autosomal recessive osteopetrosis 4
osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13
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autosomal recessive osteopetrosis 4
Summary
autosomal recessive osteopetrosis 4 is a rare disease[1].
Key Facts
- autosomal recessive osteopetrosis 4's instance of is recorded as rare disease[2].
- autosomal recessive osteopetrosis 4's instance of is recorded as class of disease[3].
- autosomal recessive osteopetrosis 4's subclass of is recorded as osteopetrosis[4].
- autosomal recessive osteopetrosis 4's subclass of is recorded as autosomal recessive disease[5].
- autosomal recessive osteopetrosis 4's MeSH descriptor ID is recorded as C566933[6].
- autosomal recessive osteopetrosis 4's OMIM ID is recorded as 611490[7].
- autosomal recessive osteopetrosis 4's OMIM ID is recorded as 611490[8].
- autosomal recessive osteopetrosis 4's Disease Ontology ID is recorded as DOID:0110944[9].
- autosomal recessive osteopetrosis 4's genetic association is recorded as CLCN7[10].
- autosomal recessive osteopetrosis 4's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110944[11].
- autosomal recessive osteopetrosis 4's exact match is recorded as http://identifiers.org/doid/DOID:0110944[12].
- autosomal recessive osteopetrosis 4's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_667[13].
- autosomal recessive osteopetrosis 4's UMLS CUI is recorded as C1969106[14].
- autosomal recessive osteopetrosis 4's GARD rare disease ID is recorded as 5993[15].
- autosomal recessive osteopetrosis 4's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- autosomal recessive osteopetrosis 4's Mondo ID is recorded as MONDO_0012676[17].
- autosomal recessive osteopetrosis 4's UniProt disease ID is recorded as DI-00888[18].