Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		0.630 GeneticVariation disease BEFREE Mutations in the RMRP gene lead to a wide spectrum of autosomal recessive skeletal dysplasias, ranging from the milder phenotypes metaphyseal dysplasia without hypotrichosis and cartilage hair hypoplasia (CHH) to the severe anauxetic dysplasia (AD). 17701897 2007
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		0.630 GeneticVariation disease BEFREE Homozygosity mapping led to the identification of novel mutations in the RMRP gene, which was previously known to cause two milder types of short stature with susceptibility to cancer, cartilage hair hypoplasia, and metaphyseal dysplasia without hypotrichosis. 16252239 2005
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		0.630 Biomarker disease BEFREE Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. 2277385 1990
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		0.630 CausalMutation disease CLINVAR
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		0.630 GeneticVariation disease CLINVAR
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		0.630 Biomarker disease CTD_human
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		0.630 Biomarker disease GENOMICS_ENGLAND
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 		0.630 Biomarker disease GENOMICS_ENGLAND