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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Short stature due to partial GHR deficiency
Short stature due to growth hormone qualitative anomaly

GHR GH1


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
Short stature due to growth hormone qualitative anomaly
GH1



Short stature due to partial GHR deficiency
Short stature due to growth hormone qualitative anomaly

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

Synonym(s):
- Kowarski syndrome

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
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.