Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease BEFREE <i>Viperin</i> mRNA is a substrate for endoribonucleolytic cleavage by RNase mitochondrial RNA processing (MRP) and mutations in the RNase MRP small nucleolar RNA (snoRNA) subunit of the RNase MRP complex cause cartilage-hair hypoplasia (CHH), a human developmental condition characterized by metaphyseal chondrodysplasia and severe dwarfism. 30718282 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease BEFREE Cartilage-hair hypoplasia is associated with severe dwarfism caused by impaired skeletal development. 28743979 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE RMRP mutations can cause short stature and significant immunodeficiency which can be corrected by allogeneic SCT and the diagnosis should be considered even in the absence of skeletal manifestations. 25663137 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE Screening for RMRP gene mutations should be part of immunological evaluation of patients with 'severe and/or combined' T cell immunodeficiency of unknown origin, especially when associated with short stature and regardless of presence or absence of radiological skeletal features. 24217815 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease BEFREE Cartilage-hair hypoplasia (CHH) is a rare autosomal-recessive disorder characterized by short-limbed dwarfism, sparse hair, and immune deficiency. 21063072 2010
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease BEFREE Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by severe short-limb short stature and hypoplastic hair. 15780958 2005
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including short stature, sparse hair, metaphyseal dysplasia, anemia, immune deficiency, and increased incidence of cancer. 16244706 2005
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. 16252239 2005
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease BEFREE The recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH) is highly pleiotropic with manifestations including short stature, defective cellular immunity, and predisposition to several cancers. 11207361 2001
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease BEFREE Cartilage hair hypoplasia (CHH), or metaphyseal dysplasia McKusick type, classically comprises short stature and scant fine hair. 10494084 1999
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease BEFREE Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia characterized by short stature, sparse hair, and a variable degree of immunodeficiency. 9115626 1997
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease BEFREE Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short stature and hypoplasia of the hair. 7860061 1995
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease BEFREE Cartilage-hair hypoplasia is an osteochondrodysplasia with short-limbed short stature. 1542548 1992
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 GeneticVariation disease BEFREE Cartilage hair hypoplasia (CHH) is an autosomal recessive form of short-limbed dwarfism prevalent among the Old Order Amish. 3521972 1986
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease HPO