196	Autoimmune polyendocrinopathy APS Autoimmune polyglandular syndrome	1 emergency guideline(s) Autoimmunologiczny zespol niedoczynnosci wielogruczolowej typu 1 Orphanet Urgences	polish
ORPHA:282196	Autoimmune polyendocrinopathy APS Autoimmune polyglandular syndrome	1 emergency guideline(s) Autoimmun-Polyendokrinopathie Typ 1 Orphanet Urgences	german
ORPHA:282196	Autoimmune polyendocrinopathy APS Autoimmune polyglandular syndrome	1 emergency guideline(s) Type 1 autoimmune polyendocrinopathy Orphanet Urgences	english
ORPHA:282196	Autoimmune polyendocrinopathy APS Autoimmune polyglandular syndrome	1 emergency guideline(s) Poliendocrinopatía autoinmune de tipo 1 Orphanet Urgences	spanish
ORPHA:282196	Autoimmune polyendocrinopathy APS Autoimmune polyglandular syndrome	1 emergency guideline(s) Poliendocrinopatia autoimune de tipo 1 Orphanet Urgences	portuguese
ORPHA:310050	Acquired immunodeficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:308442	Vitamin B12-responsive methylmalonic acidemia, type cblDv2 Vitamin B12-responsive methylmalonic aciduria, type cblDv2	1 emergency guideline(s) Methylmalonic acidemia Brit Inher Metab Dis Group	english
ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset Glycogenosis type II, infantile onset Glycogen storage disease type II, infantile onset GSD type II, infantile onset Pompe disease, infantile onset Glycogenosis type 2, infantile onset Alpha-1,4-glucosidase acid deficiency, infantile onset GSD due to acid maltase deficiency, infantile onset GSD type 2, infantile onset Glycogen storage disease type 2, infantile onset Glycogenosis due to acid maltase deficiency, infantile onset	3 emergency guideline(s) Présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) G2M Maladie de pompe infantile précoce G2M Maladie de pompe infantile précoce G2M	french
ORPHA:309246	GM2 gangliosidosis, AB variant Hexosaminidase activator deficiency	1 emergency guideline(s) Gangliosidoses à GM2 Orphanet Urgences	french
ORPHA:309185	Tay-Sachs disease, juvenile form Beta-hexosaminidase subunit alpha deficiency, juvenile form GM2 gangliosidosis, Tay-Sachs variant, juvenile form GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form HEXA disorder, juvenile form Subacute juvenile Tay-Sachs disease	1 emergency guideline(s) Gangliosidoses à GM2 Orphanet Urgences	french
ORPHA:309178	Tay-Sachs disease, infantile form Beta-hexosaminidase subunit alpha deficiency, infantile form GM2 gangliosidosis, Tay-Sachs variant, infantile form GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form HEXA disorder, infantile form Acute infantile Tay-Sachs disease	1 emergency guideline(s) Gangliosidoses à GM2 Orphanet Urgences	french
ORPHA:309192	Tay-Sachs disease, adult form GM2 gangliosidosis, Tay-Sachs variant, adult form GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form HEXA disorder, adult form Late-onset Tay-Sachs disease Beta-hexosaminidase subunit alpha deficiency, adult form	1 emergency guideline(s) Gangliosidoses à GM2 Orphanet Urgences	french
ORPHA:309155	Sandhoff disease, infantile form GM2 gangliosidosis, Sandhoff variant, infantile form GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form Beta-hexosaminidase subunit beta deficiency, infantile form	1 emergency guideline(s) Gangliosidoses à GM2 Orphanet Urgences	french
ORPHA:309152	GM2 gangliosidosis	1 emergency guideline(s) Gangliosidoses à GM2 Orphanet Urgences	french
ORPHA:309169	Sandhoff disease, adult form GM2 gangliosidosis, Sandhoff variant, adult form GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form Beta-hexosaminidase subunit beta deficiency, adult form	1 emergency guideline(s) Gangliosidoses à GM2 Orphanet Urgences	french
ORPHA:309162	Sandhoff disease, juvenile form Beta-hexosaminidase subunit beta deficiency, juvenile form GM2 gangliosidosis, Sandhoff variant, juvenile form GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form	1 emergency guideline(s) Gangliosidoses à GM2 Orphanet Urgences	french
ORPHA:464343	Catastrophic antiphospholipid syndrome CAPS Catastrophic APS	1 emergency guideline(s) Syndrome des anticorps antiphospholipides et syndrome catastrophique des antiphospholipides Orphanet Urgences	french
ORPHA:464343	Catastrophic antiphospholipid syndrome CAPS Catastrophic APS	1 emergency guideline(s) Anti-Phospholipid-Syndrom Orphanet Urgences	german
ORPHA:464343	Catastrophic antiphospholipid syndrome CAPS Catastrophic APS	1 emergency guideline(s) Síndrome antifosfolipídico Orphanet Urgences	spanish
ORPHA:464343	Catastrophic antiphospholipid syndrome CAPS Catastrophic APS	1 emergency guideline(s) Sindrome da anticorpi antifosfolipidi Orphanet Urgences	italian
ORPHA:464343	Catastrophic antiphospholipid syndrome CAPS Catastrophic APS	1 emergency guideline(s) Síndrome antifosfolipídica Orphanet Urgences	portuguese
ORPHA:537	Toxic epidermal necrolysis Lyell syndrome	1 emergency guideline(s) Nécrolyse épidermique Orphanet Urgences	french
ORPHA:537	Toxic epidermal necrolysis Lyell syndrome	1 emergency guideline(s) Epidermal necrolysis ERN-Skin	english
ORPHA:537	Toxic epidermal necrolysis Lyell syndrome	1 emergency guideline(s) Necrolisi epidermica tossica Orphanet Urgences	italian
ORPHA:632	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:2032	Idiopathic pulmonary fibrosis IPF	1 emergency guideline(s) Fibrose pulmonaire idiopathique Orphanet Urgences	french
ORPHA:2902	Idiopathic chronic eosinophilic pneumonia Chronic eosinophilic pneumonia	1 emergency guideline(s) Syndromes hyperéosinophiliques Orphanet Urgences	french
ORPHA:466650	Exercise-induced malignant hyperthermia Exertional heat stroke	2 emergency guideline(s) Rhabdomyolyse par mutation du gène RYR1 G2M Hyperthermie maligne induite par l'exercice Orphanet Urgences	french
ORPHA:466650	Exercise-induced malignant hyperthermia Exertional heat stroke	1 emergency guideline(s) Hipertermia maligna inducida por el ejercicio Orphanet Urgences	spanish
ORPHA:401948	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency CA-VA deficiency	2 emergency guideline(s) Hyperammoniémie G2M Déficit en Anhydrase carbonique G2M	french
ORPHA:401948	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency CA-VA deficiency	1 emergency guideline(s) Hyperammonaemia protocol (new patient) G2M	english
ORPHA:404580	Polyarticular juvenile idiopathic arthritis Juvenile polyarticular arthritis Juvenile polyarthritis Polyarticular JIA	1 emergency guideline(s) Arthrite idiopathique juvénile systémique Orphanet Urgences	french
ORPHA:404553	Deficiency of adenosine deaminase 2 Adenosine deaminase 2 deficiency ADA2 deficiency Vasculitis-autoinflammation-immunodeficiency- hematologic defects syndrome DADA2	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:391490	Adult-onset myasthenia gravis Adult-onset acquired myasthenia Adult-onset autoimmune myasthenia gravis	1 emergency guideline(s) Myasthénie autoimmune Orphanet Urgences	french
ORPHA:391490	Adult-onset myasthenia gravis Adult-onset acquired myasthenia Adult-onset autoimmune myasthenia gravis	1 emergency guideline(s) Myasthenia gravis Orphanet Urgences	german
ORPHA:391490	Adult-onset myasthenia gravis Adult-onset acquired myasthenia Adult-onset autoimmune myasthenia gravis	1 emergency guideline(s) Autoimmune myasthenia Orphanet Urgences	english
ORPHA:391490	Adult-onset myasthenia gravis Adult-onset acquired myasthenia Adult-onset autoimmune myasthenia gravis	1 emergency guideline(s) Miastenia autoinmune Orphanet Urgences	spanish
ORPHA:397692	Hereditary isolated aplastic anemia	1 emergency guideline(s) Aplasie médullaire Orphanet Urgences	french
ORPHA:397596	Activated PI3K-delta syndrome PASLI APDS Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation PI3K delta activating mutations causing senescent T cells, lymphadenopathy and immunodeficiency Activated p110-delta syndrome	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:439854	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Fatal congenital hypertrophic cardiomyopathy due to GSD Fatal congenital hypertrophic cardiomyopathy due to glycogenosis	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:443197	X-linked erythropoietic protoporphyria X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria XLDPP XLPP	1 emergency guideline(s) Porphyries cutanées tardives Orphanet Urgences	french
ORPHA:443197	X-linked erythropoietic protoporphyria X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria XLDPP XLPP	1 emergency guideline(s) Porfirie skorne Orphanet Urgences	polish
ORPHA:443197	X-linked erythropoietic protoporphyria X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria XLDPP XLPP	1 emergency guideline(s) Cutaneous porphyrias Orphanet Urgences	english
ORPHA:443197	X-linked erythropoietic protoporphyria X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria XLDPP XLPP	1 emergency guideline(s) Porfirias cutáneas Orphanet Urgences	spanish
ORPHA:443197	X-linked erythropoietic protoporphyria X-linked dominant erythropoietic protoporphyria X-linked dominant protoporphyria XLDPP XLPP	1 emergency guideline(s) Porfiria cutâneas Orphanet Urgences	portuguese
ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy MNGIE	1 emergency guideline(s) Pseudo-obstruction intestinale chronique (POIC) Orphanet Urgences	french
ORPHA:130	Brugada syndrome Ventricular fibrillation, Brugada type	1 emergency guideline(s) Syndrome de Brugada Orphanet Urgences	french
ORPHA:130	Brugada syndrome Ventricular fibrillation, Brugada type	1 emergency guideline(s) Brugada-Syndrom Orphanet Urgences	german
ORPHA:130	Brugada syndrome Ventricular fibrillation, Brugada type	1 emergency guideline(s) Sindrome di Brugada Orphanet Urgences	italian
ORPHA:130	Brugada syndrome Ventricular fibrillation, Brugada type	1 emergency guideline(s) Síndrome de Brugada Orphanet Urgences	portuguese
ORPHA:445197	Secondary vasculitis	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:420429	Glycogen storage disease due to acid maltase deficiency, late-onset GSD type II, late-onset Glycogen storage disease type II, late-onset Glycogenosis type II, late-onset GSD type 2, late-onset Glycogen storage disease type 2, late-onset Glycogenosis type 2, late-onset Pompe disease, late-onset Alpha-1,4-glucosidase acid deficiency, late-onset GSD due to acid maltase deficiency, late-onset	1 emergency guideline(s) Maladie de pompe juvénile et adulte G2M	french
ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency VLCAD deficiency VLCADD	1 emergency guideline(s) Déficits oxydation acides gras : VLCAD, LCHAD, CPT2, Translocase, Trifonctionnelle, Acidurie Glutarique de type 2 (AG2) G2M	french
ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency VLCAD deficiency VLCADD	2 emergency guideline(s) Mitochondrial fatty acid ß-oxidation disorders G2M Long chain fat oxidation disorders Brit Inher Metab Dis Group	english
ORPHA:29072	Hereditary pheochromocytoma-paraganglioma Familial pheochromocytoma-paraganglioma	1 emergency guideline(s) Phéochromocytomes et paragangliomes fonctionnels Orphanet Urgences	french
