autosomal recessive osteopetrosis 6
osteopetrosis characterized by autosomal recessive inheritance of that has material basis in mutation in the PLEKHM1 gene on chromosome 17q21.31
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Summary
autosomal recessive osteopetrosis 6 is a developmental defect during embryogenesis[1]. It is known by 12 alternative names across languages and contexts.[2]
Key Facts
- autosomal recessive osteopetrosis 6's instance of is recorded as developmental defect during embryogenesis[3].
- autosomal recessive osteopetrosis 6's instance of is recorded as rare disease[4].
- autosomal recessive osteopetrosis 6's instance of is recorded as class of disease[5].
- autosomal recessive osteopetrosis 6 is a type of osteopetrosis[6].
- autosomal recessive osteopetrosis 6 is a type of autosomal recessive disease[7].
- autosomal recessive osteopetrosis 6's genetic association is recorded as PLEKHM1[8].
- autosomal recessive osteopetrosis 6's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110945[9].
- autosomal recessive osteopetrosis 6's exact match is recorded as http://identifiers.org/doid/DOID:0110945[10].
- autosomal recessive osteopetrosis 6's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_210110[11].
- autosomal recessive osteopetrosis 6's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
Why It Matters
autosomal recessive osteopetrosis 6 is known by 12 alternative names across languages and contexts.[2]