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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:MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND
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Accession:DOID:9009179 term browser browse the term
Definition:This disease is a syndrome characterized by hematologic abnormalities apparent in infancy. Affected individuals have neutropenia, anemia, and variable thrombocytopenia associated with myelofibrosis on bone marrow biopsy. Additional features include severe neurodevelopmental delay with absent speech and inability to walk, delayed bone age, ocular abnormalities, and dysmorphic facial features.
Synonyms:exact_synonym: MFANDO;   congenital myelofibrosis with anemia, neutropenia, developmental delay, and ocular abnormalities
 primary_id: MIM:620939


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MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbsn rabenosyn, RAB effector ISO ClinVar Annotator: match by term: MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES ClinVar
OMIM		 PMID:29784638 NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Neurodevelopmental Disorders 6965
        MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Hemic and Lymphatic Diseases 4344
        hematopoietic system disease 3835
          Hematologic Neoplasms 1089
            Bone Marrow Neoplasms 506
              bone marrow cancer 506
                myeloid neoplasm 322
                  myelofibrosis 29
                    MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND 1
paths to the root