Diseases

Name Orphanumber Description XREF(s)
46,XX testicular disorder of sex development 393 A rare disorder of sex development (DSD… Orphanet, MeSH, OMIM, OMIM, OMIM, ICD-10
5-fluorouracil toxicity 240839 Orphanet
5-oxoprolinase deficiency 33572 A very heterogeneous condition… Orphanet, ICD-10, MeSH, OMIM
5p13 microduplication syndrome 329802 A rare partial autosomal trisomy/… Orphanet, OMIM, ICD-10
5q14.3 microdeletion syndrome 228384 The newly described 5q14.3… Orphanet, ICD-10, OMIM
5q35 microduplication syndrome 228415 The newly described 5q35… Orphanet
6-pyruvoyl-tetrahydropterin synthase deficiency 13 6-pyruvoyl-tetrahydropterin synthase (… Orphanet, ICD-10, OMIM, MeSH
6q16 microdeletion syndrome 171829 A rare Prader-Willi like syndrome due… Orphanet
6q25 microdeletion syndrome 251056 6q25 microdeletion syndrome is a… Orphanet, OMIM, ICD-10
7q31 microdeletion syndrome 251061 7q31 microdeletion syndrome is a rare… Orphanet
8p11.2 deletion syndrome 251066 8p11.2 deletion syndrome is a… Orphanet
8p23.1 microdeletion syndrome 251071 8p23.1 deletion involves a partial… Orphanet, ICD-10
8q24.3 microdeletion syndrome 508488 A multiple congenital anomalies/… Orphanet
9q33.3q34.11 microdeletion syndrome 495818 Partial monosomy of the long arm of… Orphanet
AApoAI amyloidosis 93560 A rare, hereditary amyloidosis with… Orphanet
AApoAII amyloidosis 238269 A rare hereditary amyloidosis with… Orphanet
Aarskog-Scott syndrome 915 A rare developmental disorder… Orphanet, MedDRA, ICD-10, OMIM, OMIM
Abacavir toxicity 240841 Orphanet
Abdominal obesity-metabolic syndrome 3 OMIM
ABeta amyloidosis, Arctic type 324723 A form of hereditary cerebral… Orphanet, OMIM, ICD-10, ICD-10
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