holoprosencephaly 11

holoprosencephaly that has material basis in heterozygous mutation in the CDON gene on chromosome 11q24

Wikidata entity: Q32144196



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2293 genetic association ... Q18039883 (CDON) CDON
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q112193867 (class of disease) class of disease
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q200779 (genetic disease) genetic disease
P279 subclass of ... Q18553439 (autosomal dominant disease) autosomal dominant disease
P279 subclass of ... Q1459821 (holoprosencephaly) holoprosencephaly

External Ids
P699Disease Ontology IDDOID:0110877
P5270Mondo IDMONDO_0013642
P492OMIM ID614226
P492OMIM ID614226
P2892UMLS CUIC3280215
P11430UniProt disease IDDI-03230

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log id: 5910817