{ "uniprot_canonical_ac": "A2AA28-1", "ptm_annotation": [], "sequence": { "header": "sp|A2AA28-1|MET23_MOUSE Isoform 1 of Methyltransferase-like protein 23 OS=Mus musculus OX=10090 GN=Mettl23 PE=2 SV=1 CANONICAL=A2AA28-1", "length": 253, "sequence": "MDSVRPRAPWAPPPDPASLDSPTCEPGLMAGTQLFRFREEPVPGGNRAVLEVRVPQVLHVQYGMYVWPCAVVLAQYLWFHRRSLPGKAVLEVGAGVSLPGILAAKCGAKVILSDSSEFPHCLDICRQSCQMNNLPQVEVVGLTWGHISKDILSLPPQDIILGSDVFFEPEDFESILATVYFLMQKNPKVQFWSTYQVRSADWSLEGLLYKWDMKCVHIPLESFDADKEDIAESTLPGRHTVEMLIISFAKDSF" }, "uniprot_id": "H3BKP4_MOUSE", "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AA28", "id": "A2AA28", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12520002", "type": "PubMed", "id": "12520002" } ], "title": "BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.", "journal": "Nucleic acids research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_083141.3", "id": "NP_083141.3", "database": "RefSeq" } ], "authors": "Stryke D, Kawamoto M, Huang CC, Johns SJ, King LA, Harper CA, Meng EC, Lee RE, Yee A, L'Italien L, Chuang PT, Young SG, Skarnes WC, Babbitt PC, Ferrin TE", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18564434", "type": "PubMed", "id": "18564434" } ], "title": "Genomic structure and expression of Jmjd6 and evolutionary analysis in the context of related JmjC domain containing proteins.", "journal": "BMC genomics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_083141.3", "id": "NP_083141.3", "database": "RefSeq" } ], "authors": "Hahn P, Bose J, Edler S, Lengeling A", "date": "2008" } ], "uniprot_ac": "A2AA28", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AA28", "type": "synonym", "resource": "RefSeq", "name": "1110005A03Rik; 1500035B17Rik; 4933424L15Rik" }, { "url": "https://www.uniprot.org/uniprot/A2AA28", "type": "synonym", "resource": "UniProtKB", "name": "1110005A03Rik" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AA28", "type": "synonym", "resource": "RefSeq", "name": "Mettl23" }, { "url": "https://www.uniprot.org/uniprot/A2AA28", "type": "recommended", "resource": "UniProtKB", "name": "Mettl23" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AA28#A2AA28-1", "isoform_ac": "A2AA28-1", "locus": { "end_pos": 116843607, "strand": "-", "start_pos": 116849552, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000106370", "id": "ENSMUST00000106370", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000101978", "id": "ENSMUSP00000101978", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2AA28-1|MET23_MOUSE Isoform 1 of Methyltransferase-like protein 23 OS=Mus musculus OX=10090 GN=Mettl23 PE=2 SV=1 CANONICAL=A2AA28-1", "length": 253, "sequence": "MDSVRPRAPWAPPPDPASLDSPTCEPGLMAGTQLFRFREEPVPGGNRAVLEVRVPQVLHVQYGMYVWPCAVVLAQYLWFHRRSLPGKAVLEVGAGVSLPGILAAKCGAKVILSDSSEFPHCLDICRQSCQMNNLPQVEVVGLTWGHISKDILSLPPQDIILGSDVFFEPEDFESILATVYFLMQKNPKVQFWSTYQVRSADWSLEGLLYKWDMKCVHIPLESFDADKEDIAESTLPGRHTVEMLIISFAKDSF" } }, { "url": "https://www.uniprot.org/uniprot/A2AA28#B7ZC87-1", "isoform_ac": "B7ZC87-1", "locus": { "end_pos": 116848901, "strand": "-", "start_pos": 116854091, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000143184", "id": "ENSMUST00000143184", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000119131", "id": "ENSMUSP00000119131", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B7ZC87-1|B7ZC87_MOUSE Computationally mapped isoform of Methyltransferase-like protein 23 OS=Mus musculus OX=10090 GN=Mettl23 PE=1 SV=1 CANONICAL=A2AA28-1", "length": 110, "sequence": "VGAGVSLPGILAAKCGAKVILSDSSEFPHCLDICRQSCQMNNLPQVEVVGLTWGHISKDILSLPPQDIILGSDVFFEPEGLSGGSTGGEEVTVLGRCWPLSKRSQNVPGV" } }, { "url": "https://www.uniprot.org/uniprot/A2AA28#H3BKB2-1", "isoform_ac": "H3BKB2-1", "locus": { "end_pos": 116843675, "strand": "-", "start_pos": 116845890, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000140869", "id": "ENSMUST00000140869", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000135321", "id": "ENSMUSP00000135321", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BKB2-1|H3BKB2_MOUSE Computationally mapped isoform of Methyltransferase-like protein 23 OS=Mus musculus OX=10090 GN=Mettl23 PE=1 SV=1 CANONICAL=A2AA28-1", "length": 76, "sequence": "XCEPGLMAGTQLFRFREEPVPGGNRAVLEVRVPQINFLLELMAHALNPSFNPSIQKAEARGSLEFEANIVCTVTTQ" } }, { "url": "https://www.uniprot.org/uniprot/A2AA28#H3BKP4-1", "isoform_ac": "H3BKP4-1", "locus": { "end_pos": 116843675, "strand": "-", "start_pos": 116845856, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000132593", "id": "ENSMUST00000132593", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000135469", "id": "ENSMUSP00000135469", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BKP4-1|H3BKP4_MOUSE Computationally mapped isoform of Methyltransferase-like protein 23 OS=Mus musculus OX=10090 GN=Mettl23 PE=1 SV=1 CANONICAL=A2AA28-1", "length": 46, "sequence": "XCEPGLMAGTQLFRFREEPVPGGNRAVLEVRVPQHSKGRGKRITGV" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:74319", "resource": "KEGG Pathway", "id": "mmu:74319", "name": "" } ], "reaction_participants": [], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_083141.3", "annotation": "Located immediately downstream of Jmjd6, with a bi-directionar promoter between the two. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_083141.3", "id": "NP_083141.3", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2AA28#function", "annotation": "Probable methyltransferase.