rhizomelic chondrodysplasia punctata

Name
rhizomelic chondrodysplasia punctata
Ontological Reference
MONDO:0015776
Name
rhizomelic chondrodysplasia punctata
Ontological Reference
MONDO:0015776
ClinVar Variants
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External Resources
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Curated by Classification Date Report
Clinicalvalidity on Gene-Disease Validity Definitive
Autosomal Recessive 02/07/2020 View report
Curated by Classification Date Report
Clinicalvalidity on Gene-Disease Validity Definitive
Autosomal Recessive 10/04/2019 View report