Terminology Service for NFDI4Health
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is causal loss of function germline mutation of in

Go to external page http://purl.obolibrary.org/obo/RO_0004012

Relates a gene to condition, such that a mutation in this gene in a germ cell impairs the function of the corresponding product and that is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet].

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creation date

2017-11-05T02:56:06Z

imported from

http://purl.obolibrary.org/obo/ro.owl

see also

http://www.orpha.net/ORDO/Orphanet_410295

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