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AA28#function", "id": "A2AA28", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q5RJL2-1", "protein_name": "Methyltransferase-like protein 23", "sequence": { "length": 225, "sequence": "MAGARLFRFRDEPGPGADPTVLEVRVPQVLHVQYGMYVWPCAVVLAQYLWFHRRVLPGKAVLEIGAGVSLPGILAAKCGAKVTLSDSPELPHCLDICWQSCQMNNLPQVQIVGLTWGHISKDTLSLPPQDIILGSDVFFEPEDFESILATVYFLMQKNPKVQFWSTYQVRSADWSLEGLLYKWDMRCVHIPLESFDADKEDIAESTLPGRHTIEMLIISFAKDSS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2AA28/", "id": "A2AA28", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/12552", "id": "12552", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Mettl23", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q86XA0-1", "protein_name": "Methyltransferase-like protein 23", "sequence": { "length": 190, "sequence": "MYVWPCAVVLAQYLWFHRRSLPGKAILEIGAGVSLPGILAAKCGAEVILSDSSELPHCLEVCRQSCQMNNLPHLQVVGLTWGHISWDLLALPPQDIILASDVFFEPEDFEDILATIYFLMHKNPKVQLWSTYQVRSADWSLEALLYKWDMKCVHIPLESFDADKEDIAESTLPGRHTVEMLVISFAKDSL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12552", "id": "12552", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "METTL23", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_083141.3", "ac": "NP_083141.3", "name": "methyltransferase-like protein 23", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008168", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AA28", "id": "A2AA28", "database": "UniProtKB" } ], "name": "methyltransferase activity", "id": "GO:0008168" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AA28", "id": "A2AA28", "database": "UniProtKB" } ], "name": "heat shock protein binding", "id": "GO:0031072" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008134", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AA28", "id": "A2AA28", "database": "UniProtKB" } ], "name": "transcription factor binding", "id": "GO:0008134" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AA28", "id": "A2AA28", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AA28", "id": "A2AA28", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AA28", "id": "A2AA28", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AA28", "id": "A2AA28", "database": "UniProtKB" } ], "name": "protein-containing complex", "id": "GO:0032991" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AA28", "id": "A2AA28", "database": "UniProtKB" } ], "name": "methylation", "id": "GO:0032259" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AA28", "id": "A2AA28", "database": "UniProtKB" } ], "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AA28", "id": "A2AA28", "database": "UniProtKB" } ], "name": "cognition", "id": "GO:0050890" } ], "total": 3, "name": "Biological Process" } ] }, "site_annotation": [], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000090266", "id": "ENSMUSG00000090266", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/74319", "id": "74319", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019410", "id": "IPR019410", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029063", "id": "IPR029063", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:74319", "id": "mmu:74319", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:1921569", "id": "1921569", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/TWPCAPV/", "id": "TWPCAPV", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1588190at2759", "id": "1588190at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14614", "id": "PTHR14614", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF10294", "id": "PF10294", "database": "Pfam" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2AA28", "id": "PR_A2AA28", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_083141", "id": "NP_083141", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_083141.3", "id": "NP_083141.3", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2AA28", "id": "A2AA28", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2AA28-1", "id": "A2AA28-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/B7ZC87", "id": "B7ZC87", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/B7ZC87-1", "id": "B7ZC87-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BKB2", "id": "H3BKB2", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BKB2-1", "id": "H3BKB2-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BKP4", "id": "H3BKP4", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H3BKP4-1", "id": "H3BKP4-1", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "disease_id": "DOID:0060308", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:0060308", "resource": "Disease Ontology", "description": "", "name": "autosomal recessive non-syndromic mental retardation", "id": "DOID:0060308" }, { "url": "http://disease-ontology.org/term/DOID:0060308", "resource": "Disease Ontology", "description": "", "name": "autosomal recessive mental retardation", "id": "DOID:0060308" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009580", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene.", "name": "intellectual disability, autosomal recessive 1", "id": "MONDO:0009580" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009580", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12", "id": "MONDO:0009580" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009580", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 1; MRT1", "id": "MONDO:0009580" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009580", "resource": "MONDO", "description": "", "name": "PRSS12 autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0009580" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009580", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 1", "id": "MONDO:0009580" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009580", "resource": "MONDO", "description": "", "name": "MRT1", "id": "MONDO:0009580" }, { "url": "https://monarchinitiative.org/disease/MONDO:0009580", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 1", "id": "MONDO:0009580" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014210", "resource": "MONDO", "description": "", "name": "intellectual disability-hypotonia-spasticity-sleep disorder syndrome", "id": "MONDO:0014210" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014210", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 37; MRT37", "id": "MONDO:0014210" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014210", "resource": "MONDO", "description": "", "name": "MRT37", "id": "MONDO:0014210" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014210", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 37", "id": "MONDO:0014210" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014210", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 37", "id": "MONDO:0014210" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014224", "resource": "MONDO", "description": "Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.", "name": "developmental delay with autism spectrum disorder and gait instability", "id": "MONDO:0014224" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014224", "resource": "MONDO", "description": "", "name": "developmental