lethal congenital contracture syndrome 4
lethal congenital contracture syndrome that has material basis in homozygous mutation in the MYBPC1 gene on chromosome 12q23
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lethal congenital contracture syndrome 4
Summary
lethal congenital contracture syndrome 4 is a rare disease[1].
Key Facts
- lethal congenital contracture syndrome 4's instance of is recorded as rare disease[2].
- lethal congenital contracture syndrome 4's instance of is recorded as class of disease[3].
- lethal congenital contracture syndrome 4's subclass of is recorded as lethal congenital contracture syndrome[4].
- lethal congenital contracture syndrome 4's subclass of is recorded as genetic disease[5].
- lethal congenital contracture syndrome 4's OMIM ID is recorded as 614915[6].
- lethal congenital contracture syndrome 4's Disease Ontology ID is recorded as DOID:0060654[7].
- lethal congenital contracture syndrome 4's Orphanet ID is recorded as 137783[8].
- lethal congenital contracture syndrome 4's genetic association is recorded as MYBPC1[9].
- lethal congenital contracture syndrome 4's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060654[10].
- lethal congenital contracture syndrome 4's exact match is recorded as http://identifiers.org/doid/DOID:0060654[11].
- lethal congenital contracture syndrome 4's UMLS CUI is recorded as C3554046[12].
- lethal congenital contracture syndrome 4's GARD rare disease ID is recorded as 12645[13].
- lethal congenital contracture syndrome 4's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- lethal congenital contracture syndrome 4's Mondo ID is recorded as MONDO_0013965[15].
- lethal congenital contracture syndrome 4's UniProt disease ID is recorded as DI-03609[16].