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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 FLNA 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 A ISO ClinVar Annotator: match by term: Melnick-Needles syndrome
ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles
ClinVar
OMIM
PMID:10982489 PMID:12410386 PMID:12612583 PMID:15194946 PMID:15917206 PMID:16299064 PMID:16417552 PMID:16822260 PMID:17264970 PMID:17632775 PMID:18414213 PMID:18805826 PMID:20598277 PMID:20844545 PMID:21520333 PMID:21836662 PMID:22522697 PMID:25167861 PMID:25649377 PMID:25741868 PMID:26404489 PMID:26467025 PMID:27193221 PMID:28133863 PMID:28454995 PMID:28492532 PMID:31064749 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      bone development disease 1312
        osteochondrodysplasia 446
          otopalatodigital syndrome spectrum disorder 4
            Melnick-Needles syndrome 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Musculoskeletal Abnormalities 1683
            Congenital Limb Deformities 450
              Congenital Upper Extremity Deformities 88
                Congenital Hand Deformities 73
                  otopalatodigital syndrome spectrum disorder 4
                    Melnick-Needles syndrome 1
paths to the root