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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Absent palmar crease
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Accession:HP:0010489 term browser browse the term
Definition:The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).
Synonyms:exact_synonym: Absence of the palmar creases;   Absent palm lines;   Aplasia of the palmar creases
 xref: UMLS:C4021262


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Absent palmar crease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DOK7 docking protein 7 IAGP HPO ORPHA:994 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G KIF21A kinesin family member 21A IAGP HPO ORPHA:994 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:994 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO ORPHA:2053 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO ORPHA:994 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G NALCN sodium leak channel, non-selective IAGP HPO ORPHA:2053 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508 		JBrowse link
G NUP88 nucleoporin 88 IAGP HPO ORPHA:994 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO ORPHA:1154 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:994 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO OMIM:263650 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:994 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO ORPHA:157965 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:994 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the integument 2730
        Abnormality of the skin 2258
          Abnormal skin morphology 2053
            Regional abnormality of skin 538
              Abnormal dermatoglyphics 310
                Abnormal palmar dermatoglyphics 258
                  Abnormality of the palmar creases 253
                    Aplasia/Hypoplasia of the palmar creases 17
                      Absent palmar crease 13
paths to the root