About: Thomas syndrome

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Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.

Attributes	Values
rdf:type	Item
description	Angeborene Erkrankung (de) Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. (en)
ICD-10	wds:Q29014976-8565b2e5-404f-e725-50dd-809b176a86f3
Mondo ID	wds:Q29014976-F308FA59-CF61-43CF-9C20-827E2FB8FB77
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0018043
ICD-10	Q87.8
Mondo ID	MONDO_0018043
rdfs:label	Thomas syndrome (en) Thomas-Syndrom (de) syndrome de Thomas (fr)
skos:prefLabel	Thomas syndrome (en) Thomas-Syndrom (de) syndrome de Thomas (fr)
name	Thomas syndrome (en) Thomas-Syndrom (de) syndrome de Thomas (fr)
instance of	wds:Q29014976-1CAF3EA3-DA4C-430B-A45F-9225687E459C wds:Q29014976-D5B07A88-E1A0-4C86-8A2D-C9C8A6DAB924 wds:Q29014976-DDAAB76A-433F-48EE-9C5A-20BA75E36C65 wds:Q29014976-EF69F7BE-0D27-4AAC-A995-FF8ED5776A76
instance of	class of disease genetic disease head and neck disease developmental defect during embryogenesis
subclass of	wds:Q29014976-2974DF54-306E-4A0C-8E72-91738982AE82 wds:Q29014976-B1D7DCD4-0323-43B3-90A5-450B4C10661C wds:Q29014976-DCD39A9A-8015-4A80-BA94-F975FD30615B wds:Q29014976-EA51453C-5AE0-4F4C-90FE-9182A50C9863 wds:Q29014976-F31FCFCA-BD7B-4700-8083-657A98E39067 wds:Q29014976-ceb2bc7e-4309-eae2-4d51-2abc575259b8
subclass of	multiple abnormalities multiple congenital anomalies/dysmorphic syndrome without intellectual disability orofacial clefting syndrome rare syndrome with cardiac malformations rare abdominal surgical disease syndromic renal or urinary tract malformation
Orphanet ID	wds:Q29014976-3cc1a965-4f13-879c-87b9-7b39994f5917
ICD-10-CM	wds:Q29014976-98CE7477-149E-41DD-AB32-B623FF1CC41E
GARD rare disease ID	wds:Q29014976-9DA0233B-95EA-4101-9F50-5780FC8B3D8B
Orphanet ID	3316
ICD-10-CM	Q87.8
GARD rare disease ID	5175
skos:altLabel	Syndrome de séquence de Potter-fente-cardiopathie (fr) Potter sequence-cleft lip/palate-cardiopathy syndrome (en)
UMLS CUI	wds:Q29014976-5e76ed0f-41fc-4e16-0812-8859033ed9c0
MeSH descriptor ID	wds:Q29014976-4f396e87-4e33-93d5-2256-17145ba07318
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536514
UMLS CUI	C2931225
MeSH descriptor ID	C536514
mode of inheritance	wds:Q29014976-48eadbf4-4bd3-8e8d-9c3f-4b0a97a426a6
mode of inheritance	autosomal recessive
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q29014976 https://de.wikipedia.org/wiki/Thomas-Syndrom
is main subject of	Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature Thomas syndrome: potter sequence with cleft lip/palate and cardiac anomalies Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome? Thomas syndrome: clinical variability and autosomal recessive inheritance
is main subject of	wds:Q38092793-3EE5895A-366A-47A2-8EF8-C3662D612D3A wds:Q53220067-A49587CE-1A0A-448D-AE50-D491ADDF3A04 wds:Q71708885-C185B858-30A1-4AA7-A0E7-745BAD1C0AAF wds:Q73617402-74B34E80-B3A6-45EE-926E-02399F760B7B

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