ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Severe achondroplasia - developmental delay - acanthosis nigricans

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.66)	STAT1

Citations in the biomedical literature:

Severe achondroplasia - developmental delay - acanthosis nigricans		Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
	Synonym(s): - SADDAN		Synonym(s): - MSMD due to partial STAT1 deficiency - MSMD due to partial signal transducer and activator of transcription 1 deficiency - Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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

Severe achondroplasia - developmental delay - acanthosis nigricans
	Very frequent - Anomalies of bones / skeletal anomalies - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Clavicle absent / abnormal - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
(no data available)