OrphanAnesthesia

Disease name: 22q11.2 deletion syndrome

ICD 10: D82.1 (DiGeorge-syndrome), Q93.81 (velo-cardio-facial syndrome)

Synonyms: DiGeorge-syndrome, velocardiofacial-syndrome (VCFS), Shprintzen-syndrome, “CATCH-22”-syndrome, conotruncal anomaly face syndrome, Takao syndrome

Citable version for download in the Journal A&I www.ai-online.info:

22q11.2 deletion syndrome

Disease name: 3-M syndrome

ICD 10: Q87.1

Synonyms: Dolichospondylic dysplasia, 3Μ dwarfism, gloomy face syndrome, le Merrer syndrome

Citable version for download in the Journal A&I www.ai-online.info:

3-M syndrome

The update 2019 version you find here:

Disease name:   3MC syndrome, Michels syndrome

ICD 10: -

Synonyms:  Malpuech-Michels-Mingarelli-Carnevale syndrome

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2020.s001

Disease name: Achondroplasia

ICD 10: Q77.4      ORPHAcode: 15

Synonyms: Chondrodysplasia, Chondrodystrophia fetalis

Citable version for download in the Journal A&I www.ai-online.info:

Achondroplasia

Citable version, published in 2014.

Translations may not always reflect the most recent updates of the English version.

Disease name: Acute adrenal insufficiency

ICD 10: E27.1-E27.4

Synonyms: Addisonian crisis

Citable version for download in the Journal A&I www.ai-online.info:

Acute adrenal insufficiency

Disease name:   Allgrove Syndrome
 
ICD 10:  E27.4
 
Synonyms: Triple A syndrome, 4 A Syndrome, Achalasia-Addisonianism-Alacrima syndrome

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2019.s001

Disease name: Alpha-mannosidosis

ICD 10: E77.1

Synonyms: Lysosomal alpha-D-mannosidase deficiency, Alpha-Mannosidase B Deficiency

Citable version for download in the Journal A&I www.ai-online.info:

Alpha-mannosidosis

The update 2019 version you find here:

Disease name: Alport syndrome

ICD 10: Q87.81

Synonyms: Hereditary nephritis

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2019.s405

Disease name: Amyotrophic lateral sclerosis

ICD 10: G 12.2

Synonyms: Charcot disease, Lou Gehrig's disease

Citable version for download in the Journal A&I www.ai-online.info:

Amyotrophic lateral sclerosis

Citable version, published in 2023.

Translations may not always reflect the most recent updates of the English version.

Disease name: Angelman syndrome

ICD 10: Q93.5

Synonyms: (Happy) puppet syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Angelman syndrome

The update 2019 version you find here:

Disease Name:  Anti-NMDA-receptor encephalitis

ICD 10: G04.81 (Other encephalitis, myelitis and encephalomyelitis)

Synonyms: Anti-N-methyl-D-aspartate-receptor encephalitis, Anti-NMDAR encephalitis

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Anti-NMDA-receptor encephalitis

Disease name: Antiphospholipid Antibody Syndrome (APS)

ICD 10: D68.6

Synonyms: Antiphospholipid Syndrome (APS)

Citable version for download in the Journal A&I www.ai-online.info:

Antiphospholipid antibody syndrome

Disease name: Apert syndrome

ICD 10: Q87.0

Synonyms: ACS 1, Acrocephalosyndactyly type 1

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Apert syndrome

ICD 10: E72.2

Synonyms: ASA deficiency, ASL deficiency, Argininosuccinase deficiency, Argininosuccinatelyase deficiency, argininosuccinic acid lyase deficiency

Disease name: Arrhythmogenic right ventricular dysplasia

Disease name: Arthrogryposis multiplex congenita

ICD 10: Q74.32

Synonyms: Arthrogryposis, Amyoplasia Congenita, Congenital Arthromyodysplasia, Guérin-Stern syndrome, Myodystrophia Fetalis Deformans

Citable version for download in the Journal A&I www.ai-online.info:

Arthrogryposis multiplex congenita

The update 2019 version you find here:

Disease name: Autism spectrum disorder (ASD)

ICD 10: F84: Pervasive development disorder; F84.0: Autistic disorder; F84.2: Rett's syndrome (not part of ASD); F84.3: Other childhood disintegrative disorder; F84.5: Asperger's syndrome; F84.8: Other pervasive development disorders; F84.9: Pervasive development disorder, unspecified

Synonyms: Autistic disorder, childhood autism, pervasive developmental disorder (not otherwise specified), atypical autism, Asperger syndrome, high-functioning autism

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Autism spectrum disorder

Disease name: Beals syndrome

ICD 10:  Q68.8

Synonyms:  Congenital contractural arachnodactyly (CCA), Beals syndrome, Beals-Hecht syndrome

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2019.s415

Citable version, published in 2019.

Translations may not always reflect the most recent updates of the English version.

