Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	MACRODACTYLY
Synonyms	MEGALODACTYLY
ID	http://purl.bioontology.org/ontology/OMIM/155500
altLabel	MEGALODACTYLY
cui	C0265552
Gene Locus	3q26.3
Gene Symbol	CWS5 MCAP MCMTC CCM4 PIK3CA MCM CLOVE CLAPO
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU061338
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	155500
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MACRODACTYLY
Scope Statement	Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, 171834.0001) [MOLECULAR BASIS]
tui	T019

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/48449000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10025386	MDRFRE	CUI
http://purl.bioontology.org/ontology/MEDDRA/10025386	MEDDRA	CUI
http://purl.bioontology.org/ontology/MESH/C562546	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/48449000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10025386	MDRGER	CUI
http://purl.bioontology.org/ontology/SNMI/D4-12210	SNMI	CUI
http://purl.obolibrary.org/obo/MP_0013149	MP	LOOM
http://purl.obolibrary.org/obo/MP_0013149	UPHENO	LOOM
http://purl.obolibrary.org/obo/MP_0013149	CHIRO	LOOM
http://purl.obolibrary.org/obo/HP_0004099	HP	LOOM
http://purl.obolibrary.org/obo/HP_0004099	UPHENO	LOOM
http://purl.obolibrary.org/obo/HP_0004099	OBA	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0265552	OCHV	LOOM
http://purl.obolibrary.org/obo/NCIT_C48900	BERO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10025386	MEDDRA	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48900	NCIT	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00012776	PMAPP-PMO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID18367	DERMLEX	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Macrodactyly	CSEO	LOOM
rgo:11986	GAMUTS	LOOM