About: Melnick–Needles syndrome

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About: Melnick–Needles syndrome Goto Sponge NotDistinct Permalink

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congenital disorder that affects primarily bone development.

Attributes	Values
rdf:type	Item
owl:sameAs	Melnick–Needles syndrome
description	congenital disorder that affects primarily bone development. (en) malattia congenita che si presenta con esoftalmo, micrognazia e scorretto allineamento dentale (it)
exact match	wds:Q3508673-1A229507-E67A-438C-9388-AC69C71D84E2
exact match	http://www.orpha.net/ORDO/Orphanet_2484
Mondo ID	wds:Q3508673-25B9F012-B8B6-4007-B4DB-8571CABD60C3
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010650
Mondo ID	MONDO_0010650
rdfs:label	Melnick-Needles sendromu (tr) Melnick-Needles-Syndrom (de) Melnick–Needles syndrome (en) Melnick–Needles syndrome (nl) sindrome di Melnick-Needles (it) syndrome de Melnick-Needles (fr)
skos:prefLabel	Melnick-Needles sendromu (tr) Melnick-Needles-Syndrom (de) Melnick–Needles syndrome (en) Melnick–Needles syndrome (nl) sindrome di Melnick-Needles (it) syndrome de Melnick-Needles (fr)
name	Melnick-Needles sendromu (tr) Melnick-Needles-Syndrom (de) Melnick–Needles syndrome (en) Melnick–Needles syndrome (nl) sindrome di Melnick-Needles (it) syndrome de Melnick-Needles (fr)
instance of	wds:Q3508673-152AF091-ECAD-41EE-8381-AC5A796D7B32 wds:Q3508673-67E0D0C1-864B-45B6-B5C4-7765A7F4A317 wds:Q3508673-81B637C8-AEAF-4C7A-863F-CA7C90D8D408
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q3508673-1192534B-4DB7-466F-94FC-D5EAB4A3BF20 wds:Q3508673-385C6934-7A38-4B32-857F-1405408F3275 wds:Q3508673-3FBF99AA-DAE1-40B6-99A6-267EF728AB7D wds:Q3508673-597ef809-4b73-817a-eeda-f5a0746bca63 wds:Q3508673-C0C945FF-B932-465E-B1BB-3A85C3A64B75 wds:Q3508673-ddf34e9a-4b7f-1f3b-301d-f57acd6cadc5
subclass of	X-linked intellectual disability congenital abnormality syndromic developmental defect of the eye otopalatodigital syndrome spectrum disorder multiple congenital anomalies/dysmorphic syndrome without intellectual disability syndromic glaucoma
UniProt disease ID	wds:Q3508673-923e9d40-4f3a-5b24-4d06-af79a769fe13
Orphanet ID	wds:Q3508673-7DF5CE69-8368-4417-AEF8-E27AA02179D0
ICD-9-CM	wds:Q3508673-5337EB4A-97DE-4429-B591-807096A1A67E
genetic association	wds:Q3508673-847322A9-E6E3-4B7B-8B91-41D89935BF2F
ICD-10-CM	wds:Q3508673-71A6E476-49D6-4C9A-8280-E804C634C10B
GARD rare disease ID	wds:Q3508673-AD140C08-F69D-4851-87A3-560FCD73BA6F
OMIM ID	wds:q3508673-2C81FD26-37B7-48CA-AA14-31A980419956
UniProt disease ID	DI-01962
Orphanet ID	2484
ICD-9-CM	756.59
genetic association	FLNA
ICD-10-CM	Q77.8
GARD rare disease ID	7011
OMIM ID	309350
skos:altLabel	MNS (en) MELNICK-NEEDLES SYNDROME (en) MELNICK-NEEDLES SYNDROME; MNS (en) Melnick-Needles Osteodysplasty (en) Melnick–Needles osteodysplasty (en) Osteodysplasty of Melnick and Needles (en) Syndrome de melnick-needles (fr) osteodisplasia di Melnick-Needles (it)
UMLS CUI	wds:Q3508673-4F14B84A-4B55-4CE8-8250-37F917BC4B6D
Microsoft Academic ID	wds:Q3508673-3E19905A-8D14-4275-A5BA-7C0A0AD9D705
Microsoft Academic ID	https://makg.org/entity/2780575981
UMLS CUI	C0025237
Microsoft Academic ID	2780575981
WikiProjectMed ID	wds:Q3508673-A7D6B1BD-FAA4-4A02-ADC9-D2450FFC200F
WikiProjectMed ID	Melnick–Needles syndrome
is about of	Melnick–Needles syndrome https://www.wikidata.org/wiki/Special:EntityData/Q3508673 Melnick–Needles syndrome https://de.wikipedia.org/wiki/Melnick-Needles-Syndrom https://fr.wikipedia.org/wiki/Syndrome_de_Melnick-Needles https://it.wikipedia.org/wiki/Sindrome_di_Melnick-Needles https://tr.wikipedia.org/wiki/Melnick-Needles_sendromu
is main subject of	Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome Melnick-Needles syndrome in males [Osteodysplasia or the Melnick-Needles syndrome; (apropos of a new case)] Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome) [Osteodysplasty (Melnick-Needles syndrome)] Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. A case of osteodysplasty (Melnick-Needles syndrome) [Clinico-radiologic observations on a case of Melnick-Needles syndrome] Noncompaction of the ventricular myocardium in Melnick-Needles syndrome Melnick-Needles syndrome: indication for an autosomal recessive form Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. [Importance of the study of cephalometric values in a patient with Melnick-Needles syndrome (clinical case)] A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males. Atypical skeletal changes in otopalatodigital syndrome type II: Phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders

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