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Brachyolmia type 1, Toledo type

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Chuvash erythrocytosis

1 OMIM reference -
1 associated gene
No signs/symptoms info

Brachyolmia type 1, Toledo type

Chuvash erythrocytosis

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAPSS2	(0.76)	VHL

Citations in the biomedical literature:

Brachyolmia type 1, Toledo type		Chuvash erythrocytosis
	Synonym(s): (no synonyms)		Synonym(s): - Chuvash polycythemia - Von Hippel-Lindau-dependent polycythemia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare hematologic 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown 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

Brachyolmia type 1, Toledo type
	Very frequent - Autosomal recessive inheritance - Corneal clouding / opacity / vascularisation - Mucopolysacchariduria - Platyspondyly - Rib structure anomalies - Short rib cage / thorax - Short stature / dwarfism / nanism Frequent - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Scoliosis - Short limbs / micromelia / brachymelia Occasional - Rachidian / spine canal stenosis
Chuvash erythrocytosis
(no data available)