Ectodermal dysplasiaGene: RMRP
Cartilage-hair hypoplasia syndrome
Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 4:47 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 10 Aug 2016, 12:21 p.m.
Comment on phenotypes: Variants also reported in Anauxetic dysplasia 607095 and Metaphyseal dysplasia without hypotrichosis 250460
Created: 10 Aug 2016, 12:20 p.m.
gene: RMRP was added gene: RMRP was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia 250250