rhizomelic chondrodysplasia punctata type 1
rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3
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rhizomelic chondrodysplasia punctata type 1
Summary
rhizomelic chondrodysplasia punctata type 1 is a rare disease[1].
Key Facts
- rhizomelic chondrodysplasia punctata type 1's instance of is recorded as rare disease[2].
- rhizomelic chondrodysplasia punctata type 1's instance of is recorded as class of disease[3].
- rhizomelic chondrodysplasia punctata type 1's subclass of is recorded as rhizomelic chondrodysplasia punctata[4].
- rhizomelic chondrodysplasia punctata type 1's subclass of is recorded as Zellweger spectrum disorder[5].
- rhizomelic chondrodysplasia punctata type 1's subclass of is recorded as eye degenerative disease[6].
- rhizomelic chondrodysplasia punctata type 1's OMIM ID is recorded as 215100[7].
- rhizomelic chondrodysplasia punctata type 1's Disease Ontology ID is recorded as DOID:0110851[8].
- rhizomelic chondrodysplasia punctata type 1's Orphanet ID is recorded as 309789[9].
- rhizomelic chondrodysplasia punctata type 1's health specialty is recorded as medical genetics[10].
- rhizomelic chondrodysplasia punctata type 1's genetic association is recorded as PEX7[11].
- rhizomelic chondrodysplasia punctata type 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110851[12].
- rhizomelic chondrodysplasia punctata type 1's exact match is recorded as http://identifiers.org/doid/DOID:0110851[13].
- rhizomelic chondrodysplasia punctata type 1's UMLS CUI is recorded as C1859133[14].
- rhizomelic chondrodysplasia punctata type 1's ICD-10-CM is recorded as Q77.3[15].
- rhizomelic chondrodysplasia punctata type 1's GARD rare disease ID is recorded as 6049[16].
- rhizomelic chondrodysplasia punctata type 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- rhizomelic chondrodysplasia punctata type 1's Mondo ID is recorded as MONDO_0008972[18].
- rhizomelic chondrodysplasia punctata type 1's UniProt disease ID is recorded as DI-01001[19].