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: Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease
Accession: DOID:9006461
browse the term
Synonyms: broad_synonym: IMNEPD
xref: MIM:PS616263
G
Ptrh2
peptidyl-tRNA hydrolase 2
ISO
ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
ClinVar
PMID:25558065 PMID:25741868 PMID:27129381 PMID:28328138
NCBI chr10:72,002,450...72,012,606
Ensembl chr10:71,504,956...71,515,398
G
S100pbp
S100P binding protein
ISO
ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
ClinVar
PMID:25741868
NCBI chr 5:141,494,352...141,535,752
Ensembl chr 5:141,494,353...141,535,525
G
Yars1
tyrosyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
ClinVar
PMID:25741868
NCBI chr 5:146,820,163...146,848,377
Ensembl chr 5:141,535,759...141,563,833
G
Cltc
clathrin heavy chain
ISO
ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
ClinVar
PMID:25741868
NCBI chr10:72,014,984...72,073,308
Ensembl chr10:71,517,663...71,573,737
G
Ptrh2
peptidyl-tRNA hydrolase 2
ISO
ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | ClinVar Annotator: match by term: PTRH2-related condition
OMIM ClinVar
PMID:25558065 PMID:25741868 PMID:27129381 PMID:28328138 PMID:28492532 PMID:31057140 PMID:33092935 More...
NCBI chr10:72,002,450...72,012,606
Ensembl chr10:71,504,956...71,515,398
G
Yars1
tyrosyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
OMIM ClinVar
PMID:3034524 PMID:14606043 PMID:16429158 PMID:19561293 PMID:25741868 PMID:26138142 PMID:26257172 PMID:26467025 PMID:26975778 PMID:27633801 PMID:28492532 PMID:29232904 PMID:29302074 PMID:30304524 PMID:31130284 PMID:33490854 PMID:34352414 PMID:34536092 More...
NCBI chr 5:146,820,163...146,848,377
Ensembl chr 5:141,535,759...141,563,833
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19142
disease of anatomical entity
18455
endocrine system disease
7039
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease
4
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1
2
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2
1
Path 2
disease
19142
disease of anatomical entity
18455
endocrine system disease
7039
pancreas disease
1255
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease
4
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1
2
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2
1