| Metadata | |
|---|---|
| ID | DOID:0060873 |
| Name | isolated growth hormone deficiency type IA |
| Definition | An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. https://www.ncbi.nlm.nih.gov/pubmed/16060904, https://www.ncbi.nlm.nih.gov/pubmed/8288694 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive isolated growth hormone deficiency [EXACT] IGHD IA [EXACT] Illig-type growth hormone deficiency [EXACT] pituitary dwarfism I [EXACT] primordial dwarfism [EXACT] sexual ateleiotic dwarfism [EXACT] |
| Parent Relationships |