Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	DIGITAL CLUBBING, ISOLATED CONGENITAL
Synonyms	DIGC CLUBBING OF DIGITS ACROPACHY, HEREDITARY
ID	http://purl.bioontology.org/ontology/OMIM/119900
altLabel	DIGC CLUBBING OF DIGITS ACROPACHY, HEREDITARY
cui	C0345408
Gene Locus	4q34-q35
Gene Symbol	HPGD PHOAR1 PGDH1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU056886 http://purl.bioontology.org/ontology/OMIM/MTHU016807 http://purl.bioontology.org/ontology/OMIM/MTHU056888
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	119900
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	DIGITAL CLUBBING, ISOLATED CONGENITAL
Scope Statement	Caused by mutation in the hydroxyprostaglandin dehydrogenase 15-(NAD) gene (HPGD, 601688.0004) [MOLECULAR BASIS]
tui	T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D010004	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D010004	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/239055005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X50IB	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/239055005	SCTSPA	CUI
http://id.nlm.nih.gov/mesh/D010004	MDM	LOOM