loading...| Preferred Name | Melnick-Needles syndrome | |
| Synonyms |
Melnick-Needles osteodysplasty osteodysplasty of Melnick and Needles MNS |
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| 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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| ID |
http://purl.obolibrary.org/obo/DOID_0111788 |
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| alternative label |
Melnick-Needles osteodysplasty osteodysplasty of Melnick and Needles MNS |
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| database_cross_reference |
OMIM:309350 MEDDRA:10060908 MESH:D010009 SNOMEDCT_US_2023_03_01:13449007 UMLS_CUI:C0025237 GARD:7011 ORDO:1826 |
|
| 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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| has exact synonym |
Melnick-Needles osteodysplasty osteodysplasty of Melnick and Needles MNS |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111788 |
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| in_subset | ||
| label |
Melnick-Needles syndrome |
|
| notation |
DOID:0111788 |
|
| note |
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. |
|
| preferred label |
Melnick-Needles syndrome |
|
| prefLabel |
Melnick-Needles syndrome |
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| subClassOf |