Disease name: Beckwith–Wiedemann syndrome

ICD 10: 68730

Synonyms: Exomphalos-Macroglossia – Gigantism Syndrome (EMG Syndrome)

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Beckwith-Wiedemann syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Disease name: Biotinidase deficiency

ICD 10: E53.8

Synonyms: Late-Onset Biotin-aesponsive Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s014

Disease name: Birt-Hogg-Dubé syndrome (BHDS)

ICD10: D23.9

Synonyms: Hornstein-Knickenberg syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Birt-Hogg-Dube syndrome

Disease name: Bland-White-Garland syndrome

ICD 10: Q24.5

Synonyms: BWGS, Anomalous left coronary artery from the pulmonary artery (ALCAPA), White-Garland syndrome

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s001

Disease name: Blue Rubber Bleb Naevus syndrome
ICD 10: D18
Synonyms: Bean syndrome, Gascoyne syndrome

Disease name: Börjeson-Forssman-Lehmann syndrome

ICD 10: Q87.8
OMIM: 301900

Synonyms: -

Disease name: Bronchopulmonary dysplasia

ICD 10: P27.1

Synonyms: Chronic lung disease of prematurity

citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2019.s448

Citable version, published in 2019.

Translations may not always reflect the most recent updates of the English version.

Disease name: Brugada syndrome

ICD 10: I47.2

Synonyms: SUNDS - Sudden unexplained nocturnal death syndrome, Idiopathic ventricular fibrillation, Pokkuri (Japanese), Bangungut, Lai Tai (Philippines and Southeastern Asia).

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Brugada syndrome

Disease name: Camp(t)omelic dysplasia

ICD 10: Q87.1

Synonyms: Camp(t)omelic dwarfism, Camp(t)omelic syndrome,
Certain phenotypes are named: acamp(t)omelic camp(t)omelic dysplasia

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2020.s067

Disease name: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

ICD 10: I47 (Paroxysmal tachycardia), I47.2 (Ventricular tachycardia), ORPHA3286

Synonyms: Catecholamine-induced polymorphic ventricular tachycardia, bidirectional tachycardia induced by catecholamines, familial polymorphic ventricular tachycardia (FPVT),stress-induced polymorphic ventricular tachycardia

Citable version for download in the Journal A&I www.ai-online.info:

Catecholaminergic polymorphic ventricular tachycardia

Disease name: Central Core disease

ICD 10: G71.2

Synonyms: Shy-McGee syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Central core disease

The update 2019 version you find here:

Disease name: Chanarin-Dorfman-Syndrom

ICD 10: E75.5

Synonyms: Neutral Lipid Storage Disease with ichthyosis

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2025.S088

Citable version, published in 2025.

Translations may not always reflect the most recent updates of the English version.

Disease name: Charcot-Marie-Tooth disease

ICD 10: G60.0

Synonyms: Hereditary motor and sensory neuropathy. Includes: Charcot-Marie-Tooth, Déjerine-Sottas, hereditary motor and sensory neuropathy (however this term includes several entities different from Charcot-Marie-Tooth with heterogeneous inheritance), hypertrophic neuropathy of infancy, Peroneal muscular atrophy (axonal type) (hypertrophic type), Roussy-Lévy syndrome

Citable version for download in the Journal A&I www.ai-online.info:
 

Charcot-Marie-Tooth disease

Disease name: CHARGE syndrome

ICD 10: Q87.8

Synonyms: CHARGE association; Hall-Hittner syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Charge syndrome

The update 2019 version you find here:

Disease name:  Childhood nephrotic syndrome

ICD 10:  -

Synonyms:  Idiopathic nephrosis

Disease name:  Choanal atresia

ICD 10:  Q30.0

Synonyms:  Atresia of posterior naris; Congenital atresia of choana; Congenital atresia of posterior nares; Atresia of posterior nares

Disease name: Cleidocranial Dysplasia

ICD 10:

Synonyms: Scheuthauer-Marie-Sainton syndrome; Marie-Sainton syndrome

Disease name: CLOVES syndrome

ICD 10: Q87.3

Synonyms: Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome, Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome.

Disease name: Collagen VI-related myopathy

ICD 10: G71

Synonyms/Spectrum of phenotypes: 

Citable version for download in the Journal A&I www.ai-online.info:

Disease name:  Congenital cataracts, facial dysmorphism and neuropathy syndrome

ICD 10:  Q87.8

Synonyms:  CCFDN syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Citable version, published in 2014.

Translations may not always reflect the most recent updates of the English version.

Citable version for download in the Journal A&I www.ai-onlineinfo:

Disease name: Congenital hypothyroidism

ICD 10:
E03.0 with diffuse goiter
E03.1 without goiter

Synonyms: CH, neonatal hypothyroidism, fetal iodine deficiency disorder

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2020.s125

Disease name: Congenital Insensitivity to Pain

ICD 10: G60.8

Synonyms: Congenital Insensitivity to Pain; Hereditary Sensory and Autonomic Neuropathy type IV (HSAN IV)

Disease name: Conjoined twins

ICD 10: Q 89.4

Synonyms: Siamese twins

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s021

Disease name: Cornelia de Lange syndrome

ICD 10: Q87.1

Synonyms: De Lange Syndrome, Brachmann-de Lange syndrome, Typus degenerativus amstelodamensis

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2021.s069

Disease name: Costello syndrome

ICD 10: Q87.8      ORPHAcode: 3071

Synonyms: Significant phenotypical overlap with CFC (cardiofaciocutaneous syndrome) 

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2021.s075

Citable version, published in 2021.

Translations may not always reflect the most recent updates of the English version.

