About: proximal symphalangism

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autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness

Attributes	Values
rdf:type	Item
description	Krankheit (de) maladie (fr) хвороба (uk) autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness (en)
exact match	wds:Q18553473-5B68328F-A625-4119-85B3-2E2F7CA1066A wds:Q18553473-78A77DD9-ECA1-4883-8430-CD4077C870AF wds:Q18553473-A7C84F00-6707-4AAC-8D6B-57FB789B7399 wds:Q18553473-F0E3376F-2FC6-4C7C-B0FF-0B719370695F
exact match	http://purl.obolibrary.org/obo/DOID_0050788 http://purl.obolibrary.org/obo/HP_0100264 http://identifiers.org/doid/DOID:0050788 http://www.orpha.net/ORDO/Orphanet_3250
Mondo ID	wds:Q18553473-2B619FCE-97FC-4943-9DD7-B4E43FE88F0A
Disease Ontology ID	wds:Q18553473-C0CCDD72-DF19-4F52-A2A5-579695944E33
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008511
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0050788
Mondo ID	MONDO_0008511
Disease Ontology ID	DOID:0050788
rdfs:label	Síndrome de Strasburger-Hawkins-Eldridge (es) proximal symphalangism (en) symphalangisme de Cushing (fr)
skos:prefLabel	Síndrome de Strasburger-Hawkins-Eldridge (es) proximal symphalangism (en) symphalangisme de Cushing (fr)
name	Síndrome de Strasburger-Hawkins-Eldridge (es) proximal symphalangism (en) symphalangisme de Cushing (fr)
instance of	wds:Q18553473-2160111B-5300-4904-ACB2-8CE1489DA25F wds:Q18553473-940DE518-6873-4F5D-9152-EF816A5EB747
instance of	class of disease rare disease
subclass of	wds:Q18553473-07FA4DF8-C593-447A-BB91-F429EE0EF44C wds:Q18553473-7388eeb4-48ea-9a89-ff12-696f258d2cda wds:Q18553473-83E0D873-2373-463F-B1D8-D2E1A7FCD60B
subclass of	syndrome syndactyly autosomal dominant disease
KEGG ID	wds:Q18553473-F16A3DAC-2E8D-4BBE-BCB0-B4CC340AB99F
KEGG ID	http://www.kegg.jp/entry/H00851
KEGG ID	H00851
UniProt disease ID	wds:Q18553473-72d8d313-407f-960b-f627-93727d692ddd
Orphanet ID	wds:Q18553473-bb5b8cff-4e0a-0978-1769-34d7b3929911
genetic association	wds:Q18553473-AF9F2E70-C66B-4E9B-A7B3-46FD4FE6CB76 wds:Q18553473-BF54AF6A-EB66-47E1-96AC-7DFD256C4C4B
ICD-10-CM	wds:Q18553473-4EC9B251-BB23-4119-A71C-CCFECF9E50B0
GARD rare disease ID	wds:Q18553473-2788F0FE-1178-41B8-ACEE-E5F28D77E495
OMIM ID	wds:Q18553473-590B5474-89A2-4A99-B41A-F33A3C699680
UniProt disease ID	DI-02350
Orphanet ID	3250
genetic association	GDF5 NOG
ICD-10-CM	Q70.9
GARD rare disease ID	8182
OMIM ID	185800
Human Phenotype Ontology ID	wds:Q18553473-FBEFBB3E-F551-438B-9110-1D89852863E7
Human Phenotype Ontology ID	HP:0100264
skos:altLabel	Cushing Symphalangism (en) Cushing's symphalangism (en) Hereditary Absence of the Proximal Interphalangeal Joints (en) SYM1A (en) SYMPHALANGISM, PROXIMAL, 1A (en) SYMPHALANGISM, PROXIMAL, 1A; SYM1A (en) Sym1 (en) Symphalangie proximale (fr) Symphalangism, Cushing type (en) Symphalangism, Proximal, type 1A (en)
UMLS CUI	wds:Q18553473-5E63AD78-D2EE-4B88-9ACC-02BC81EA34CE wds:Q18553473-861CB198-59AE-412F-B2CA-12EB0231287A wds:Q18553473-895206A3-7793-4742-A2AF-D28D1F77AC8A
MeSH descriptor ID	wds:Q18553473-32a2376d-470d-0580-836e-8a6dd5f8a47f wds:Q18553473-4FFE3111-E943-4EFB-898D-3F07EBB3E7DA
on focus list of Wikimedia project	wds:Q18553473-7BF96CD4-DE1C-4CBA-A5DF-B838D92A3E0B
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536223
UMLS CUI	C1861385 C3714899
MeSH descriptor ID	C536223
on focus list of Wikimedia project	WikiProject Medicine
is owl:sameAs of	proximal symphalangism
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18553473 https://es.wikipedia.org/wiki/S%C3%ADndrome_de_Strasburger-Hawkins-Eldridge
is subclass of of	proximal symphalangism 2 proximal symphalangism 1
is subclass of of	wds:Q102293516-59522557-B353-406E-A837-C72932398C81 wds:Q102293757-2185C1FC-A3E4-4061-844E-92114280AA6E
is main subject of	Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22 Cushing proximal symphalangism and the NOG and GDF5 genes A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations. Stapes fixation and proximal symphalangism caused by autosomal dominant transmission (author's transl) Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family. Identification of a Novel Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions Proximal Symphalangism of Fingers Associated with Fusion of Os Naviculare and Talus and Occurrence of two Accessory Bones in the Feet (Os Paranaviculare and Os Tibiale Externum) in an European – Indonesian – Chinese Family Stapes fixation and proximal symphalangism Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family

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