Linked Life Data

rhizomelic chondrodysplasia punctata

Source:http://linkedlifedata.com/resource/diseaseontology/id/DOID:2580

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
skos:definition
"A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene." [url:http\://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata, url:http\://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata, url:http\://www.healthline.com/galecontent/rhizomelic-chondrodysplasia-punctata]
skos:inScheme
skos:prefLabel
rhizomelic chondrodysplasia punctata
skos:notation
MSH:D018902, NCI:C85047, OMIM:215100, OMIM:222765, OMIM:600121, SNOMEDCT_2010_1_31:56692003, UMLS_CUI:C0282529
skos:note
OMIM mapping confirmed by DO. [SN].
skos:broader