osteoporosis-pseudoglioma syndrome
Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures
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osteoporosis-pseudoglioma syndrome
Summary
osteoporosis-pseudoglioma syndrome is a developmental defect during embryogenesis[1].
Key Facts
- osteoporosis-pseudoglioma syndrome's instance of is recorded as developmental defect during embryogenesis[2].
- osteoporosis-pseudoglioma syndrome's instance of is recorded as class of disease[3].
- osteoporosis-pseudoglioma syndrome is a type of autosomal recessive disease[4].
- osteoporosis-pseudoglioma syndrome is a type of osteogenesis imperfecta[5].
- osteoporosis-pseudoglioma syndrome is a type of retinal disease[6].
- osteoporosis-pseudoglioma syndrome is a type of genetic syndromic intellectual disability[7].
- osteoporosis-pseudoglioma syndrome is a type of primary bone dysplasia with decreased bone density[8].
- osteoporosis-pseudoglioma syndrome is a type of congenital vitreoretinal dysplasia[9].
- osteoporosis-pseudoglioma syndrome is a type of syndrome[10].
- osteoporosis-pseudoglioma syndrome's NCI Thesaurus ID is recorded as C130998[11].
- osteoporosis-pseudoglioma syndrome's health specialty is recorded as medical genetics[12].
- osteoporosis-pseudoglioma syndrome's genetic association is recorded as LRP5[13].
- osteoporosis-pseudoglioma syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060849[14].
- osteoporosis-pseudoglioma syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060849[15].
- osteoporosis-pseudoglioma syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].