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ONTOLOGY REPORT - ANNOTATIONS


Term:Three M Syndrome 2
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Accession:DOID:9006598 term browser browse the term
Definition:3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips. 3M2 is caused by homozygous or compound heterozygous mutation in the OBSL1 gene on chromosome 2q35. (OMIM)
Synonyms:exact_synonym: 3M SYNDROME 2;   3M2
 primary_id: MESH:C567862
 alt_id: OMIM:612921;   RDO:0012070
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Three M Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Obsl1 obscurin-like 1 JBrowse link 9 82,673,871 82,699,577 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      endocrine system disease 4712
        Dwarfism 302
          3-M syndrome 3
            Three M Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          monogenic disease 3227
            autosomal genetic disease 2164
              autosomal recessive disease 1265
                3-M syndrome 3
                  Three M Syndrome 2 1
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