delay with ASD and gait instability", "id": "MONDO:0014224" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014224", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 38", "id": "MONDO:0014224" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014224", "resource": "MONDO", "description": "", "name": "MRT38", "id": "MONDO:0014224" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014224", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 38", "id": "MONDO:0014224" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014224", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 38; MRT38", "id": "MONDO:0014224" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013528", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene.", "name": "intellectual disability, autosomal recessive 14", "id": "MONDO:0013528" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013528", "resource": "MONDO", "description": "", "name": "MRT14", "id": "MONDO:0013528" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013528", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in TECR", "id": "MONDO:0013528" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013528", "resource": "MONDO", "description": "", "name": "TECR autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0013528" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013528", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 14; MRT14", "id": "MONDO:0013528" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013528", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 14", "id": "MONDO:0013528" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013528", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 14", "id": "MONDO:0013528" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014273", "resource": "MONDO", "description": "Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.", "name": "microcephaly-thin corpus callosum-intellectual disability syndrome", "id": "MONDO:0014273" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014273", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 40", "id": "MONDO:0014273" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014273", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 40", "id": "MONDO:0014273" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014273", "resource": "MONDO", "description": "", "name": "MRT40", "id": "MONDO:0014273" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014273", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 40; MRT40", "id": "MONDO:0014273" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013697", "resource": "MONDO", "description": "", "name": "MRT29", "id": "MONDO:0013697" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013697", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 29; MRT29", "id": "MONDO:0013697" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013697", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 29", "id": "MONDO:0013697" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013697", "resource": "MONDO", "description": "", "name": "MRT29", "id": "MONDO:0013697" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014348", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.", "name": "intellectual disability, autosomal recessive 42", "id": "MONDO:0014348" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014348", "resource": "MONDO", "description": "", "name": "MRT42", "id": "MONDO:0014348" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014348", "resource": "MONDO", "description": "", "name": "glycosylphosphatidylinositol biosynthesis defect 9", "id": "MONDO:0014348" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014348", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 42", "id": "MONDO:0014348" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014348", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 42", "id": "MONDO:0014348" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014348", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1", "id": "MONDO:0014348" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014348", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 42; MRT42", "id": "MONDO:0014348" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014348", "resource": "MONDO", "description": "", "name": "PGAP1 autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0014348" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012037", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.", "name": "intellectual disability, autosomal recessive 3", "id": "MONDO:0012037" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012037", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 3; MRT3", "id": "MONDO:0012037" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012037", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 3", "id": "MONDO:0012037" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012037", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A", "id": "MONDO:0012037" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012037", "resource": "MONDO", "description": "", "name": "MRT3", "id": "MONDO:0012037" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012037", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 3", "id": "MONDO:0012037" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012037", "resource": "MONDO", "description": "", "name": "CC2D1A autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0012037" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014289", "resource": "MONDO", "description": "Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.", "name": "macrocephaly-developmental delay syndrome", "id": "MONDO:0014289" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014289", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 41", "id": "MONDO:0014289" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014289", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 41", "id": "MONDO:0014289" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014289", "resource": "MONDO", "description": "", "name": "MRT41", "id": "MONDO:0014289" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014289", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 