Disease name: Crouzon syndrome

ICD 10: Q75.1         ORPHAcode: 207 

Synonyms: Craniofacial dysostosis, first branchial arch syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Crouzon syndrome

Citable version, published in 2016.

Translations may not always reflect the most recent updates of the English version.

Disease name: Cystic fibrosis

ICD 10: E84.0

Synonyms: Mucoviscidosis

Citable version for download in the Journal A&I www.ai-online.info:

Cystic fibrosis

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2021.s100

Citable version, published in 2021.

Translations may not always reflect the most recent updates of the English version.

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2021.s106

Disease name: Distal arthrogryposis type 3

ICD 10: Q74.3

Synonyms: Gordon syndrome; distal arthrogryposis multiplex congenita type IIA; camptodactyly, cleft palate, and clubfoot

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2019.s536

Disease name:  Dubowitz syndrome

ICD 10:  Q87.1

Synonyms:  intrauterine primordial microsomia

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2021.s167

Disease name: Duchenne muscular dystrophy

ICD 10: G71.2

Synonyms: Dystrophinopathy

Citable version for download in the Journal A&I www.ai-online.info:

Duchenne masucular dystrophy

The update 2019 version you find here:

Citable version, published in 2022.

Translations may not always reflect the most recent updates of the English version.

Translations may not always reflect the most recent updates of the English version.

Disease name: Ehlers–Danlos syndrome

ICD 10: Q79.6

Synonyms: Dystrophinopathy

Citable version for download in the Journal A&I www.ai-online.info:

Ehlers-Danlos syndrome

The update 2019 version you find here:

Disease name: Eisenmenger's syndrome

ICD 10: Q21.8

Synonyms: Eisenmenger's disease; Eisenmenger's complex

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s173

Citable version for download in the Journal A&I www.ai-online.info:
 

Citable version, published in 2022.

Translations may not always reflect the most recent updates of the English version.

Disease name: Emery-Dreifuss Muscular Dystrophy (EDMD)

ICD 10: G71.0

Synonyms: Benign Scapuloperoneal Muscular Dystrophy, Hauptmann-Thannhauser Muscular Dystrophy, EDMD 1 (X-linked affecting EMD gene), EDMD 2/3 (autosomal dominant/recessive affecting LMNA gene). Other laminopathies may be phenotypically similar.

Citable version for download in the Journal A&I www.ai-online.info:

Emery-Dreifuss muscular dystrophy

Disease name: Epidermolysis bullosa

ICD 10: Q81     ORPHAcode: 303, 304, 305, 2908

Synonyms: -

Citable version for download in the Journal A&I www.ai-online.info:

Epidermolysis bullosa

Citable version, published in 2015.

Translations may not always reflect the most recent updates of the English version.

Disease name: Erdheim-Chester disease

Citable version for download in the Journal A&I www.ai-online.info:

Disease name: Multiple pterygium syndrome, Escobar variant

ICD 10: Q79.8

Synonyms: Escobar syndrome; pterygium syndrome; multiple pterygium syndrome, non-lethal type; familial pterygium syndrome; pterygium colli syndrome; pterygium universale

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2021.s183

Synonyms:  Morbus Fabry, Anderson Fabry disease, Fabry syndrome, Angiosarkoma corporis diffusum, α-galactosidase A deficiency

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2020.s074

Disease name: Familial Dysautonomia

ICD 10: G90.1

Synonyms: Riley-Day syndrome, Hereditary Sensory and Autonomic Neuropathy Type III, HSAN III, HSAN3, HSN-III

Disease name: Fibrodysplasia ossificans progressiva

ICD 10: M61.1

Synonyms: FOP

Citable version for download in the Journal A&I www.ai-online.info:

Fibrodysplasia ossificans progressiva

Disease name: Fragile X syndrome

ICD 10: Q99.2

Synonyms: FXS, FraX-Syndrome, Marker X Syndrome, Martin-Bell-Syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Fragile X syndrome

Disease name: Fraser syndrome

ICD 10: Q87.0     ORPHAcode: 2052

Synonyms: Cryptophthalmos syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Fraser syndrome

Citable version, published in 2015.

Translations may not always reflect the most recent updates of the English version.

Disease name: Freeman-Burian syndrome

ICD 10: Q87.0

Synonyms: Freeman-Sheldon syndrome, Whistling face syndrome, distal arthrogryposis type 2A, craniocarpotarsal dystrophy, craniocarpotarsal dysplasia, cranio-facio-corporal syndrome

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2019.s008

Disease name: Friedreich’s Ataxia

ICD 10: G11.1

Synonyms: -

Citable version for download in the Journal A&I www.ai-online.info:

Friedreich's ataxia

Disease name:  Fucosidosis (OMIM 230000)

ICD 10: E77.1

Synonyms: Alpha-L-Fucosidase Deficiency

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2020.s266

Citable version, published in 2020.

Translations may not always reflect the most recent updates of the English version.

Synonyms:  GAN

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2020.s273

Disease name:   Glanzmann’s thrombasthenia

ICD 10: D69.1

Synonyms: Glanzmann syndrome; Glanzmann-Nägeli syndrome; Glycoprotein IIb (GPIIb/III) complex deficiency; Haemorrhagic thrombasthenia; Hereditary thrombasthenia; Hereditary thrombocytopenic purpura; Platelet Fibrinogen receptor deficiency; Platelet glycoprotein IIb/IIIa deficiency; Thrombasthenia; Thrombocytasthenia.

