Meckel syndrome 5
Meckel syndrome that has material basis in an autosomal recessive mutation of RPGRIP1L on chromosome 16q12.2
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Meckel syndrome 5
Summary
Meckel syndrome 5 is a rare disease[1].
Key Facts
- Meckel syndrome 5's instance of is recorded as rare disease[2].
- Meckel syndrome 5's instance of is recorded as class of disease[3].
- Meckel syndrome 5's subclass of is recorded as Meckel syndrome[4].
- Meckel syndrome 5's MeSH descriptor ID is recorded as C566915[5].
- Meckel syndrome 5's OMIM ID is recorded as 611561[6].
- Meckel syndrome 5's Disease Ontology ID is recorded as DOID:0070119[7].
- Meckel syndrome 5's genetic association is recorded as RPGRIP1L[8].
- Meckel syndrome 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070119[9].
- Meckel syndrome 5's exact match is recorded as http://identifiers.org/doid/DOID:0070119[10].
- Meckel syndrome 5's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_564[11].
- Meckel syndrome 5's UMLS CUI is recorded as C1969052[12].
- Meckel syndrome 5's ICD-10-CM is recorded as Q61.9[13].
- Meckel syndrome 5's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- Meckel syndrome 5's Mondo ID is recorded as MONDO_0012695[15].
- Meckel syndrome 5's UniProt disease ID is recorded as DI-00703[16].