About: Fuhrmann syndrome

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Fuhrmann syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly

Attributes	Values
rdf:type	Item
description	seltene Erbkrankheit (de) Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly (en)
exact match	wds:Q18411838-1B5E930C-E657-437C-B9B7-82D1F8473F18 wds:Q18411838-3EA54217-CB88-4F23-9175-6B9368C3B715 wds:Q18411838-984C884A-B185-423B-BF12-BF901355CD6E
exact match	http://purl.obolibrary.org/obo/DOID_0090067 http://identifiers.org/doid/DOID:0090067 http://www.orpha.net/ORDO/Orphanet_2854
health specialty	wds:Q18411838-62E2DFBB-30DE-44E1-9943-C54E9AC75EC0
Mondo ID	wds:Q18411838-5E0B26F0-8F93-45DA-A91C-DB9C462A781A
Disease Ontology ID	wds:Q18411838-42C08A4F-931F-4A53-8304-34DCFEC97874
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009232
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0090067
health specialty	medical genetics
Mondo ID	MONDO_0009232
Disease Ontology ID	DOID:0090067
rdfs:label	Fuhrmann syndrome (en) Fuhrmann-Syndrom (de) Fuhrmannin oireyhtymä (fi) syndrome de Furhmann (fr)
skos:prefLabel	Fuhrmann syndrome (en) Fuhrmann-Syndrom (de) Fuhrmannin oireyhtymä (fi) syndrome de Furhmann (fr)
name	Fuhrmann syndrome (en) Fuhrmann-Syndrom (de) Fuhrmannin oireyhtymä (fi) syndrome de Furhmann (fr)
instance of	wds:Q18411838-566402CB-901D-4ED0-98C0-FBE0A9500901 wds:Q18411838-6584F9C7-A234-46D3-974A-D037EBC3C85B wds:Q18411838-A6A37F88-5DC3-494C-A404-8BA006667F14 wds:Q18411838-D432A637-B322-4098-970D-EF2B38D17571
instance of	class of disease hereditary disorder head and neck disease developmental defect during embryogenesis
subclass of	wds:Q18411838-11BFE23B-FF03-46B5-8C23-15382BA3043B wds:Q18411838-3D61ADF9-4226-4001-8D19-7F4EADBCB993 wds:Q18411838-D38A1EE4-AC55-45C7-9419-11E4B99E6F7A wds:Q18411838-E066FD14-D829-43A1-BF7D-1A7E1124167E wds:Q18411838-E64DC166-1CE5-4BB7-BEB1-A6A9F4A7C342 wds:Q18411838-F86F9E62-2F91-4BAD-A84B-4B85B09BABF0
subclass of	genetic disease syndrome with limb reduction defects autosomal recessive disease bone development disease orofacial clefting syndrome syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
KEGG ID	wds:Q18411838-43BE8BE1-37A6-408A-B520-CAF21EC9FBF9
KEGG ID	http://www.kegg.jp/entry/H00846
KEGG ID	H00846
UniProt disease ID	wds:Q18411838-066b3a26-4183-e1c4-005b-a69ae4f73e41
Orphanet ID	wds:Q18411838-D02852FF-F5C2-4D20-ABF3-111C0D85FF44
genetic association	wds:Q18411838-3136E454-63EA-47E2-B026-D24A019A3F1C
ICD-10-CM	wds:Q18411838-6BEB95A8-7286-47E4-A4C6-FA7E0D476A3D
GARD rare disease ID	wds:Q18411838-2F177CD2-ECD7-4A1B-96D2-D25CC4930029
OMIM ID	wds:Q18411838-3D7429EA-A3FE-4B9C-B22C-2B8B8915F040
UniProt disease ID	DI-01637
Orphanet ID	2854
genetic association	WNT7A
ICD-10-CM	Q74.8
GARD rare disease ID	2410
OMIM ID	228930
skos:altLabel	FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY (en) Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome (en) Fuhrmann Syndrome (en) Fuhrmann-Rieger-de Sousa syndrome (en) Bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies (en)
UMLS CUI	wds:Q18411838-59762F98-B136-4379-B70E-346C64E568B0
MeSH descriptor ID	wds:Q18411838-7F2E8940-A2E0-4262-8CF7-71A1E4D4FF9B wds:Q18411838-e250f781-45b9-24ea-6e56-b286be53b738
on focus list of Wikimedia project	wds:Q18411838-48DFFB34-E6B2-47F6-94D4-3C0165E86503
ICD-11 (foundation)	wds:Q18411838-9fb56ea3-4696-0e16-c8da-0367a3680dff
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C538189
UMLS CUI	C1856728
MeSH descriptor ID	C538189
on focus list of Wikimedia project	WikiProject Medicine
ICD-11 (foundation)	2028077140
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18411838 https://de.wikipedia.org/wiki/Fuhrmann-Syndrom https://fi.wikipedia.org/wiki/Fuhrmannin_oireyhtym%C3%A4
is main subject of	Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: Two further cases The WNT7A G204S mutation is associated with both Al-Awadi–Raas Rothschild syndrome and Fuhrmann syndrome phenotypes Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome Fuhrmann syndrome associated with cortical dysplasia. Fuhrmann syndrome: two Brazilian cases A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome
is main subject of	wds:Q36940668-2C6BC927-AC29-4D33-B1FD-17887B1A73CA wds:Q48892826-0A2C2076-7232-479A-B334-3D99805B2FA8 wds:Q73684996-1797A7A4-D5B8-4AD5-8E73-D41861499291 wds:Q24296426-59ED2724-4EA8-494C-A820-98EC59C2B6B2 wds:Q87901294-4D17D782-3EDD-44C6-BE5C-F5E97CDAA0DB wds:Q87211828-D9769C5F-7DA6-47C5-B434-98F8F0E43B5C wds:Q59406158-86278EBE-4D4B-4697-A30C-A86631ADFD10
is genetic association of	WNT7A
is genetic association of	wds:Q18032363-7607E281-F1D0-4B46-948D-91C419C7FA3F

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 172 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software