intellectual disability, autosomal recessive 52 (Q55785029): Difference between revisions

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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 2018Timestamp +2018-07-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Mondo ID: MONDO_0014815
-Timestamp
++2018-07-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / OMIM ID: 616887 / reference @@
-stated in: Monarch Disease Ontology release 2018-06-29
retrieved: 28 July 2018Timestamp +2018-07-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Mondo ID: MONDO:0014815
-Timestamp
++2018-07-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / UMLS CUI: C4225168 / reference @@
+stated in: Monarch Disease Ontology release 2018-06-29
retrieved: 28 July 2018Timestamp +2018-07-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Mondo ID: MONDO_0014815
-Timestamp
++2018-07-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / UMLS CUI: C4225168 / reference @@
-stated in: Monarch Disease Ontology release 2018-06-29
retrieved: 28 July 2018Timestamp +2018-07-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Mondo ID: MONDO:0014815
-Timestamp
++2018-07-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Mondo ID @@
-MONDO:0014815
@@ Property / Mondo ID: MONDO:0014815 / rank @@
-Normal rank
@@ Property / Mondo ID: MONDO:0014815 / reference @@
-stated in: Monarch Disease Ontology release 2018-06-29
retrieved: 28 July 2018Timestamp +2018-07-28T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
Mondo ID: MONDO:0014815
-Timestamp
++2018-07-28T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / instance of @@
+rare disease
@@ Property / instance of: rare disease / rank @@
+Normal rank
@@ Property / instance of @@
+disease
@@ Property / instance of: disease / rank @@
+Normal rank
@@ Property / instance of: disease / reference @@
+stated in: Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family
@@ Property / genetic association @@
+LMAN2L
@@ Property / genetic association: LMAN2L / rank @@
+Normal rank
@@ Property / genetic association: LMAN2L / reference @@
+stated in: Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family
@@ Property / genetic association @@
+ASH1L
@@ Property / genetic association: ASH1L / rank @@
+Normal rank
@@ Property / genetic association: ASH1L / reference @@
+stated in: Open Targets Platform
retrieved: 24 August 2023Timestamp +2023-08-24T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
reference URL: https://platform.opentargets.org/evidence/ENSG00000116539/EFO_0009152
based on heuristic: inferred from an Open Targets association score over 0.7
-Timestamp
++2023-08-24T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / subclass of @@
+autosomal recessive non-syndromic intellectual disability
+Normal rank
@@ Property / Experimental Factor Ontology ID @@
+0009152
@@ Property / Experimental Factor Ontology ID: 0009152 / rank @@
+Normal rank
@@ Property / Experimental Factor Ontology ID: 0009152 / reference @@
+based on heuristic: inferred by common MONDO mappings on source and on Wikidata
@@ Property / UniProt disease ID @@
+DI-04697
@@ Property / UniProt disease ID: DI-04697 / rank @@
+Normal rank
@@ Property / Mondo ID @@
+MONDO_0014815
@@ 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
English	intellectual disability, autosomal recessive 52	human disease	Mental Retardation, Autosomal Recessive 52 MRT52 Mental Retardation, Autosomal Recessive type 52