Diseases

Name Orphanumber Description XREF(s)
Athyreosis 95713 A rare form of thyroid dysgenesis… Orphanet, OMIM, OMIM, ICD-10
Familial thyroid dyshormonogenesis 95716 Familial thyroid dyshormonogenesis is a… Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, ICD-10, ICD-10
Thyroid hypoplasia 95720 Thyroid hypoplasia is a form of thyroid… Orphanet, OMIM, OMIM, MedDRA, ICD-10
Acro-renal-ocular syndrome 959 A rare syndrome of multiple congenital… Orphanet, OMIM, ICD-10
Ataxia with vitamin E deficiency 96 A neurodegenerative disease belonging… Orphanet, MedDRA, ICD-10, OMIM, MeSH
Kleefstra syndrome due to 9q34 microdeletion 96147 Orphanet, ICD-10, OMIM
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 96182 Silver-Russell syndrome due to maternal…
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 96182 Silver-Russell syndrome due to maternal… Orphanet
Temple syndrome due to maternal uniparental disomy of chromosome 14 96184 A rare chromosomal anomaly… Orphanet, ICD-10, OMIM
Maternal uniparental disomy of chromosome 16 96185 Maternal uniparental disomy of…
Paternal uniparental disomy of chromosome 6 96191 Paternal uniparental disomy of… Orphanet, ICD-10
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 96193
Cushing disease 96253 Cushing disease (CD) is the most common… Orphanet, ICD-10, ICD-10, OMIM, MeSH, MedDRA
Leydig cell hypoplasia due to complete LH resistance 96265 Orphanet, ICD-10, OMIM
Leydig cell hypoplasia due to partial LH resistance 96266 Orphanet, ICD-10, OMIM
Acromegaly 963 A rare acquired endocrine disease… Orphanet, OMIM, OMIM, MeSH, MedDRA, ICD-10
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 96334 Orphanet, OMIM, MeSH, ICD-10
Acromegaloid facial appearance syndrome 965 A rare multiple congenital anomalies/… Orphanet, OMIM, MeSH, ICD-10
Hypertrichosis-acromegaloid facial appearance syndrome 966 Hypertrichosis-acromegaloid facial… Orphanet
Acromesomelic dysplasia, Hunter-Thompson type 968 A rare autosomal recessive… Orphanet, OMIM, ICD-10
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