An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. [ NCIT:C129733 ]
Synonyms: osteopetrosis (disease), autosomal recessive infantile malignant osteopetrosis autosomal recessive osteopetrosis (disease) autosomal recessive malignant osteopetrosis OPTB autosomal recessive osteopetrosis
Term information
- Orphanet:667 (MONDO:equivalentTo)
- NCIT:C129733 (MONDO:equivalentTo)
- GARD:15012 (Orphanet:667)
- OMIMPS:259700 (MONDO:equivalentTo)
- SCTID:367489004 (MONDO:equivalentTo)
gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://identifiers.org/snomedct/367489004
http://www.orpha.net/ORDO/Orphanet_667
https://omim.org/phenotypicSeries/PS259700
http://purl.obolibrary.org/obo/NCIT_C129733