Medical Subject Headings

Last uploaded: January 31, 2024

Preferred Name	Syndactyly, type 2
Synonyms	Syndactyly, Type II
ID	http://purl.bioontology.org/ontology/MESH/C538153
altLabel	Syndactyly, Type II Synpolydactyly 1 Synpolydactyly
cui	C2699746
HM	D013576
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D013576
MDA	20100825
MeSH Frequency	29
MMR	20160929
notation	C538153
prefLabel	Syndactyly, type 2
SC	3
Scope Statement	Syndactyly characterized by connections between the middle and ring fingers and fourth and fifth toes. It may occur with postaxial POLYDACTYLY in the same digits. Other finger and toe anomalies and metacarpal or metatarsal abnormalities may also be present. It is caused by mutations in the HOXD13 gene. OMIM: 186000
TERMUI	T744898 T826593 T744897 T807899
TH	OMIM (2013) ORD (2010)
tui	T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/MTHU041069	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/715724002	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715724002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/186000	OMIM	CUI
http://www.orpha.net/ORDO/Orphanet_93403	EFO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538153	RH-MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_93403	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12325	HRDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/715724002	SNOMEDCT	LOOM