ORPHA:29072	Hereditary pheochromocytoma-paraganglioma Familial pheochromocytoma-paraganglioma	1 emergency guideline(s) Feocromocitomas y paragangliomas funcionantes Orphanet Urgences	spanish
ORPHA:725	Developmental and epileptic encephalopathy with spike-wave activation in sleep CSWS CSWSS syndrome Continuous spikes and waves during slow-wave sleep Epileptic encephalopathy with continuous spike-and-wave during slow sleep Continuous spikes and waves during sleep DEE-SWAS Epileptic encephalopathy with spike-and wave activation in sleep	1 emergency guideline(s) Épilepsie avec pointes-ondes continues du sommeil (EPOCS) Orphanet Urgences	french
ORPHA:725	Developmental and epileptic encephalopathy with spike-wave activation in sleep CSWS CSWSS syndrome Continuous spikes and waves during slow-wave sleep Epileptic encephalopathy with continuous spike-and-wave during slow sleep Continuous spikes and waves during sleep DEE-SWAS Epileptic encephalopathy with spike-and wave activation in sleep	1 emergency guideline(s) Epilessia con punte e onde continue durante il sonno Orphanet Urgences	italian
ORPHA:88	Idiopathic aplastic anemia Idiopathic bone marrow failure	1 emergency guideline(s) Aplasie médullaire Orphanet Urgences	french
ORPHA:26791	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2 Glutaric aciduria type 2 MAD deficiency MADD	7 emergency guideline(s) Insuffisance hépatique néonatale G2M Hypoglycémie aux urgences chez un patient non connu G2M Rhabdomyolyse aux urgences patient non connu G2M Déficits oxydation acides gras : VLCAD, LCHAD, CPT2, Translocase, Trifonctionnelle, Acidurie Glutarique de type 2 (AG2 G2M Rhabdomyolyse peu sévère chez un patient connu G2M Rhabdomyolyse sévère chez un patient connu G2M Présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) G2M	french
ORPHA:26791	Multiple acyl-CoA dehydrogenase deficiency Glutaric acidemia type 2 Glutaric aciduria type 2 MAD deficiency MADD	1 emergency guideline(s) Long chain fat oxidation disorders Brit Inher Metab Dis Group	english
ORPHA:505652	CDKL5-deficiency disorder CDD	1 emergency guideline(s) Syndrome de Rett Orphanet Urgences	french
ORPHA:505652	CDKL5-deficiency disorder CDD	1 emergency guideline(s) Síndrome de Rett Orphanet Urgences	spanish
ORPHA:506784	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome Stevens-Johnson/toxic epidermal necrolysis overlap syndrome SJS/TEN overlap syndrome Stevens-Johnson/TEN overlap syndrome	1 emergency guideline(s) Nécrolyse épidermique Orphanet Urgences	french
ORPHA:506784	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome Stevens-Johnson/toxic epidermal necrolysis overlap syndrome SJS/TEN overlap syndrome Stevens-Johnson/TEN overlap syndrome	1 emergency guideline(s) Epidermal necrolysis ERN-Skin	english
ORPHA:506784	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome Stevens-Johnson/toxic epidermal necrolysis overlap syndrome SJS/TEN overlap syndrome Stevens-Johnson/TEN overlap syndrome	1 emergency guideline(s) Necrolisi epidermica tossica Orphanet Urgences	italian
ORPHA:506219	Rare disorder potentially indicated for hematopoietic stem cell transplant	1 emergency guideline(s) Personnes allogreffées de cellules souches hématopoïétiques Orphanet Urgences	french
ORPHA:496693	Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Gershoni-Baruch syndrome	1 emergency guideline(s) Hernie de coupole diaphragmatique Orphanet Urgences	french
ORPHA:703	Bullous pemphigoid	1 emergency guideline(s) Pemphigoïde bulleuse Orphanet Urgences	french
ORPHA:728	Relapsing polychondritis Polychondropathia	1 emergency guideline(s) Polychondrite atrophiante Orphanet Urgences	french
ORPHA:247	Inherited arrhythmogenic cardiomyopathy Arrhythmogenic cardiomyopathy ACM	1 emergency guideline(s) Cardiomyopathie ventriculaire droite arythmogène (CVDA) Orphanet Urgences	french
ORPHA:658	Non-histaminic angioedema Angioneurotic edema Bradykinine-induced angioedema Non histamine-induced angioedema	1 emergency guideline(s) Angioedème bradykinique Orphanet Urgences	french
ORPHA:658	Non-histaminic angioedema Angioneurotic edema Bradykinine-induced angioedema Non histamine-induced angioedema	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:658	Non-histaminic angioedema Angioneurotic edema Bradykinine-induced angioedema Non histamine-induced angioedema	1 emergency guideline(s) Nicht-histaminvermitteltes Angioödem Orphanet Urgences	german
ORPHA:658	Non-histaminic angioedema Angioneurotic edema Bradykinine-induced angioedema Non histamine-induced angioedema	1 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:658	Non-histaminic angioedema Angioneurotic edema Bradykinine-induced angioedema Non histamine-induced angioedema	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:658	Non-histaminic angioedema Angioneurotic edema Bradykinine-induced angioedema Non histamine-induced angioedema	1 emergency guideline(s) Angioedema non istaminico Orphanet Urgences	italian
ORPHA:658	Non-histaminic angioedema Angioneurotic edema Bradykinine-induced angioedema Non histamine-induced angioedema	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:188	Systemic capillary leak syndrome Capillary hyperpermeability syndrome Capillary leak syndrome Clarkson disease Idiopathic capillary leak syndrome SCLS	1 emergency guideline(s) Syndrome de Clarkson Orphanet Urgences	french
ORPHA:303	Dystrophic epidermolysis bullosa DEB Dermolytic epidermolysis bullosa Epidermolysis bullosa dystrophica	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:305	Junctional epidermolysis bullosa Epidermolysis bullosa atrophicans JEB	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:2908	Kindler epidermolysis bullosa Kindler syndrome Poikiloderma of Kindler Congenital bullous poikiloderma	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:779	Reynolds syndrome Primary biliary cirrhosis and systemic scleroderma	1 emergency guideline(s) Sclérodermie systémique Orphanet Urgences	french
ORPHA:779	Reynolds syndrome Primary biliary cirrhosis and systemic scleroderma	1 emergency guideline(s) Systemische Sklerodermie Orphanet Urgences	german
ORPHA:779	Reynolds syndrome Primary biliary cirrhosis and systemic scleroderma	1 emergency guideline(s) Esclerodermia sistémica Orphanet Urgences	spanish
ORPHA:779	Reynolds syndrome Primary biliary cirrhosis and systemic scleroderma	1 emergency guideline(s) Sclerodermia sistemica Orphanet Urgences	italian
ORPHA:838	Susac syndrome Retinocochleocerebral vasculopathy	1 emergency guideline(s) Syndrome de Susac Orphanet Urgences	french
ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome TANGO2-related metabolic encephalopathy-arrhythmia syndrome	1 emergency guideline(s) Rhabdomyolyse par déficit en TANGO 2 G2M	french
ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome TANGO2-related metabolic encephalopathy-arrhythmia syndrome	1 emergency guideline(s) TANGO 2 deficiency G2M	english
ORPHA:30925	Hereditary arginine vasopressin deficiency Hereditary CDI Hereditary neurogenic diabetes insipidus	1 emergency guideline(s) Diabète insipide dorigine centrale Orphanet Urgences	french
ORPHA:30925	Hereditary arginine vasopressin deficiency Hereditary CDI Hereditary neurogenic diabetes insipidus	1 emergency guideline(s) Diabetes insípida central Orphanet Urgences	spanish
ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome De Vivo disease Classic GLUT1 deficiency syndrome Encephalopathy due to GLUT1 deficiency Classic GLUT1-DS	1 emergency guideline(s) Déficit en Glut-1 G2M	french
ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome De Vivo disease Classic GLUT1 deficiency syndrome Encephalopathy due to GLUT1 deficiency Classic GLUT1-DS	1 emergency guideline(s) GLUT1 deficiency syndrome Brit Inher Metab Dis Group	english
ORPHA:70593	Immunodeficiency due to selective anti-polysaccharide antibody deficiency Specific anti-polysaccharide antibody deficiency Selective anti-polysaccharide antibody deficiency Specific polysaccharide antibody deficiency SPAD	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:66661	Mast cell sarcoma	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:66646	Cutaneous mastocytosis	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:66631	CEDNIK syndrome Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:65283	Timothy syndrome LQT8 Long QT syndrome type 8 Long QT syndrome-syndactyly syndrome	1 emergency guideline(s) Syndrome du QT long Orphanet Urgences	french
ORPHA:65283	Timothy syndrome LQT8 Long QT syndrome type 8 Long QT syndrome-syndactyly syndrome	1 emergency guideline(s) Síndrome de QT largo familiar Orphanet Urgences	spanish
ORPHA:65283	Timothy syndrome LQT8 Long QT syndrome type 8 Long QT syndrome-syndactyly syndrome	2 emergency guideline(s) Sindrome del QT lungo Orphanet Urgences Sindrome familiare del QT lungo Orphanet Urgences	italian
ORPHA:65283	Timothy syndrome LQT8 Long QT syndrome type 8 Long QT syndrome-syndactyly syndrome	1 emergency guideline(s) Síndrome do QT longo familiar Orphanet Urgences	portuguese
ORPHA:65282	Carvajal syndrome Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome KWWH type II Keratoderma with woolly hair type II Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome	1 emergency guideline(s) Cardiomyopathie ventriculaire droite arythmogène (CVDA) Orphanet Urgences	french
ORPHA:561854	FOXG1 syndrome FOXG1-related epileptic-dyskinetic encephalopathy	1 emergency guideline(s) Syndrome de Rett Orphanet Urgences	french
ORPHA:561854	FOXG1 syndrome FOXG1-related epileptic-dyskinetic encephalopathy	1 emergency guideline(s) Síndrome de Rett Orphanet Urgences	spanish
ORPHA:60030	Loeys-Dietz syndrome Aortic aneurysm syndrome due to TGF-beta receptors anomalies	1 emergency guideline(s) Syndrome de Marfan et syndromes apparentés Orphanet Urgences	french
ORPHA:60030	Loeys-Dietz syndrome Aortic aneurysm syndrome due to TGF-beta receptors anomalies	1 emergency guideline(s) Zespol Marfana Orphanet Urgences	polish
ORPHA:60030	Loeys-Dietz syndrome Aortic aneurysm syndrome due to TGF-beta receptors anomalies	1 emergency guideline(s) Marfan-Syndrom Orphanet Urgences	german
ORPHA:60030	Loeys-Dietz syndrome Aortic aneurysm syndrome due to TGF-beta receptors anomalies	1 emergency guideline(s) Marfan Syndrome Orphanet Urgences	english
ORPHA:60030	Loeys-Dietz syndrome Aortic aneurysm syndrome due to TGF-beta receptors anomalies	1 emergency guideline(s) Síndrome de Marfan Orphanet Urgences	spanish
ORPHA:60030	Loeys-Dietz syndrome Aortic aneurysm syndrome due to TGF-beta receptors anomalies	1 emergency guideline(s) Marfan (Sindrome di Marfan) Orphanet Urgences	italian
ORPHA:60030	Loeys-Dietz syndrome Aortic aneurysm syndrome due to TGF-beta receptors anomalies	1 emergency guideline(s) Síndrome Marfan Orphanet Urgences	portuguese
ORPHA:79213	Mucopolysaccharidosis	1 emergency guideline(s) Mucopolysaccharidose (MPS) G2M	french
