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: Preaxial Polydactyly II
Accession: DOID:9007798
browse the term
Synonyms: exact_synonym: POLYDACTYLY OF TRIPHALANGEAL THUMB; PPD2; TPT; TPT-PS syndrome; triphalangeal thumb with polydactyly
broad_synonym: triphalangeal thumb
primary_id: OMIM:174500
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Lmbr1
limb development membrane protein 1
ISO
ClinVar Annotator: match by term: POLYDACTYLY OF TRIPHALANGEAL THUMB | ClinVar Annotator: match by term: Polydactyly, preaxial II
ClinVar
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:25741868 PMID:28492532 PMID:29651423 PMID:32169219 PMID:38233525 More...
NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Polydactyly, preaxial II
ClinVar
PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:20569257 PMID:18463159
RGD:12801447 , RGD:12801448
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Lmbr1
limb development membrane protein 1
ISO
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME | ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
OMIM ClinVar
PMID:8012392 PMID:10937618 PMID:12837695 PMID:17152067 PMID:17300748 PMID:18178630 PMID:18417549 PMID:18463159 PMID:19519794 PMID:20569257 PMID:22340503 PMID:24777739 PMID:25741868 PMID:28492532 PMID:29651423 PMID:32169219 PMID:38233525 More...
NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: TRIPHALANGEAL THUMB-POLYDACTYLY SYNDROME
ClinVar
PMID:12204003 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
G
Rnf32
ring finger protein 32
ISO
ClinVar Annotator: match by term: Triphalangeal thumb-polysyndactyly syndrome
ClinVar
PMID:18178630
NCBI chr 4:6,144,749...6,209,320
Ensembl chr 4:6,149,841...6,209,257
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Shh
sonic hedgehog signaling molecule
ISO
DNA:duplication:enhancer
RGD
PMID:18417549
RGD:12801418
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all