41; MRT41", "id": "MONDO:0014289" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013694", "resource": "MONDO", "description": "", "name": "MRT31", "id": "MONDO:0013694" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013694", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 31", "id": "MONDO:0013694" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013694", "resource": "MONDO", "description": "", "name": "MRT31", "id": "MONDO:0013694" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013694", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 31; MRT31", "id": "MONDO:0013694" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014409", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene.", "name": "intellectual disability, autosomal recessive 44", "id": "MONDO:0014409" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014409", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 44", "id": "MONDO:0014409" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014409", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 44", "id": "MONDO:0014409" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014409", "resource": "MONDO", "description": "", "name": "MRT44", "id": "MONDO:0014409" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014409", "resource": "MONDO", "description": "", "name": "METTL23 autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0014409" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014409", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 44; MRT44", "id": "MONDO:0014409" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014409", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23", "id": "MONDO:0014409" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012623", "resource": "MONDO", "description": "", "name": "MRT4", "id": "MONDO:0012623" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012623", "resource": "MONDO", "description": "", "name": "MRT4", "id": "MONDO:0012623" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012623", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 4; MRT4", "id": "MONDO:0012623" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012623", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 4", "id": "MONDO:0012623" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011828", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.", "name": "intellectual disability, autosomal recessive 2", "id": "MONDO:0011828" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011828", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 2", "id": "MONDO:0011828" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011828", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 2A", "id": "MONDO:0011828" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011828", "resource": "MONDO", "description": "", "name": "CRBN autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0011828" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011828", "resource": "MONDO", "description": "", "name": "MRT2", "id": "MONDO:0011828" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011828", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 2; MRT2", "id": "MONDO:0011828" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011828", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 2", "id": "MONDO:0011828" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011828", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN", "id": "MONDO:0011828" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013708", "resource": "MONDO", "description": "", "name": "MRT25", "id": "MONDO:0013708" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013708", "resource": "MONDO", "description": "", "name": "MRT25", "id": "MONDO:0013708" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013708", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 25; MRT25", "id": "MONDO:0013708" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013708", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 25", "id": "MONDO:0013708" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013709", "resource": "MONDO", "description": "", "name": "MRT28", "id": "MONDO:0013709" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013709", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 28", "id": "MONDO:0013709" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013709", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 28; MRT28", "id": "MONDO:0013709" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013709", "resource": "MONDO", "description": "", "name": "MRT28", "id": "MONDO:0013709" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013706", "resource": "MONDO", "description": "", "name": "MRT23", "id": "MONDO:0013706" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013706", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 23; MRT23", "id": "MONDO:0013706" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013706", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 23", "id": "MONDO:0013706" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013706", "resource": "MONDO", "description": "", "name": "MRT23", "id": "MONDO:0013706" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013707", "resource": "MONDO", "description": "", "name": "MRT24", "id": "MONDO:0013707" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013707", "resource": "MONDO", "description": "", "name": "MRT24", "id": "MONDO:0013707" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013707", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 24; MRT24", "id": "MONDO:0013707" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013707", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 24", "id": "MONDO:0013707" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013704", "resource": "MONDO", "description": "", "name": "MRT30", "id": "MONDO:0013704" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013704", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 30; MRT30", "id": "MONDO:0013704" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013704", "resource": "MONDO", "description": "", "name": "MRT30", "id": "MONDO:0013704" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013704", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 