ORPHA:79234	Crigler-Najjar syndrome type 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin-UGT deficiency type 1	1 emergency guideline(s) Syndrome de Crigler-Najjar Orphanet Urgences	french
ORPHA:79234	Crigler-Najjar syndrome type 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin-UGT deficiency type 1	1 emergency guideline(s) Sindrome di Crigler-Najjar, tipo 1 Orphanet Urgences	italian
ORPHA:79167	Disorder of urea cycle metabolism and ammonia detoxification	5 emergency guideline(s) Déficits du cycle de l'urée G2M Hyperammoniémie G2M Coma et maladies héréditaires du métabolisme G2M Insuffisance hépatique néonatale G2M Déficits du cycle de l'urée Orphanet Urgences	french
ORPHA:79167	Disorder of urea cycle metabolism and ammonia detoxification	3 emergency guideline(s) Urea cycle disorders G2M Hyperammonaemia protocol (new patient) G2M COMA and inherited metabolic diseases (new patient) G2M	english
ORPHA:566393	Acute mast cell leukemia Acute MCL	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:566396	Chronic mast cell leukemia Chronic MCL	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:77261	Gaucher disease type 3 Cerebral juvenile and adult form of Gaucher disease Chronic neuronopathic Gaucher disease Gaucher disease, subacute neuronopathic type	1 emergency guideline(s) Maladie de Gaucher type 3 Orphanet Urgences	french
ORPHA:567502	B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome BILU syndrome Hoffman syndrome	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:567560	Systemic vasculitis associated with glomerulopathy	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:75391	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Primary immunodeficiency due to MCM4 deficiency	1 emergency guideline(s) Insuffisance surrénale aiguë (ISA) Orphanet Urgences	french
ORPHA:75391	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Primary immunodeficiency due to MCM4 deficiency	1 emergency guideline(s) Insufficienza surrenalica Orphanet Urgences	italian
ORPHA:77259	Gaucher disease type 1 Non-cerebral juvenile Gaucher disease	1 emergency guideline(s) Maladie de Gaucher de type 1 Orphanet Urgences	french
ORPHA:75325	Osteosclerosis-ichthyosis-premature ovarian failure syndrome Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ATRUS syndrome	1 emergency guideline(s) Aplasie médullaire Orphanet Urgences	french
ORPHA:37553	Andersen-Tawil syndrome Andersen syndrome LQT7 Long QT syndrome type 7	1 emergency guideline(s) Tachycardie ventriculaire catécholergique (TVC) Orphanet Urgences	french
ORPHA:37553	Andersen-Tawil syndrome Andersen syndrome LQT7 Long QT syndrome type 7	1 emergency guideline(s) Katecholaminerge polymorphe ventrikuläre Tachykardie Orphanet Urgences	german
ORPHA:37553	Andersen-Tawil syndrome Andersen syndrome LQT7 Long QT syndrome type 7	1 emergency guideline(s) Taquicardia ventricular catecolaminérgica Orphanet Urgences	spanish
ORPHA:37553	Andersen-Tawil syndrome Andersen syndrome LQT7 Long QT syndrome type 7	1 emergency guideline(s) Tachicardia ventricolare catecolaminergica Orphanet Urgences	italian
ORPHA:37202	Interstitial cystitis Bladder pain syndrome Painful bladder syndrome IC/BPS Interstitial cystitis/bladder pain syndrome IC/PBS Interstitial cystitis/painful bladder syndrome	1 emergency guideline(s) Syndrome douloureux vésical Orphanet Urgences	french
ORPHA:37202	Interstitial cystitis Bladder pain syndrome Painful bladder syndrome IC/BPS Interstitial cystitis/bladder pain syndrome IC/PBS Interstitial cystitis/painful bladder syndrome	1 emergency guideline(s) Cistite interstiziale Orphanet Urgences	italian
ORPHA:35701	3-hydroxy-3-methylglutaryl-CoA synthase deficiency HMG-CoA synthase deficiency	1 emergency guideline(s) Medium chain fat oxidation disorders Brit Inher Metab Dis Group	english
ORPHA:36426	Stevens-Johnson syndrome Dermatostomatitis, Stevens Johnson type	1 emergency guideline(s) Nécrolyse épidermique Orphanet Urgences	french
ORPHA:36426	Stevens-Johnson syndrome Dermatostomatitis, Stevens Johnson type	1 emergency guideline(s) Epidermal necrolysis ERN-Skin	english
ORPHA:36426	Stevens-Johnson syndrome Dermatostomatitis, Stevens Johnson type	1 emergency guideline(s) Necrolisi epidermica tossica Orphanet Urgences	italian
ORPHA:34217	Naxos disease KWWH type I Keratoderma with woolly hair type I Keratosis palmoplantaris with arrythmogenic cardiomyopathy Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy Palmoplantar keratoderma with arrythmogenic cardiomyopathy Naxos syndrome	1 emergency guideline(s) Cardiomyopathie ventriculaire droite arythmogène (CVDA) Orphanet Urgences	french
ORPHA:33110	Autosomal non-syndromic agammaglobulinemia Non-syndromic agammaglobulinemia, non-Bruton type Non-syndromic hypogammaglobulinemia	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:33069	Dravet syndrome SMEI Severe myoclonic epilepsy of infancy Severe myoclonus epilepsy of infancy	1 emergency guideline(s) Syndrome de Dravet Orphanet Urgences	french
ORPHA:33069	Dravet syndrome SMEI Severe myoclonic epilepsy of infancy Severe myoclonus epilepsy of infancy	1 emergency guideline(s) Ciezka miokloniczna padaczka niemowlat Orphanet Urgences	polish
ORPHA:33069	Dravet syndrome SMEI Severe myoclonic epilepsy of infancy Severe myoclonus epilepsy of infancy	1 emergency guideline(s) Severe myoclonic epilepsy in infancy Orphanet Urgences	english
ORPHA:33069	Dravet syndrome SMEI Severe myoclonic epilepsy of infancy Severe myoclonus epilepsy of infancy	1 emergency guideline(s) Epilessia mioclonica grave del neonato Orphanet Urgences	italian
ORPHA:33069	Dravet syndrome SMEI Severe myoclonic epilepsy of infancy Severe myoclonus epilepsy of infancy	1 emergency guideline(s) Epilepsia mioclonica grave da infancia Orphanet Urgences	portuguese
ORPHA:34587	Danon disease GSD due to LAMP-2 deficiency Glycogenosis due to LAMP-2 deficiency Lysosomal glycogen storage disease with normal acid maltase activity GSD, type 2B GSD, type IIb Glycogen storage disease, type IIb Glycogen storage disease, type 2B Glycogen storage disease due to LAMP-2 deficiency	1 emergency guideline(s) Cardiomyopathie hypertrophique Orphanet Urgences	french
ORPHA:537072	PLG-related hereditary angioedema with normal C1Inh PLG-related HAE with normal C1 inhibitor	1 emergency guideline(s) Angioedème bradykinique Orphanet Urgences	french
ORPHA:537072	PLG-related hereditary angioedema with normal C1Inh PLG-related HAE with normal C1 inhibitor	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:537072	PLG-related hereditary angioedema with normal C1Inh PLG-related HAE with normal C1 inhibitor	1 emergency guideline(s) Nicht-histaminvermitteltes Angioödem Orphanet Urgences	german
ORPHA:537072	PLG-related hereditary angioedema with normal C1Inh PLG-related HAE with normal C1 inhibitor	1 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:537072	PLG-related hereditary angioedema with normal C1Inh PLG-related HAE with normal C1 inhibitor	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:537072	PLG-related hereditary angioedema with normal C1Inh PLG-related HAE with normal C1 inhibitor	1 emergency guideline(s) Angioedema non istaminico Orphanet Urgences	italian
ORPHA:537072	PLG-related hereditary angioedema with normal C1Inh PLG-related HAE with normal C1 inhibitor	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:52530	Pseudo-von Willebrand disease PT-VWD Pseudo-von Willebrand disease type 2B Platelet type-von Willebrand disease	1 emergency guideline(s) Maladie de von Willebrand Orphanet Urgences	french
ORPHA:52759	Vasculitis Systemic vasculitis	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:53721	Spinal arteriovenous metameric syndrome Cutaneomeningospinal angiomatosis SAMS 1-31 Cobb syndrome	1 emergency guideline(s) Malformations artérioveineuses médullaires Orphanet Urgences	french
ORPHA:48435	Postinfectious vasculitis	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:216	Neuronal ceroid lipofuscinosis NCL NCL disease CLN disease	1 emergency guideline(s) Epilepsies myocloniques progressives (EMP) Orphanet Urgences	french
ORPHA:364	Glycogen storage disease due to glucose-6-phosphatase deficiency G6P deficiency GSD due to G6P deficiency GSD type 1 Glycogen storage disease due to G6P deficiency Glycogen storage disease type 1 Glycogenosis type 1 Hepatorenal glycogenosis Von Gierke disease GSD type I Glycogen storage disease type I Glycogenosis type I	1 emergency guideline(s) Glycogenosis due to glucose 6 phosphatase deficiency Brit Inher Metab Dis Group	english
ORPHA:448	Hemophilia	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:448	Hemophilia	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:448	Hemophilia	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:304	Epidermolysis bullosa simplex EBS	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:589	Myasthenia gravis Acquired myasthenia Autoimmune myasthenia gravis	1 emergency guideline(s) Myasthénie autoimmune Orphanet Urgences	french
ORPHA:589	Myasthenia gravis Acquired myasthenia Autoimmune myasthenia gravis	1 emergency guideline(s) Miastenia Orphanet Urgences	polish
ORPHA:589	Myasthenia gravis Acquired myasthenia Autoimmune myasthenia gravis	1 emergency guideline(s) Myasthenia gravis Orphanet Urgences	german
ORPHA:589	Myasthenia gravis Acquired myasthenia Autoimmune myasthenia gravis	1 emergency guideline(s) Autoimmune myasthenia Orphanet Urgences	english
ORPHA:589	Myasthenia gravis Acquired myasthenia Autoimmune myasthenia gravis	1 emergency guideline(s) Miastenia autoinmune Orphanet Urgences	spanish
ORPHA:589	Myasthenia gravis Acquired myasthenia Autoimmune myasthenia gravis	1 emergency guideline(s) Miastenia autoimmune Orphanet Urgences	italian
ORPHA:805	Tuberous sclerosis complex Bourneville syndrome Tuberous sclerosis	1 emergency guideline(s) Sclérose tubéreuse de Bourneville Orphanet Urgences	french
ORPHA:805	Tuberous sclerosis complex Bourneville syndrome Tuberous sclerosis	1 emergency guideline(s) Stwardnienie guzowate Orphanet Urgences	polish
ORPHA:805	Tuberous sclerosis complex Bourneville syndrome Tuberous sclerosis	1 emergency guideline(s) Tuberöse Sklerose Orphanet Urgences	german
ORPHA:805	Tuberous sclerosis complex Bourneville syndrome Tuberous sclerosis	1 emergency guideline(s) Tuberous sclerosis Orphanet Urgences	english
ORPHA:805	Tuberous sclerosis complex Bourneville syndrome Tuberous sclerosis	1 emergency guideline(s) Esclerosis tuberosa de Bourneville Orphanet Urgences	spanish
ORPHA:805	Tuberous sclerosis complex Bourneville syndrome Tuberous sclerosis	1 emergency guideline(s) Sclerosi tuberosa di Bourneville Orphanet Urgences	italian
ORPHA:805	Tuberous sclerosis complex Bourneville syndrome Tuberous sclerosis	1 emergency guideline(s) Esclerose tuberosa Orphanet Urgences	portuguese
ORPHA:768	Congenital long QT syndrome Congenital LQTS	1 emergency guideline(s) Syndrome du QT long Orphanet Urgences	french
