ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

Hypochondroplasia


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

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency		Hypochondroplasia
	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		Synonym(s): (no synonyms)

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

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

Hypochondroplasia
	Very frequent - Abnormal vertebral size / shape - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Elbow anomalies(excluding luxation) - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Genu varum - Hyperextensible joints / articular hyperlaxity - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality Occasional - Apnea / sleep apnea - Bowed diaphysis / diaphyses / long bones - Intellectual deficit / mental / psychomotor retardation / learning disability - Lordosis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Osteoarthritis - Rachidian / spine canal stenosis - Scoliosis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
(no data available)