OBO ID: DOID:0060874
Term Name: isolated growth hormone deficiency type IB Search Ontology:
Synonyms:
  • congenital IGHD type IB
  • congenital isolated GH deficiency type IB
  • congenital isolated growth hormone deficiency type IB
  • dwarfism of Sindh
  • IGHD IB
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. (3)
References:
Ontology: Human Disease   ( DOID:0060874 )
Relationships
is a type of:
OTHER isolated growth hormone deficiency type IB PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GH1 Growth hormone deficiency, isolated, type IB 612781
GHRHR Growth hormone deficiency, isolated, type IV 618157
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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