Name Orphanumber Description XREF(s)
Acquired schizencephaly 485275 Orphanet, ICD-10, OMIM
Acral peeling skin syndrome 263534 A rare peeling skin syndrome… Orphanet, ICD-10, OMIM
Acral self-healing collodion baby 281127 A variant of self-healing collodion… Orphanet, ICD-10
Acrocallosal syndrome 36 A rare polymalformative syndrome… Orphanet, OMIM, ICD-10
Acrocapitofemoral dysplasia 63446 A rare skeletal dysplasi, characterized… Orphanet, ICD-10, OMIM
Acrodermatitis continua of Hallopeau 163931 A rare, genetic, chronic, recurrent,… Orphanet, ICD-10
Acrodermatitis enteropathica 37 A rare inherited inborn error of… Orphanet, OMIM, ICD-10
Acrodysostosis 950 An acromelic dysplasia that is… Orphanet, OMIM, OMIM, MeSH, ICD-10
Acrodysostosis with multiple hormone resistance 280651 Orphanet, ICD-10, OMIM, OMIM
Acrofacial dysostosis, Rodríguez type 1788 A rare, severe, multiple congenital… Orphanet, ICD-10, OMIM, MeSH
Acrofacial dysostosis, Weyers type 952 A rare ectodermal dysplasia syndrome… Orphanet, OMIM, MeSH, ICD-10
Acrogeria 2500 A rare premature aging syndrome… Orphanet, OMIM, MeSH, ICD-10
Acrokeratosis verruciformis of Hopf 79151 A rare, genetic, acrokeratoderma… Orphanet, OMIM, MedDRA, ICD-10
Acromegaloid facial appearance syndrome 965 A rare multiple congenital anomalies/… Orphanet, OMIM, MeSH, ICD-10
Acromegaly 963 A rare acquired endocrine disease… Orphanet, OMIM, OMIM, MeSH, MedDRA, ICD-10
Acromelic frontonasal dysplasia 1827 A rare frontonasal dysplasia… Orphanet, OMIM, MeSH, ICD-10
Acromesomelic dysplasia, Grebe type 2098 A rare autosomal recessive… Orphanet, ICD-10, OMIM
Acromesomelic dysplasia, Hunter-Thompson type 968 A rare autosomal recessive… Orphanet, OMIM, ICD-10
Acromesomelic dysplasia, Maroteaux type 40 A rare autosomal recessive… Orphanet, OMIM, MeSH, ICD-10
Acromicric dysplasia 969 A rare bone dysplasia characterized by… Orphanet, OMIM, ICD-10, MeSH