Diseases

Name Orphanumber Description XREF(s)
Familial gestational hyperthyroidism 99819 A rare genetic hyperthyroidism… Orphanet, ICD-10, ICD-10, MeSH, OMIM
Resistance to thyrotropin-releasing hormone syndrome 99832 Resistance to thyrotropin-releasing… Orphanet, OMIM, ICD-10
Leukocyte adhesion deficiency type I 99842 Leukocyte adhesion deficiency type I (… Orphanet, ICD-10, OMIM, MeSH
Leukocyte adhesion deficiency type II 99843 Leukocyte adhesion deficiency type II (… Orphanet, ICD-10, OMIM
Leukocyte adhesion deficiency type III 99844 Leukocyte adhesion deficiency type III… Orphanet, ICD-10, OMIM
Genetic recurrent myoglobinuria 99845 Genetic recurrent myoglobinuria is an… Orphanet, ICD-10, OMIM, OMIM
Glycogen storage disease due to muscle beta-enolase deficiency 99849 A rare glycolysis disorder… Orphanet, ICD-10, OMIM
Ravine syndrome 99852 Ravine syndrome is an extremely rare… Orphanet, ICD-10
Ovarioleukodystrophy 99853 Orphanet, OMIM, OMIM, ICD-10
Cree leukoencephalopathy 99854 Orphanet, OMIM, ICD-10
Precursor B-cell acute lymphoblastic leukemia 99860 A rare acute lymphoblastic leukemia… Orphanet, ICD-10, OMIM, ICD-10
Precursor T-cell acute lymphoblastic leukemia 99861 A rare acute lymphoblastic leukemia… Orphanet, ICD-10
Hashimoto-Pritzker syndrome 99872 Hashimoto-Pritzker histiocytosis (HPH)… Orphanet, MeSH, ICD-10
Familial isolated hyperparathyroidism 99879 A rare, hereditary, familial primary… Orphanet, OMIM, MeSH, OMIM, OMIM, OMIM, ICD-10, OMIM
Hyperparathyroidism-jaw tumor syndrome 99880 A rare genetic disease characterized by… Orphanet, ICD-10, OMIM
Isolated permanent neonatal diabetes mellitus 99885 Permanent neonatal diabetes mellitus (… Orphanet, OMIM, OMIM, ICD-10, OMIM, OMIM
Transient neonatal diabetes mellitus 99886 Transient neonatal diabetes mellitus (… Orphanet, OMIM, OMIM, OMIM, ICD-10
Acute megakaryoblastic leukemia in Down syndrome 99887 Orphanet, ICD-10
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency 99898 Mendelian susceptibility to… Orphanet, OMIM, MeSH, ICD-10
Long chain acyl-CoA dehydrogenase deficiency 99900 Orphanet, MeSH, ICD-10
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