About: genetic syndromic intellectual disability

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Rare genetic syndromic intellectual disability

Attributes	Values
rdf:type	Item
description	Rare genetic syndromic intellectual disability (en) Ժառանգական համախտանիշ, որի ժամանակ զգալի տուժում է ինտելեկտը (hy)
exact match	wds:Q55785866-54E2D504-D597-41EB-AECA-AE59B8AB13E3
exact match	http://www.orpha.net/ORDO/Orphanet_183763
Mondo ID	wds:Q55785866-304EB47B-C0D3-4452-A169-36803030F36B
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0015983
Mondo ID	MONDO_0015983
rdfs:label	discapacidad intelectual sindrómica genética (es) discapacitat intel·lectual sindical genètica (ca) déficience intellectuelle génétique syndromique (fr) genetic syndromic intellectual disability (en) genetika sindroma intelekta malkapablo (eo) genetska sindromska intelektualna oviranost (sl) մտավոր հետամնացությամբ ժառանգական համախանիշ (hy)
skos:prefLabel	discapacidad intelectual sindrómica genética (es) discapacitat intel·lectual sindical genètica (ca) déficience intellectuelle génétique syndromique (fr) genetic syndromic intellectual disability (en) genetika sindroma intelekta malkapablo (eo) genetska sindromska intelektualna oviranost (sl) մտավոր հետամնացությամբ ժառանգական համախանիշ (hy)
name	discapacidad intelectual sindrómica genética (es) discapacitat intel·lectual sindical genètica (ca) déficience intellectuelle génétique syndromique (fr) genetic syndromic intellectual disability (en) genetika sindroma intelekta malkapablo (eo) genetska sindromska intelektualna oviranost (sl) մտավոր հետամնացությամբ ժառանգական համախանիշ (hy)
instance of	wds:Q55785866-B21AFB25-1303-49DA-B427-2B4EBACC9098
instance of	class of disease
subclass of	wds:Q55785866-C5F3144C-61BD-4889-92F6-37189B2ACA4E wds:Q55785866-F294B795-6013-4F0A-9BFD-11E463F879A6 wds:Q55785866-b7f0094e-4e34-d518-0a9a-099faddd2807
subclass of	genetic disease syndromic intellectual disability genetic intellectual disability
Orphanet ID	wds:Q55785866-2BDE954E-0BE7-49E4-A3DD-43DDD49F2E8C
Orphanet ID	183763
UMLS CUI	wds:Q55785866-4B361885-1DB1-405E-862C-1EC5F903D90B
KBpedia ID	wds:Q55785866-6792671B-94F6-47C4-B6CF-45853DCD12B1
KBpedia ID	rc:GeneticSyndromicIntellectualDisability
UMLS CUI	C5680525
KBpedia ID	GeneticSyndromicIntellectualDisability
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55785866
is subclass of of	Catel–Manzke syndrome Alopecia contractures dwarfism mental retardation Birk-Barel syndrome Mowat-Wilson syndrome Crome syndrome Hall-Riggs syndrome Fine-Lubinsky syndrome microcephaly-deafness-intellectual disability syndrome KBG syndrome Seaver Cassidy syndrome Helsmoortel-Van Der Aa syndrome Halal syndrome Bainbridge Ropers Syndrome hair defect-photosensitivity-intellectual disability syndrome 2q37 monosomy acrocallosal syndrome autosomal dominant non-syndromic intellectual disability 32 7p22.1 microduplication syndrome trichorhinophalangeal syndrome type II cleft palate-short stature-vertebral anomalies syndrome EAST syndrome Gillespie syndrome Costello syndrome NGLY1-deficiency Floating-Harbor syndrome McDonough syndrome Weaver syndrome Gomez and López-Hernández syndrome lissencephaly Lowry–MacLean syndrome Lamb-Shaffer syndrome Myhre syndrome Kapur–Toriello syndrome aniridia ataxia renal agenesis psychomotor retardation optic atrophy-intellectual disability syndrome FBXW7 neurodevelopmental syndrome Potocki-Luspski syndrome Pascual-Castroviejo syndrome Temple-Baraitser syndrome Marden–Walker syndrome hypoparathyroidism-retardation-dysmorphism syndrome Dubowitz syndrome Xia-Gibbs Syndrome cryptorchidism-arachnodactyly-intellectual disability syndrome Pitt-Hopkins syndrome mandibulofacial dysostosis-microcephaly syndrome Zechi-Ceide Syndrome GMS syndrome blepharophimosis-intellectual disability syndrome Laurence-Moon syndrome X-linked intellectual disability renal dysplasia-limb defects syndrome intellectual disability-polydactyly-uncombable hair syndrome HIDEA syndrome Kaufman oculocerebrofacial syndrome

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