Meckel syndrome 3

Meckel syndrome that has material basis in an autosomal recessive mutation of TMEM67 on chromosome 8q22.1

Wikidata entity: Q50349682

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 ... Q18048458 (TMEM67) TMEM67
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 ... Q1915681 (Meckel syndrome) Meckel syndrome
External Ids
P699Disease Ontology IDDOID:0070117
P4317GARD rare disease ID8744
P4229ICD-10-CMQ61.9
P486MeSH descriptor IDC536132
P5270Mondo IDMONDO_0011821
P492OMIM ID607361
P492OMIM ID607361
P2892UMLS CUIC1846357
P11430UniProt disease IDDI-00701

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