30", "id": "MONDO:0013704" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013705", "resource": "MONDO", "description": "", "name": "MRT19", "id": "MONDO:0013705" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013705", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 19", "id": "MONDO:0013705" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013705", "resource": "MONDO", "description": "", "name": "MRT19", "id": "MONDO:0013705" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013705", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 19; MRT19", "id": "MONDO:0013705" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013702", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.", "name": "intellectual disability, autosomal recessive 27", "id": "MONDO:0013702" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013702", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 27", "id": "MONDO:0013702" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013702", "resource": "MONDO", "description": "", "name": "MRT27", "id": "MONDO:0013702" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013702", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 27; MRT27", "id": "MONDO:0013702" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013702", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1", "id": "MONDO:0013702" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013702", "resource": "MONDO", "description": "", "name": "LINS1 autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0013702" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013702", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 27", "id": "MONDO:0013702" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013703", "resource": "MONDO", "description": "", "name": "MRT33", "id": "MONDO:0013703" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013703", "resource": "MONDO", "description": "", "name": "MRT33", "id": "MONDO:0013703" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013703", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 33", "id": "MONDO:0013703" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013703", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 33; MRT33", "id": "MONDO:0013703" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012617", "resource": "MONDO", "description": "", "name": "MRT9", "id": "MONDO:0012617" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012617", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 26", "id": "MONDO:0012617" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012617", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 9", "id": "MONDO:0012617" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012617", "resource": "MONDO", "description": "", "name": "MRT9", "id": "MONDO:0012617" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012617", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 9; MRT9", "id": "MONDO:0012617" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012619", "resource": "MONDO", "description": "", "name": "MRT11", "id": "MONDO:0012619" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012619", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 11", "id": "MONDO:0012619" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012619", "resource": "MONDO", "description": "", "name": "MRT11", "id": "MONDO:0012619" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012619", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 11; MRT11", "id": "MONDO:0012619" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012613", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.", "name": "intellectual disability, autosomal recessive 5", "id": "MONDO:0012613" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012613", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 5; MRT5", "id": "MONDO:0012613" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012613", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 5", "id": "MONDO:0012613" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012613", "resource": "MONDO", "description": "", "name": "MRT5", "id": "MONDO:0012613" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012613", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2", "id": "MONDO:0012613" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012613", "resource": "MONDO", "description": "", "name": "NSUN2 autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0012613" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012613", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 5", "id": "MONDO:0012613" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012612", "resource": "MONDO", "description": "", "name": "intellectual disability, autosomal recessive 12", "id": "MONDO:0012612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012612", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 12", "id": "MONDO:0012612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012612", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 12", "id": "MONDO:0012612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012612", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 12; MRT12", "id": "MONDO:0012612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012612", "resource": "MONDO", "description": "", "name": "MRT12", "id": "MONDO:0012612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012615", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.", "name": "intellectual disability, autosomal recessive 7", "id": "MONDO:0012615" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012615", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 7; MRT7", "id": "MONDO:0012615" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012615", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 7", "id": "MONDO:0012615" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012615", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3", "id": "MONDO:0012615" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012615", "resource": "MONDO", "description": "", "name": "TUSC3 autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0012615" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012615", "resource": "MONDO", "description": "", "name": "MRT7", "id": "MONDO:0012615" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012615", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 22", "id": "MONDO:0012615" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012615", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 7", "id": "MONDO:0012615" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014238", "resource": "MONDO", "description": "", "name": "severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome", "id": "MONDO:0014238" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014238", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 39", "id": "MONDO:0014238" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014238", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 39", "id": "MONDO:0014238" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014238", "resource": "MONDO", "description": "", "name": "MRT39", "id": "MONDO:0014238" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014238", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 39; MRT39", "id": "MONDO:0014238" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014354", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene.", "name": "intellectual disability, autosomal recessive 43", "id": "MONDO:0014354" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014354", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 43; MRT43", "id": "MONDO:0014354" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014354", "resource": "MONDO", "description": "", "name": "MRT43", "id": "MONDO:0014354" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014354", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 43", "id": "MONDO:0014354" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014354", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 43", "id": "MONDO:0014354" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014354", "resource": "MONDO", "description": "", "name": "WASHC4 autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0014354" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014354", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4", "id": "MONDO:0014354" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013785", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene.", "name": "intellectual disability, autosomal recessive 34", "id": "MONDO:0013785" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013785", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 34, with variant lissencephaly; MRT34", "id": "MONDO:0013785" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013785", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 34", "id": "MONDO:0013785" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013785", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD", "id": "MONDO:0013785" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013785", "resource": "MONDO", "description": "", "name": "MRT34", "id": "MONDO:0013785" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013785", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 34, with variant lissencephaly", "id": "MONDO:0013785" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013785", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 34; MRT34", "id": "MONDO:0013785" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013785", "resource": "MONDO", "description": "", "name": "CRADD autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0013785" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013785", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 34", "id": "MONDO:0013785" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013651", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.", "name": "intellectual disability, autosomal recessive 18", "id": "MONDO:0013651" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013651", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 18; MRT18", "id": "MONDO:0013651" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013651", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in MED23", "id": "MONDO:0013651" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013651", "resource": "MONDO", "description": "", "name": "autosomal recessive nonsyndromic mental retardation-18", "id": "MONDO:0013651" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013651", "resource": "MONDO", "description": "", "name": "MED23", "id": "MONDO:0013651" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013651", "resource": "MONDO", "description": "", "name": "MRT18", "id": "MONDO:0013651" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013651", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 18", "id": "MONDO:0013651" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013651", "resource": "MONDO", "description": "", "name": "MED23 autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0013651" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013651", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 18", "id": "MONDO:0013651" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012618", "resource": "MONDO", "description": "", "name": "MRT10", "id": "MONDO:0012618" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012618", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 10; MRT10", "id": "MONDO:0012618" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012618", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 20", "id": "MONDO:0012618" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012618", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 10", "id": "MONDO:0012618" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012618", "resource": "MONDO", "description": "", "name": "MRT10", "id": "MONDO:0012618" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012614", "resource": "MONDO", "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.", "name": "intellectual disability, autosomal recessive 6", "id": "MONDO:0012614" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012614", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 6; MRT6", "id": "MONDO:0012614" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012614", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 