Meckel syndrome 4
Meckel syndrome that has material basis in an autosomal recessive mutation of CEP290 on chromosome 12q21.32
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Meckel syndrome 4
Summary
Meckel syndrome 4 is a rare disease[1].
Key Facts
- Meckel syndrome 4's instance of is recorded as rare disease[2].
- Meckel syndrome 4's instance of is recorded as class of disease[3].
- Meckel syndrome 4's subclass of is recorded as Meckel syndrome[4].
- Meckel syndrome 4's OMIM ID is recorded as 611134[5].
- Meckel syndrome 4's Disease Ontology ID is recorded as DOID:0070118[6].
- Meckel syndrome 4's genetic association is recorded as CEP290[7].
- Meckel syndrome 4's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070118[8].
- Meckel syndrome 4's exact match is recorded as http://identifiers.org/doid/DOID:0070118[9].
- Meckel syndrome 4's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_564[10].
- Meckel syndrome 4's UMLS CUI is recorded as C1970162[11].
- Meckel syndrome 4's UMLS CUI is recorded as C1970161[12].
- Meckel syndrome 4's ICD-10-CM is recorded as Q61.9[13].
- Meckel syndrome 4's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- Meckel syndrome 4's Mondo ID is recorded as MONDO_0012626[15].
- Meckel syndrome 4's UniProt disease ID is recorded as DI-00702[16].