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Human Disease Ontology
Last uploaded:
March 3, 2025
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Id | http://purl.obolibrary.org/obo/DOID_0111788
http://purl.obolibrary.org/obo/DOID_0111788
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Preferred Name | Melnick-Needles syndrome |
Definitions |
An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28.
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Synonyms |
Melnick-Needles osteodysplasty
osteodysplasty of Melnick and Needles
MNS
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. |
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label | Melnick-Needles syndrome
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prefLabel | Melnick-Needles syndrome
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database_cross_reference |
MEDDRA:10060908
MESH:D010009
SNOMEDCT_US_2023_03_01:13449007
UMLS_CUI:C0025237
GARD:7011
MIM:309350
ORDO:1826
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notation | DOID:0111788
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in_subset | |
id | DOID:0111788
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has material basis in | |
has_obo_namespace | disease_ontology
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subClassOf | |
type | |
has exact synonym |
Melnick-Needles osteodysplasty
osteodysplasty of Melnick and Needles
MNS
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