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Brachyolmia type 1, Toledo type
1 OMIM reference -
1 associated gene
11 connected diseases
12 signs/symptoms
Disease Type of connection
Spondyloepimetaphyseal dysplasia, Pakistani type
Chuvash erythrocytosis
Von Hippel-Lindau disease
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PAPSS2 O95340603005
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