About: multiple congenital anomalies/dysmorphic syndrome without intellectual disability

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

About: multiple congenital anomalies/dysmorphic syndrome without intellectual disability Goto Sponge NotDistinct Permalink

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

human disease

Attributes	Values
rdf:type	Item
description	human disease (en) хвороба людини (uk)
exact match	wds:Q55785290-0CCAD8AC-116B-48E5-9C3D-3DA6B7E87C3B
exact match	http://www.orpha.net/ORDO/Orphanet_102285
Mondo ID	wds:Q55785290-2EF740D1-C2D0-42DE-8C9D-CECAF8D5F148
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0015161
Mondo ID	MONDO_0015161
rdfs:label	multiple kongenitalne nepravilnosti/dismorfni sindrom brez intelektualnega primanjkljaja (sl) multiple congenital anomalies/dysmorphic syndrome without intellectual disability (en)
skos:prefLabel	multiple kongenitalne nepravilnosti/dismorfni sindrom brez intelektualnega primanjkljaja (sl) multiple congenital anomalies/dysmorphic syndrome without intellectual disability (en)
name	multiple kongenitalne nepravilnosti/dismorfni sindrom brez intelektualnega primanjkljaja (sl) multiple congenital anomalies/dysmorphic syndrome without intellectual disability (en)
instance of	wds:Q55785290-120944F9-44C1-4B8D-A0DC-44CDF891ACA5 wds:Q55785290-6107F95E-7ACA-46CC-8CFA-ADCBB0D563E9
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q55785290-FB8A0A5B-0692-4B35-A009-C5F815E91BA6
subclass of	multiple congenital anomalies/dysmorphic syndrome
Orphanet ID	wds:Q55785290-E1E7B7E3-C981-42D9-A4CF-4F3F2D462F6E
Orphanet ID	102285
skos:altLabel	MCA without intellectual disability (en) Multiple congenital anomalies without intellectual disability with or without dysmorphism (en)
UMLS CUI	wds:Q55785290-25BC6224-223C-45ED-B53D-A65B3C7FC5AE
UMLS CUI	C5680373
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55785290
is subclass of of	Cyprus facial-neuromusculoskeletal syndrome Vici syndrome Juberg-Hayward syndrome Acrocraniofacial dysostosis Barber-Say syndrome PELVIS syndrome Holt-Oram syndrome McKusick–Kaufman syndrome Abruzzo–Erickson syndrome Binder syndrome Zori–Stalker–Williams syndrome blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Beare-Stevenson cutis gyrata syndrome cherubism FACES syndrome heart defect-tongue hamartoma-polysyndactyly syndrome dislocation of the hip-dysmorphism syndrome Nijmegen breakage syndrome Nablus mask-like facial syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome multiple pterygium syndrome Femoral-facial syndrome 49,XYYYY syndrome scalp–ear–nipple syndrome Aase syndrome cranio–lenticulo–sutural dysplasia dysmorphism-pectus carinatum-joint laxity syndrome anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome CHILD syndrome Melnick–Needles syndrome VACTERL association Ascher's syndrome nasodigitoacoustic syndrome hand-foot-genital syndrome Hirschsprung disease-type D brachydactyly syndrome pentalogy of Cantrell Hirschsprung disease-deafness-polydactyly syndrome Ackerman syndrome Fraser syndrome trigonocephaly-bifid nose-acral anomalies syndrome Warsaw breakage syndrome SHORT syndrome Copenhagen disease branchiooculofacial syndrome Dahlberg Borer Newcomer syndrome Nager acrofacial dysostosis Marshall syndrome Schmitt Gillenwater Kelly syndrome Miller syndrome STAR syndrome microcephaly-albinism-digital anomalies syndrome mesomelic dwarfism-cleft palate-camptodactyly syndrome Townes-Brocks syndrome rapadilino syndrome absent tibia-polydactyly-arachnoid cyst syndrome progenism LADD syndrome Grange syndrome acrofacial dysostosis, Weyers type cleft palate-lateral synechia syndrome Thomas syndrome developmental malformations-deafness-dystonia syndrome Hypertelorism, Teebi type Schilbach-Rott syndrome ichthyosis-oral and digital anomalies syndrome PARC syndrome even-plus syndrome Blepharo-cheilo-odontic syndrome genito-palato-cardiac syndrome Van den Ende-Gupta syndrome Frontofacionasal dysplasia Otoonychoperoneal syndrome Bencze syndrome

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, 190 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software