Human Phenotype Ontology 
Grandparent Node:
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Nail dysplasia (HP:0002164)help
Parent Node:
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Hyperconvex nail (HP:0001795)help
..Starting node
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Hyperconvex fingernails (HP:0001812)help
Term ID: 1812
Name: Hyperconvex fingernails
Synonym: Tubular fingernails
Definition: When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.
Comments:
Reference: HP:0001812
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHyperconvex thumb nails (HP:0008407) help
..expandHyperconvex toenail (HP:0030055) 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:0001812HP:0001812Hyperconvex fingernails0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome.1
HP:0001812HP:0001812Hyperconvex fingernails0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0001812HP:0001812Hyperconvex fingernails0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome.
HP:0001812HP:0001812Hyperconvex fingernails0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0001812HP:0001812Hyperconvex fingernails0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0001812HP:0001812Hyperconvex fingernails0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome.118
HP:0001812HP:0001812Hyperconvex fingernails0PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040281 - Very frequent759
HP:0001812HP:0001812Hyperconvex fingernails0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040283 - Occasional6
HP:0001812HP:0001812Hyperconvex fingernails0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0001812HP:0001812Hyperconvex fingernails0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65


Genes (9) :CPLX1 CTBP1 FGFRL1 LETM1 MBTPS2 NSD2 PLEC PTDSS1 RPS6KA3

Diseases (6) :OMIM:194190 ORPHA:2273 ORPHA:257 ORPHA:2658 OMIM:303600 ORPHA:192
 

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