ORPHA:768	Congenital long QT syndrome Congenital LQTS	1 emergency guideline(s) Familiäres Long QT-Syndrom Orphanet Urgences	german
ORPHA:768	Congenital long QT syndrome Congenital LQTS	1 emergency guideline(s) Síndrome de QT largo familiar Orphanet Urgences	spanish
ORPHA:768	Congenital long QT syndrome Congenital LQTS	2 emergency guideline(s) Sindrome familiare del QT lungo Orphanet Urgences Sindrome del QT lungo Orphanet Urgences	italian
ORPHA:768	Congenital long QT syndrome Congenital LQTS	1 emergency guideline(s) Síndrome do QT longo familiar Orphanet Urgences	portuguese
ORPHA:183	Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome EGPA Granulomatous allergic angiitis	1 emergency guideline(s) Syndromes hyperéosinophiliques Orphanet Urgences	french
ORPHA:2131	Alternating hemiplegia of childhood AHC	1 emergency guideline(s) Hémiplégie alternante de lenfance Orphanet Urgences	french
ORPHA:249	Fibrous dysplasia of bone	1 emergency guideline(s) Dysplasie fibreuse des os Orphanet Urgences	french
ORPHA:249	Fibrous dysplasia of bone	1 emergency guideline(s) Displasia ósea fibrosa Orphanet Urgences	spanish
ORPHA:187	Citrullinemia	1 emergency guideline(s) Déficits du cycle de lurée Orphanet Urgences	french
ORPHA:187	Citrullinemia	1 emergency guideline(s) Hyperammonemia due to citrullinemia or argininosuccinic aciduria Brit Inher Metab Dis Group	english
ORPHA:134	Beta-ketothiolase deficiency 3-ketothiolase deficiency 3-oxothiolase deficiency Alpha methylacetoacetic aciduria Alpha-methyl-acetoacetyl-CoA thiolase deficiency Mitochondrial acetoacetyl-coenzyme A thiolase deficiency T2 deficiency	1 emergency guideline(s) Defects of ketone metabolism Brit Inher Metab Dis Group	english
ORPHA:511	Maple syrup urine disease BCKD deficiency BCKDH deficiency Branched-chain 2-ketoacid dehydrogenase deficiency Branched-chain ketoaciduria MSUD	3 emergency guideline(s) Leucinose (MSUD) G2M Coma et maladies héréditaires du métabolisme G2M Maladie des urines sirop d'érable Orphanet Urgences	french
ORPHA:511	Maple syrup urine disease BCKD deficiency BCKDH deficiency Branched-chain 2-ketoacid dehydrogenase deficiency Branched-chain ketoaciduria MSUD	3 emergency guideline(s) Maple syrup urine disease (MSUD) G2M COMA and inherited metabolic diseases (new patient) G2M Maple syrup urine disease Brit Inher Metab Dis Group	english
ORPHA:32	Glutathione synthetase deficiency Pyroglutamicaciduria	1 emergency guideline(s) Protocole d'urgence - Déficit en glutathion synthétase G2M	french
ORPHA:797	Sarcoidosis Besnier-Boeck-Schaumann disease Boeck sarcoid	1 emergency guideline(s) Sarcoïdose Orphanet Urgences	french
ORPHA:92	Juvenile idiopathic arthritis Juvenile chronic arthritis Juvenile rheumatoid arthritis	1 emergency guideline(s) Arthrite idiopathique juvénile systémique Orphanet Urgences	french
ORPHA:1199	Esophageal atresia CEA Congenital esophageal atresia Oesophageal atresia Esophageal atresia with or without trachea-esophageal fistula EA/TEF	1 emergency guideline(s) Atrésie de l'oesophage Orphanet Urgences	french
ORPHA:1199	Esophageal atresia CEA Congenital esophageal atresia Oesophageal atresia Esophageal atresia with or without trachea-esophageal fistula EA/TEF	1 emergency guideline(s) Atresia dellesofago Orphanet Urgences	italian
ORPHA:171851	MEDNIK syndrome Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:486	Autosomal dominant severe congenital neutropenia	1 emergency guideline(s) Neutropénie constitutionnelle sévère Orphanet Urgences	french
ORPHA:486	Autosomal dominant severe congenital neutropenia	1 emergency guideline(s) Schwere konstitutionelle Neutropenie Orphanet Urgences	german
ORPHA:486	Autosomal dominant severe congenital neutropenia	1 emergency guideline(s) Neutropenia constitucional grave Orphanet Urgences	spanish
ORPHA:486	Autosomal dominant severe congenital neutropenia	1 emergency guideline(s) Neutropenia costituzionale grave Orphanet Urgences	italian
ORPHA:3287	Takayasu arteritis	1 emergency guideline(s) Artérite de Takayasu Orphanet Urgences	french
ORPHA:2331	Kawasaki disease Mucocutaneous lymph node syndrome	1 emergency guideline(s) Maladie de Kawasaki Orphanet Urgences	french
ORPHA:3002	Immune thrombocytopenia ITP Immune thrombocytopenic purpura	1 emergency guideline(s) Purpura thrombopénique immunologique Orphanet Urgences	french
ORPHA:3002	Immune thrombocytopenia ITP Immune thrombocytopenic purpura	1 emergency guideline(s) Púrpura trombocitopénica inmune Orphanet Urgences	spanish
ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HHH syndrome ORNT1 deficiency Ornithine carrier deficiency Triple H syndrome Ornithine translocase deficiency	1 emergency guideline(s) Déficits du cycle de lurée Orphanet Urgences	french
ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HHH syndrome ORNT1 deficiency Ornithine carrier deficiency Triple H syndrome Ornithine translocase deficiency	1 emergency guideline(s) Hyperammonaemia due to transport defects Brit Inher Metab Dis Group	english
ORPHA:2134	Atypical hemolytic uremic syndrome Atypical HUS aHUS	1 emergency guideline(s) Microangiopathies thrombotiques Orphanet Urgences	french
ORPHA:2382	Lennox-Gastaut syndrome	1 emergency guideline(s) Syndrome de Lennox-Gastaut Orphanet Urgences	french
ORPHA:2382	Lennox-Gastaut syndrome	1 emergency guideline(s) Sindrome di Lennox-Gastaut Orphanet Urgences	italian
ORPHA:2467	Systemic mastocytosis	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:845	Tay-Sachs disease Beta-hexosaminidase subunit alpha deficiency GM2 gangliosidosis, Tay-Sachs variant GM2 gangliosidosis, hexosaminidase A deficiency variant HEXA disorder	1 emergency guideline(s) Gangliosidoses à GM2 Orphanet Urgences	french
ORPHA:397	Giant cell arteritis Horton disease Temporal arteritis	1 emergency guideline(s) Artérite à cellules géantes Orphanet Urgences	french
ORPHA:397	Giant cell arteritis Horton disease Temporal arteritis	1 emergency guideline(s) Arteritis de células gigantes Orphanet Urgences	spanish
ORPHA:183669	Agammaglobulinemia	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:183666	Hyper-IgM syndrome without susceptibility to opportunistic infections HIGM without susceptibility to opportunistic infections	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:2070	Eosinophilic gastroenteritis EGE Eosinophilic enteritis Eosinophilic gastroenterocolitis	1 emergency guideline(s) Syndromes hyperéosinophiliques Orphanet Urgences	french
ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency IgG subclass deficiency with IgA subclass deficiency Isolated IgG subclass deficiency Kappa-chain deficiency Selective IgG subclass deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:676	Autosomal dominant hereditary chronic pancreatitis	1 emergency guideline(s) Pancréatite chronique héréditaire Orphanet Urgences	french
ORPHA:676	Autosomal dominant hereditary chronic pancreatitis	1 emergency guideline(s) Pancreatitis crónica hereditaria Orphanet Urgences	spanish
ORPHA:183589	Genetic thrombotic microangiopathy	1 emergency guideline(s) Microangiopathies thrombotiques Orphanet Urgences	french
ORPHA:638	Neurofibromatosis-Noonan syndrome NFNS Neurofibromatosis type 1-Noonan syndrome	1 emergency guideline(s) Neurofibromatose type 1 Orphanet Urgences	french
ORPHA:342	Familial Mediterranean fever Benign paroxysmal peritonitis Benign recurrent polyserositis FMF Familial paroxysmal polyserositis Periodic disease	1 emergency guideline(s) Fièvre méditerranéenne familiale Orphanet Urgences	french
ORPHA:342	Familial Mediterranean fever Benign paroxysmal peritonitis Benign recurrent polyserositis FMF Familial paroxysmal polyserositis Periodic disease	1 emergency guideline(s) Familiäres Mittelmeerfieber Orphanet Urgences	german
ORPHA:342	Familial Mediterranean fever Benign paroxysmal peritonitis Benign recurrent polyserositis FMF Familial paroxysmal polyserositis Periodic disease	1 emergency guideline(s) Familial Mediterranean fever Orphanet Urgences	english
ORPHA:342	Familial Mediterranean fever Benign paroxysmal peritonitis Benign recurrent polyserositis FMF Familial paroxysmal polyserositis Periodic disease	1 emergency guideline(s) Fiebre mediterránea familiar Orphanet Urgences	spanish
ORPHA:342	Familial Mediterranean fever Benign paroxysmal peritonitis Benign recurrent polyserositis FMF Familial paroxysmal polyserositis Periodic disease	1 emergency guideline(s) Febbre mediterranea familiare Orphanet Urgences	italian
ORPHA:342	Familial Mediterranean fever Benign paroxysmal peritonitis Benign recurrent polyserositis FMF Familial paroxysmal polyserositis Periodic disease	1 emergency guideline(s) Febre mediterrânica familiar Orphanet Urgences	portuguese
ORPHA:157	Carnitine palmitoyltransferase II deficiency CPT2 CPTII Carnitine palmitoyltransferase deficiency type 2	5 emergency guideline(s) Hypoglycémie aux urgences chez un patient non connu G2M Présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) G2M Rhabdomyolyse aux urgences patient non connu G2M Hypoglycémie récidivante chez patient non connu G2M Déficits oxydation acides gras : VLCAD, LCHAD, CPT2, Translocase, Trifonctionnelle, Acidurie Glutarique de type 2 (AG2) G2M	french
ORPHA:183435	Inherited ichthyosis Genetic ichthyosis	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy CADASIL Hereditary multi-infarct dementia	1 emergency guideline(s) CADASIL Orphanet Urgences	french
ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy CADASIL Hereditary multi-infarct dementia	1 emergency guideline(s) CADASIL Orphanet Urgences	spanish
ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy CADASIL Hereditary multi-infarct dementia	1 emergency guideline(s) CADASIL Orphanet Urgences	italian
ORPHA:182090	Pulmonary arterial hypertension PAH	1 emergency guideline(s) Hypertension artérielle pulmonaire Orphanet Urgences	french
ORPHA:182101	Idiopathic eosinophilic pneumonia	1 emergency guideline(s) Syndromes hyperéosinophiliques Orphanet Urgences	french
ORPHA:182040	Rare aplastic anemia	1 emergency guideline(s) Aplasie médullaire Orphanet Urgences	french
ORPHA:657	Congenital isolated hyperinsulinism PHHI Persistent hyperinsulinemic hypoglycemia of infancy	3 emergency guideline(s) Hypoglycémie aux urgences chez un patient non connu G2M Hyperinsulinisme G2M Hypoglycémie récidivante chez patient non connu G2M	french
ORPHA:657	Congenital isolated hyperinsulinism PHHI Persistent hyperinsulinemic hypoglycemia of infancy	3 emergency guideline(s) Hypoglycaemia in A&E (no diagnosis known) G2M Hyperinsulinism G2M Recurrent undiagnosed hypoglycaemia G2M	english
ORPHA:569	Familial or sporadic hemiplegic migraine	1 emergency guideline(s) Migraine hèmiplégique Orphanet Urgences	french
ORPHA:569	Familial or sporadic hemiplegic migraine	1 emergency guideline(s) Hemiplegische Migräne Orphanet Urgences	german
ORPHA:569	Familial or sporadic hemiplegic migraine	1 emergency guideline(s) Hemiplegic Migraine (HM) Orphanet Urgences	english
