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High bone mass osteogenesis imperfecta
2 associated genes
76 connected diseases
No signs/symptoms info
Disease Type of connection
Osteogenesis imperfecta type 3
Ehlers-Danlos / osteogenesis imperfecta syndrome
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 4
Dermatofibrosarcoma protuberans
Caffey disease
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, vascular-like type
Fetal and neonatal alloimmune thrombocytopenia
Bilateral striopallidodentate calcinosis
Familial multiple meningioma
Congenital stromal corneal dystrophy
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
Hereditary breast and ovarian cancer syndrome
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Lattice corneal dystrophy type I
Microcystic corneal dystrophy
Reis-Bücklers corneal dystrophy
Thiel-Behnke corneal dystrophy
Metaphyseal anadysplasia
Autosomal dominant macrothrombocytopenia
Glanzmann thrombasthenia
Fibronectin glomerulopathy
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Acral dystrophic epidermolysis bullosa
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Centripetalis recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex superficialis
Generalized dominant dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa inversa
Recessive dystrophic epidermolysis bullosa-generalized other
Severe generalized recessive dystrophic epidermolysis bullosa
Transient bullous dermolysis of the newborn
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Kufor-Rakeb syndrome
Ménière disease
Parkinsonim due to ATP13A2 deficiency
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
CARASIL
Congenital glaucoma
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Juvenile glaucoma
LIG4 syndrome
Omenn syndrome
Primary peritoneal carcinoma
Spondylocarpotarsal synostosis
IRIDA syndrome
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
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Temtamy syndrome
Synonym(s):
- High bone mass OI
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: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
COL1A1 P02452120150
COL1A2 P08123120160
No signs/symptoms info available.