intellectual disability, autosomal recessive 52 (Q55785029): Difference between revisions
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Created a new Item |
Changed reference of claim: UMLS CUI (P2892): C4225168, см. / see autofix на / on Property talk:P5270 |
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description / uk | description / uk | ||||||||||||||
хвороба людини | |||||||||||||||
Property / OMIM ID: 616887 / reference | |||||||||||||||
stated in: Monarch Disease Ontology release 2018-06-29 retrieved: 28 July 2018
Mondo ID: MONDO_0014815 | |||||||||||||||
Property / OMIM ID: 616887 / reference | |||||||||||||||
retrieved: 28 July 2018
Mondo ID: MONDO:0014815 | |||||||||||||||
Property / UMLS CUI: C4225168 / reference | |||||||||||||||
stated in: Monarch Disease Ontology release 2018-06-29 retrieved: 28 July 2018
Mondo ID: MONDO_0014815 | |||||||||||||||
Property / UMLS CUI: C4225168 / reference | |||||||||||||||
retrieved: 28 July 2018
Mondo ID: MONDO:0014815 | |||||||||||||||
Property / Mondo ID | |||||||||||||||
Property / Mondo ID: MONDO:0014815 / rank | |||||||||||||||
Property / Mondo ID: MONDO:0014815 / reference | |||||||||||||||
retrieved: 28 July 2018
Mondo ID: MONDO:0014815 | |||||||||||||||
Property / instance of | |||||||||||||||
Property / instance of: rare disease / rank | |||||||||||||||
Normal rank | |||||||||||||||
Property / instance of | |||||||||||||||
Property / instance of: disease / rank | |||||||||||||||
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Property / instance of: disease / reference | |||||||||||||||
Property / genetic association | |||||||||||||||
Property / genetic association: LMAN2L / rank | |||||||||||||||
Normal rank | |||||||||||||||
Property / genetic association: LMAN2L / reference | |||||||||||||||
Property / genetic association | |||||||||||||||
Property / genetic association: ASH1L / rank | |||||||||||||||
Normal rank | |||||||||||||||
Property / genetic association: ASH1L / reference | |||||||||||||||
stated in: Open Targets Platform retrieved: 24 August 2023
reference URL: https://platform.opentargets.org/evidence/ENSG00000116539/EFO_0009152 based on heuristic: inferred from an Open Targets association score over 0.7 | |||||||||||||||
Property / subclass of | |||||||||||||||
Property / subclass of: autosomal recessive non-syndromic intellectual disability / rank | |||||||||||||||
Normal rank | |||||||||||||||
Property / Experimental Factor Ontology ID | |||||||||||||||
Property / Experimental Factor Ontology ID: 0009152 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Property / Experimental Factor Ontology ID: 0009152 / reference | |||||||||||||||
Property / UniProt disease ID | |||||||||||||||
Property / UniProt disease ID: DI-04697 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Property / Mondo ID | |||||||||||||||
Property / Mondo ID: MONDO_0014815 / rank | |||||||||||||||
Normal rank |
Latest revision as of 17:38, 26 February 2024
human disease
- Mental Retardation, Autosomal Recessive 52
- MRT52
- Mental Retardation, Autosomal Recessive type 52
Language | Label | Description | Also known as |
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English | intellectual disability, autosomal recessive 52 |
human disease |
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Statements
Identifiers
1 reference
1 reference