RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: methylmalonic acidemia and homocysteinemia cblX type
Accession: DOID:0111814
browse the term
Definition: A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. (DO)
Synonyms: exact_synonym: MAXCX; MRX3; X-linked intellectual developmental disorder 3; X-linked mental retardation 3; XLID3; combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX; methylmalonic aciduria with homocystinuria, type cblX
primary_id: OMIM:309541
alt_id: MESH:C563136
xref: ORDO:369962
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CENPT
centromere protein T
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:25741868 PMID:28449119
NCBI chr 6:28,450,568...28,456,620
Ensembl chr 6:28,450,569...28,456,229
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FLNA
filamin A
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:124,889,934...124,915,000
Ensembl chr X:124,890,162...124,914,992
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HCFC1
host cell factor C1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
OMIM ClinVar
PMID:1870093 PMID:9536098 PMID:15689435 PMID:16080119 PMID:17576681 PMID:18414213 PMID:23000143 PMID:23539139 PMID:24011988 PMID:25167861 PMID:25281006 PMID:25740848 PMID:25741868 PMID:26893841 PMID:27403441 PMID:28363510 PMID:28449119 PMID:28492532 PMID:28554332 PMID:33880059 PMID:35013307 More...
NCBI chr X:124,673,125...124,694,846
Ensembl chr X:124,673,128...124,694,152
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IRAK1
interleukin 1 receptor associated kinase 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:124,717,604...124,724,855
Ensembl chr X:124,717,612...124,724,860
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LOC494564
medium-wave-sensitive opsin
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:124,816,014...124,828,225
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MECP2
methyl-CpG binding protein 2
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:124,735,523...124,789,063
Ensembl chr X:124,735,656...124,738,659
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NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:124,658,429...124,662,744
Ensembl chr X:124,658,158...124,662,702
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RENBP
renin binding protein
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:124,662,957...124,670,522
Ensembl chr X:124,662,719...124,672,235
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TEX28
testis expressed 28
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:124,828,222...124,840,093
Ensembl chr X:124,828,225...124,834,315
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THAP11
THAP domain containing 11
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:25741868 PMID:28449119
NCBI chr 6:28,465,458...28,466,387
Ensembl chr 6:28,465,208...28,467,074
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TKTL1
transketolase like 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:124,840,072...124,867,313
Ensembl chr X:124,839,995...124,867,614
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TMEM187
transmembrane protein 187
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
ClinVar
PMID:15689435 PMID:16080119 PMID:28492532
NCBI chr X:124,695,050...124,699,349
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