About: Desbuquois dysplasia

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osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx (en)
exact match	wds:Q17122800-017C4C6B-B778-41A2-9B56-F2BDF1B4752F wds:Q17122800-3C60019D-DB43-4156-B59A-1808C620FB39 wds:Q17122800-5269AD08-8DF5-4E54-BFC4-3A7ADBF47FAE
exact match	http://purl.obolibrary.org/obo/DOID_0060462 http://identifiers.org/doid/DOID:0060462 http://www.orpha.net/ORDO/Orphanet_1425
Disease Ontology ID	wds:Q17122800-263F2F7A-BEFF-4E41-BA2F-68ACC4018778
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060462
Disease Ontology ID	DOID:0060462
rdfs:label	Desbuquois dysplasia (en) Desbuquois-Syndrom (de) Syndrome de Desbuquois (fr)
skos:prefLabel	Desbuquois dysplasia (en) Desbuquois-Syndrom (de) Syndrome de Desbuquois (fr)
name	Desbuquois dysplasia (en) Desbuquois-Syndrom (de) Syndrome de Desbuquois (fr)
instance of	wds:Q17122800-889FB12C-0C53-48CC-97FE-89C7A1F96B78 wds:Q17122800-FDDF74F4-4DF3-46BF-A47A-47FA3ED35B12
instance of	class of disease rare disease
subclass of	wds:Q17122800-9198770E-43C3-448D-A297-33F4E44C5319
subclass of	multiple epiphyseal dysplasia
Google Knowledge Graph ID	wds:Q17122800-867789B8-458F-48A5-A3AD-2DD302770273
KEGG ID	wds:Q17122800-A4EB3830-76E2-4F7C-938C-39F2CC074351
Google Knowledge Graph ID	http://g.co/kg/g/1s054m1g2
KEGG ID	http://www.kegg.jp/entry/H00494
Google Knowledge Graph ID	/g/1s054m1g2
KEGG ID	H00494
UniProt disease ID	wds:Q17122800-2d93ca24-4deb-f516-a816-483606e29061
Orphanet ID	wds:Q17122800-75188214-1696-4758-B61F-DC7CC4EE8928
genetic association	wds:Q17122800-15C8A34E-E1D9-4EAA-BFFD-574C195A72D2 wds:Q17122800-26294778-D48A-4565-A79F-3240E41918B6
GARD rare disease ID	wds:Q17122800-2B460398-027B-4E7B-A7A2-5E290B4268B9
OMIM ID	wds:Q17122800-973795f9-45b9-7e36-61c2-b7b2bfbf68c1 wds:Q17122800-C0C2F0EC-FB01-4493-A023-499749864685
UniProt disease ID	DI-02521
Orphanet ID	1425
genetic association	CANT1 XYLT1
GARD rare disease ID	1818
OMIM ID	251450 615777
skos:altLabel	micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification (en) Desbuquois syndrome (en) Dysplasie de Desbuquois (fr) syndrome de Desbuquois (fr)
NCI Thesaurus ID	wds:Q17122800-579BD5FD-0DC2-4B6C-8A60-7335D37198D1
UMLS CUI	wds:Q17122800-F6FBB623-BB1E-43D4-B5E0-941131B4E167
MeSH descriptor ID	wds:Q17122800-FFC25F82-9804-41FA-A7C0-86FF5808872D
on focus list of Wikimedia project	wds:Q17122800-B6D2109F-FA4E-4D1D-90E1-B286E8851BAD
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535943
NCI Thesaurus ID	C124056
UMLS CUI	C0432242
MeSH descriptor ID	C535943
on focus list of Wikimedia project	WikiProject Medicine
is owl:sameAs of	Desbuquois dysplasia Desbuquois dysplasia
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q17122800 https://de.wikipedia.org/wiki/Desbuquois-Syndrom
is subclass of of	Baratela-Scott syndrome
is subclass of of	wds:Q55999537-28fa1ff8-4246-f68c-9f6d-2da90f703815
is main subject of	Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Clinical and genetic heterogeneity in Desbuquois dysplasia Mutation of CANT1 causes Desbuquois dysplasia XYLT1 mutations in Desbuquois dysplasia type 2. Lethality in Desbuquois dysplasia: three new cases Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. Desbuquois syndrome: three further cases and review of the literature. Desbuquois syndrome in an Arab Bedouin family A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign. A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. Desbuquois dysplasia, a reevaluation with abnormal and ?normal? hands: Radiographic manifestations Desbuquois syndrome: clinical, radiographic, and morphologic characterization Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: another observation Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency. Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings. Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II [Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I] Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients. Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage A novel syndrome resembling Desbuquois dysplasia Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family. Pathological case of the month: Desbuquois syndrome Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis. A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type. Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.

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