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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:30311386, PMID:31064749 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          otopalatodigital syndrome spectrum disorder 4
            Melnick-Needles syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Congenital Limb Deformities 504
              Congenital Upper Extremity Deformities 88
                Congenital Hand Deformities 72
                  otopalatodigital syndrome spectrum disorder 4
                    Melnick-Needles syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.