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2 OMIM references -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Lattice corneal dystrophy type I
Spondyloperipheral dysplasia - short ulna

TGFBI COL2A1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Lattice corneal dystrophy type I
TGFBI
Spondyloperipheral dysplasia - short ulna
COL2A1



Lattice corneal dystrophy type I
Spondyloperipheral dysplasia - short ulna

Synonym(s):
- Biber-Haab-Dimmer dystrophy
- Classic lattice corneal dystrophy
- LCD1
- LCDI
- Lattice corneal dystrophy type 1

Synonym(s):
(no synonyms)

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

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

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

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535799

Spondyloperipheral dysplasia - short ulna

Very frequent
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Cone epiphyses / epiphysis
- Metacarpal anomalies / Archibald's sign
- Metaphyseal anomaly
- Short hand / brachydactyly
- Short stature / dwarfism / nanism

Frequent
- Epiphyseal vertebral anomaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Occasional
- Pectus carinatum


Lattice corneal dystrophy type I

(no data available)