autosomal recessive osteopetrosis 3
osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21
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autosomal recessive osteopetrosis 3
Summary
autosomal recessive osteopetrosis 3 is a class of disease[1].
Key Facts
- autosomal recessive osteopetrosis 3's instance of is recorded as class of disease[2].
- autosomal recessive osteopetrosis 3's subclass of is recorded as osteopetrosis[3].
- autosomal recessive osteopetrosis 3's subclass of is recorded as autosomal recessive disease[4].
- autosomal recessive osteopetrosis 3's subclass of is recorded as renal tubular acidosis[5].
- autosomal recessive osteopetrosis 3's OMIM ID is recorded as 259730[6].
- autosomal recessive osteopetrosis 3's KEGG ID is recorded as H00241[7].
- autosomal recessive osteopetrosis 3's Disease Ontology ID is recorded as DOID:0110941[8].
- autosomal recessive osteopetrosis 3's Orphanet ID is recorded as 2785[9].
- autosomal recessive osteopetrosis 3's NCI Thesaurus ID is recorded as C118438[10].
- autosomal recessive osteopetrosis 3's genetic association is recorded as CA2[11].
- autosomal recessive osteopetrosis 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110941[12].
- autosomal recessive osteopetrosis 3's exact match is recorded as http://identifiers.org/doid/DOID:0110941[13].
- autosomal recessive osteopetrosis 3's UMLS CUI is recorded as C0345407[14].
- autosomal recessive osteopetrosis 3's GARD rare disease ID is recorded as 4154[15].
- autosomal recessive osteopetrosis 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- autosomal recessive osteopetrosis 3's Mondo ID is recorded as MONDO_0009818[17].
- autosomal recessive osteopetrosis 3's UniProt disease ID is recorded as DI-01252[18].