Term: | Short chin |
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Accession: | HP:0000331
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browse the term
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Definition: | Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. |
Comment: | The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension). |
Synonyms: | exact_synonym: | Decreased height of chin; Short lower third of face; Vertical deficiency of chin; Vertical hypoplasia of chin |
| related_synonym: | Small chin |
| xref: | SNOMEDCT_US:699439001; UMLS:C1839323; UMLS:C3697248 |
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ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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IAGP |
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HPO |
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OMIM:617602 |
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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ADNP |
activity dependent neuroprotector homeobox |
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IAGP |
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HPO |
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OMIM:615873 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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ALDH1A2 |
aldehyde dehydrogenase 1 family member A2 |
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IAGP |
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HPO |
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OMIM:620025 |
NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866
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ALG13 |
ALG13 UDP-N-acetylglucosaminyltransferase subunit |
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IAGP |
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HPO |
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ORPHA:324422 |
NCBI chr X:111,681,170...111,760,649
Ensembl chr X:111,665,811...111,760,649
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AP1S2 |
adaptor related protein complex 1 subunit sigma 2 |
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IAGP |
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HPO |
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ORPHA:85329 |
NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931
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ARID1B |
AT-rich interaction domain 1B |
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IAGP |
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HPO |
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OMIM:135900 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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ASXL3 |
ASXL transcriptional regulator 3 |
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IAGP |
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HPO |
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OMIM:615485 |
NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
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BMPR1A |
bone morphogenetic protein receptor type 1A |
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IAGP |
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HPO |
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ORPHA:79076 |
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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CAMK2B |
calcium/calmodulin dependent protein kinase II beta |
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IAGP |
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HPO |
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OMIM:617799 |
NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577
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CDK10 |
cyclin dependent kinase 10 |
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IAGP |
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HPO |
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OMIM:617694 |
NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354
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COA6 |
cytochrome c oxidase assembly factor 6 |
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IAGP |
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HPO |
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OMIM:616501 |
NCBI chr 1:234,373,456...234,385,080
Ensembl chr 1:234,373,456...234,385,080
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COL11A2 |
collagen type XI alpha 2 chain |
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IAGP |
ClinVar Annotator: match by term: Short chin |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
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COL9A2 |
collagen type IX alpha 2 chain |
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IAGP |
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HPO |
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OMIM:614284 |
NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813
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COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
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OMIM:300887 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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CYP26C1 |
cytochrome P450 family 26 subfamily C member 1 |
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IAGP |
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HPO |
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ORPHA:398189 |
NCBI chr10:93,060,798...93,069,540
Ensembl chr10:93,060,798...93,069,540
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DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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OMIM:618175 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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DST |
dystonin |
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IAGP |
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HPO |
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OMIM:614653 |
NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
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EBF3 |
EBF transcription factor 3 |
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IAGP |
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HPO |
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OMIM:617330 |
NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053
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EDA |
ectodysplasin A |
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IAGP |
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HPO |
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OMIM:305100 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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IAGP |
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HPO |
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ORPHA:90322 |
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
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ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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ORPHA:90321 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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ORPHA:90321 ORPHA:90322 ORPHA:90324 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
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HPO |
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ORPHA:90321 ORPHA:90322 ORPHA:90324 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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FBXO31 |
F-box protein 31 |
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IAGP |
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HPO |
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OMIM:615979 |
NCBI chr16:87,326,987...87,392,121
Ensembl chr16:87,326,987...87,392,142
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FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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ORPHA:3472 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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FLNA |
filamin A |
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IAGP |
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HPO |
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OMIM:305620 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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GRB10 |
growth factor receptor bound protein 10 |
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IAGP |
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HPO |
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ORPHA:96182 |
NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462
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H19 |
H19 imprinted maternally expressed transcript |
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IAGP |
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HPO |
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ORPHA:231140 |
NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552
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IGF2 |
insulin like growth factor 2 |
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IAGP |
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HPO |
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ORPHA:231140 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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ITCH |
itchy E3 ubiquitin protein ligase |
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IAGP |
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HPO |
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OMIM:613385 ORPHA:228426 |
NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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OMIM:212112 ORPHA:740 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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MAN1B1 |
mannosidase alpha class 1B member 1 |
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IAGP |
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HPO |
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ORPHA:397941 |
NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189
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MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
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HPO |