ORPHA:569	Familial or sporadic hemiplegic migraine	1 emergency guideline(s) Migraña hemipléjica (MH) Orphanet Urgences	spanish
ORPHA:569	Familial or sporadic hemiplegic migraine	1 emergency guideline(s) Emicrania emiplegica Orphanet Urgences	italian
ORPHA:569	Familial or sporadic hemiplegic migraine	1 emergency guideline(s) Enxaqueca Hemiplégica (HM) Orphanet Urgences	portuguese
ORPHA:27	Vitamin B12-unresponsive methylmalonic acidemia Methylmalonyl-Coenzyme A mutase deficiency Vitamin B12-unresponsive methylmalonic aciduria Methylmalonyl-CoA mutase deficiency	1 emergency guideline(s) Methylmalonic acidemia Brit Inher Metab Dis Group	english
ORPHA:156	Carnitine palmitoyl transferase 1A deficiency CPT1A deficiency Carnitine palmitoyl transferase IA deficiency Hepatic carnitine palmitoyl transferase 1 deficiency Hepatic carnitine palmitoyl transferase I deficiency L-CPT1 deficiency L-CPTI deficiency	1 emergency guideline(s) Medium chain fat oxidation disorders Brit Inher Metab Dis Group	english
ORPHA:137625	Glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogenosis due to muscle and heart glycogen synthase deficiency Glycogenosis type 0b GSD due to muscle and heart glycogen synthase deficiency GSD type 0b Glycogen storage disease type 0b	3 emergency guideline(s) Glycogénoses types 0 - 6 - 9 G2M Hypoglycémie aux urgences chez un patient non connu G2M Hypoglycémie récidivante chez patient non connu G2M	french
ORPHA:137667	Capillary malformation-arteriovenous malformation CM-AVM	1 emergency guideline(s) Malformations artérioveineuses médullaires Orphanet Urgences	french
ORPHA:141189	Cerebrofacial arteriovenous metameric syndrome CAMS	1 emergency guideline(s) Malformation artérioveineuse cérébrale Orphanet Urgences	french
ORPHA:156146	Predominantly small-vessel vasculitis	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:156143	Predominantly medium-vessel vasculitis	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:156152	Anti-neutrophil cytoplasmic antibody-associated vasculitis AAV ANCA-associated vasculitis Antineutrophil cytoplasmic antibody-associated vasculitis	1 emergency guideline(s) Vascularites nécrosantes systémiques Orphanet Urgences	french
ORPHA:99845	Genetic recurrent myoglobinuria	2 emergency guideline(s) Rhabdomyolyse aux urgences patient non connu G2M Rhabdomyolyse par déficit en lipin-1 (LPIN1) G2M	french
ORPHA:617930	Hemophilia B Leyden Factor IX deficiency, Leyden type F9 deficiency, Leyden type	1 emergency guideline(s) Hémophilie Orphanet Urgences	french
ORPHA:617930	Hemophilia B Leyden Factor IX deficiency, Leyden type F9 deficiency, Leyden type	1 emergency guideline(s) Hämophilie Orphanet Urgences	german
ORPHA:617930	Hemophilia B Leyden Factor IX deficiency, Leyden type F9 deficiency, Leyden type	1 emergency guideline(s) Emofilia Orphanet Urgences	italian
ORPHA:51636	WHIM syndrome WILM Warts-hypogammaglobulinemia-infections-myelokathexis syndrome Warts-infections-leukopenia-myelokatexis syndrome	1 emergency guideline(s) Neutropénie constitutionnelle sévère Orphanet Urgences	french
ORPHA:51636	WHIM syndrome WILM Warts-hypogammaglobulinemia-infections-myelokathexis syndrome Warts-infections-leukopenia-myelokatexis syndrome	1 emergency guideline(s) Schwere konstitutionelle Neutropenie Orphanet Urgences	german
ORPHA:51636	WHIM syndrome WILM Warts-hypogammaglobulinemia-infections-myelokathexis syndrome Warts-infections-leukopenia-myelokatexis syndrome	1 emergency guideline(s) Neutropenia constitucional grave Orphanet Urgences	spanish
ORPHA:51636	WHIM syndrome WILM Warts-hypogammaglobulinemia-infections-myelokathexis syndrome Warts-infections-leukopenia-myelokatexis syndrome	1 emergency guideline(s) Neutropenia costituzionale grave Orphanet Urgences	italian
ORPHA:43116	Serotonin syndrome Serotonergic syndrome Serotonin storm Serotonin toxicity Serotonin toxidrome	1 emergency guideline(s) Syndrome sérotoninergique Orphanet Urgences	french
ORPHA:42738	Severe congenital neutropenia	1 emergency guideline(s) Neutropénie constitutionnelle sévère Orphanet Urgences	french
ORPHA:42738	Severe congenital neutropenia	1 emergency guideline(s) Schwere konstitutionelle Neutropenie Orphanet Urgences	german
ORPHA:42738	Severe congenital neutropenia	1 emergency guideline(s) Neutropenia constitucional grave Orphanet Urgences	spanish
ORPHA:42738	Severe congenital neutropenia	1 emergency guideline(s) Neutropenia costituzionale grave Orphanet Urgences	italian
ORPHA:542657	Isolated hyperchlorhidrosis Carbonic anhydrase XII deficiency	1 emergency guideline(s) Déficit en Anhydrase carbonique G2M	french
ORPHA:46724	Brain arteriovenous malformation Cerebral arteriovenous malformation	1 emergency guideline(s) Malformation artérioveineuse cérébrale Orphanet Urgences	french
ORPHA:47045	Familial cold urticaria FCAS FCU Familial cold autoinflammatory syndrome	1 emergency guideline(s) Syndrome périodique associé à la cryopyrine (CAPS) Orphanet Urgences	french
ORPHA:68380	Mitochondrial disease	2 emergency guideline(s) Maladie mitochondriale - Cytopathie mitochondriale G2M Coma et maladies héréditaires du métabolisme G2M	french
ORPHA:68380	Mitochondrial disease	2 emergency guideline(s) Mitochondrial disease - mitochondrial cytopathy G2M COMA and inherited metabolic diseases (new patient) G2M	english
ORPHA:68383	Rare constitutional aplastic anemia	1 emergency guideline(s) Aplasie médullaire Orphanet Urgences	french
ORPHA:90053	Complications after hematopoietic stem cell transplantation Complications after HSCT	1 emergency guideline(s) Personnes allogreffées de cellules souches hématopoïétiques Orphanet Urgences	french
ORPHA:90038	Shiga toxin-associated hemolytic uremic syndrome Typical HUS Typical hemolytic uremic syndrome Shiga-like toxin-associated HUS D+ HUS Stx-HUS Hemolytic uremic syndrome with diarrhea Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli STEC-HUS EHEC-HUS	1 emergency guideline(s) Microangiopathies thrombotiques Orphanet Urgences	french
ORPHA:89843	Dystrophic epidermolysis bullosa pruriginosa DEB pruriginosa DEB-Pr Pruriginous dystrophic epidermolysis bullosa	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form Generalized RDEB, intermediate form Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis RDEB, non-Hallopeau-Siemens type Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:90340	Blau syndrome	1 emergency guideline(s) Sarcoïdose Orphanet Urgences	french
ORPHA:90291	Systemic sclerosis Systemic scleroderma	1 emergency guideline(s) Sclérodermie systémique Orphanet Urgences	french
ORPHA:90291	Systemic sclerosis Systemic scleroderma	1 emergency guideline(s) Systemische Sklerodermie Orphanet Urgences	german
ORPHA:90291	Systemic sclerosis Systemic scleroderma	1 emergency guideline(s) Esclerodermia sistémica Orphanet Urgences	spanish
ORPHA:90291	Systemic sclerosis Systemic scleroderma	1 emergency guideline(s) Sclerodermia sistemica Orphanet Urgences	italian
ORPHA:90308	Capillary-lymphatic-venous malformation with segmental distribution CLVM with segmental distribution Klippel-Trénaunay syndrome KTS	1 emergency guideline(s) Syndrome angio-ostéo-hypertrophique Orphanet Urgences	french
ORPHA:90307	Parkes Weber syndrome	1 emergency guideline(s) Malformations artérioveineuses médullaires Orphanet Urgences	french
ORPHA:87876	Sialidosis type 2 Infantile dysmorphic sialidosis	1 emergency guideline(s) Epilepsies myocloniques progressives (EMP) Orphanet Urgences	french
ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex Autosomal recessive generalized EBS	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:93276	Polyostotic fibrous dysplasia	1 emergency guideline(s) Dysplasie fibreuse des os Orphanet Urgences	french
ORPHA:93276	Polyostotic fibrous dysplasia	1 emergency guideline(s) Displasia ósea fibrosa Orphanet Urgences	spanish
ORPHA:93277	Monostotic fibrous dysplasia Jaffe-Lichtenstein disease	1 emergency guideline(s) Dysplasie fibreuse des os Orphanet Urgences	french
ORPHA:93277	Monostotic fibrous dysplasia Jaffe-Lichtenstein disease	1 emergency guideline(s) Displasia ósea fibrosa Orphanet Urgences	spanish
ORPHA:527468	Diaphragmatic hernia-short bowel-asplenia syndrome	1 emergency guideline(s) Hernie de coupole diaphragmatique Orphanet Urgences	french
ORPHA:90389	Telangiectasia macularis eruptiva perstans	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:90647	Jervell and Lange-Nielsen syndrome Long QT interval-deafness syndrome Long QT interval-hearing loss syndrome	1 emergency guideline(s) Syndrome du QT long Orphanet Urgences	french
ORPHA:90647	Jervell and Lange-Nielsen syndrome Long QT interval-deafness syndrome Long QT interval-hearing loss syndrome	1 emergency guideline(s) Síndrome de QT largo familiar Orphanet Urgences	spanish
ORPHA:90647	Jervell and Lange-Nielsen syndrome Long QT interval-deafness syndrome Long QT interval-hearing loss syndrome	2 emergency guideline(s) Sindrome del QT lungo Orphanet Urgences Sindrome familiare del QT lungo Orphanet Urgences	italian
ORPHA:90647	Jervell and Lange-Nielsen syndrome Long QT interval-deafness syndrome Long QT interval-hearing loss syndrome	1 emergency guideline(s) Síndrome do QT longo familiar Orphanet Urgences	portuguese
ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection Familial TAAD FTAAD Familial non-syndromic thoracic aortic aneurysm and aortic dissection Non-syndromic heritable thoracic aortic disease Hereditary thoracic aortic aneurysm and aortic dissection Hereditary TAAD	1 emergency guideline(s) Syndrome de Marfan et syndromes apparentés Orphanet Urgences	french
ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection Familial TAAD FTAAD Familial non-syndromic thoracic aortic aneurysm and aortic dissection Non-syndromic heritable thoracic aortic disease Hereditary thoracic aortic aneurysm and aortic dissection Hereditary TAAD	1 emergency guideline(s) Zespol Marfana Orphanet Urgences	polish
ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection Familial TAAD FTAAD Familial non-syndromic thoracic aortic aneurysm and aortic dissection Non-syndromic heritable thoracic aortic disease Hereditary thoracic aortic aneurysm and aortic dissection Hereditary TAAD	1 emergency guideline(s) Marfan-Syndrom Orphanet Urgences	german
ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection Familial TAAD FTAAD Familial non-syndromic thoracic aortic aneurysm and aortic dissection Non-syndromic heritable thoracic aortic disease Hereditary thoracic aortic aneurysm and aortic dissection Hereditary TAAD	1 emergency guideline(s) Marfan Syndrome Orphanet Urgences	english
ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection Familial TAAD FTAAD Familial non-syndromic thoracic aortic aneurysm and aortic dissection Non-syndromic heritable thoracic aortic disease Hereditary thoracic aortic aneurysm and aortic dissection Hereditary TAAD	1 emergency guideline(s) Síndrome de Marfan Orphanet Urgences	spanish
ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection Familial TAAD FTAAD Familial non-syndromic thoracic aortic aneurysm and aortic dissection Non-syndromic heritable thoracic aortic disease Hereditary thoracic aortic aneurysm and aortic dissection Hereditary TAAD	1 emergency guideline(s) Marfan (Sindrome di Marfan) Orphanet Urgences	italian
ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection Familial TAAD FTAAD Familial non-syndromic thoracic aortic aneurysm and aortic dissection Non-syndromic heritable thoracic aortic disease Hereditary thoracic aortic aneurysm and aortic dissection Hereditary TAAD	1 emergency guideline(s) Síndrome Marfan Orphanet Urgences	portuguese
ORPHA:91378	Hereditary angioedema Familial angioneurotic edema HAE Hereditary angioneurotic edema Hereditary bradykinine-induced angioedema Hereditary non histamine-induced angioedema	1 emergency guideline(s) Angioedème bradykinique Orphanet Urgences	french
ORPHA:91378	Hereditary angioedema Familial angioneurotic edema HAE Hereditary angioneurotic edema Hereditary bradykinine-induced angioedema Hereditary non histamine-induced angioedema	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:91378	Hereditary angioedema Familial angioneurotic edema HAE Hereditary angioneurotic edema Hereditary bradykinine-induced angioedema Hereditary non histamine-induced angioedema	1 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:91378	Hereditary angioedema Familial angioneurotic edema HAE Hereditary angioneurotic edema Hereditary bradykinine-induced angioedema Hereditary non histamine-induced angioedema	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:91378	Hereditary angioedema Familial angioneurotic edema HAE Hereditary angioneurotic edema Hereditary bradykinine-induced angioedema Hereditary non histamine-induced angioedema	1 emergency guideline(s) Angioedema non istaminico Orphanet Urgences	italian
ORPHA:91378	Hereditary angioedema Familial angioneurotic edema HAE Hereditary angioneurotic edema Hereditary bradykinine-induced angioedema Hereditary non histamine-induced angioedema	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:91385	Acquired angioedema AAE Acquired C1 inhibitor deficiency Acquired angioneurotic edema Acquired bradykinine-induced angioedema Acquired non histamine-induced angioedema	1 emergency guideline(s) Angioedème bradykinique Orphanet Urgences	french
ORPHA:91385	Acquired angioedema AAE Acquired C1 inhibitor deficiency Acquired angioneurotic edema Acquired bradykinine-induced angioedema Acquired non histamine-induced angioedema	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:91385	Acquired angioedema AAE Acquired C1 inhibitor deficiency Acquired angioneurotic edema Acquired bradykinine-induced angioedema Acquired non histamine-induced angioedema	1 emergency guideline(s) Nicht-histaminvermitteltes Angioödem Orphanet Urgences	german
ORPHA:91385	Acquired angioedema AAE Acquired C1 inhibitor deficiency Acquired angioneurotic edema Acquired bradykinine-induced angioedema Acquired non histamine-induced angioedema	1 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:91385	Acquired angioedema AAE Acquired C1 inhibitor deficiency Acquired angioneurotic edema Acquired bradykinine-induced angioedema Acquired non histamine-induced angioedema	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:91385	Acquired angioedema AAE Acquired C1 inhibitor deficiency Acquired angioneurotic edema Acquired bradykinine-induced angioedema Acquired non histamine-induced angioedema	1 emergency guideline(s) Angioedema non istaminico Orphanet Urgences	italian
ORPHA:91385	Acquired angioedema AAE Acquired C1 inhibitor deficiency Acquired angioneurotic edema Acquired bradykinine-induced angioedema Acquired non histamine-induced angioedema	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:91131	DK1-CDG Dolichol kinase deficiency Hypotonia and ichthyosis due to dolichol phosphate deficiency CDG syndrome type Im CDG-Im CDG1M Carbohydrate deficient glycoprotein syndrome type Im Congenital disorder of glycosylation type 1m Congenital disorder of glycosylation type Im	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:91132	Ichthyosis-hypotrichosis syndrome Hypotrichosis-congenital ichthyosis syndrome IFAH syndrome IHS Ichthyosis-follicular atrophoderma-hypotrichosis syndrome Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:91138	Cryoglobulinemic vasculitis Essential cryoglobulinemia Essential mixed cryoglobulinemia Mixed cryoglobulinemia Primary cryoglobulinemia	1 emergency guideline(s) Vascularite cryoglobulinémique Orphanet Urgences	french
ORPHA:91140	Unspecified juvenile idiopathic arthritis Unspecified JIA	1 emergency guideline(s) Arthrite idiopathique juvénile systémique Orphanet Urgences	french
ORPHA:528623	Hereditary angioedema with C1Inh deficiency HAE with C1Inh deficiency Hereditary angioneurotic edema with C1 inhibitor deficiency HAE with C1 inhibitor deficiency Hereditary angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Angidème bradykinique Orphanet Urgences	french
ORPHA:528623	Hereditary angioedema with C1Inh deficiency HAE with C1Inh deficiency Hereditary angioneurotic edema with C1 inhibitor deficiency HAE with C1 inhibitor deficiency Hereditary angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:528623	Hereditary angioedema with C1Inh deficiency HAE with C1Inh deficiency Hereditary angioneurotic edema with C1 inhibitor deficiency HAE with C1 inhibitor deficiency Hereditary angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Nicht-histaminvermitteltes Angioödem Orphanet Urgences	german
ORPHA:528623	Hereditary angioedema with C1Inh deficiency HAE with C1Inh deficiency Hereditary angioneurotic edema with C1 inhibitor deficiency HAE with C1 inhibitor deficiency Hereditary angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:528623	Hereditary angioedema with C1Inh deficiency HAE with C1Inh deficiency Hereditary angioneurotic edema with C1 inhibitor deficiency HAE with C1 inhibitor deficiency Hereditary angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:528623	Hereditary angioedema with C1Inh deficiency HAE with C1Inh deficiency Hereditary angioneurotic edema with C1 inhibitor deficiency HAE with C1 inhibitor deficiency Hereditary angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:528647	Hereditary angioedema with normal C1Inh HAE with normal C1Inh Hereditary angioneurotic edema with normal C1Inh Hereditary angioedema with normal C1 inhibitor Hereditary angioneurotic edema with normal C1 inhibitor HAE with normal C1 inhibitor	1 emergency guideline(s) Angioedème bradykinique Orphanet Urgences	french
ORPHA:528647	Hereditary angioedema with normal C1Inh HAE with normal C1Inh Hereditary angioneurotic edema with normal C1Inh Hereditary angioedema with normal C1 inhibitor Hereditary angioneurotic edema with normal C1 inhibitor HAE with normal C1 inhibitor	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:528647	Hereditary angioedema with normal C1Inh HAE with normal C1Inh Hereditary angioneurotic edema with normal C1Inh Hereditary angioedema with normal C1 inhibitor Hereditary angioneurotic edema with normal C1 inhibitor HAE with normal C1 inhibitor	1 emergency guideline(s) Nicht-histaminvermitteltes Angioödem Orphanet Urgences	german
ORPHA:528647	Hereditary angioedema with normal C1Inh HAE with normal C1Inh Hereditary angioneurotic edema with normal C1Inh Hereditary angioedema with normal C1 inhibitor Hereditary angioneurotic edema with normal C1 inhibitor HAE with normal C1 inhibitor	1 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:528647	Hereditary angioedema with normal C1Inh HAE with normal C1Inh Hereditary angioneurotic edema with normal C1Inh Hereditary angioedema with normal C1 inhibitor Hereditary angioneurotic edema with normal C1 inhibitor HAE with normal C1 inhibitor	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:528647	Hereditary angioedema with normal C1Inh HAE with normal C1Inh Hereditary angioneurotic edema with normal C1Inh Hereditary angioedema with normal C1 inhibitor Hereditary angioneurotic edema with normal C1 inhibitor HAE with normal C1 inhibitor	1 emergency guideline(s) Angioedema non istaminico Orphanet Urgences	italian
ORPHA:528647	Hereditary angioedema with normal C1Inh HAE with normal C1Inh Hereditary angioneurotic edema with normal C1Inh Hereditary angioedema with normal C1 inhibitor Hereditary angioneurotic edema with normal C1 inhibitor HAE with normal C1 inhibitor	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:528663	Acquired angioedema with C1Inh deficiency Acquired angioneurotic edema with C1 inhibitor deficiency Acquired angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Angioedème bradykinique Orphanet Urgences	french
ORPHA:528663	Acquired angioedema with C1Inh deficiency Acquired angioneurotic edema with C1 inhibitor deficiency Acquired angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:528663	Acquired angioedema with C1Inh deficiency Acquired angioneurotic edema with C1 inhibitor deficiency Acquired angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Nicht-histaminvermitteltes Angioödem Orphanet Urgences	german
ORPHA:528663	Acquired angioedema with C1Inh deficiency Acquired angioneurotic edema with C1 inhibitor deficiency Acquired angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Non histamine-induced angioedema Orphanet Urgences	english
ORPHA:528663	Acquired angioedema with C1Inh deficiency Acquired angioneurotic edema with C1 inhibitor deficiency Acquired angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Angioedema mediado por bradicinina Orphanet Urgences	spanish
ORPHA:528663	Acquired angioedema with C1Inh deficiency Acquired angioneurotic edema with C1 inhibitor deficiency Acquired angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Angioedema non istaminico Orphanet Urgences	italian
ORPHA:528663	Acquired angioedema with C1Inh deficiency Acquired angioneurotic edema with C1 inhibitor deficiency Acquired angioneurotic edema with C1Inh deficiency	1 emergency guideline(s) Angioderma nao induzido pela histamina Orphanet Urgences	portuguese
ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form Epidermolysis bullosa simplex, Dowling-Meara type Autosomal dominant generalized EBS, severe form Epidermolysis bullosa simplex herpetiformis	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation EBS-MP EBS with mottled pigmentation	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79394	Congenital ichthyosiform erythroderma CIE Erythrodermic ichthyosis Non-bullous congenital ichthyosiform erythroderma	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis Camisa disease Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome Loricrin keratoderma Vohwinkel syndrome with ichthyosis	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Köbner type Autosomal dominant generalized EBS, intermediate form	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement PLEC-related intermediate EBS without extracutaneous involvement	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79400	Localized epidermolysis bullosa simplex EBS-loc Epidermolysis bullosa simplex of palms and soles Epidermolysis bullosa simplex, Weber-Cockayne type Localized EBS	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia Carmi syndrome JEB-PA JEB with pyloric atresia	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa Generalized junctional epidermolysis bullosa, non-Herlitz type Intermediate generalized JEB Generalized atrophic benign epidermolysis bullosa Junctional epidermolysis bullosa generalisata mitis Junctional epidermolysis bullosa, Disentis type	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79405	Junctional epidermolysis bullosa inversa JEB inversa JEB-I	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79404	Severe generalized junctional epidermolysis bullosa Epidermolysis bullosa letalis JEB-H Junctional epidermolysis bullosa generalisata gravis Junctional epidermolysis bullosa, Herlitz-Pearson type Junctional epidermolysis bullosa, Herlitz type Severe generalized JEB	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79406	Late-onset junctional epidermolysis bullosa JEB-lo Epidermolysis bullosa progressiva Late-onset JEB	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa RDEB inversa RDEB-I	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type RDEB generalisata gravis RDEB, Hallopeau-Siemens type Generalized RDEB, severe form Severe generalized RDEB	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79411	Self-improving dystrophic epidermolysis bullosa Self-improving DEB Transient bullous dermolysis of the newborn	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79410	Localized dystrophic epidermolysis bullosa, pretibial form DEB-Pt Localized DEB, pretibial form	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79456	Diffuse cutaneous mastocytosis DCM Diffuse cutaneous maculopapulous mastocytosis	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:79457	Maculopapular cutaneous mastocytosis Urticaria pigmentosa	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:79473	Variegate porphyria Protoporphyrinogen oxidase deficiency Porphyria variegata	2 emergency guideline(s) Crise de porphyrie hépatique aiguë (Porphyrie aiguë intermittente, porphyrie variegata, coproporphyrie héréditaire) G2M Porphyrie hépatique aiguë Orphanet Urgences	french
ORPHA:79473	Variegate porphyria Protoporphyrinogen oxidase deficiency Porphyria variegata	1 emergency guideline(s) Ostre porfirie watrobowe, objawy nerwowo-trzewne Orphanet Urgences	polish
ORPHA:79473	Variegate porphyria Protoporphyrinogen oxidase deficiency Porphyria variegata	1 emergency guideline(s) Acute hepatic porphyria neuro-visceral crisis Orphanet Urgences	english
ORPHA:79473	Variegate porphyria Protoporphyrinogen oxidase deficiency Porphyria variegata	1 emergency guideline(s) Porfirias hepáticas agudas Orphanet Urgences	spanish
ORPHA:79473	Variegate porphyria Protoporphyrinogen oxidase deficiency Porphyria variegata	2 emergency guideline(s) Porfiria epatica acuta Orphanet Urgences Porfirie acute epatiche Orphanet Urgences	italian
ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib G6P translocase deficiency G6PT deficiency G6P deficiency type Ib GSD due to G6PT deficiency GSD due to G6P deficiency type Ib GSD type 1 non a GSD type 1b GSDIb Glycogen storage disease type 1b Glycogenosis due to glucose-6-phosphatase transport defect type Ib Glycogen storage disease due to G6P deficiency type Ib Glycogenosis type Ib GSD due to G6P deficiency type 1b GSD type Ib Glycogen storage disease type Ib Glycogenosis type 1b Glycogenosis due to glucose-6-phosphatase deficiency type 1b	4 emergency guideline(s) Hypoglycémie récidivante chez patient non connu G2M Glycogénose de type 1b G2M Chirurgies des glycogénoses Ia et Ib G2M Hypoglycémie aux urgences chez un patient non connu G2M	french
ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib G6P translocase deficiency G6PT deficiency G6P deficiency type Ib GSD due to G6PT deficiency GSD due to G6P deficiency type Ib GSD type 1 non a GSD type 1b GSDIb Glycogen storage disease type 1b Glycogenosis due to glucose-6-phosphatase transport defect type Ib Glycogen storage disease due to G6P deficiency type Ib Glycogenosis type Ib GSD due to G6P deficiency type 1b GSD type Ib Glycogen storage disease type Ib Glycogenosis type 1b Glycogenosis due to glucose-6-phosphatase deficiency type 1b	2 emergency guideline(s) Glycogen storage disease type 1b G2M Glycogenosis due to glucose 6 phosphatase deficiency type 1b Brit Inher Metab Dis Group	english
ORPHA:79258	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia G6P deficiency type 1a GSD type 1a GSD due to G6P deficiency type Ia GSDIa GSD due to G6P deficiency type 1a Glycogen storage disease type 1a Glycogenosis type Ia Glycogenosis due to glucose-6-phosphatase deficiency type 1a Glycogen storage disease due to G6P deficiency type Ia Glycogenosis due to glucose-6-phosphatase deficiency type Ia	4 emergency guideline(s) Chirurgies des glycogénoses Ia et Ib G2M Hypoglycémie récidivante chez patient non connu G2M Glycogénose de type 1a G2M Hypoglycémie aux urgences chez un patient non connu G2M	french
ORPHA:79258	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia G6P deficiency type 1a GSD type 1a GSD due to G6P deficiency type Ia GSDIa GSD due to G6P deficiency type 1a Glycogen storage disease type 1a Glycogenosis type Ia Glycogenosis due to glucose-6-phosphatase deficiency type 1a Glycogen storage disease due to G6P deficiency type Ia Glycogenosis due to glucose-6-phosphatase deficiency type Ia	4 emergency guideline(s) Glycogen storage disease type 1a G2M Recurrent undiagnosed hypoglycaemia G2M Hypoglycaemia in A&E (no diagnosis known) G2M Glycogenosis due to glucose 6 phosphatase deficiency Brit Inher Metab Dis Group	english
ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb Glycogen storage disease type 9B Glycogen storage disease type IXb Glycogenosis due to liver and muscle phosphorylase kinase deficiency Glycogenosis type 9B Glycogenosis type IXb	1 emergency guideline(s) Glycogénoses types 0 - 6 - 9 G2M	french
ORPHA:79241	Biotinidase deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency	1 emergency guideline(s) Biotinidase deficiency or holocarboxylase synthetase deficiency G2M	english
ORPHA:79239	Classic galactosemia GALT deficiency Galactose-1-phosphate uridyltransferase deficiency Galactosemia type 1	2 emergency guideline(s) Insuffisance hépatique néonatale G2M Galactosémie congénitale classique G2M	french
ORPHA:79242	Holocarboxylase synthetase deficiency Early-onset multiple carboxylase deficiency Neonatal multiple carboxylase deficiency	1 emergency guideline(s) Déficit en biotinidase / holocarboxylase synthétase G2M	french
ORPHA:79278	Autosomal erythropoietic protoporphyria EPP	1 emergency guideline(s) Porphyries cutanées tardives Orphanet Urgences	french
ORPHA:79278	Autosomal erythropoietic protoporphyria EPP	1 emergency guideline(s) Porfirie skorne Orphanet Urgences	polish
ORPHA:79278	Autosomal erythropoietic protoporphyria EPP	1 emergency guideline(s) Cutaneous porphyrias Orphanet Urgences	english
ORPHA:79278	Autosomal erythropoietic protoporphyria EPP	1 emergency guideline(s) Porfirias cutáneas Orphanet Urgences	spanish
ORPHA:79278	Autosomal erythropoietic protoporphyria EPP	1 emergency guideline(s) Porfirie cutanee Orphanet Urgences	italian
ORPHA:79278	Autosomal erythropoietic protoporphyria EPP	1 emergency guideline(s) Porfiria cutâneas Orphanet Urgences	portuguese
ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC CblC defect Cobalamin C defect Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC Methylmalonic aciduria with homocystinuria, type cblC	1 emergency guideline(s) Cobalamin C deficiency (cblC) G2M	english
ORPHA:79273	Hereditary coproporphyria	2 emergency guideline(s) Crise de porphyrie hépatique aiguë (Porphyrie aiguë intermittente, porphyrie variegata, coproporphyrie héréditaire) G2M Porphyrie hépatique aiguë Orphanet Urgences	french
ORPHA:79273	Hereditary coproporphyria	1 emergency guideline(s) Obrzek naczynioruchowy niehistaminowy Orphanet Urgences	polish
ORPHA:79273	Hereditary coproporphyria	1 emergency guideline(s) Acute hepatic porphyria neuro-visceral crisis Orphanet Urgences	english
ORPHA:79273	Hereditary coproporphyria	1 emergency guideline(s) Porfirias hepáticas agudas Orphanet Urgences	spanish
ORPHA:79273	Hereditary coproporphyria	2 emergency guideline(s) Porfiria epatica acuta Orphanet Urgences Porfirie acute epatiche Orphanet Urgences	italian
ORPHA:79276	Acute intermittent porphyria	1 emergency guideline(s) Porphyrie hépatique aiguë Orphanet Urgences	french
ORPHA:79276	Acute intermittent porphyria	1 emergency guideline(s) Ostre porfirie watrobowe, objawy nerwowo-trzewne Orphanet Urgences	polish
ORPHA:79276	Acute intermittent porphyria	1 emergency guideline(s) Acute hepatic porphyria neuro-visceral crisis Orphanet Urgences	english
ORPHA:79276	Acute intermittent porphyria	1 emergency guideline(s) Porfirias hepáticas agudas Orphanet Urgences	spanish
ORPHA:79276	Acute intermittent porphyria	2 emergency guideline(s) Porfiria epatica acuta Orphanet Urgences Porfirie acute epatiche Orphanet Urgences	italian
ORPHA:79277	Congenital erythropoietic porphyria CEP Günther disease	1 emergency guideline(s) Porphyries cutanées tardives Orphanet Urgences	french
ORPHA:79277	Congenital erythropoietic porphyria CEP Günther disease	1 emergency guideline(s) Porfirie skorne Orphanet Urgences	polish
ORPHA:79277	Congenital erythropoietic porphyria CEP Günther disease	1 emergency guideline(s) Cutaneous porphyrias Orphanet Urgences	english
ORPHA:79277	Congenital erythropoietic porphyria CEP Günther disease	1 emergency guideline(s) Porfirias cutáneas Orphanet Urgences	spanish
ORPHA:79277	Congenital erythropoietic porphyria CEP Günther disease	1 emergency guideline(s) Porfirie cutanee Orphanet Urgences	italian
ORPHA:79277	Congenital erythropoietic porphyria CEP Günther disease	1 emergency guideline(s) Porfiria cutâneas Orphanet Urgences	portuguese
ORPHA:79330	MOGS-CDG CDG syndrome type IIb CDG-IIb CDG2B Carbohydrate deficient glycoprotein syndrome type IIb Congenital disorder of glycosylation type 2b Congenital disorder of glycosylation type IIb Glucosidase 1 deficiency	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:79319	MPI-CDG CDG syndrome type Ib CDG-Ib CDG1B Carbohydrate deficient glycoprotein syndrome type Ib Congenital disorder of glycosylation type 1b Congenital disorder of glycosylation type Ib Phosphomannose isomerase deficiency	1 emergency guideline(s) MPI-CDG (CDG Ib) G2M	french
ORPHA:79319	MPI-CDG CDG syndrome type Ib CDG-Ib CDG1B Carbohydrate deficient glycoprotein syndrome type Ib Congenital disorder of glycosylation type 1b Congenital disorder of glycosylation type Ib Phosphomannose isomerase deficiency	1 emergency guideline(s) Patient with CDG syndrome 1b (MPI-CDG) G2M	english