Citable version for download in the Journal A&I www.ai-online.info:

Glanzmanns Thrombasthenia

Disease name: Glucose-6-phosphate dehydrogenase deficiency

ICD 10: D55.0

Synonyms: Favism, G6PD deficiency, Glucosephosphate dehydrogenase deficiency

Citable version for download in the Journal A&I www.ai-online.info:

Glucose-6-phosphate dehydrogenase deficiency

Disease name: Glutaric acidaemia type 1

ICD 10: E72.3 - Disorders of lysine and hydroxylysine metabolism

Synonyms: Glutaric aciduria type 1, Glutaric acidemia type 1

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2020.s108

Disease name: Glycogen storage disease type I

ICD 10: E74.0

Synonyms: von Gierke disease, Glycogenosis type I, Glucose-6-phosphatase deficiency, GSD-I

Citable version for download in the Journal A&I www.ai-online.info:

Glycogen storage disease type I

Disease name: Goldenhar syndrome

ICD 10: Q87.0

Synonyms: Oculo-Auriculo-Vertebral (OAV) syndrome / sequence, Facio-Auriculo-Vertebral syndrome, Goldenhar-Gorlin syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Goldenhar syndrome

Disease name: Gomez-Lopez-Hernandez syndrome

ICD 10: Q07.8

Synonyms: Cerebellotrigeminal dermal dysplasia

Citable version for download in the Journal A&I www.ai-online.info:

Gomez-Lopez-Hernandez syndrome

Disease name: Goodpasture syndrome

ICD 10: M31.0

Synomyms: Goodpasture’s syndrome (GS), anti-glomerular basement membrane disease, crescentic glomerulonephritis type 1, GPS

Citable version for download in the Journal A&I www.ai-online.info:

Goodpasture Syndrom

Citable version, published in 2023.

Disease name: Haemophilia A

ICD 10: D66

Synonyms: Classic haemophilia or Factor VIII deficiency

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s106

Disease name: Hallermann-Streiff syndrome

ICD 10: - 

Synonyms: Francois dyscephaly syndrome, oculo mandibulo dyscephaly

Citable version for download in the Journal A&I www.ai-online.info:

Hallermann-Streiff syndrome

The update 2019 version you find here:

Synonyms:  Craniofacial dysplasia-osteopenia syndrome

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2021.s191

Disease name: Hardikar syndrome

ICD 10: Q87.8

Synonyms: Hardikar syndrome, HDKR

Disease name: Harlequin ichthyosis

ICD 10: Q80.4

Synonyms: Harlequin baby, ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, Harlequin fetus, Ichthyosis congenita gravior

Citable version for download in the Journal A&I www.ai-online.info:

Harlequin ichtyosis

Disease name: Hermansky-Pudlak syndrome

ICD10: E70.3

Synonyms: /

Citable version for download in the Journal A&I www.ai-online.info:

Disease name: Homocystinuria

ICD 10: E72.11

Synonyms: Homocystinemia, classical homocystinuria, cystathionine b-synthase

Disease name: Hunter syndrome

ICD 10: E76.1

Synonyms: Mucopolysaccharidosis, Type II; MPS2; Iduronate-2-sulfatase deficiency; IDS deficiency; sulfo-iduronate sulfatase deficiency; SIDS deficiency

Citable version for download in the Journal A&I www.ai-online.info:

Hunter syndrome

Disease name: Huntington’s disease

Citable version for download in the Journal A&I www.ai-online.info:

Disease name: Hurler syndrome

ICD 10: E 76.0

Synonyms: Mucopolysaccharidosis (MPS) I-H, Alpha-L-Iduronidase Deficiency; Pfaundler-Hurler Syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Hurler syndrome

Disease name: Hypoplastic left heart syndrome

ICD 10: Q23.4

Synonyms: HLHS

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2017.s445

Disease name: Immune thrombocytopenia (ITP)

ICD 10: D69.3

Synonyms: Immune thrombocytopenic purpura, idiopathic thrombocytopenic purpura

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2017.s458

Disease name:  Jarcho-Levin syndrome

ICD 10:  Q76

Synonyms:  Spondylocostal dysostosis

Citable version for download in the Journal A&I www.ai-online.info:

Disease name: Joubert syndrome

ICD 10: Q04.3

Synonyms: CPD IV, Cerebelloparenchymal disorder IV, Classic Joubert syndrome, Joubert syndrome type A, Pure Joubert syndrome, Vermis-Agenesia, Joubert-Boltshauser syndrom

Citable version for download in the Journal A&I www.ai-online.info:

Joubert syndrome

Citable version, published in 2015.

Translations may not always reflect the most recent updates of the English version.

Disease name: Kabuki syndrome

ICD 10: Q87.0

Synonyms: Kabuki make-up syndrome, Niikawa-Kuroki syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Kabuki syndrome

Citable version for download in the Journal A&I www.ai-online.info:
 

Citable version, published in 2015.

Translations may not always reflect the most recent updates of the English version.

