osteogenesis imperfecta type 2
osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3
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osteogenesis imperfecta type 2
Summary
osteogenesis imperfecta type 2 is a rare disease[1].
Key Facts
- osteogenesis imperfecta type 2's instance of is recorded as rare disease[2].
- osteogenesis imperfecta type 2's instance of is recorded as class of disease[3].
- osteogenesis imperfecta type 2's subclass of is recorded as osteogenesis imperfecta[4].
- osteogenesis imperfecta type 2's subclass of is recorded as genetic disease[5].
- osteogenesis imperfecta type 2's OMIM ID is recorded as 166210[6].
- osteogenesis imperfecta type 2's Disease Ontology ID is recorded as DOID:0110341[7].
- osteogenesis imperfecta type 2's Encyclopædia Britannica Online ID is recorded as topic/type-II-osteogenesis-imperfecta[8].
- osteogenesis imperfecta type 2's Orphanet ID is recorded as 216804[9].
- osteogenesis imperfecta type 2's NCI Thesaurus ID is recorded as C99001[10].
- osteogenesis imperfecta type 2's health specialty is recorded as medical genetics[11].
- osteogenesis imperfecta type 2's genetic association is recorded as COL1A2[12].
- osteogenesis imperfecta type 2's genetic association is recorded as COL1A1[13].
- osteogenesis imperfecta type 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110341[14].
- osteogenesis imperfecta type 2's exact match is recorded as http://identifiers.org/doid/DOID:0110341[15].
- osteogenesis imperfecta type 2's ICD-10-CM is recorded as Q78.0[16].
- osteogenesis imperfecta type 2's GARD rare disease ID is recorded as 10142[17].
- osteogenesis imperfecta type 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- osteogenesis imperfecta type 2's Mondo ID is recorded as MONDO_0008147[19].
- osteogenesis imperfecta type 2's UniProt disease ID is recorded as DI-02107[20].