Diseases

Name Orphanumber Description XREF(s)
Tyrosinemia type 3 69723 Tyrosinemia type 3 is an inborn error… Orphanet, OMIM, MedDRA, ICD-10
Ulnar-mammary syndrome 3138 A rare congenital anomalies syndrome… Orphanet, MeSH, ICD-10, OMIM
UMOD-related autosomal dominant tubulointerstitial kidney disease 88950 A form of autosomal dominant… Orphanet, ICD-10, OMIM
Unclassified myelodysplastic syndrome 98827 Unclassified myelodysplastic syndrome (… Orphanet, ICD-10
Uncombable hair syndrome 1410 Uncombable hair syndrome (UHS), or pili… Orphanet, ICD-10, OMIM, MeSH, OMIM, OMIM
Unilateral multicystic dysplastic kidney 97363 A rare form of multicystic dysplastic… Orphanet, MeSH, ICD-10
Upper thoracic spina bifida aperta 268740 Orphanet
Upper thoracic spina bifida cystica 268770 Orphanet
Urocanic aciduria 210128 A rare histidine metabolism disorder… Orphanet, ICD-10, OMIM
Usher syndrome type 1 231169 A rare ciliopathy characterized by… Orphanet, OMIM, OMIM, ICD-10, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM
Usher syndrome type 2 231178 A rare ciliopathy characterized by… Orphanet, OMIM, OMIM, OMIM, ICD-10
Usher syndrome type 3 231183 A rare ciliopathy characterized by… Orphanet, OMIM, OMIM, OMIM, ICD-10
USP18 deficiency 481665 A rare genetic neurological disorder… Orphanet, OMIM, ICD-10
Uveal coloboma-cleft lip and palate-intellectual disability 1473 A rare, genetic, multiple congenital… Orphanet, OMIM, ICD-10
Uveal melanoma 39044 Uveal melanoma is a rare tumor of the… Orphanet, MeSH, MedDRA, OMIM, OMIM, OMIM, ICD-10
UV-sensitive syndrome 178338 A rare photodermatosis characterized by… Orphanet, OMIM, OMIM, OMIM, ICD-10
VACTERL/VATER association 887 VACTERL/VATER is an association of… Orphanet, MeSH, MeSH, MedDRA, ICD-10, OMIM, MedDRA
VACTERL with hydrocephalus 3412 VACTERL is an acronym for Vertebral… Orphanet, ICD-10, OMIM, OMIM
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates 88635 A rare, genetic vaculolar myopathy… Orphanet, OMIM, ICD-10
Van den Ende-Gupta syndrome 2460 Van den Ende-Gupta syndrome is a very… Orphanet, ICD-10, OMIM
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