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OMIM:617137 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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MBD5 |
methyl-CpG binding domain protein 5 |
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IAGP |
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HPO |
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OMIM:156200 |
NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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ORPHA:93932 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MEF2C |
myocyte enhancer factor 2C |
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IAGP |
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HPO |
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OMIM:613443 |
NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257
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MTOR |
mechanistic target of rapamycin kinase |
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IAGP |
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HPO |
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OMIM:616638 ORPHA:457485 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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MYOD1 |
myogenic differentiation 1 |
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IAGP |
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HPO |
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OMIM:618975 |
NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136
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NDUFS4 |
NADH:ubiquinone oxidoreductase subunit S4 |
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IAGP |
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HPO |
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OMIM:252010 |
NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338
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NFIA |
nuclear factor I A |
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IAGP |
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HPO |
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OMIM:613735 |
NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788
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NRCAM |
neuronal cell adhesion molecule |
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IAGP |
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HPO |
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OMIM:619833 |
NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717
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NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
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HPO |
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OMIM:619695 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
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IAGP |
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HPO |
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OMIM:611091 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
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PAPPA2 |
pappalysin 2 |
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IAGP |
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HPO |
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OMIM:619489 |
NCBI chr 1:176,463,175...176,845,601
Ensembl chr 1:176,463,171...176,845,601
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PARS2 |
prolyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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OMIM:618437 |
NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523
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PIGS |
phosphatidylinositol glycan anchor biosynthesis class S |
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IAGP |
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HPO |
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OMIM:618143 |
NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794
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PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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OMIM:269880 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
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IAGP |
ClinVar Annotator: match by term: Short chin |
ClinVar |
PMID:25741868 |
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NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
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PPP1R21 |
protein phosphatase 1 regulatory subunit 21 |
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IAGP |
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HPO |
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OMIM:619383 |
NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391
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PRKDC |
protein kinase, DNA-activated, catalytic subunit |
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IAGP |
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HPO |
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OMIM:615966 |
NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:79076 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTF1A |
pancreas associated transcription factor 1a |
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IAGP |
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HPO |
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OMIM:609069 ORPHA:65288 |
NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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OMIM:266280 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RNF13 |
ring finger protein 13 |
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IAGP |
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HPO |
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OMIM:618379 ORPHA:544503 |
NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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OMIM:210710 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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SCUBE3 |
signal peptide, CUB domain and EGF like domain containing 3 |
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IAGP |
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HPO |
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OMIM:619184 |
NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079
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SET |
SET nuclear proto-oncogene |
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IAGP |
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HPO |
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OMIM:618106 |
NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
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SHANK3 |
SH3 and multiple ankyrin repeat domains 3 |
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IAGP |
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HPO |
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OMIM:606232 |
NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212
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SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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OMIM:222600 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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SLF2 |
SMC5-SMC6 complex localization factor 2 |
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IAGP |
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HPO |
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OMIM:620184 |
NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134
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SOX11 |
SRY-box transcription factor 11 |
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IAGP |
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HPO |
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OMIM:615866 |
NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
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TAF4 |
TATA-box binding protein associated factor 4 |
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IAGP |
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HPO |
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OMIM:620450 |
NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881
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TRIO |
trio Rho guanine nucleotide exchange factor |
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IAGP |
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HPO |
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OMIM:617061 OMIM:618825 |
NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
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VAC14 |
VAC14 component of PIKFYVE complex |
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IAGP |
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HPO |
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ORPHA:3472 |
NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
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XRCC4 |
X-ray repair cross complementing 4 |
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IAGP |
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HPO |
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OMIM:616541 |
NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787
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ZBTB24 |
zinc finger and BTB domain containing 24 |
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IAGP |
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HPO |
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OMIM:614069 |
NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239
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ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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ORPHA:740 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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ZNF292 |
zinc finger protein 292 |
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IAGP |
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HPO |
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OMIM:619188 |
NCBI chr 6:87,155,565...87,265,943
Ensembl chr 6:87,151,803...87,265,943
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Term paths to the root
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