About: Langer mesomelic dysplasia

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Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs

Attributes	Values
rdf:type	Item
description	Krankheit (de) malattia (it) хвороба (uk) Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs (en)
exact match	wds:Q16550087-1EEE77F0-6E53-4410-A0C9-B81B3F53C6E5
exact match	http://www.orpha.net/ORDO/Orphanet_2632
health specialty	wds:Q16550087-67C066DD-80EF-4D9F-A5EC-BE587C53C8EC
ICD-10	wds:Q16550087-89abea82-4e56-4d9c-c452-90f47b4b427c
Mondo ID	wds:Q16550087-143A3854-ACF2-4496-B2FE-C8066879FC32
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009588
health specialty	medical genetics
ICD-10	Q87.1
Mondo ID	MONDO_0009588
rdfs:label	Displasia mesomélica de Langer (es) Langer mesomelic dysplasia (en) Mesomele Dysplasie Typ Langer (de) displasia mesomelica di Langer (it) dysplasie mésomélique type Langer (fr)
skos:prefLabel	Displasia mesomélica de Langer (es) Langer mesomelic dysplasia (en) Mesomele Dysplasie Typ Langer (de) displasia mesomelica di Langer (it) dysplasie mésomélique type Langer (fr)
name	Displasia mesomélica de Langer (es) Langer mesomelic dysplasia (en) Mesomele Dysplasie Typ Langer (de) displasia mesomelica di Langer (it) dysplasie mésomélique type Langer (fr)
instance of	wds:Q16550087-4C861ADB-48AF-4479-8B06-EC41D10077D8 wds:Q16550087-DFB9E1CD-85C6-4781-8A31-5DD8A93B6FB5
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q16550087-301906F4-C934-4E3B-9FA8-122774D3B9BB wds:Q16550087-97c207f8-4669-a11e-1d5d-48f05e5970f3
subclass of	mesomelia mesomelic and rhizo-mesomelic dysplasia
UniProt disease ID	wds:Q16550087-859c60cd-4fd5-3f0a-a5e5-a48f555504dd
Orphanet ID	wds:Q16550087-f76bbf81-4edf-342a-392f-41bac4b84979
ICD-9-CM	wds:Q16550087-A007B986-A343-42DB-A00F-C3153CEBE96E
genetic association	wds:Q16550087-A23EAD28-D980-451D-A974-4D7F0A9B8556
ICD-10-CM	wds:Q16550087-5D6B6A1C-84FB-4244-99FF-8ECE220F52BF
GARD rare disease ID	wds:Q16550087-80BA9F42-8878-4AB1-8AB7-FFADDF6D5793
OMIM ID	wds:Q16550087-5da6b767-4c03-a49e-81e6-ba6e3ca90dc7
Genetics Home Reference Conditions ID	wds:Q16550087-1108E625-3E6A-4225-9A1B-4F17CF08C233
UniProt disease ID	DI-01876
Orphanet ID	2632
ICD-9-CM	756.59
genetic association	SHOX
ICD-10-CM	Q87.1
GARD rare disease ID	3553
OMIM ID	249700
Genetics Home Reference Conditions ID	langer-mesomelic-dysplasia
skos:altLabel	LMD (en) Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, and Mandible Type (en) Displasia mesomelica de Langer (es) Dyschondrosteosis, Homozygous (en) LANGER MESOMELIC DYSPLASIA (en) LANGER MESOMELIC DYSPLASIA; LMD (en) Langer Syndrome (en) Langer Type Mesomelic Dysplasia (en) Mesomelic dwarfism, Langer type (en) Mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type (en)
NCI Thesaurus ID	wds:Q16550087-ACAAC401-EF97-4DAF-BD6A-B8A2A79E24F3
UMLS CUI	wds:Q16550087-A35D4588-F358-4E19-A722-2047D8364D2B
MeSH descriptor ID	wds:Q16550087-2f20e501-4b68-7bb0-1db1-5aca04a5266b
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537267
NCI Thesaurus ID	C126876
UMLS CUI	C0432230
MeSH descriptor ID	C537267
WikiProjectMed ID	wds:Q16550087-1539B5A6-03E1-4176-8780-77126AF70FE6
WikiProjectMed ID	Langer mesomelic dysplasia
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q16550087 Langer mesomelic dysplasia https://de.wikipedia.org/wiki/Mesomele_Dysplasie_Typ_Langer https://it.wikipedia.org/wiki/Displasia_mesomelica_di_Langer https://es.wikipedia.org/wiki/Displasia_mesom%C3%A9lica_de_Langer
is genetic association of	SHOX
is genetic association of	wds:Q20781917-0E31430A-D979-4F24-AB93-EB8F84978A57
is established from medical condition of	GM20212 GM20213 GM20214 GM20217 GM20218 GM20215 GM20216
is established from medical condition of	wds:Q54850844-80C514AF-4C01-4653-85E4-EAA237C0E772 wds:Q54850845-20981B04-5EC7-4AB3-B346-EDA702EE1D56 wds:Q54850846-74E3630B-D8FA-4D3B-B524-C11CBE1D963F wds:Q54850849-AE51CB9F-FA42-4400-A574-5ABED1E27391 wds:Q54850850-C6904DE0-DE94-4EAC-881B-D743BC59A473 wds:Q54850847-44F51A57-8597-4C41-9817-4E8AAD0342B1 wds:Q54850848-5BCBFB3E-F425-4560-9A11-86C19CB9EFC0

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