Disease name:   Kennedy disease

ICD 10:  G 12.1

Synonyms:  Spinal and bulbar muscular atrophy, x-linked spinal and bulbar muscular atrophy, bulbospinal muscular atrophy

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s205

Disease name: Kikuchi-Fujimoto disease

ICD 10: I88.1 Lymphadenitis cervical, non specified site, chronic or subacute

Synonyms: Histiocytic necrotizing lymphadenitis, Kikuchi disease, Kikuchi-Fujimoto
disease, Kikuchi lymphadenitis, lymphadenopathy, KFD

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2017.s482

Disease name: Klippel-Feil syndrome

ICD 10: Q76.1

Synonyms: Cervical vertebral fusion, Congenital cervical synostosis, Isolated Klippel-Feil syndrome, KFS

Citable version for download in the Journal A&I www.ai-online.info:

Klippel-Feil syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Citable version, published in 2022.

Translations may not always reflect the most recent updates of the English version.

Disease name: Lamellar ichthyosis

ICD 10: Q80.2

Synonyms: Autosomal recessive congenital ichthyosis, bathing-suit ichthyosis (limited to the trunk)

Citable version for download in the Journal A&I www.ai-online.info:

Lamellar ichthyosis

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s151

Citable version, published in 2022.

Translations may not always reflect the most recent updates of the English version.

Disease name: Lennox-Gastaut syndrome

ICD 10: G40.4

Synonyms: not reported

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2017.s491

Disease name: Liddle’s syndrome

ICD 10: I15.1

Synonyms: Pseudohyperaldosteronism

Citable version for download in the Journal A&I www.ai-online.info:

Liddle's syndrome

Disease name: Limb-girdle muscular dystrophy

ICD 10: G71.0

Synonyms: -

Citable version for download in the Journal A&I www.ai-online.info:

Limb-girdle muscular dystrophy

Disease name: Long-QT syndrome

ICD 10: I49.8

ICD 11: BC65.0

ORPHA:768, Alpha-SE ID I117711

Synonyms: LQTS

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2026.s001

Disease name: Macrophage activation syndrome

ICD 10: D76.2

Synonyms: haemophagocytic lymphohistiocytosis, reactive haemophagocytic syndrome, hemophagocytic syndrome

Citable version of 2015 for download in the Journal A&I www.ai-online.info:

Macrophage activation syndrome

The update 2019 version you find here:

Disease name: Malignant hyperthermia

ICD 10: T88.3

Synonyms: Malignant hyperpyrexia

Citable version for download in the Journal A&I www.ai-online.info:

Malignant hyperthermia

Citable version, published in 2015.

Translations may not always reflect the most recent updates of the English version.

Disease name: Maple syrup urine disease

ICD 10: E71.0

Synonyms: MSUD, branched-chain ketoaciduria, branched-chain-alpha-ketoacid

Disease name: Marfan syndrome

ICD 10: Q87.4

Synonyms: Marfan's syndrome

Citable version for download in the Journal A&I www.ai-online.info:
 

Marfan syndrome

Citable version, published in 2015.

Translations may not always reflect the most recent updates of the English version.

Disease name: Maroteaux Lamy syndrome

ICD 10: E76.29

Synonyms: Mucopolysaccharidosis Type VI; MPS VI; arylsulfatase B (ARSB) deficiency

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2017.s505

Disease name:  Metachromatic leukodystrophy

ICD 10:  E75.25

Synonyms:  - MLD

Citable version for download in the Journal A&I www.ai-online.info:

Metachromatic leukodystrophy

Disease name: Methylmalonic acidemia

ICD 10: E71.1

Synonyms: Methylmalonic aciduria, MMA, isolated methylmalonic acidemia

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s159

Citable version, published in 2017.

Translations may not always reflect the most recent updates of the English version.

Disease name: Mitochondrial Cytopathy, Mitochondrial Myopathy, Mitochondrial

ICD 10: G731.81

Synonyms: Mitochondrial diseases with typical combinations of clinical symptoms: Kearns-Sayre syndrom, progressive external ophthalmoplegia, Pearson syndrome, myoclonic epilepsy with ragged red fibers (MERFF), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), neuropathy with ataxia and retinitis pigmentosa, maternally inherited Leigh syndrome, Leber's hereditary optic neuropathy, Leigh disease, POLG1 associated disorders, mtDNA depletion syndromes

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2017.s125

Disease name: Moebius syndrome

ICD 10: Q87.0

Synonyms: Congenital facial diplegia (Congenital oculofacial paralysis, Mӧbius syndrome, Moebius sequence, MBS

Citable version for download in the Journal A&I www.ai-online.info:

Moebius syndrome

Disease name: Mounier-Kuhn syndrome

ICD 10: Q32.4; Q32.1

- With bronchiectasis: J47
- Exacerbation (acute): J47
- Lower respiratory infection: J47
- Acquired: J98.09 - With bronchiectasis: J47
- With exacerbation (acute): J47
- With lower respiratory infection: J47.0

Synonyms: Tracheobronchomegaly, trachiectasis, tracheobronchomalacia, and multiple tracheal diverticula.

Citable version for download in the Journal A&I www.ai-online.info:

Mounier-Kuhn syndrome

Disease name: Moyamoya disease

ICD 10: I67.5

Syonyms: Moyamoya means "something hazy, like a puff of cigarette smoke" in Japanese. It is also referred to as progressive intracranial occlusive arteriopathy. 

