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Metadata
ID DOID:0111788
Name Melnick-Needles syndrome
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 FLNA on chromosome Xq28.
https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/12612583, https://www.ncbi.nlm.nih.gov/pubmed/16538226
Xrefs

GARD:7011

MEDDRA:10060908

MESH:D010009

OMIM:309350

ORDO:1826

SNOMEDCT_US_2020_09_01:13449007

UMLS_CUI:C0025237

Synonyms

Melnick-Needles osteodysplasty [EXACT]

MNS [EXACT]

osteodysplasty of Melnick and Needles [EXACT]

Parent Relationships

is_a otopalatodigital syndrome spectrum disorder

is_a X-linked monogenic disease

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