ORPHA:79318	PMM2-CDG CDG syndrome type Ia CDG-Ia CDG1A Carbohydrate deficient glycoprotein syndrome type Ia Congenital disorder of glycosylation type 1a Congenital disorder of glycosylation type Ia Phosphomannomutase 2 deficiency	1 emergency guideline(s) PMM2-CDG (CDG Ia) G2M	french
ORPHA:79318	PMM2-CDG CDG syndrome type Ia CDG-Ia CDG1A Carbohydrate deficient glycoprotein syndrome type Ia Congenital disorder of glycosylation type 1a Congenital disorder of glycosylation type Ia Phosphomannomutase 2 deficiency	1 emergency guideline(s) Patient with CDG syndrome 1A (PMM2-CDG) G2M	english
ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut- Partial deficiency of methylmalonyl-CoA mutase Vitamin B12-unresponsive methylmalonic aciduria type mut-	1 emergency guideline(s) Methylmalonic acidemia Brit Inher Metab Dis Group	english
ORPHA:79310	Vitamin B12-responsive methylmalonic acidemia type cblA Vitamin B12-responsive methylmalonic aciduria type cblA	1 emergency guideline(s) Methylmalonic acidemia Brit Inher Metab Dis Group	english
ORPHA:79311	Vitamin B12-responsive methylmalonic acidemia type cblB Vitamin B12-responsive methylmalonic aciduria, type cblB	1 emergency guideline(s) Methylmalonic acidemia Brit Inher Metab Dis Group	english
ORPHA:79361	Inherited epidermolysis bullosa Epidermolysis bullosa hereditaria Hereditary epidermolysis bullosa	1 emergency guideline(s) Epidermolyses bulleuses héréditaires (EBH) Orphanet Urgences	french
ORPHA:79361	Inherited epidermolysis bullosa Epidermolysis bullosa hereditaria Hereditary epidermolysis bullosa	1 emergency guideline(s) Epidermolisi bollose (EB) ereditarie Orphanet Urgences	italian
ORPHA:79354	Ichthyosis	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:85410	Oligoarticular juvenile idiopathic arthritis Pauciarticular chronic arthritis Oligoarticular JIA	1 emergency guideline(s) Arthrite idiopathique juvénile systémique Orphanet Urgences	french
ORPHA:85414	Systemic-onset juvenile idiopathic arthritis Still disease Systemic-onset JIA	1 emergency guideline(s) Arthrite idiopathique juvénile systémique Orphanet Urgences	french
ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Juvenile polyarthritis without rheumatoid factor Juvenile rheumatoid factor-negative polyarthritis Rheumatoid factor-negative polyarticular JIA	1 emergency guideline(s) Arthrite idiopathique juvénile systémique Orphanet Urgences	french
ORPHA:85443	AL amyloidosis Light-chain amyloidosis	1 emergency guideline(s) Amylose AL Orphanet Urgences	french
ORPHA:85443	AL amyloidosis Light-chain amyloidosis	1 emergency guideline(s) Amiloidosis AL Orphanet Urgences	spanish
ORPHA:85436	Psoriasis-related juvenile idiopathic arthritis Juvenile psoriatic arthritis Psoriasis-related JIA	1 emergency guideline(s) Arthrite idiopathique juvénile systémique Orphanet Urgences	french
ORPHA:85435	Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Rheumatoid factor-positive polyarticular JIA Juvenile idiopathic rheumatoid factor-positive polyarthritis Juvenile polyarthritis with rheumatoid factor	1 emergency guideline(s) Arthrite idiopathique juvénile systémique Orphanet Urgences	french
ORPHA:85438	Enthesitis-related juvenile idiopathic arthritis Enthesitis-related JIA Juvenile ERA	1 emergency guideline(s) Arthrite idiopathique juvénile systémique Orphanet Urgences	french
ORPHA:86788	X-linked severe congenital neutropenia	1 emergency guideline(s) Neutropénie constitutionnelle sévère Orphanet Urgences	french
ORPHA:86788	X-linked severe congenital neutropenia	1 emergency guideline(s) Schwere konstitutionelle Neutropenie Orphanet Urgences	german
ORPHA:86788	X-linked severe congenital neutropenia	1 emergency guideline(s) Neutropenia constitucional grave Orphanet Urgences	spanish
ORPHA:86788	X-linked severe congenital neutropenia	1 emergency guideline(s) Neutropenia costituzionale grave Orphanet Urgences	italian
ORPHA:512103	Autosomal recessive epidermolytic ichthyosis AREI	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:79503	Ichthyosis hystrix of Curth-Macklin Ichthyosis hystrix, Curth-Macklin type	1 emergency guideline(s) Ichtyoses héréditaires Orphanet Urgences	french
ORPHA:79651	Mild hyperphenylalaninemia Mild HPA Non-PKU HPA mHPA	1 emergency guideline(s) Phénylcétonurie Orphanet Urgences	french
ORPHA:79651	Mild hyperphenylalaninemia Mild HPA Non-PKU HPA mHPA	1 emergency guideline(s) Fenilcetonuria Orphanet Urgences	spanish
ORPHA:83617	Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	1 emergency guideline(s) Déficits immunitaires humoraux chez l'adulte Orphanet Urgences	french
ORPHA:85138	Addison disease Primary Addison disease Autoimmune adrenalitis Classic Addison disease Autoimmune Addison disease Primary adrenal insufficiency	1 emergency guideline(s) Insuffisance surrénale aiguë (ISA) Orphanet Urgences	french
ORPHA:85138	Addison disease Primary Addison disease Autoimmune adrenalitis Classic Addison disease Autoimmune Addison disease Primary adrenal insufficiency	1 emergency guideline(s) Insufficienza surrenalica Orphanet Urgences	italian
ORPHA:85110	Familial encephalopathy with neuroserpin inclusion bodies FENIB	1 emergency guideline(s) Epilepsies myocloniques progressives (EMP) Orphanet Urgences	french
ORPHA:611216	Aplastic anemia-intellectual disability-dwarfism syndrome AMeD syndrome	1 emergency guideline(s) Aplasie médullaire Orphanet Urgences	french
ORPHA:98261	Progressive myoclonic epilepsy PME Progressive myoclonus epilepsy	1 emergency guideline(s) Epilepsies myocloniques progressives (EMP) Orphanet Urgences	french
ORPHA:98249	Ehlers-Danlos syndrome EDS	1 emergency guideline(s) Syndrome dEhlers-Danlos vasculaire (SEDv - SED de type IV) Orphanet Urgences	french
ORPHA:98249	Ehlers-Danlos syndrome EDS	1 emergency guideline(s) Zespol Ehlersa i Danlosa typu IV Orphanet Urgences	polish
ORPHA:98249	Ehlers-Danlos syndrome EDS	1 emergency guideline(s) Ehlers-Danlos-Syndrom Typ IV Orphanet Urgences	german
ORPHA:98249	Ehlers-Danlos syndrome EDS	1 emergency guideline(s) Type IV Ehlers-Danlos Syndrome Orphanet Urgences	english
ORPHA:98249	Ehlers-Danlos syndrome EDS	1 emergency guideline(s) Síndrome de Ehlers-Danlos de tipo IV Orphanet Urgences	spanish
ORPHA:98249	Ehlers-Danlos syndrome EDS	1 emergency guideline(s) Sindrome di Ehlers-Danlos tipo IV Orphanet Urgences	italian
ORPHA:98249	Ehlers-Danlos syndrome EDS	1 emergency guideline(s) Síndrome de Ehlers-Danlos do tipo IV Orphanet Urgences	portuguese
ORPHA:98292	Mastocytosis	1 emergency guideline(s) Mastocytoses Orphanet Urgences	french
ORPHA:97685	17q11 microdeletion syndrome Del(17)(q11) Monosomy 17q11 NF1 microdeletion syndrome Neurofibromatosis type 1 microdeletion syndrome	1 emergency guideline(s) Neurofibromatose type 1 Orphanet Urgences	french
ORPHA:95613	Pituitary apoplexy Pituitary tumor apoplexy	1 emergency guideline(s) Society for endocrinology endocrine emergency guidance: Emergency management of pituitary apoplexy in adult patients Endocr Connect	english
ORPHA:95626	Acquired arginine vasopressin deficiency Acquired CDI Acquired neurogenic diabetes insipidus	1 emergency guideline(s) Diabète insipide dorigine centrale Orphanet Urgences	french
ORPHA:95626	Acquired arginine vasopressin deficiency Acquired CDI Acquired neurogenic diabetes insipidus	1 emergency guideline(s) Diabetes insípida central Orphanet Urgences	spanish
ORPHA:95455	Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum SJS-TEN Epidermal necrolysis	1 emergency guideline(s) Nécrolyse épidermique Orphanet Urgences	french
ORPHA:95455	Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum SJS-TEN Epidermal necrolysis	1 emergency guideline(s) Epidermal necrolysis ERN-Skin	english
ORPHA:95455	Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum SJS-TEN Epidermal necrolysis	1 emergency guideline(s) Necrolisi epidermica tossica Orphanet Urgences	italian
ORPHA:95157	Acute hepatic porphyria	1 emergency guideline(s) Porphyrie hépatique aiguë Orphanet Urgences	french
ORPHA:95157	Acute hepatic porphyria	1 emergency guideline(s) Ostre porfirie watrobowe, objawy nerwowo-trzewne Orphanet Urgences	polish
ORPHA:95157	Acute hepatic porphyria	1 emergency guideline(s) Acute hepatic porphyria neuro-visceral crisis Orphanet Urgences	english
ORPHA:95157	Acute hepatic porphyria	1 emergency guideline(s) Porfirias hepáticas agudas Orphanet Urgences	spanish
ORPHA:95157	Acute hepatic porphyria	1 emergency guideline(s) Porfiria epatica acuta Orphanet Urgences	italian
ORPHA:95159	Hepatoerythropoietic porphyria HEP	1 emergency guideline(s) Porphyries cutanées tardives Orphanet Urgences	french
ORPHA:95159	Hepatoerythropoietic porphyria HEP	1 emergency guideline(s) Porfirie skorne Orphanet Urgences	polish
ORPHA:95159	Hepatoerythropoietic porphyria HEP	1 emergency guideline(s) Cutaneous porphyrias Orphanet Urgences	english
ORPHA:95159	Hepatoerythropoietic porphyria HEP	1 emergency guideline(s) Porfirias cutáneas Orphanet Urgences	spanish
ORPHA:95159	Hepatoerythropoietic porphyria HEP	1 emergency guideline(s) Porfirie cutanee Orphanet Urgences	italian
ORPHA:95159	Hepatoerythropoietic porphyria HEP	1 emergency guideline(s) Porfiria cutâneas Orphanet Urgences	portuguese
ORPHA:95409	Acute adrenal insufficiency Adrenal crisis Adrenocortical crisis Acute adrenal failure Acute adrenocortical insufficiency Addisonian crisis	1 emergency guideline(s) Insuffisance surrénale aiguë (ISA) Orphanet Urgences	french
ORPHA:95409	Acute adrenal insufficiency Adrenal crisis Adrenocortical crisis Acute adrenal failure Acute adrenocortical insufficiency Addisonian crisis	1 emergency guideline(s) Insufficienza surrenalica Orphanet Urgences	italian
ORPHA:94093	Neuroleptic malignant syndrome	1 emergency guideline(s) Syndrome malin des neuroleptiques Orphanet Urgences	french
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Warning

Information in Orphanet is updated on a regular basis. It may happen that new discoveries are made in between updates and do not yet appear in the disease profile. The date of the last update is always indicated. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.

Orphanet emergency guidelines are produced in French and translated and adapted in 7 languages. Translated guidelines are validated by Emergency learned societies or by experts in each translation country. However, Orphanet emergency guidelines are not yet available in the 7 languages of Orphanet or for all rare diseases.

Some emergency guidelines are produced by partner learned societies.

The provided information is based on published scientific articles. These general texts may not apply to specific cases, due to the extensive variability of disease expression. It is of the utmost importance to check with a medical professional if the information is relevant or not to a specific case.