Term: | Absent thumbnail |
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Accession: | HP:0012554
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browse the term
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Definition: | Absence of thumb nail. |
Synonyms: | xref: | UMLS:C4022849 |
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ARX |
aristaless related homeobox |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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IAGP |
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HPO |
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OMIM:124480 ORPHA:79499 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
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CASK |
calcium/calmodulin dependent serine protein kinase |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
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CDKL5 |
cyclin dependent kinase like 5 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629
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DMXL2 |
Dmx like 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
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GNAO1 |
G protein subunit alpha o1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444
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GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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GRM7 |
glutamate metabotropic receptor 7 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
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KCNA1 |
potassium voltage-gated channel subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
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KCNH1 |
potassium voltage-gated channel subfamily H member 1 |
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IAGP |
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HPO |
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OMIM:611816 |
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
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NEUROD2 |
neuronal differentiation 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777
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PIGP |
phosphatidylinositol glycan anchor biosynthesis class P |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
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PIGQ |
phosphatidylinositol glycan anchor biosynthesis class Q |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109
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PNKP |
polynucleotide kinase 3'-phosphatase |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
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SCN1B |
sodium voltage-gated channel beta subunit 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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SIK1 |
salt inducible kinase 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
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SLC25A22 |
solute carrier family 25 member 22 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
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SLC32A1 |
solute carrier family 32 member 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372
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TRIM8 |
tripartite motif containing 8 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318
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