About: synpolydactyly

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syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) anomalie congénitale des mains (fr) syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene (en) sindaktilija, za katero je značilno večje število prstov; pogosto je posledica mutacije v genu HOX D13 (sl)
exact match	wds:Q7662637-084D6684-F98F-461D-9D29-3E622E59AD70 wds:Q7662637-0A781ABA-8EF8-4632-99EE-9939204C85F9 wds:Q7662637-0EF05731-12BF-47E7-88E0-46640B13D3C2
exact match	http://purl.obolibrary.org/obo/DOID_0060242 http://identifiers.org/doid/DOID:0060242 http://www.orpha.net/ORDO/Orphanet_295195
Mondo ID	wds:Q7662637-EBCA5DC6-6455-4883-8E9C-3DE71D8DB22A
DiseasesDB	wds:q7662637-3DA22CCA-81B0-447B-AF53-1C23B6DF0C15
Disease Ontology ID	wds:Q7662637-F748841F-BBDD-41D8-B3C0-5E9CD672621F
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0021651
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060242
Mondo ID	MONDO_0021651
DiseasesDB	33019
Disease Ontology ID	DOID:0060242
rdfs:label	sinpolidaktilija (sl) synpolydactylie (fr) synpolydactyly (en) 多合指症 (ja)
skos:prefLabel	sinpolidaktilija (sl) synpolydactylie (fr) synpolydactyly (en) 多合指症 (ja)
name	sinpolidaktilija (sl) synpolydactylie (fr) synpolydactyly (en) 多合指症 (ja)
instance of	wds:Q7662637-0483186B-FA04-4030-AF10-5CF0DCB36FF6 wds:Q7662637-063BA5E5-C414-4B48-A914-F1584DBD8B4F wds:Q7662637-7626F084-88C3-4F6B-9BC3-8A38E4D43345
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q7662637-4eaf1cd4-4699-e2b2-7106-cb1b3f355937 wds:Q7662637-9400fe93-414f-27e3-eec3-4979b428e1e8 wds:Q7662637-C553833D-38A2-49A3-9A10-C55FAE2F36CF
subclass of	syndactyly polydactyly dysostosis of genetic origin with limb anomaly as a major feature
KEGG ID	wds:Q7662637-F7B18796-AA27-482A-B217-B12EFC7EBDB8
KEGG ID	http://www.kegg.jp/entry/H00459
KEGG ID	H00459
Orphanet ID	wds:Q7662637-7273D63A-FD32-428D-93F1-E3CFEC5ABCDC
genetic association	wds:Q7662637-D89CA951-8927-4485-86EE-CF19133CBF10 wds:Q7662637-F8E258D5-0936-4C5C-A45E-054AA3E1A877
GARD rare disease ID	wds:Q7662637-BB3E187D-3F52-43D6-9A2C-9D63E3ECE1CA
OMIM ID	wds:q7662637-1F503704-E258-4AA5-A239-9FF8E5D1F9E6 wds:q7662637-2E1654A9-190D-4B77-BE05-1D66EAF6BD6E wds:q7662637-6401AFA6-2E8A-42E6-A669-A21C7F41D468
Orphanet ID	295195
genetic association	FBLN1 HOXD13
GARD rare disease ID	5087
OMIM ID	186000 608180 610234
skos:altLabel	Synpolydactyly (en) syndactyly type 2 (en)
NCI Thesaurus ID	wds:Q7662637-65982399-859A-4138-86DD-97939B585F74 wds:Q7662637-93A217BE-342E-4073-9F23-099CD3F8B6B7
BabelNet ID	wds:Q7662637-1F216F7E-4168-4862-A3D0-FE9E3242CE15
UMLS CUI	wds:Q7662637-D357C9C3-F1B1-4D08-9D56-978DA2A95141
MeSH descriptor ID	wds:Q7662637-79EA8BD1-0340-42F4-9B51-17FB55853AEA wds:Q7662637-7EE42FDF-D7EA-46A7-A8FF-5694C1C42482
on focus list of Wikimedia project	wds:Q7662637-5BBD2DDC-2225-49A8-AAAC-DE7612E8D573
Microsoft Academic ID	wds:Q7662637-EB612814-6373-4AAC-852D-83E25E40BF5F
BabelNet ID	http://babelnet.org/rdf/s01450248n
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C538153
Microsoft Academic ID	https://makg.org/entity/2781259359
NCI Thesaurus ID	C75003 C75005
BabelNet ID	01450248n
UMLS CUI	C2699746
MeSH descriptor ID	C538153
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2781259359
WikiProjectMed ID	wds:Q7662637-50EF8F8B-6EB0-40B3-9ECD-D149449C8D78
WikiProjectMed ID	Synpolydactyly
is owl:sameAs of	synpolydactyly
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q7662637 Synpolydactyly
is subclass of of	synpolydactyly type 1
is subclass of of	wds:Q9350374-a24eb89c-43fc-00b6-4123-aee63f054664
is main subject of	Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13 Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13 Syndactyly and preaxial synpolydactyly in the single Sfrp2 deleted mutant mice A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly Synpolydactyly in mice with a targeted deficiency in the HoxD complex The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12.

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