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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Melnick-Needles syndrome
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Accession:DOID:0111788 term browser browse the term
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. (DO)
Synonyms:exact_synonym: MNS;   Melnick Needles Osteodysplasty;   Osteodysplasty of Melnick and Needles
 primary_id: OMIM:309350
 xref: GARD:7011;   ORDO:1826


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Melnick-Needles syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles OMIM
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963 		JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:73,057,520...73,067,527
Ensembl chr  X:73,057,520...73,067,524 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:72,960,476...72,965,550
Ensembl chr  X:72,960,479...72,965,550 		JBrowse link
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:72,965,727...72,974,408
Ensembl chr  X:72,965,727...72,974,456 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:73,194,515...73,211,444
Ensembl chr  X:73,194,550...73,211,444 		JBrowse link
G Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:73,220,865...73,252,104
Ensembl chr  X:73,220,865...73,252,106 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    Developmental Disease 17912
      bone development disease 2297
        osteochondrodysplasia 864
          otopalatodigital syndrome spectrum disorder 12
            Melnick-Needles syndrome 9
Path 2
Term Annotations click to browse term
  disease 18302
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        Congenital Abnormalities 7606
          Musculoskeletal Abnormalities 3334
            Congenital Limb Deformities 1026
              Congenital Upper Extremity Deformities 217
                Congenital Hand Deformities 189
                  otopalatodigital syndrome spectrum disorder 12
                    Melnick-Needles syndrome 9
paths to the root