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short-limb skeletal dysplasia with severe combined immunodeficiency

^ http://purl.obolibrary.org/obo/MONDO_0008704

Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. [ Orphanet:935 ]

Term info

database cross reference
  • UMLS:C1860168 (Orphanet:935)
  • GARD:0000463 (MONDO:equivalentTo)
  • MESH:C565984 (MONDO:equivalentTo)
  • OMIM:200900 (Orphanet:935/e)
  • Orphanet:935 (OMIM:200900)
  • GARD:0002988 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

definition

Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.

exactMatch

https://omim.org/entry/200900, http://linkedlifedata.com/resource/umls/id/C1860168, http://purl.obolibrary.org/obo/Orphanet_935, http://identifiers.org/mesh/C565984

has exact synonym

short-limb skeletal dysplasia with severe combined immunodeficiency, immunodeficiency-short limb dwarfism syndrome, achondroplasia-SCID syndrome, achondroplasia-Swiss type agammaglobulinemia syndrome, short limb skeletal dysplasia with SCID, achondroplasia-severe combined immunodeficiency syndrome

has related synonym

Slsd with SCID, achondroplasia so-called and severe combined immunodeficiency, achondroplasia and Swiss type agammaglobulinemia, agammaglobulinemia and achondroplasia, SLSD with SCID, achondroplasia and Swiss-type agammaglobulinemia, achondroplasia and severe combined immunodeficiency, achondroplasia, so-called, and severe combined immunodeficiency

id

MONDO:0008704

seeAlso

https://rarediseases.info.nih.gov/diseases/2988/achondroplasia-and-severe-combined-immunodeficiency

Term relations