Diseases

Name Orphanumber Description XREF(s)
Congenitally uncorrected transposition of the great arteries with coarctation 99042 Orphanet
Complete atrioventricular canal-left heart obstruction syndrome 99066 Orphanet
Complete atrioventricular septal defect with ventricular hypoplasia 99067 Orphanet, ICD-10, OMIM
Complete atrioventricular septal defect-tetralogy of Fallot 99068 Orphanet, ICD-10, OMIM
Atrial septal defect, ostium secundum type 99103 Orphanet, OMIM, OMIM, MedDRA, MedDRA, ICD-10, OMIM
Atrial septal defect, sinus venosus type 99105 Orphanet, MeSH, ICD-10
Atrial septal defect, ostium primum type 99106 Orphanet, MeSH, ICD-10
Lymphedema-posterior choanal atresia syndrome 99141 A rare genetic disease characterized by… Orphanet, OMIM, ICD-10
Familial medullary thyroid carcinoma 99361 A rare thyroid tumor characterized by a… Orphanet, MeSH, ICD-10, OMIM
Fetal akinesia deformation sequence 994 The fetal akinesia/hypokinesia sequence… Orphanet, OMIM, OMIM, OMIM, ICD-10, OMIM, OMIM, OMIM
Complete androgen insensitivity syndrome 99429 Complete androgen insensitivity… Orphanet, OMIM, ICD-10
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 99646 Metaphyseal chondromatosis with D-2-… Orphanet, ICD-10, OMIM
Primary dystonia, DYT2 type 99657 A rare isolated dystonia characterized… Orphanet, OMIM, ICD-10
Leber plus disease 99718 A rare inherited mitochondrial disease… Orphanet, ICD-10, OMIM, OMIM
Pituitary gigantism 99725 A rare endocrine disease characterized… Orphanet, MeSH, MedDRA, ICD-10, OMIM
Isolated sulfite oxidase deficiency 99731 Orphanet, ICD-10, OMIM
Myotonia fluctuans 99734 A form of potassium-aggravated myotonia… Orphanet, OMIM, ICD-10
Myotonia permanens 99735 A very rare, persistent and more severe… Orphanet, OMIM, ICD-10
Acetazolamide-responsive myotonia 99736 A form of potassium-aggravated myotonia… Orphanet, ICD-10, OMIM
King-Denborough syndrome 99741 King-Denborough syndrome is a rare… Orphanet, ICD-10, MeSH, OMIM
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