autosomal recessive osteopetrosis 2
osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the TNFSF11 gene on chromosome 13q14
Press Enter · cited answer in seconds
0 sources
autosomal recessive osteopetrosis 2
Summary
autosomal recessive osteopetrosis 2 is a rare disease[1].
Key Facts
- autosomal recessive osteopetrosis 2's instance of is recorded as rare disease[2].
- autosomal recessive osteopetrosis 2's instance of is recorded as class of disease[3].
- autosomal recessive osteopetrosis 2's subclass of is recorded as osteopetrosis[4].
- autosomal recessive osteopetrosis 2's subclass of is recorded as autosomal recessive disease[5].
- autosomal recessive osteopetrosis 2's MeSH descriptor ID is recorded as C536059[6].
- autosomal recessive osteopetrosis 2's OMIM ID is recorded as 259710[7].
- autosomal recessive osteopetrosis 2's Disease Ontology ID is recorded as DOID:0110943[8].
- autosomal recessive osteopetrosis 2's genetic association is recorded as TNFSF11[9].
- autosomal recessive osteopetrosis 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110943[10].
- autosomal recessive osteopetrosis 2's exact match is recorded as http://identifiers.org/doid/DOID:0110943[11].
- autosomal recessive osteopetrosis 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_667[12].
- autosomal recessive osteopetrosis 2's UMLS CUI is recorded as C1850126[13].
- autosomal recessive osteopetrosis 2's GARD rare disease ID is recorded as 4157[14].
- autosomal recessive osteopetrosis 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- autosomal recessive osteopetrosis 2's Mondo ID is recorded as MONDO_0009816[16].
- autosomal recessive osteopetrosis 2's UniProt disease ID is recorded as DI-00887[17].