Citable version for download in the Journal A&I www.ai-online.info:

Moyamoya disease

Disease name: Mucolipidosis Type 2 and 3

ICD 10: E77.0

Synonyms: Mucolipidosis type 2 - I-cell disease, N-acetyl-glucosamine 1-phosphotransferase deficiency, Mucolipidosis type 3 - Pseudo-Hurler polydystrophy

Citable version for download in the Journal A&I www.ai-online.info:

Mucolipidosis type II and III

The update 2019 version you find here:

Disease name: Multiminicore disease

ICD 10: G71.2

Synonyms: MmD, Multi-minicore disease, Minicore myopathy, Multicore myopathy, Multiminicore myopathy, Minicore myopathy with hand involvement, antenatal onset minicore myopathy with arthrogryposis, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia, Multiminicore disease with external opthalmoplegia, SEPN1-related congenital muscular dystrophy, rigid spine syndrome, Rigid Spina Muscular Dystrophy.

Citable version for download in the Journal A&I www.ai-online.info:

Multiminicore disease

The update 2019 version you find here:

Synonyms:  Kahler's disease, Medullary plasmacytoma, Myelomatosis, Plasma cell myeloma

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2020.s386

Disease name: Myotonic dystrophies type 1 and 2

ICD 10: G71.1

Synonyms: Curshmann-Batten-Steinert disease, Proximal myotonic myopathy (PROMM)

Citable version for download in the Journal A&I www.ai-online.info:

Myotonic dystrophies type 1 and 2

Synonyms:  Acrofacial dysostosis 1 (AFD1), Nager acrofacial dysostosis, Preaxial acrofacial dysostosis, Mandibulofacial dysostosis with preaxial limb anomalies

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2019.s561

Disease name:  Nemaline myopathy

ICD 10:  G71.2
OMIM:  161 800, 256 030, 605 355

Synonyms:  NM, rod myopathy, congenital rod disease, nemaline rod myopathy

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s228

Disease name: Neurofibromatosis type 2

ICD 10: Q85.02

Synonyms: NF2

Citable version for download in the Journal A&I www.ai-online.info:

Neurofibromatosis type 2

Disease name: Neuromyelitis optica spectrum disorder

ICD 10: G36.0

Synonyms: Devic's Disease, Devic's Syndrome, Neuromyelitis optica, NMO, NMOSD

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2017.s597

Disease name: Neuromyotonia

ICD10: G71.19    ORPHAcode: 84142 

Synonyms: Isaac's syndrome, Continuous mascle fibre acitivity syndrome, Isaacs-Mertens syndrome, Quantal-Aquander syndrome, Gamstorp-Wohlfar syndrome, pseudomyotonia

Citable version for download in the Journal A&I www.ai-online.info:

Neuromyotonia

Citable version, published in 2023.

Translations may not always reflect the most recent updates of the English version.

Disease name:  Neuronal ceroid lipofuscinoses (NCL)

ICD 10: E75.4

Synonyms: Historically, single NCL forms have been classified according to infantile, lateinfantile, juvenile or adult onset and associated with names of investigators such as Santavuori-Haltia, Jansky-Bielschowsky, Batten, Spielmeyer-Vogt, Kufs

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2017.s134

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2022.s236

Disease name: Noncompaction cardiomyopathy

ICD10: 142.8 (unclassified cardiomyopathy)

Synonyms: Non-compaction cardiomyopathy, Lef ventricle noncompaction cardiomyopathy, Noncompaction/hypertrabeculation cardiomyopathy, Spongiform cardiomyopathy.

Citable version for download in the Journal A&I www.ai-online.info:

Noncompaction cardiomyopathy

Disease name: Noonan syndrome

ICD 10: Q87.1

Synonyms: -

Citable version for download in the Journal A&I www.ai-online.info:

Noonan syndrome

Disease name: Oculo-ectodermal syndrome

OMIM: 600268

Synonyms: Aplasia cutis congenita-epibulbar dermoids syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Oculo-ectodermal syndrome

Disease name: Opitz G/BBB syndrome

ICD 10: Q87.8

Synonyms: Hypertelorism-hypospadias syndrome, hypospadias-dysphagia syndrome, OpitzBBB/G syndrome, Opitz BBBG syndrome, Opitz-Frias syndrome, Opitz G syndrome, Opitz syndrome, hypertelorism with esophageal abnormalities and hypospadias

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2017.s605

Disease name: Osteogenesis imperfecta

ICD 10: Q78.0

Synonyms: brittle bone disease, Lobstein syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Osteogenesis imperfecta

The update 2019 version you find here:

Disease name: Osteopathia Striata with cranial sclerosis [OS-CS]

ICD 10: Q78.8

Synonyms: Osteopathia striata - Cranial sclerosis syndrome, Hyperostosis generalisata with striations, Robinow-Unger Syndrome, Horan-Beighton Syndrome

Disease name: Osteopetrosis

ICD 10: Q78.2

Synonyms: Marble bone disease, Albers-Schönberg disease, osteosclerosis, fragilitas generalisata, osteopetrosis generalisata

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2017.s611

Citable version, published in 2022.

Translations may not always reflect the most recent updates of the English version.

