Diseases

Name Orphanumber Description XREF(s)
Atrial septal defect-atrioventricular conduction defects syndrome 1479 An extremely rare genetic congenital… Orphanet, OMIM, ICD-10
Atrial standstill 1344 A rare cardiac rhythm disease… Orphanet, OMIM, OMIM, ICD-10
Atrichia with papular lesions 86819 A rare inherited form of alopecia… Orphanet, OMIM, ICD-10
Atrophoderma vermiculata 79100 A rare genetic skin disease… Orphanet, OMIM, OMIM, ICD-10
Attenuated Chédiak-Higashi syndrome 352723 A very rare and atypical form of… Orphanet
ATTRV122I amyloidosis 85451 A rare hereditary Transthyretin (TTR)-… Orphanet, OMIM, ICD-10
ATTRV30M amyloidosis 85447 A rare hereditary ATTR amyloidosis (… Orphanet, OMIM, ICD-10
Atypical chronic myeloid leukemia 98824 A rare myelodysplastic/… Orphanet, MeSH, ICD-10, MedDRA
Atypical dentin dysplasia due to SMOC2 deficiency 314721 A rare, genetic, dentin dysplasia… Orphanet, OMIM, ICD-10
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome 544628 A rare genetic disease characterized by… Orphanet
Atypical Gaucher disease due to saposin C deficiency 309252 Orphanet, OMIM, ICD-10
Atypical glycine encephalopathy 289863 A rare form of glycine encephalopathy… Orphanet, ICD-10, OMIM, OMIM
Atypical hemolytic uremic syndrome with anti-factor H antibodies 93581 Orphanet, OMIM, ICD-10
Atypical hemolytic uremic syndrome with complement gene abnormality 544472 Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, ICD-10
Atypical hemolytic-uremic syndrome with I factor anomaly 93580 Orphanet, OMIM, ICD-10
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 93576 Orphanet, ICD-10, OMIM
Atypical hemolytic-uremic syndrome with C3 anomaly 93575 Orphanet, ICD-10, OMIM
Atypical hemolytic-uremic syndrome with H factor anomaly 93579 Orphanet, OMIM, OMIM, ICD-10
Atypical hemolytic-uremic syndrome with B factor anomaly 93578 Orphanet, OMIM, ICD-10
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 217023 Orphanet, ICD-10, OMIM
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