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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Short stature due to partial GHR deficiency
Isolated growth hormone deficiency type IB

GHR GH1
GHRHR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GHR
(0.9)
GH1



Citations in the biomedical literature:


Short stature due to partial GHR deficiency
GHR
Isolated growth hormone deficiency type IB
GH1 GHRHR



Short stature due to partial GHR deficiency
Isolated growth hormone deficiency type IB

Synonym(s):
- Short stature due to partial growth hormone receptor deficiency

Synonym(s):
- Congenital IGHD type IB
- Congenital isolated GH deficiency type IB
- Congenital isolated growth hormone deficiency type IB

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.