Disease name: Pantothenate kinase-associated neurodegeneration 

ICD 10: G23.0

Synonyms: Hallervorden-Spatz disease; neurodegeneration with brain iron accumulation type 1

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2020.s392

Disease name: Paroxysmal nocturnal haemoglobinuria (PNH)

ICD 10: D59.6

Synonyms: Marchiafava-Micheli disease; PNH

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s248

Disease name: Pena-Shokeir syndrome

ICD 10: Q87.8

Synonyms: Pena-Shokeir syndrome, Type I (OMIM 208150). Fetal akinesia sequence. Arthrogryposis multiplex congenita with pulmonary hypoplasia

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2017.s628

Disease name: Pfeiffer syndrome

ICD 10: Q87.0     ORPHAcode: 710

Snyonyms: ACS5, Acrocephalosyndactyly type V, noack syndrome, cranio-facialdermatological dysplasia

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s001

Citable version, published in 2018.

Translations may not always reflect the most recent updates of the English version.

Synonyms:  Pierre Robin Syndrome, Anomalad, Complex, Deformity, Triad

Citable version for download in the Journal A&I www.ai-online.info:

Pierre-Robin Sequence

Disease name: Pompe disease

ICD 10: E74.0

Synonyms: Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease type 2, GSD type 2, acid maltase deficiency, alpha–1, 4–glucosidase acid deficiency, glycogenosis due to acid maltase deficiency, glycogenosis type 2, acid alphaglucosidase (GAA) deficiency, GAA deficiency

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s015

Disease name: Porphyria

ICD 10: E80.0, E80.1, E80.2     ORPHAcode: 738, 95157, 309813, 659681, 659694, 659698

Synonyms: ALA dehydratase deficiency porphyria (ADP), Acute intermittent porphyria (AIP), Congenital erythopoietic porphyria (CEP), Erythropoietic protoporphyria (EPP), Hereditary coproporphyria (HCP) Porphyria cutanea (PCT), Plumboporphyria (PP) Variegate porphyria (VP), X-linked protoporphyria (XLP)

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s026

Citable version, published in 2018.

Translations may not always reflect the most recent updates of the English version.

Disease name: Prader-Willi syndrome

ICD 10: Q87.1

Synonyms: Prader-Labhardt-Willi syndrome

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s077

Disease name:  Propionic acidemia

ICD 10:  E71.121

Synonyms:  Propionyl-CoA carboxylase deficiency, PCC deficiency, PA, PCCA-related propionic academia, PCCB-related propionic acidemia

Disease name: Proteus Syndrome

Disease name: Pseudocholinesterase deficiency

ICD 10: E88.0 (ICD 11: 5C59.Y)

Synonyms: Butyrylcholinesterase deficiency, Synonyms of pseudocholianesterase: butyrylcholinesterase, serum cholinesterase, plasma cholinesterase, false cholinesterase

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2025.s144

Citable version, published in 2025.

Disease name: Recessive myotonia congenita

ICD 10: G71.1

Synonyms: Becker’s disease

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2019.s545

Disease name: Rett syndrome 

ICD 10: F84.2

Synonyms: Autistic disorder (F84.0)

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s117

Disease name: ROHHAD

ICD 10: -

Synonyms: Rapid onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s125

Citable version, published in 2018.

Translations may not always reflect the most recent updates of the English version.

Disease name: Russel-Silver syndrome

ICD 10: Q87.1

Synonyms: Silver-Russell-Syndrome

Russell-Silver dwarfism

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s433

Citable version, published in 2018.

Translations may not always reflect the most recent updates of the English version.

Disease name: Sanfilippo disease

ICD 10: E76.2

Synonyms: MPS III, Sanfilippo syndrome, Mucopolisaccaridosi type III

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s444

Disease name:   Schwartz–Jampel syndrome

ICD 10: G71.13

Synonyms: chondrodystrophic myotonia, myotonic chondrodystrophy

Citable version for download in the Journal A&I www.ai-online.info:

Schwartz-Jampel-Syndrom

Citable version, published in 2023.

Translations may not always reflect the most recent updates of the English version.

Disease name:   Scimitar syndrome

ICD 10: Q26.8

Synonyms: Congenital Pulmonary Venolobar Syndrome, Pulmonary Venous Return Anomaly, Partial/Total Anomalous Pulmonary Venous Return (P/TAPVR)

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s350

Disease name: Segawa’s dystonia

ICD 10: G24.8

Synonyms: Segawa’s disease, Dopamine-responsive dystonia (DRD),

Disease name:   Sheldon-Hall syndrome

ICD 10: Q74.3

Synonyms:  Freeman-Sheldon variant, distal arthrogryposis multiplex congenita, distal arthrogryposis type 2B, distal arthrogryposis multiplex congenita type II with craniofacial abnormalities

Disease name: Sickle Cell Disease

ICD 10: D57.1

Synonyms: Sickle Cell Anemia, Sickle-Hemoglobin C Disease, Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s485

Disease name: Smith-McCort Dysplasia (SMC)

ICD 10: -

Synonyms: Smith-McCort dwarfism, Orpha no: ORPHA178355

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s494

Disease name: Sotos syndrome

ICD10: Q87.3

Synonyms: Cerebral gigantism syndrome, Malan syndrome (Sotos syndrome 2)

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s350

Disease name: Spinal muscular atrophy

ICD 10:
G12.0 Infantile spinal muscle atrophy type I
G12.1 Spinal muscle atrophy childhood form type II
G12.1 Spinal muscle atrophy juvenile form type III

