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short stature, microcephaly, and endocrine dysfunction
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction. In affected adults endocrine features include hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus. Variable features observed in some patients are progressive ataxia, and lymphopenia or borderline leukopenia.
Mondo Term and Equivalent IDs
MONDO:0014686: short stature, microcephaly, and endocrine dysfunction
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616541
UMLS:C4225288
MONDO:0014686
High level summary of knowledge for a disease, including descriptions and datasource references.