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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001799HP:0001799Short nail0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0001799HP:0001799Short nail0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0001799HP:0001799Short nail0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0001799HP:0001799Short nail0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0001799HP:0001799Short nail0FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040281 - Very frequent233
HP:0001799HP:0001799Short nail0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0001799HP:0001799Short nail0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0001799HP:0001799Short nail0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0001799HP:0001799Short nail0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3.11
HP:0001799HP:0001799Short nail0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040283 - Occasional645
HP:0001799HP:0001799Short nail0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0001799HP:0001799Short nail0NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type.53
HP:0001799HP:0001799Short nail0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0001799HP:0001799Short nail0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0001799HP:0001799Short nail0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040283 - Occasional83
HP:0001799HP:0001799Short nail0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83


Genes (14) :ATP6V0A2 B3GALT6 DPYD FLNB GPC3 GPC4 IFT122 IFT43 LMNA NOTCH2 NPR2 SOX9 WNT10A ZMPSTE24

Diseases (14) :OMIM:278250 OMIM:271640 ORPHA:1675 OMIM:150250 ORPHA:503 OMIM:312870 OMIM:218330 OMIM:614099 ORPHA:1662 OMIM:102500 OMIM:602875 OMIM:114290 OMIM:257980 OMIM:275210
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.