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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:mucosulfatidosis
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Accession:EFO:MONDO:0010088 term browser browse the term
Definition:Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.
Synonyms:exact_synonym: DOID:0050441;   MSD;   NCIT:C84908;   Orphanet:585;   http://identifiers.org/medgen/75664;   http://identifiers.org/mesh/D052517;   http://identifiers.org/snomedct/54898003;   http://linkedlifedata.com/resource/umls/id/C0268263;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/848083807;   https://omim.org/entry/272200;   multiple sulfatase deficiency disease
 related_synonym: juvenile sulfatidosis;   multiple sulfatase deficiency;   sulfatidosis juvenile, Austin type
 alt_id: MONDO:0010088
 xref: DOID:0050441;   GARD:5061;   MEDGEN:75664;   MESH:D052517;   MIM:272200;   NANDO:1200083;   NANDO:1200624;   NANDO:2200566;   NCI:C84908;   NORD:1471;   ORDO:585;   SCTID:54898003;   UMLS:C0268263;   icd11.foundation:848083807


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  experimental factor 458423
    material property 82794
      disposition 70630
        disease 70547
          integumentary system disease 7029
            mucosulfatidosis 0
Path 2
Term Annotations click to browse term
  experimental factor 458423
    material property 82794
      disposition 70630
        disease 70547
          metabolic disease 5801
            inborn errors of metabolism 196
              inherited lipid metabolism disorder 0
                lysosomal lipid storage disorder 0
                  sphingolipidosis 0
                    mucosulfatidosis 0
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