Spinal muscle atrophy type l: Werdnig-Hoffmanns disease (SMA l)
Spinal muscle atrophy type ll: Dubowitz disease (SMA ll)
Spinal muscle atrophy type lll: Kugelberg-Welanders disease (SMA lll)

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2021.s221

Disease name: Stiff person syndrome (SPS) 

ICD 10: G25.8

Synonyms: Moersch and Woltman syndrome, stiff limb syndrome, stiff trunk syndrome, PERM (progressive encephalomyelitis with rigidity and myoclonus)

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s510

Disease name: Sturge-Weber syndrome

ICD 10: Q85.8    ORPHAcode: 3205

Synonyms:  Dmitri disease, encephalofacial angiomatosis, enchephalotrigeminal

Citable version, published in 2018.

Translations may not always reflect the most recent updates of the English version.

Disease name: Stüve-Wiedemann syndrome

ICD 10: Q78.8

Synonyms: In older literature also known as Schwartz-Jampel type 2 syndrome

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s637

Disease name: Systemic sclerosis

ICD 10: M34.0

Synonyms: Progressive systemic sclerosis, Scleroderma, CREST syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Systemic sclerosis

Disease name: Thrombocytopenia-absent radius (TAR) syndrome

ICD 10: Q87.2       ORPHAcode: 3320

Synonyms: Absent radii and thrombocytopenia, Thrombocytopenia absent radii,

Citable version, published in 2018.

Translations may not always reflect the most recent updates of the English version.

Disease name: Tetralogy of Fallot

ICD 10: Q21.3

Synonyms: Fallot's tetralogy

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2018.s654

Disease name: Timothy syndrome

ICD 10: I45.8

Synonyms: LQT8, Long QT syndrome type 8, Long QT syndrome-syndactly syndrome

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2019.s018

Disease name: Tracheal agenesis, Tracheal atresia

ICD 10: Q32.4

Synonyms: -

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2019.s027

Disease name: Transverse myelitis

ICD 10: G37.3

Synonyms: -

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s364

Disease name: Treacher Collins syndrome

ICD 10:  Q75.4

Synonyms: Mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein syndrome

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s371

Disease name: Trisomy 18

ICD 10: Q91.1

Disease name:  Tuberous sclerosis complex

ICD 10: Q85.1

Synonyms:  Tuberous sclerosis, Bourneville disease, Epiloia

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s378

Disease name: VACTERL association 

ICD 10: Q87.2

Synonyms: VATERS association, VACTERLS association, VACTERL association

Disease name:  Van der Woude syndrome

ICD 10:  Q38.0

Synonyms: VWS, Cleft lip/palate with mucous cysts of lower lip, Lip-pit syndrome, van der Woude syndrome1 (VWS1), van der Woude syndrome2 (VWS2)

Disease name: Vein of Galen malformation

ICD10: Q28.2

Synonyms: Great cerebral vein, great vein of Galen, vein of Galen malformation, vein of Galen aneurysmal malformations (VGAMs)

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2022.s391

Disease name:  Von Hippel-Lindau disease

ICD 10:  Q85.8

Synonyms:  Morbus Hippel-Lindau, Familial cerebelloretinal angiomatosis, Lindau disease, VHL, VHLD

Citable version for download in the Journal A&I www.ai-online.info:

von Hippel-Lindau-Syndrom

Disease name: Von Willebrand disease

ICD 10: D68.0

Synonyms: Inherited bleeding disorder

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2019.s119

Disease name: Waardenburg syndromes

ICD 10: Q87.8

Synonyms: Waardenburg syndrome type I, type II, type III and type IV

Citable version for download in the Journal A&I www.ai-online.info:
 

DOI: 10.19224/ai2021.s304

Disease name: Walker-Warburg syndrome

ICD 10: Q04.3

Synonyms: Warburg syndrome, HARD (hydrocephalus, agyria, retinal dysplasia) or HARDE (E for encephalocele) syndrome, Chemke syndrome, Cerebro-ocular dysplasia-muscular dystrophy syndrome, cerebro-ocular dysgenesis, Pagon syndrome.
Muscle Eye Brain disease shares many characteristics with Walker-Warburg syndrome and has sometimes been used as synonym. However, most authors consider the two entities as different syndromes. Lissencephaly type II is also sometimes used as synonym, but is actually a broader term applying also to other similar syndromes with cobblestone lissencephaly.

Citable version for download in the Journal A&I www.ai-online.info:

DOI: 10.19224/ai2019.s130

Disease name: Welander distal myopathy

ICD 10: G71.0

Synonyms: late adult onset type 1 distal myopathy; distal myopathy, Swedish type

Citable version for download in the Journal A&I www.ai-online.info:

Welander distal myopathy

The update 2019 version you find here:

Citable version, published in 2019.

Translations may not always reflect the most recent updates of the English version.

Citable version, published in 2020.

Translations may not always reflect the most recent updates of the English version.

Disease name:  Zhu-Tokita-Takenouchi-Kim syndrome

ICD 10:  Q87.8

Synonyms:  ZTTK syndrome

Citable version for download in the Journal A&I www.ai-online.info:

Zhu-Tokita-Takenouchi-Kim-Syndrom