Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin adnexa morphology (HP:0011138)help
Parent Node:
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Abnormality of the nail (HP:0001597)help
..Starting node
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Fragile nails (HP:0001808)help
Term ID: 1808
Name: Fragile nails
Synonym: Brittle nails
Definition: Nails that easily break.
Comments:
Reference: HP:0001808
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal fingernail morphology (HP:0001231) help
..expandAbnormal nail growth (HP:0030807) help
..expandAbnormal toenail morphology (HP:0008388) help
..expandAbnormality of nail color (HP:0100643) help
..expandAbnormality of the periungual region (HP:0100803) help
..expandAbnormality of the subungual region (HP:0009723) help
..expandAbsent lunula (HP:0030805) help
..expandAplasia/Hypoplasia of the nails (HP:0008386) help
..expandBeaked nails (HP:0030817) help
..expandChronic monilial nail infection (HP:0008396) help
..expandIngrown nail (HP:0012710) help
..expandNail bed hemorrhage (HP:0030254) help
..expandNail bed telangiectasia (HP:0001232) help
..expandNail dysplasia (HP:0002164) help
..expandNail dystrophy (HP:0008404) help
..expandNeoplasm of the nail (HP:0100826) help
..expandOnychogryposis (HP:0001805) help
..expandOnycholysis (HP:0001806) help
..expandPterygium of nails (HP:0002165) help
..expandPyramidal skinfold extending from the base to the top of the nails (HP:0009758) help
..expandRagged cuticle (HP:0030808) help
..expandRecurrent loss of toenails and fingernails (HP:0008390) help
..expandSki jump nail (HP:0030819) help
..expandThin nail (HP:0001816) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001808HP:0001808Fragile nails0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM145818481611716
HP:0001808HP:0001808Fragile nails0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM141718481611716
HP:0001808HP:0001808Fragile nails0COL17A1 CL E G H1308226650Adult junctional epidermolysis bullosa226650C0268374OMIM14062194113811
HP:0001808HP:0001808Fragile nails0COL17A1 CL E G H1308226650Adult junctional epidermolysis bullosa226650C0268374OMIM13922194113811
HP:0001808HP:0001808Fragile nails0DLX3 CL E G H17473352ORPHA11052916600525
HP:0001808HP:0001808Fragile nails0DLX3 CL E G H17473352ORPHA1982916600525
HP:0001808HP:0001808Fragile nails0DLX3 CL E G H1747190320Tricho-dento-osseous syndrome190320C0265333OMIM11052916600525
HP:0001808HP:0001808Fragile nails0DLX3 CL E G H1747190320Tricho-dento-osseous syndrome190320C0265333OMIM1982916600525
HP:0001808HP:0001808Fragile nails0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12103226300035
HP:0001808HP:0001808Fragile nails0EFNB1 CL E G H1947304110Craniofrontonasal dysplasia304110C0220767OMIM12013226300035
HP:0001808HP:0001808Fragile nails0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001808HP:0001808Fragile nails0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001808HP:0001808Fragile nails0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11914274121014
HP:0001808HP:0001808Fragile nails0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11694274121014
HP:0001808HP:0001808Fragile nails0GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12234288604418
HP:0001808HP:0001808Fragile nails0GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12144288604418
HP:0001808HP:0001808Fragile nails0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14675173190020
HP:0001808HP:0001808Fragile nails0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14115173190020
HP:0001808HP:0001808Fragile nails0ITGB4 CL E G H3691226650Adult junctional epidermolysis bullosa226650C0268374OMIM14076158147557
HP:0001808HP:0001808Fragile nails0ITGB4 CL E G H3691226650Adult junctional epidermolysis bullosa226650C0268374OMIM13896158147557
HP:0001808HP:0001808Fragile nails0KRT14 CL E G H3861161000Naegeli-Franceschetti-Jadassohn syndrome161000C0343111OMIM11556416148066
HP:0001808HP:0001808Fragile nails0KRT14 CL E G H3861161000Naegeli-Franceschetti-Jadassohn syndrome161000C0343111OMIM11486416148066
HP:0001808HP:0001808Fragile nails0LAMA3 CL E G H3909226650Adult junctional epidermolysis bullosa226650C0268374OMIM18556483600805
HP:0001808HP:0001808Fragile nails0LAMA3 CL E G H3909226650Adult junctional epidermolysis bullosa226650C0268374OMIM18156483600805
HP:0001808HP:0001808Fragile nails0LAMB3 CL E G H3914226650Adult junctional epidermolysis bullosa226650C0268374OMIM16646490150310
HP:0001808HP:0001808Fragile nails0LAMB3 CL E G H3914226650Adult junctional epidermolysis bullosa226650C0268374OMIM16226490150310
HP:0001808HP:0001808Fragile nails0LAMC2 CL E G H3918226650Adult junctional epidermolysis bullosa226650C0268374OMIM15796493150292
HP:0001808HP:0001808Fragile nails0LAMC2 CL E G H3918226650Adult junctional epidermolysis bullosa226650C0268374OMIM15486493150292
HP:0001808HP:0001808Fragile nails0LMNA CL E G H400079474ORPHA114866636150330
HP:0001808HP:0001808Fragile nails0LMNA CL E G H400079474ORPHA113476636150330
HP:0001808HP:0001808Fragile nails0MSX1 CL E G H44872228Facio thoraco genital syndromeORPHA11587391142983
HP:0001808HP:0001808Fragile nails0MSX1 CL E G H44872228Facio thoraco genital syndromeORPHA11507391142983
HP:0001808HP:0001808Fragile nails0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM1839407605435
HP:0001808HP:0001808Fragile nails0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM1829407605435
HP:0001808HP:0001808Fragile nails0SLURP1 CL E G H57152248300Acroerythrokeratoderma248300C0025221OMIM18118746606119
HP:0001808HP:0001808Fragile nails0SLURP1 CL E G H57152248300Acroerythrokeratoderma248300C0025221OMIM18018746606119
HP:0001808HP:0001808Fragile nails0TRPS1 CL E G H722777258ORPHA133612340604386
HP:0001808HP:0001808Fragile nails0TRPS1 CL E G H722777258ORPHA127012340604386
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001808HP:0001808Fragile nails0DSP CL E G H1832615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis615821C4014393OMIM029983052125647
HP:0001808HP:0001808Fragile nails0DSP CL E G H1832615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis615821C4014393OMIM026523052125647
HP:0001808HP:0001808Fragile nails0FTL CL E G H2512254704ORPHA01383999134790
HP:0001808HP:0001808Fragile nails0FTL CL E G H2512254704ORPHA01093999134790
HP:0001808HP:0001808Fragile nails0SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM09611107601736
HP:0001808HP:0001808Fragile nails0SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM04211107601736


Genes (21) :ATP6V0A2 COL17A1 DLX3 DSP EFNB1 ERCC2 FTL GJA1 GJB6 HRAS ITGB4 KRT14 LAMA3 LAMB3 LAMC2 LMNA MSX1 PRKD1 SLURP1 SMARCD2 TRPS1

Diseases (18) :278250 226650 3352 190320 615821 304110 601675 254704 164200 189 218040 161000 79474 2228 617364 248300 617475 77258
 

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