About: scalp–ear–nipple syndrome

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About: scalp–ear–nipple syndrome Goto Sponge NotDistinct Permalink

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

human disease

Attributes	Values
rdf:type	Item
owl:sameAs	scalp–ear–nipple syndrome
description	human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk) malaltia humana (ca)
exact match	wds:Q7429841-71CAFE4A-076A-4166-8C11-18E9AB6534CC wds:Q7429841-A1E3D4AB-80DC-4392-8127-569D4644F373 wds:Q7429841-ACA902BB-32C3-451F-B2A4-5754F446DC6B
exact match	http://purl.obolibrary.org/obo/DOID_0111550 http://identifiers.org/doid/DOID:0111550 http://www.orpha.net/ORDO/Orphanet_2036
Mondo ID	wds:Q7429841-0684D071-FA1D-4092-8C3E-3D1CF91FE163
DiseasesDB	wds:q7429841-324BF26A-4D72-4CDC-B03A-C4741B124F1C
Disease Ontology ID	wds:Q7429841-10343B6D-9568-4916-9AFB-BE8322E71715
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008404
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111550
Mondo ID	MONDO_0008404
DiseasesDB	33575
Disease Ontology ID	DOID:0111550
rdfs:label	Kopfhaut-Ohr-Mamillen-Syndrom (de) Zespół Finlaya-Marksa (pl) scalp–ear–nipple syndrome (en) syndrome du cuir chevelu-oreilles-mamelons (fr) síndrome del cuir cabellut-orella-mugró (ca)
skos:prefLabel	Kopfhaut-Ohr-Mamillen-Syndrom (de) Zespół Finlaya-Marksa (pl) scalp–ear–nipple syndrome (en) syndrome du cuir chevelu-oreilles-mamelons (fr) síndrome del cuir cabellut-orella-mugró (ca)
name	Kopfhaut-Ohr-Mamillen-Syndrom (de) Zespół Finlaya-Marksa (pl) scalp–ear–nipple syndrome (en) syndrome du cuir chevelu-oreilles-mamelons (fr) síndrome del cuir cabellut-orella-mugró (ca)
instance of	wds:Q7429841-25D90202-308E-4F38-BE79-7B928BC12347 wds:Q7429841-95AE2DBA-CD3E-499D-AF82-4DCFDAE109EC wds:Q7429841-D314C311-ADC7-41FB-86A8-12C5C78768E4 wds:Q7429841-F01C627C-2A22-44C1-8FA8-742291CF5D93
instance of	class of disease rare disease malformation syndrome developmental defect during embryogenesis
subclass of	wds:Q7429841-3100FAC6-E289-472E-A839-F0744436DB20 wds:Q7429841-73DBB839-F155-496E-A1CD-D0AAD985F0C0 wds:Q7429841-EA737E92-6C28-4788-A420-0AC0E252AC86 wds:Q7429841-FE7E695E-E0CE-45DD-A8A1-5EA63CD84137 wds:Q7429841-FE84F47B-A52F-4AF6-93DF-2A764BCA5BD6 wds:Q7429841-f7916463-4f2f-1f04-485c-f7265d0b695e
subclass of	rare genetic gynecological and obstetrical diseases autosomal dominant disease ectodermal dysplasia multiple congenital anomalies/dysmorphic syndrome without intellectual disability deficient breast volume or number mixed dermis disorder
UniProt disease ID	wds:Q7429841-acdbcca8-4aca-9aa1-357b-a577e9a1fecc
Orphanet ID	wds:Q7429841-c5b09574-4902-c4a8-7ec5-67017bc2ae0a
genetic association	wds:Q7429841-B5808EED-C172-4E08-B65C-0F89BD91F2F4
ICD-10-CM	wds:Q7429841-935F4ACD-418E-41A9-95EB-1989B0DCFE26
GARD rare disease ID	wds:Q7429841-BE3756F6-231B-4886-9C3D-30EBD7EEC28A
OMIM ID	wds:q7429841-9B28AF46-D232-4225-8B96-95913383ADBD
UniProt disease ID	DI-03827
Orphanet ID	2036
genetic association	KCTD1
ICD-10-CM	Q87.8
GARD rare disease ID	159
OMIM ID	181270
skos:altLabel	Sen Syndrome (en) SENS (en) Finlay-Marks syndrome (en) SCALP-EAR-NIPPLE SYNDROME (en) SCALP-EAR-NIPPLE SYNDROME; SENS (en) Syndrome de Finlay-Marks (fr) Zespół Finlaya i Marksa (pl) scalp-ear-nipple syndrome (en)
BabelNet ID	wds:Q7429841-E19E6366-D1CF-400D-AF21-29948ACC75ED
UMLS CUI	wds:Q7429841-10226486-1A81-4162-A507-9495C16EEBAF
MeSH descriptor ID	wds:Q7429841-e95c4807-480d-dc9b-9916-e4e68bb8e732
Microsoft Academic ID	wds:Q7429841-330CDA73-862A-4010-9438-E8E2292294A6
ICD-11 (foundation)	wds:Q7429841-CDCF7B0C-D9D0-4AB4-BFBC-381D2792A0EF
BabelNet ID	http://babelnet.org/rdf/s01903465n
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536623
Microsoft Academic ID	https://makg.org/entity/2776127363
BabelNet ID	01903465n
UMLS CUI	C1867020
MeSH descriptor ID	C536623
Microsoft Academic ID	2776127363
ICD-11 (foundation)	88843032
WikiProjectMed ID	wds:Q7429841-C7980C8A-AEA6-4F71-8B11-9B5FFB311A39
WikiProjectMed ID	Scalp–ear–nipple syndrome
is owl:sameAs of	scalp–ear–nipple syndrome scalp–ear–nipple syndrome
is about of	scalp–ear–nipple syndrome https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_Finlaya-Marksa https://www.wikidata.org/wiki/Special:EntityData/Q7429841 Scalp–ear–nipple syndrome https://de.wikipedia.org/wiki/Kopfhaut-Ohr-Mamillen-Syndrom
is main subject of	Mutations in KCTD1 cause scalp-ear-nipple syndrome Scalp-ear-nipple syndrome: additional manifestations Scalp-ear-nipple syndrome: a case report

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