RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
This term is obsolete.
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Definition:
An autosomal recessive disorder characterized by the onset of seizures and pituitary insufficiency in the first weeks or months of life. Caused by homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25.
Synonyms:
exact_synonym:
DEE105; Developmental and Epileptic Encephalopathy 105 with Hypopituitarism