About: Haim–Munk syndrome

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Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis

Attributes	Values
rdf:type	Item
description	Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis (en)
exact match	wds:Q5639341-72FB4639-FDB8-44AA-98BB-78D8A282996A
exact match	http://www.orpha.net/ORDO/Orphanet_2342
health specialty	wds:Q5639341-9BDC3BCA-67CD-472A-A99F-7FB2E086AE77
ICD-10	wds:q5639341-44442386-0D62-4D5F-92CC-B9FD58265D10
Mondo ID	wds:Q5639341-160469C0-C4A7-4D6B-B917-1EF6B4F8D56E
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009491
health specialty	medical genetics
ICD-10	Q82.8
Mondo ID	MONDO_0009491
rdfs:label	Haim-Munk sendromu (tr) Haim-Munk-Syndrom (de) Haim–Munk syndrome (en) Zespół Haima-Munka (pl) syndrome de Haim-Munk (fr) سندرم حاییم-مانک (fa) متلازمة حاييم مونك (ar)
skos:prefLabel	Haim-Munk sendromu (tr) Haim-Munk-Syndrom (de) Haim–Munk syndrome (en) Zespół Haima-Munka (pl) syndrome de Haim-Munk (fr) سندرم حاییم-مانک (fa) متلازمة حاييم مونك (ar)
name	Haim-Munk sendromu (tr) Haim-Munk-Syndrom (de) Haim–Munk syndrome (en) Zespół Haima-Munka (pl) syndrome de Haim-Munk (fr) سندرم حاییم-مانک (fa) متلازمة حاييم مونك (ar)
instance of	wds:Q5639341-81951361-E4B1-45CA-B630-97877C927D13 wds:Q5639341-90452B3C-5354-4768-A9B8-59AFB1BF912A wds:Q5639341-D22E9CAB-3EC8-4449-912F-834F60E39621
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q5639341-22CA1256-B2A2-4E42-A85E-933647366174 wds:Q5639341-3DA83B14-EA07-489B-BF96-9FADACAAD696 wds:Q5639341-7164EDEC-7B9E-4EAB-BA3A-2A3FA6E7EA80 wds:Q5639341-99d65581-4baa-4988-7695-8788b620cc66 wds:Q5639341-E9DACFD4-AAA9-4E88-8873-C291AB4EB7EF wds:Q5639341-FA85F871-5F34-4C83-AB41-967383E3174C
subclass of	palmoplantar keratosis autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature malformation syndrome with odontal and/or periodontal component rare genetic developmental defect during embryogenesis developmental anomaly of metabolic origin disorder of lysosomal-related organelles
KEGG ID	wds:Q5639341-99F2CDAD-83BC-431E-A690-308CA812B90B
KEGG ID	http://www.kegg.jp/entry/H00696
KEGG ID	H00696
UniProt disease ID	wds:Q5639341-ea49ffaa-48d6-ffcc-f184-19ab59536d2c
Orphanet ID	wds:Q5639341-0e9bf9a2-4b59-0ece-5e52-13115881e0a6
genetic association	wds:Q5639341-6D1384D2-0CA4-4C84-B722-8026D3FC3AAB
ICD-10-CM	wds:Q5639341-DA849F8B-E390-4673-92F5-C3A9C314F62C
GARD rare disease ID	wds:Q5639341-04C5636A-5EB7-4F98-82B6-77A9A6247B88
OMIM ID	wds:q5639341-416529DE-0D0B-49F9-9624-E9CCE365F9AA
UniProt disease ID	DI-00539
Orphanet ID	2342
genetic association	CTSC
ICD-10-CM	Q82.8
GARD rare disease ID	44
OMIM ID	245010
skos:altLabel	HMS (en) Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome (en) Cochin Jewish Disorder (en) HAIM-MUNK SYNDROME (en) HAIM-MUNK SYNDROME; HMS (en) Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome (en) Keratosis Palmoplantaris With Periodontopathia and Onychogryposis (en) Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome (en)
UMLS CUI	wds:Q5639341-97E1366D-B62E-4033-9287-5905D6AD15D7
UK Parliament thesaurus ID	wds:Q5639341-70779529-F648-4230-A2AE-0554AA76A86C
MeSH descriptor ID	wds:Q5639341-3BD855B7-F2E2-4CED-BEB3-D6461135219D
Microsoft Academic ID	wds:Q5639341-AEBAC18E-2C1B-44C8-89C9-45DAB9C8EE07
UK Parliament thesaurus ID	http://data.parliament.uk/terms/443901
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537627
Microsoft Academic ID	https://makg.org/entity/2776707792
UMLS CUI	C1855627
UK Parliament thesaurus ID	443901
MeSH descriptor ID	C537627
Microsoft Academic ID	2776707792
WikiProjectMed ID	wds:Q5639341-E1EFB9D4-4AC5-44A3-B9FA-EF5D502E19E8
WikiProjectMed ID	Haim–Munk syndrome
is owl:sameAs of	Haim–Munk syndrome
is about of	https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_Haima-Munka https://www.wikidata.org/wiki/Special:EntityData/Q5639341 Haim–Munk syndrome https://de.wikipedia.org/wiki/Haim-Munk-Syndrom https://ar.wikipedia.org/wiki/%D9%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D8%AD%D8%A7%D9%8A%D9%8A%D9%85_%D9%85%D9%88%D9%86%D9%83 https://fa.wikipedia.org/wiki/%D8%B3%D9%86%D8%AF%D8%B1%D9%85_%D8%AD%D8%A7%DB%8C%DB%8C%D9%85-%D9%85%D8%A7%D9%86%DA%A9 https://tr.wikipedia.org/wiki/Haim-Munk_sendromu
is genetic association of	CTSC
is genetic association of	wds:Q14902080-D6BAF0F0-360A-4783-9B15-97F98E277E6B

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