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: Allanson Pantzar McLeod Syndrome
Accession: DOID:9006774
browse the term
Synonyms: exact_synonym: Primitive renal tubule syndrome; Renal tubular dysgenesis; Renotubular dysgenesis
primary_id: MESH:C537048 ; RDO:0002807
For additional species annotation, visit the
Alliance of Genome Resources .
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16116425
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
G
Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16116425 PMID:17036344
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
Agtr1a
angiotensin II receptor, type 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16116425
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
G
Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16116425
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
PMID:20454656
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
G
Agt
angiotensinogen
ISO
OMIM
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
Agtr1a
angiotensin II receptor, type 1a
ISO
OMIM
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
G
Ren
renin
ISO
DNA:polymorphisms:cds, intron:multiple (human)
OMIM
PMID:16116425
RGD:1598878
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all