6", "id": "MONDO:0012614" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012614", "resource": "MONDO", "description": "", "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2", "id": "MONDO:0012614" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012614", "resource": "MONDO", "description": "", "name": "MRT6", "id": "MONDO:0012614" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012614", "resource": "MONDO", "description": "", "name": "GRIK2 autosomal recessive non-syndromic intellectual disability", "id": "MONDO:0012614" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012614", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive type 6", "id": "MONDO:0012614" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013629", "resource": "MONDO", "description": "", "name": "MRT16", "id": "MONDO:0013629" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013629", "resource": "MONDO", "description": "", "name": "MRT16", "id": "MONDO:0013629" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013629", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 16", "id": "MONDO:0013629" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013629", "resource": "MONDO", "description": "", "name": "mental retardation, autosomal recessive 16; MRT16", "id": "MONDO:0013629" }, { "url": "https://www.omim.org/entry/249500", "resource": "MIM", "description": "Mental retardation, autosomal recessive 1", "name": "Mental retardation, autosomal recessive 1", "id": "MIM:249500" }, { "url": "https://www.omim.org/entry/615493", "resource": "MIM", "description": "Mental retardation, autosomal recessive 37", "name": "Mental retardation, autosomal recessive 37", "id": "MIM:615493" }, { "url": "https://www.omim.org/entry/615516", "resource": "MIM", "description": "Mental retardation, autosomal recessive 38", "name": "Mental retardation, autosomal recessive 38", "id": "MIM:615516" }, { "url": "https://www.omim.org/entry/614020", "resource": "MIM", "description": "Mental retardation, autosomal recessive 14", "name": "Mental retardation, autosomal recessive 14", "id": "MIM:614020" }, { "url": "https://www.omim.org/entry/615599", "resource": "MIM", "description": "Mental retardation, autosomal recessive 40", "name": "Mental retardation, autosomal recessive 40", "id": "MIM:615599" }, { "url": "https://www.omim.org/entry/615802", "resource": "MIM", "description": "Mental retardation, autosomal recessive 42", "name": "Mental retardation, autosomal recessive 42", "id": "MIM:615802" }, { "url": "https://www.omim.org/entry/608443", "resource": "MIM", "description": "Mental retardation, autosomal recessive 3", "name": "Mental retardation, autosomal recessive 3", "id": "MIM:608443" }, { "url": "https://www.omim.org/entry/615637", "resource": "MIM", "description": "Mental retardation, autosomal recessive 41", "name": "Mental retardation, autosomal recessive 41", "id": "MIM:615637" }, { "url": "https://www.omim.org/entry/615942", "resource": "MIM", "description": "Mental retardation, autosomal recessive 44", "name": "Mental retardation, autosomal recessive 44", "id": "MIM:615942" }, { "url": "https://www.omim.org/entry/607417", "resource": "MIM", "description": "Mental retardation, autosomal recessive 2A", "name": "Mental retardation, autosomal recessive 2A", "id": "MIM:607417" }, { "url": "https://www.omim.org/entry/614340", "resource": "MIM", "description": "Mental retardation, autosomal recessive 27", "name": "Mental retardation, autosomal recessive 27", "id": "MIM:614340" }, { "url": "https://www.omim.org/entry/611091", "resource": "MIM", "description": "Mental retardation, autosomal recessive 5", "name": "Mental retardation, autosomal recessive 5", "id": "MIM:611091" }, { "url": "https://www.omim.org/entry/611090", "resource": "MIM", "description": "Mental retardation, autosomal recessive 12", "name": "Mental retardation, autosomal recessive 12", "id": "MIM:611090" }, { "url": "https://www.omim.org/entry/611093", "resource": "MIM", "description": "Mental retardation, autosomal recessive 7", "name": "Mental retardation, autosomal recessive 7", "id": "MIM:611093" }, { "url": "https://www.omim.org/entry/615541", "resource": "MIM", "description": "Mental retardation, autosomal recessive 39", "name": "Mental retardation, autosomal recessive 39", "id": "MIM:615541" }, { "url": "https://www.omim.org/entry/615817", "resource": "MIM", "description": "Mental retardation, autosomal recessive 43", "name": "Mental retardation, autosomal recessive 43", "id": "MIM:615817" }, { "url": "https://www.omim.org/entry/614499", "resource": "MIM", "description": "Mental retardation, autosomal recessive 34, with variant lissencephaly", "name": "Mental retardation, autosomal recessive 34, with variant lissencephaly", "id": "MIM:614499" }, { "url": "https://www.omim.org/entry/614249", "resource": "MIM", "description": "Mental retardation, autosomal recessive 18", "name": "Mental retardation, autosomal recessive 18", "id": "MIM:614249" }, { "url": "https://www.omim.org/entry/611092", "resource": "MIM", "description": "Mental retardation, autosomal recessive 6", "name": "Mental retardation, autosomal recessive 6", "id": "MIM:611092" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:0060308", "resource": "Disease Ontology", "description": "A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern.", "name": "autosomal recessive non-syndromic intellectual disability", "id": "DOID:0060308" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0060308#disease-associations", "id": "0060308", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 28289.0, "chemical_mass": 28289.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2AA28", "name": "Mettl23", "locus": { "end_pos": 116854263, "strand": "+", "start_pos": 116843278, "chromosome": "11", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000090266", "id": "ENSMUSG00000090266", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2AA28#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "2.1.1.-" }, { "url": "https://www.uniprot.org/uniprot/A2AA28#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Methyltransferase-like protein 23" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AA28", "type": "synonym", "resource": "RefSeq", "name": "methyltransferase-like protein 23" } ] }