About: Jansen's metaphyseal chondrodysplasia

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

metaphyseal dysplasia that has material basis in mutation in PTH receptor which results in short-limbed dwarfism

Attributes	Values
rdf:type	Item
owl:sameAs	Jansen's metaphyseal chondrodysplasia
description	Krankheit (de) malattia (it) хвороба (uk) μεταφυσιακή δυσπλασία που έχει υλική μεταλλαγμένη βάση στον υποδοχέα PTH, η οποία οδηγεί σε νανισμό στα άκρα των οστών (el) metaphyseal dysplasia that has material basis in mutation in PTH receptor which results in short-limbed dwarfism (en)
exact match	wds:Q2964433-1A1C3091-E83A-4611-A6F3-0557EAD0F4C5 wds:Q2964433-9E32F0CD-F9A1-4203-9855-131904B86386
exact match	http://purl.obolibrary.org/obo/DOID_0080020 http://identifiers.org/doid/DOID:0080020
Mondo ID	wds:Q2964433-482A152F-5C72-490E-BACD-A17995568F27
DiseasesDB	wds:Q2964433-7F01863B-0281-43A6-8860-5A2C801B0ECD
Disease Ontology ID	wds:Q2964433-04366218-26CC-427E-9FA9-C11A41AA9068
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0000842
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080020
Mondo ID	MONDO_0000842
DiseasesDB	31669
Disease Ontology ID	DOID:0080020
rdfs:label	Μεταφυσιακή χονδροδυσπλασία του Γιάνσεν (el) متلازمة يانسن للتخلخل المشاشي (ar) Jansen's metaphyseal chondrodysplasia (en) Jansenova metafizna hondrodisplazija (bs) Metaphysäre Chondrodysplasie Typ Jansen (de) chondrodysplasie métaphysaire type Jansen (fr)
skos:prefLabel	Μεταφυσιακή χονδροδυσπλασία του Γιάνσεν (el) متلازمة يانسن للتخلخل المشاشي (ar) Jansen's metaphyseal chondrodysplasia (en) Jansenova metafizna hondrodisplazija (bs) Metaphysäre Chondrodysplasie Typ Jansen (de) chondrodysplasie métaphysaire type Jansen (fr)
name	Μεταφυσιακή χονδροδυσπλασία του Γιάνσεν (el) متلازمة يانسن للتخلخل المشاشي (ar) Jansen's metaphyseal chondrodysplasia (en) Jansenova metafizna hondrodisplazija (bs) Metaphysäre Chondrodysplasie Typ Jansen (de) chondrodysplasie métaphysaire type Jansen (fr)
instance of	wds:Q2964433-6873A0EE-9E85-4E7E-86C4-30C9DAF15651 wds:Q2964433-78660AC6-8D1D-4DD1-AD7E-03B5D9C8B6BC
instance of	class of disease rare disease
subclass of	wds:Q2964433-019b2454-4948-52dc-eb65-da3167d0b767 wds:Q2964433-3E08A3CE-EC2C-4234-9849-6C996FEC5D55 wds:Q2964433-92A9F954-0BB4-4E07-8BF1-49DE9DADA18D wds:Q2964433-9a1f923d-4eb9-8cb8-182f-75268c5c2251
subclass of	metaphyseal dysplasia genetic disease autosomal dominant disease metaphyseal chondrodysplasia
UniProt disease ID	wds:Q2964433-b2485443-4792-f40e-4493-e9411d2122d1
Orphanet ID	wds:Q2964433-04AF0AE7-B81E-4507-B3E6-4C175AAB2924
genetic association	wds:Q2964433-AE07D0D4-9965-4262-90E3-6EE31F08DE34
GARD rare disease ID	wds:Q2964433-B2506B62-C4D8-409E-82E1-3D343C51248A
OMIM ID	wds:Q2964433-ebadc663-4916-edd4-5116-1ce24b6bb1ec
UniProt disease ID	DI-01847
Orphanet ID	33067
genetic association	PTH1R
GARD rare disease ID	79
OMIM ID	156400
skos:altLabel	Chondrodysplasie Métaphysaire Type Jansen (fr) Chondrodysplasie metaphysaire type Jansen (fr) Chondrodysplasie métaphysaire type jansen (fr) Jansen Disease (en) Jansen Metaphyseal Dysostosis (en) Jansen metaphyseal chondrodysplasia (en) Murk Jansen Type Metaphyseal Chondrodysplasia (en)
UMLS CUI	wds:Q2964433-B3654E83-BE00-4117-847F-F0CABDD2B9B3
MeSH descriptor ID	wds:Q2964433-5e289940-4736-ea6b-1bb9-bffc6de8de81
on focus list of Wikimedia project	wds:Q2964433-19590129-2349-470C-ABBD-A5C9F977055E
Microsoft Academic ID	wds:Q2964433-23943003-DF93-4F7B-A2D3-586E3801AE34
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537564
Microsoft Academic ID	https://makg.org/entity/2779021780
UMLS CUI	C0265295
MeSH descriptor ID	C537564
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2779021780
has phenotype	wds:Q2964433-957A5D97-5ED1-45D4-9208-E4BDCB328C46
has phenotype	metaphyseal dysplasia
is owl:sameAs of	Jansen's metaphyseal chondrodysplasia Jansen's metaphyseal chondrodysplasia
is about of	Jansen's metaphyseal chondrodysplasia https://www.wikidata.org/wiki/Special:EntityData/Q2964433 Jansen's metaphyseal chondrodysplasia https://de.wikipedia.org/wiki/Metaphys%C3%A4re_Chondrodysplasie_Typ_Jansen https://fr.wikipedia.org/wiki/Chondrodysplasie_m%C3%A9taphysaire_type_Jansen https://ar.wikipedia.org/wiki/%D9%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D9%8A%D8%A7%D9%86%D8%B3%D9%86_%D9%84%D9%84%D8%AA%D8%AE%D9%84%D8%AE%D9%84_%D8%A7%D9%84%D9%85%D8%B4%D8%A7%D8%B4%D9%8A https://bs.wikipedia.org/wiki/Jansenova_metafizna_hondrodisplazija https://el.wikipedia.org/wiki/%CE%9C%CE%B5%CF%84%CE%B1%CF%86%CF%85%CF%83%CE%B9%CE%B1%CE%BA%CE%AE_%CF%87%CE%BF%CE%BD%CE%B4%CF%81%CE%BF%CE%B4%CF%85%CF%83%CF%80%CE%BB%CE%B1%CF%83%CE%AF%CE%B1_%CF%84%CE%BF%CF%85_%CE%93%CE%B9%CE%AC%CE%BD%CF%83%CE%B5%CE%BD
is main subject of	A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation Jansen's metaphyseal chondrodysplasia: a disorder due to a PTH/PTHrP receptor gene mutation Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia The cyclin D1 and cyclin A genes are targets of activated PTH/PTHrP receptors in Jansen's metaphyseal chondrodysplasia Constitutive Activation of the Cyclic Adenosine 3',5'-Monophosphate Signaling Pathway by Parathyroid Hormone (PTH)/PTH-Related Peptide Receptors Mutated at the Two Loci for Jansen's Metaphyseal Chondrodysplasia Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia. Potential Effects of Alendronate on Fibroblast Growth Factor 23 Levels and Effective Control of Hypercalciuria in an Adult with Jansen's Metaphyseal Chondrodysplasia An Inverse Agonist Ligand of the PTH Receptor Partially Rescues Skeletal Defects in a Mouse Model of Jansen's Metaphyseal Chondrodysplasia Murk Jansen's metaphyseal chondrodysplasia with long-term followup

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