autosomal recessive osteopetrosis 4

autosomal recessive osteopetrosis 4

http://purl.obolibrary.org/obo/MONDO_0012676

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: osteopetrosis, autosomal recessive type 4 autosomal recessive osteopetrosis caused by mutation in CLCN7 autosomal recessive osteopetrosis type 4 infantile malignant osteopetrosis 2 CLCN7 autosomal recessive malignant osteopetrosis autosomal recessive osteopetrosis 4 OPTB4 autosomal recessive malignant osteopetrosis caused by mutation in CLCN7 CLCN7 autosomal recessive osteopetrosis

Tree view
Term mappings

Preferred root terms

All terms

This is just here as a test because I lose it

Term information

database cross reference

DOID:0110944 (MONDO:equivalentTo)
GARD:5993 (OMIM:611490)
OMIM:611490 (MONDO:equivalentTo)
MESH:C566933 (MONDO:equivalentTo)

Subsets

gard_rare, rare, nord_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

exactMatch

http://purl.obolibrary.org/obo/DOID_0110944

https://omim.org/entry/611490

http://identifiers.org/mesh/C566933

has related synonym

osteopetrosis, autosomal recessive 4

osteopetrosis, infantile malignant 2

osteopetrosis autosomal recessive 4

osteopetrosis infantile malignant 2

MONDO:0012676

seeAlso

https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4

https://search.clinicalgenome.org/kb/conditions/MONDO:0012676

Term relations

Subclass of:

autosomal recessive osteopetrosis