Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the nail (HP:0001597)help
Parent Node:
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Aplasia/Hypoplasia of the nails (HP:0008386)help
..Starting node
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Short nail (HP:0001799)help
Term ID: 1799
Name: Short nail
Synonym: Short nail; Short nails
Definition: Decreased length of nail.
Comments:
Reference: HP:0001799
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnonychia (HP:0001798) help
..expandAplastic/hypoplastic toenail (HP:0010624) help
..expandSmall nail (HP:0001792) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001799HP:0001799Short nail0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM145818481611716
HP:0001799HP:0001799Short nail0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM141718481611716
HP:0001799HP:0001799Short nail0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0001799HP:0001799Short nail0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0001799HP:0001799Short nail0FLNB CL E G H2317503ORPHA19883755603381
HP:0001799HP:0001799Short nail0FLNB CL E G H2317503ORPHA17863755603381
HP:0001799HP:0001799Short nail0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM19883755603381
HP:0001799HP:0001799Short nail0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM17863755603381
HP:0001799HP:0001799Short nail0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM139113556606045
HP:0001799HP:0001799Short nail0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM131713556606045
HP:0001799HP:0001799Short nail0IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM116229669614068
HP:0001799HP:0001799Short nail0IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM112929669614068
HP:0001799HP:0001799Short nail0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM114866636150330
HP:0001799HP:0001799Short nail0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM113476636150330
HP:0001799HP:0001799Short nail0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0001799HP:0001799Short nail0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0001799HP:0001799Short nail0NPR2 CL E G H4882602875Acromesomelic dysplasia Maroteaux type602875C1864356OMIM13447944108961
HP:0001799HP:0001799Short nail0NPR2 CL E G H4882602875Acromesomelic dysplasia Maroteaux type602875C1864356OMIM12857944108961
HP:0001799HP:0001799Short nail0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM116712877606480
HP:0001799HP:0001799Short nail0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM114912877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001799HP:0001799Short nail0LMNA CL E G H40001662ORPHA014866636150330
HP:0001799HP:0001799Short nail0LMNA CL E G H40001662ORPHA013476636150330
HP:0001799HP:0001799Short nail0ZMPSTE24 CL E G H102691662ORPHA016712877606480
HP:0001799HP:0001799Short nail0ZMPSTE24 CL E G H102691662ORPHA014912877606480


Genes (9) :ATP6V0A2 B3GALT6 FLNB IFT122 IFT43 LMNA NOTCH2 NPR2 ZMPSTE24

Diseases (10) :278250 271640 503 150250 218330 614099 1662 275210 102500 602875
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.