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acrodysostosis 2 with or without hormone resistance
Disease Summary
Associated Targets (2)
Tclin
1
Tbio
1
Mondo Description Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.
Uniprot Description A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems.
Mondo Term and Equivalent IDs
MONDO:0013822: acrodysostosis 2 with or without hormone resistance
Download Data for acrodysostosis 2 with or without hormone resistance
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614613
UMLS:C3553250
MONDO:0013822
High level summary of knowledge for a disease, including descriptions and datasource references.