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GENE - TERM ANNOTATION REPORT

RGD ID: 14178043
Species: Sus scrofa
RGD Object: Gene
Symbol: INPPL1
Name: inositol polyphosphate phosphatase like 1
Acc ID: DOID:9002202
Term: Opsismodysplasia
Definition: Opsismodysplasia is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges.
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
INPPL1 ISOINPPL1 (Homo sapiens)7240710OMIM  
INPPL1 ISOINPPL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: OpsismodysplasiaPMID:17952091 PMID:23273567 PMID:23273569 PMID:25741868 PMID:25997753 PMID:27456059 PMID:27708270 PMID:28492532 PMID:28869677 PMID:29276006 PMID:34529350
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