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General Information
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| Term |
isolated growth hormone deficiency type IB |
ID (Ontology) |
DOID:0060874 (Human Disease) |
| Definition |
An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. |
| Also Known As |
"congenital IGHD type IB" ; "congenital isolated GH deficiency type IB" ; "congenital isolated growth hormone deficiency type IB" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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isolated growth hormone deficiency type IB | 1 | for disease ribbon | isolated growth hormone deficiency type IB | 1 | model of | isolated growth hormone deficiency type IB | 1 |
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Relationships