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Ontology Browser

Term:
isolated growth hormone deficiency type II (DOID:0060872)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (0) Bonobo: (1) Dog: (0) Squirrel: (1) Pig: (0)
Parent Terms Term With Siblings Child Terms
Alazami Syndrome  
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  
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Idiopathic Short Stature, Autosomal  
isolated growth hormone deficiency type IA  
isolated growth hormone deficiency type IB  
isolated growth hormone deficiency type II  
An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. (DO)
isolated growth hormone deficiency type III  
Isolated Growth Hormone Deficiency Type V  
Isolated Growth Hormone Deficiency, Partial  
Kowarski Syndrome  
Pituitary Dwarfism with Large Sella Turcica 
X-Linked Mental Retardation with Isolated Growth Hormone Deficiency  

Synonyms
Exact Synonyms: Growth Hormone Deficiency, Isolated, Autosomal Dominant ;   IGHD II ;   IGHD2 ;   Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant ;   congenital IGHD type II ;   congenital isolated GH deficiency type II ;   congenital isolated growth hormone deficiency type II
Primary IDs: MESH:C562704 ;   RDO:0012300
Alternate IDs: OMIM:173100
Xrefs: ORDO:231679
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15671105 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO"

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