About: Norman–Roberts syndrome

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About: Norman–Roberts syndrome Goto Sponge NotDistinct Permalink

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lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. (en)
exact match	wds:Q130555-14F5BD00-3853-409B-814C-DAC4BE2A0FA3 wds:Q130555-B690F6D5-8522-4B1E-B1D9-D27C07CD6BDC wds:Q130555-EFFC849F-E687-484B-8656-C9AB8AD88151
exact match	http://purl.obolibrary.org/obo/DOID_0060902 http://identifiers.org/doid/DOID:0060902 http://www.orpha.net/ORDO/Orphanet_89844
health specialty	wds:Q130555-F538E931-5171-4E3E-8D95-F6358D353AAA
Mondo ID	wds:Q130555-40556F61-3D56-4E98-A6A4-9A600C4A5243
Disease Ontology ID	wds:Q130555-5361D8EF-792B-4015-AA9A-C882610FE7C0
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009760
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060902
health specialty	medical genetics
Mondo ID	MONDO_0009760
Disease Ontology ID	DOID:0060902
rdfs:label	Norman-Roberts-Syndrom (de) Norman-Robertsin lissenkefaliaoireyhtymä (fi) Norman-Robertsov sindrom (bs) Norman–Roberts syndrome (en) Type-2-lissencefalie (nl) syndrome de Norman Roberts (fr) Синдром Норман — Робертс (ru)
skos:prefLabel	Norman-Roberts-Syndrom (de) Norman-Robertsin lissenkefaliaoireyhtymä (fi) Norman-Robertsov sindrom (bs) Norman–Roberts syndrome (en) Type-2-lissencefalie (nl) syndrome de Norman Roberts (fr) Синдром Норман — Робертс (ru)
name	Norman-Roberts-Syndrom (de) Norman-Robertsin lissenkefaliaoireyhtymä (fi) Norman-Robertsov sindrom (bs) Norman–Roberts syndrome (en) Type-2-lissencefalie (nl) syndrome de Norman Roberts (fr) Синдром Норман — Робертс (ru)
Freebase ID	wds:Q130555-59FF5857-1FE5-42D8-88AD-E316BFE8FC6F
Freebase ID	/m/03d72kn
instance of	wds:Q130555-16B06775-67F4-4BF3-9510-6ADCD10919B8 wds:Q130555-901B0AF8-BD3E-4E69-B500-DCA61C889DB0 wds:Q130555-D5FB12F1-05BB-495F-AEF0-CE1582541C02
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q130555-15466883-BD0F-4E38-A1A0-12E24579385B wds:Q130555-17B321F7-612F-411E-BAC4-3656D371E4F4 wds:Q130555-39111903-FDA6-47E3-8E04-A5D1C10F0798 wds:Q130555-3E72F2EB-42BF-401B-A956-DB33811E2B08 wds:Q130555-75B8EEC8-7A2E-4CD4-AF22-E960D0FDE1A1 wds:Q130555-862B3CA7-F2A0-4AA0-B1DC-7837D689C408 wds:Q130555-8636a66a-4de5-d84b-85aa-a8c4bdf5481e wds:Q130555-C2B5A383-A4D8-4F10-9954-B27C46CAF9A0
subclass of	genetic disease lissencephaly Microlissencephaly rare genetic immune disease autosomal recessive disease genetic vascular anomaly primary lymphedema with associated anomalies syndromic lymphedema
UniProt disease ID	wds:Q130555-1f29fef2-49eb-3c31-a682-ee67394ffe14
Orphanet ID	wds:Q130555-5353ADA0-A0E8-4B3E-AE12-D521009A7FA3
genetic association	wds:Q130555-E42A2927-84AF-4BFF-A513-F008D0DE19AA
ICD-10-CM	wds:Q130555-FDD62979-EE00-4634-998F-1CE2F3B49BE3
OMIM ID	wds:Q130555-23249B19-95C9-4D30-A327-DBDC793BBFB0
UniProt disease ID	DI-00671
Orphanet ID	89844
genetic association	RELN
ICD-10-CM	Q04.3
OMIM ID	257320
skos:altLabel	LIS2 (en) LISSENCEPHALY 2; LIS2 (en) Lissencephaly 2 (en) Lissencephaly type 2 (en) Microlissencephaly type A (en) Norman-Roberts syndrome (en) Norman-Roberts syndroom (nl) Norman-Robertsin oireyhtymä (fi) Syndroom van Norman-Roberts (nl) lissencephaly 2 (en) lissencephaly syndrome, Norman-Roberts type (en) Лиссенцефалия 2 (ru) Синдром Норман-Робертс (ru) Синдром Нормана-Робертса (ru)
BabelNet ID	wds:Q130555-E13BF339-BED2-4122-B976-3ADB870C19FD
UMLS CUI	wds:Q130555-8E1BFD64-C91C-400F-949C-2197B595D438
MeSH descriptor ID	wds:Q130555-4E9398C4-CB80-4596-AE0C-082A2C00C6D9 wds:Q130555-BA87F618-0C2F-4979-8C03-FAC170E9B3F0
on focus list of Wikimedia project	wds:Q130555-66D5C1FB-9C28-4A32-9655-D9636BA04825
Microsoft Academic ID	wds:Q130555-7C0B73D3-07C1-4941-A397-FFCFC5B287A2
ICD-11 (foundation)	wds:Q130555-817632d1-4123-5a40-7d13-d50ec5f6fafc
BabelNet ID	http://babelnet.org/rdf/s15670519n
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537848
Microsoft Academic ID	https://makg.org/entity/2776734480
BabelNet ID	15670519n
UMLS CUI	C0796089
MeSH descriptor ID	C537848

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