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Mondo Disease Ontology
| Preferred Name | Gaucher disease perinatal lethal | |
| Synonyms |
fetal Gaucher disease Gaucher's disease perinatal lethal Gaucher disease, perinatal lethal Gaucher disease, perinatal-lethal form perinatal lethal Gaucher disease Gaucher disease perinatal lethal Gaucher disease, collodion type Gaucher disease collodion type foetal Gaucher disease |
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| Definitions |
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD). This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'integumentary system disorder' (MONDO:0002051) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0003-4830-7530) |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0011945 |
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| comment |
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'integumentary system disorder' (MONDO:0002051) ontology branch (https://orcid.org/0000-0001-9310-0163, https://orcid.org/0000-0003-4830-7530)
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| database_cross_reference |
MEDGEN:374996 SCTID:870313002 Orphanet:85212 GARD:10675 DOID:0110960 UMLS:C1842704 OMIM:608013 MESH:C564306
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| definition |
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).
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| has_exact_synonym |
fetal Gaucher disease Gaucher's disease perinatal lethal Gaucher disease, perinatal lethal Gaucher disease, perinatal-lethal form perinatal lethal Gaucher disease Gaucher disease perinatal lethal Gaucher disease, collodion type Gaucher disease collodion type foetal Gaucher disease
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| IAO_0000233 | ||
| id |
MONDO:0011945
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_subtype_of_a_disorder |
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| label |
Gaucher disease perinatal lethal
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| notation |
MONDO:0011945
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| prefLabel |
Gaucher disease perinatal lethal
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_0110960 http://linkedlifedata.com/resource/umls/id/C1842704 http://purl.obolibrary.org/obo/Orphanet_85212 http://identifiers.org/medgen/374996 |
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