rhizomelic chondrodysplasia punctata type 5
rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31
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rhizomelic chondrodysplasia punctata type 5
Summary
rhizomelic chondrodysplasia punctata type 5 is a developmental defect during embryogenesis[1].
Key Facts
- rhizomelic chondrodysplasia punctata type 5's instance of is recorded as developmental defect during embryogenesis[2].
- rhizomelic chondrodysplasia punctata type 5's instance of is recorded as rare disease[3].
- rhizomelic chondrodysplasia punctata type 5's instance of is recorded as class of disease[4].
- rhizomelic chondrodysplasia punctata type 5's subclass of is recorded as rhizomelic chondrodysplasia punctata[5].
- rhizomelic chondrodysplasia punctata type 5's OMIM ID is recorded as 616716[6].
- rhizomelic chondrodysplasia punctata type 5's Disease Ontology ID is recorded as DOID:0110854[7].
- rhizomelic chondrodysplasia punctata type 5's Orphanet ID is recorded as 468717[8].
- rhizomelic chondrodysplasia punctata type 5's genetic association is recorded as PEX5[9].
- rhizomelic chondrodysplasia punctata type 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110854[10].
- rhizomelic chondrodysplasia punctata type 5's exact match is recorded as http://identifiers.org/doid/DOID:0110854[11].
- rhizomelic chondrodysplasia punctata type 5's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_468717[12].
- rhizomelic chondrodysplasia punctata type 5's UMLS CUI is recorded as C4225237[13].
- rhizomelic chondrodysplasia punctata type 5's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- rhizomelic chondrodysplasia punctata type 5's Mondo ID is recorded as MONDO_0014743[15].
- rhizomelic chondrodysplasia punctata type 5's UniProt disease ID is recorded as DI-04602[16].