About: mandibulofacial dysostosis with alopecia

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

syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia (en)
exact match	wds:Q21124526-0F105FC3-1785-4FC5-8FF7-2FD3E3E4D17C wds:Q21124526-43D4984C-03ED-43CC-89A1-12A7B2495900 wds:Q21124526-A45D6485-FA54-4C1D-A691-701ED0C1CCF4
exact match	http://purl.obolibrary.org/obo/DOID_0060365 http://identifiers.org/doid/DOID:0060365 http://www.orpha.net/ORDO/Orphanet_443995
Mondo ID	wds:Q21124526-B3365C6F-C2FE-4789-8867-C71B4858C97D
Disease Ontology ID	wds:Q21124526-D4A51A6C-6F90-46CE-93CB-DADD6B591B21
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0014608
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060365
Mondo ID	MONDO_0014608
Disease Ontology ID	DOID:0060365
rdfs:label	dysostose mandibulo-faciale avec alopécie (fr) mandibulofacial dysostosis with alopecia (en)
skos:prefLabel	dysostose mandibulo-faciale avec alopécie (fr) mandibulofacial dysostosis with alopecia (en)
name	dysostose mandibulo-faciale avec alopécie (fr) mandibulofacial dysostosis with alopecia (en)
instance of	wds:Q21124526-28E31729-932E-4419-AE2A-949A5E103E3B wds:Q21124526-2BF588C0-DE20-4B41-9FC8-E256766C5328 wds:Q21124526-BD2693C6-B62D-4B99-B5AE-A01F6B3E2520 wds:Q21124526-DDD13F47-0454-4288-B0CD-B68FB1716486
instance of	class of disease rare disease head and neck disease developmental defect during embryogenesis
subclass of	wds:Q21124526-248FC9B7-D927-4D54-9449-9D962F630C14 wds:Q21124526-4AA9DE76-3018-4DE9-82C5-59FA2B87BCB8 wds:Q21124526-60E26F8A-9AC4-46EA-A011-69B45A3AD64A wds:Q21124526-A2C2AA0E-1E2F-45B4-A939-CD19DD55E717 wds:Q21124526-B605DF0D-0B78-46DA-8FB6-A7833BE87209
subclass of	Treacher Collins syndrome syndrome dysostosis with predominant craniofacial involvement syndromic genetic deafness genetic alopecia
KEGG ID	wds:Q21124526-FF97D27B-40EC-40C3-A201-86624498F412
KEGG ID	http://www.kegg.jp/entry/H02126
KEGG ID	H02126
UniProt disease ID	wds:Q21124526-e390e8c5-4819-bc9e-637f-3a760eef1a0b
Orphanet ID	wds:Q21124526-02d6cea9-43de-aa11-2526-5948a7ea2942
genetic association	wds:Q21124526-19BEC3E8-6DC8-460B-838E-7F549E4C00DD
ICD-10-CM	wds:Q21124526-D346A74D-7960-40B4-8F25-718D471BDA13
OMIM ID	wds:Q21124526-122CF5DE-8DB1-43FD-B2A3-1B016BD69E11
UniProt disease ID	DI-04426
Orphanet ID	443995
genetic association	EDNRA
ICD-10-CM	Q75.4
OMIM ID	616367
skos:altLabel	MFDA (en) MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (en) MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA; MFDA (en)
UMLS CUI	wds:Q21124526-F6E28611-C703-4792-AFF7-40463883179B
on focus list of Wikimedia project	wds:Q21124526-3C3EE18C-10CB-4675-B17A-31F3CC8DF30E
UMLS CUI	C4225349
on focus list of Wikimedia project	WikiProject Medicine
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q21124526
is main subject of	Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation
is main subject of	wds:Q30369032-55FE48B0-19BD-4944-A1C3-72E764F613CA wds:Q35266382-551E319A-4B3C-4F89-AE2D-C8C09C24049C
is genetic association of	EDNRA
is genetic association of	wds:Q390540-6EDCAD50-235F-400D-87B1-3D9E7F93F0AA

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