About: Nance-Horan syndrome

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About: Nance-Horan syndrome Goto Sponge NotDistinct Permalink

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

disorder of lens

Attributes	Values
rdf:type	Item
description	seltene angeborene Erkrankung (de) onemocnění čočky (cs) disorder of lens (en)
exact match	wds:Q17144153-92C2E67D-85D3-4190-B4A4-45208F45BFC8 wds:Q17144153-F6777188-DA29-45A7-83C9-C5C6748981EC wds:Q17144153-FDB97504-5F85-4E43-B609-F869571576A5
exact match	http://purl.obolibrary.org/obo/DOID_0060599 http://identifiers.org/doid/DOID:0060599 http://www.orpha.net/ORDO/Orphanet_627
health specialty	wds:Q17144153-05CA8B88-FCAF-4486-95B7-35632957EC74
Mondo ID	wds:Q17144153-4C92DBE3-DC25-4751-AA93-7E4C710CFCFB
Disease Ontology ID	wds:Q17144153-2D193879-4ED1-451A-81C3-F33A151CE67A
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010545
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060599
health specialty	medical genetics
Mondo ID	MONDO_0010545
Disease Ontology ID	DOID:0060599
rdfs:label	Nance-Horan syndrome (en) Nance-Horan-Syndrom (de) Nance–Horanin oireyhtymä (fi) sindromo de Nance-Horan (eo) syndrome de Nance-Horan (fr) Нэнс-Һоран синдромы (tt) متلازمة نانس هوران (ar)
skos:prefLabel	Nance-Horan syndrome (en) Nance-Horan-Syndrom (de) Nance–Horanin oireyhtymä (fi) sindromo de Nance-Horan (eo) syndrome de Nance-Horan (fr) Нэнс-Һоран синдромы (tt) متلازمة نانس هوران (ar)
name	Nance-Horan syndrome (en) Nance-Horan-Syndrom (de) Nance–Horanin oireyhtymä (fi) sindromo de Nance-Horan (eo) syndrome de Nance-Horan (fr) Нэнс-Һоран синдромы (tt) متلازمة نانس هوران (ar)
instance of	wds:Q17144153-48F258EF-A551-4540-AC84-A0463C4A1450 wds:Q17144153-92D831B5-CBD2-4479-BB1C-1CFE64F28FA7 wds:Q17144153-E3446AB3-8503-45EE-8B0B-A2F974725571
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q17144153-029AD318-1145-48C4-90FA-FA96BAFAEB3A wds:Q17144153-340C5393-CED7-4E55-8E65-DB4BC675AA8C wds:Q17144153-6843B7CE-D082-46B3-A834-4667E853BB30 wds:Q17144153-69cd48a4-4cc2-e6e3-7638-9f96f61f2253 wds:Q17144153-8C4D9278-1DD6-48D5-BDF2-1CF25CBAE3B5 wds:Q17144153-B051C9EF-78E5-42A2-99F0-56E4AC5BC706 wds:Q17144153-D1830DA0-9552-4B97-9B30-2690CBA8C938 wds:Q17144153-E6F856EE-4324-4824-A914-191E247B2A23
subclass of	eye disease syndrome dentocutaneous disease with cataract X-linked intellectual disability malformation syndrome with odontal and/or periodontal component rare genetic developmental defect during embryogenesis multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome X-linked dominant disease
KEGG ID	wds:Q17144153-165AA394-75F9-470F-B98D-7060DF37714C
KEGG ID	http://www.kegg.jp/entry/H01292
KEGG ID	H01292
UniProt disease ID	wds:Q17144153-5315d64a-4dd2-5849-5583-4c3cb99c56e3
Orphanet ID	wds:Q17144153-4B440713-44D1-4121-A718-06B61E7001C0
ICD-9-CM	wds:Q17144153-1DE4BE33-CC84-4F23-948E-A78E6538F8E4
genetic association	wds:Q17144153-02CB57F3-19B6-4E71-B2E8-9EBC3208C2F7
ICD-10-CM	wds:Q17144153-9F93C0DC-B31B-4ABB-AF2B-8F119B2BBE9E
GARD rare disease ID	wds:Q17144153-50E09D4F-37A4-4A13-B7C8-6E054BA3F2DE
OMIM ID	wds:Q17144153-DB4A0E24-1342-4BDA-9675-98AB32F12674
UniProt disease ID	DI-02027
Orphanet ID	627
ICD-9-CM	759.89
genetic association	NHS
ICD-10-CM	Q87.0
GARD rare disease ID	7161
OMIM ID	302350
skos:altLabel	NHS (en) Cataract X-linked with Hutchinsonian teeth (en) Cataract dental syndrome (en) Cataract, X-Linked, With Hutchinsonian Teeth (en) Cataract-Dental Syndrome (en) Mesiodens cataract syndrome (en) Mesiodens-Cataract Syndrome (en) NANCE-HORAN SYNDROME (en) NANCE-HORAN SYNDROME; NHS (en)
BabelNet ID	wds:Q17144153-23017A53-B729-41E8-80EF-8197A0A7CD58
UMLS CUI	wds:Q17144153-56A8B73F-748F-4C7C-AFFB-3B4D45EF8D31
MeSH descriptor ID	wds:Q17144153-B357E5E8-65D8-4504-B20A-9D5006C5FD41 wds:Q17144153-DB4AB362-F905-4D34-B29E-DD8148AFBA9E
on focus list of Wikimedia project	wds:Q17144153-C7EE7225-440B-4318-93AB-31CCFD3233B4
Microsoft Academic ID	wds:Q17144153-E357B61B-4B8F-47DD-BCF1-1CADDF6C4432
BabelNet ID	http://babelnet.org/rdf/s16633600n
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C538336
Microsoft Academic ID	https://makg.org/entity/2780437957
BabelNet ID	16633600n
UMLS CUI	C0796085
MeSH descriptor ID	C538336
on focus list of Wikimedia project	WikiProject Medicine

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