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Ontology Browser

Term:
isolated growth hormone deficiency type IB (DOID:0060874)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (1) Bonobo: (2) Dog: (1) Squirrel: (2) Pig: (1)
Parent Terms Term With Siblings Child Terms
Alazami Syndrome  
Bridged Sella Turcica 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Combined Pituitary Hormone Deficiency, 2  
Combined Pituitary Hormone Deficiency, 3  
Combined Pituitary Hormone Deficiency, 4  
diabetes insipidus +   
empty sella syndrome +   
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
hyperpituitarism +   
Hypophysitis +  
hypopituitarism +   
Idiopathic Short Stature, Autosomal  
inappropriate ADH syndrome +   
isolated growth hormone deficiency type IA  
isolated growth hormone deficiency type IB  
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. (DO)
isolated growth hormone deficiency type II  
isolated growth hormone deficiency type III  
Isolated Growth Hormone Deficiency Type V  
Isolated Growth Hormone Deficiency, Partial  
Kowarski Syndrome  
necrosis of pituitary +   
Pituitary Dwarfism with Large Sella Turcica 
pituitary hypoplasia 
Pituitary Neoplasms +   
Pituitary Stalk Interruption Syndrome  
X-Linked Mental Retardation with Isolated Growth Hormone Deficiency  

Synonyms
Exact Synonyms: Dwarfism Of Sindh ;   IGHD IB ;   IGHD1B ;   Idiopathic Growth Hormone Deficiency ;   congenital IGHD type IB ;   congenital isolated GH deficiency type IB ;   congenital isolated growth hormone deficiency type IB
Primary IDs: MESH:C567564 ;   RDO:0015612
Alternate IDs: OMIM:612781
Xrefs: ORDO:231671
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10678654 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8528260 "DO" "DO"

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