microcephaly and chorioretinopathy 2
syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has material basis in homozygous mutation in the PLK4 gene
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microcephaly and chorioretinopathy 2
Summary
microcephaly and chorioretinopathy 2 is a rare disease[1].
Key Facts
- microcephaly and chorioretinopathy 2's instance of is recorded as rare disease[2].
- microcephaly and chorioretinopathy 2's instance of is recorded as class of disease[3].
- microcephaly and chorioretinopathy 2's subclass of is recorded as syndrome[4].
- microcephaly and chorioretinopathy 2's subclass of is recorded as genetic disease[5].
- microcephaly and chorioretinopathy 2's subclass of is recorded as microcephaly and chorioretinopathy[6].
- microcephaly and chorioretinopathy 2's subclass of is recorded as autosomal recessive disease[7].
- microcephaly and chorioretinopathy 2's OMIM ID is recorded as 616171[8].
- microcephaly and chorioretinopathy 2's Disease Ontology ID is recorded as DOID:0080106[9].
- microcephaly and chorioretinopathy 2's genetic association is recorded as PLK4[10].
- microcephaly and chorioretinopathy 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080106[11].
- microcephaly and chorioretinopathy 2's exact match is recorded as http://identifiers.org/doid/DOID:0080106[12].
- microcephaly and chorioretinopathy 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_808[13].
- microcephaly and chorioretinopathy 2's UMLS CUI is recorded as C4015388[14].
- microcephaly and chorioretinopathy 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- microcephaly and chorioretinopathy 2's Mondo ID is recorded as MONDO_0014516[16].
- microcephaly and chorioretinopathy 2's UniProt disease ID is recorded as DI-04299[17].