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: nonsyndromic congenital nail disorder
Accession: DOID:0080683
browse the term
Definition: A nail disease that is characterized by underdevelopment of nails. (DO)
Synonyms: xref: MIM:PS161050
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Slc25a16
solute carrier family 25 member 16
ISO
ClinVar Annotator: match by term: Nail disorder, nonsyndromic congenital
ClinVar
PMID:28504827
NCBI chr20:25,659,847...25,717,080
Ensembl chr20:25,662,055...25,716,319
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Fzd6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 1
OMIM ClinVar
PMID:21665003 PMID:22211385 PMID:23374899 PMID:25741868 PMID:26036949
NCBI chr 7:71,939,916...71,971,685
Ensembl chr 7:70,055,068...70,086,776
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Plcd1
phospholipase C, delta 1
ISO
ClinVar Annotator: match by term: LEUKONYCHIA TOTALIS AND/OR PARTIALIS | ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 3 | ClinVar Annotator: match by term: PLCD1-related condition
OMIM ClinVar
PMID:21665001 PMID:25741868 PMID:28492532
NCBI chr 8:127,672,955...127,695,939
Ensembl chr 8:118,795,201...118,818,186
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Hyponychia congenita
ClinVar
PMID:8755915 PMID:9881948 PMID:10408773 PMID:11781296 PMID:12485454 PMID:12787275 PMID:15888141 PMID:16965329 PMID:16971478 PMID:19665875 PMID:19681861 PMID:20598510 PMID:22266148 PMID:24033266 PMID:25201089 PMID:25741868 PMID:26076072 PMID:26148662 PMID:28492532 PMID:31670143 PMID:32383240 PMID:35979658 More...
NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252
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Krt17
keratin 17
ISO
ClinVar Annotator: match by term: Anonychia
ClinVar
PMID:25741868
NCBI chr10:85,679,068...85,683,792
Ensembl chr10:85,178,675...85,183,392
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Rspo4
R-spondin 4
ISO
ClinVar Annotator: match by term: Anonychia | ClinVar Annotator: match by term: RSPO4-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4702713 PMID:17041604 PMID:17186469 PMID:17914448 PMID:18070203 PMID:25741868 More...
NCBI chr 3:140,357,256...140,391,780
Ensembl chr 3:140,357,424...140,388,254
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Sox9
SRY-box transcription factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19639023
NCBI chr10:98,305,744...98,311,250
Ensembl chr10:97,806,485...97,811,994
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Col7a1
collagen type VII alpha 1 chain
ISO
ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 8 | ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7577595 PMID:7695699 PMID:7833933 PMID:8088783 PMID:8218237 PMID:8644730 PMID:8755915 PMID:9242516 PMID:9326325 PMID:9536098 PMID:9666834 PMID:9804332 PMID:9856844 PMID:9881948 PMID:10383749 PMID:10408773 PMID:10469344 PMID:10504458 PMID:10836608 PMID:11781296 PMID:11843659 PMID:12207583 PMID:12485454 PMID:12735646 PMID:12787275 PMID:12813757 PMID:15816848 PMID:15888141 PMID:16199547 PMID:16271705 PMID:16965329 PMID:16971478 PMID:17425959 PMID:17434045 PMID:17576681 PMID:18429782 PMID:18440202 PMID:18951764 PMID:19344236 PMID:19665875 PMID:19681861 PMID:20357813 PMID:20598510 PMID:20920254 PMID:21269315 PMID:21448560 PMID:21471992 PMID:22058051 PMID:22266148 PMID:23237810 PMID:23397949 PMID:23947675 PMID:24032424 PMID:24033266 PMID:24210835 PMID:24599399 PMID:24947307 PMID:25201089 PMID:25525159 PMID:25741868 PMID:26076072 PMID:26102279 PMID:26148662 PMID:26446410 PMID:26467025 PMID:26763448 PMID:27153395 PMID:27899325 PMID:28492532 PMID:28830826 PMID:29473190 PMID:29963685 PMID:30280950 PMID:31001817 PMID:31670143 PMID:31709745 PMID:31930626 PMID:32383240 PMID:32860008 PMID:33587123 PMID:34435747 PMID:35979658 PMID:36287101 More...
NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252
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