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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:ichthyosis prematurity syndrome
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Accession:EFO:MONDO:0012089 term browser browse the term
Definition:Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.
Synonyms:exact_synonym: IPS;   NCIT:C62590;   Orphanet:88621;   congenital ichthyosis type 4;   http://identifiers.org/medgen/324839;   http://identifiers.org/mesh/C536271;   http://identifiers.org/snomedct/12381000132107;   http://linkedlifedata.com/resource/umls/id/C1837610;   https://omim.org/entry/608649;   idiopathic pneumonia syndrome
 related_synonym: ichthyosis congenita 4;   ichthyosis congenita IV
 alt_id: MONDO:0012089
 xref: GARD:9886;   MEDGEN:324839;   MESH:C536271;   MIM:608649;   NCI:C62590;   ORDO:88621;   SCTID:12381000132107;   UMLS:C1837610
 see_also: https://rarediseases.info.nih.gov/diseases/9886/ichthyosis-prematurity-syndrome" xsd:anyURI {source="GARD:0009886


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            ichthyosis prematurity syndrome 0
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  experimental factor 0
    material property 0
      disposition 0
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          respiratory system disease 0
            lower respiratory tract disease 0
              lung disease 0
                pneumonitis 0
                  ichthyosis prematurity syndrome 0
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