ODCs

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1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1

2 OMIM references -
1 associated gene
No signs/symptoms info

Spondylometaphyseal dysplasia, Schmidt type

Lattice corneal dystrophy type I


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1	(0.62)	TGFBI

Citations in the biomedical literature:

Spondylometaphyseal dysplasia, Schmidt type		Lattice corneal dystrophy type I
	Synonym(s): - Spondylometaphyseal dysplasia with severe genu valgum - Spondylometaphyseal dysplasia, Algerian type		Synonym(s): - Biber-Haab-Dimmer dystrophy - Classic lattice corneal dystrophy - LCD1 - LCDI - Lattice corneal dystrophy type 1

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

Spondylometaphyseal dysplasia, Schmidt type
	Very frequent - Autosomal dominant inheritance - Genu valgum - Kyphosis - Metaphyseal anomaly - Myopia - Scoliosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Abnormal vertebral size / shape - Joint / articular deformation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
Lattice corneal dystrophy type I
(no data available)