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Mondo Disease Ontology
| Preferred Name | inherited ichthyosis | |
| Synonyms |
ichthyosis congenita congenital ichthyosis fish scale disease fish skin hereditary ichthyosis (disease) genetic ichthyosis inherited genetic ichthyosis congenital ichthyosis of skin |
|
| Definitions |
Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015947 |
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| database_cross_reference |
ICD10CM:Q80 GARD:20261 MedDRA:10021202 UMLS:C0856562 Orphanet:183435 ICD9:757.1 MEDGEN:797407 SCTID:13059002 NANDO:1200609 NANDO:2100283
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|
| definition |
Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.
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|
| has_exact_synonym |
hereditary ichthyosis (disease) genetic ichthyosis inherited genetic ichthyosis congenital ichthyosis of skin
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|
| has_related_synonym |
ichthyosis congenita congenital ichthyosis fish scale disease fish skin
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|
| IAO_0000233 | ||
| id |
MONDO:0015947
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
inherited ichthyosis
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|
| notation |
MONDO:0015947
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|
| prefLabel |
inherited ichthyosis
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.bioontology.org/ontology/ICD10CM/Q80 http://identifiers.org/snomedct/13059002 http://purl.obolibrary.org/obo/Orphanet_183435 |
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