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Ontology Browser

Term:
isolated growth hormone deficiency type IA (DOID:0060873)
Annotations: Rat: (7) Mouse: (7) Human: (8) Chinchilla: (5) Bonobo: (6) Dog: (5) Squirrel: (6) Pig: (5)
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  
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. (DO)
isolated growth hormone deficiency type IB  
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  
Pituitary Dwarfism with Large Sella Turcica 
X-Linked Mental Retardation with Isolated Growth Hormone Deficiency  

Synonyms
Exact Synonyms: Growth hormone deficiency, isolated, autosomal recessive ;   IGHD IA ;   IGHD1A ;   ILLIG-TYPE GROWTH HORMONE DEFICIENCY ;   Isolated growth hormone deficiency, type 1b ;   Nanism due to growth hormone isolated deficiency ;   PRIMORDIAL DWARFISM ;   Pituitary Dwarfism 1 ;   Pituitary Dwarfism I ;   Sexual ateleiotic dwarfism
Primary IDs: MESH:C537404
Alternate IDs: OMIM:262400 ;   RDO:0003244
Xrefs: ORDO:231662
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/16060904 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO"

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