Human Phenotype Ontology 
Grandparent Node:
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Aplasia/Hypoplasia of the nails (HP:0008386)help
Parent Node:
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Abnormal fingernail morphology (HP:0001231)help
Parent Node:
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Small nail (HP:0001792)help
..Starting node
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Hypoplastic fingernail (HP:0001804)help
Term ID: 1804
Name: Hypoplastic fingernail
Synonym: Small fingernail; Underdeveloped fingernail
Definition: Underdevelopment of a fingernail.
Comments:
Reference: HP:0001804
Genes and Diseases:
 
       Child Nodes:
........expandHypoplastic fifth fingernail (HP:0008398) help
........expandHypoplastic thumbnail (HP:0012553) help

 Sister Nodes: 
..expandHypoplastic toenails (HP:0001800) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001804HP:0001804Hypoplastic fingernail0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA1118854606939
HP:0001804HP:0001804Hypoplastic fingernail0ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA1115854606939
HP:0001804HP:0001804Hypoplastic fingernail0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM120624154608699
HP:0001804HP:0001804Hypoplastic fingernail0BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM117424154608699
HP:0001804HP:0001804Hypoplastic fingernail0COL11A1 CL E G H13012021ORPHA113392186120280
HP:0001804HP:0001804Hypoplastic fingernail0COL11A1 CL E G H13012021ORPHA110282186120280
HP:0001804HP:0001804Hypoplastic fingernail0COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM113392186120280
HP:0001804HP:0001804Hypoplastic fingernail0COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM110282186120280
HP:0001804HP:0001804Hypoplastic fingernail0COL11A2 CL E G H13022021ORPHA19742187120290
HP:0001804HP:0001804Hypoplastic fingernail0COL11A2 CL E G H13022021ORPHA17052187120290
HP:0001804HP:0001804Hypoplastic fingernail0GJB2 CL E G H2706477ORPHA14824284121011
HP:0001804HP:0001804Hypoplastic fingernail0GJB2 CL E G H2706477ORPHA14604284121011
HP:0001804HP:0001804Hypoplastic fingernail0GJB6 CL E G H10804477ORPHA12234288604418
HP:0001804HP:0001804Hypoplastic fingernail0GJB6 CL E G H10804477ORPHA12144288604418
HP:0001804HP:0001804Hypoplastic fingernail0HYMAI CL E G H5706196191ORPHA1165326606546
HP:0001804HP:0001804Hypoplastic fingernail0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA13375961300248
HP:0001804HP:0001804Hypoplastic fingernail0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA13265961300248
HP:0001804HP:0001804Hypoplastic fingernail0KCNH1 CL E G H37563473MeningoencephaloceleORPHA12776250603305
HP:0001804HP:0001804Hypoplastic fingernail0KCNH1 CL E G H37563473MeningoencephaloceleORPHA11776250603305
HP:0001804HP:0001804Hypoplastic fingernail0LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM12566518600024
HP:0001804HP:0001804Hypoplastic fingernail0LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM12256518600024
HP:0001804HP:0001804Hypoplastic fingernail0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA124215455300294
HP:0001804HP:0001804Hypoplastic fingernail0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA123115455300294
HP:0001804HP:0001804Hypoplastic fingernail0MSX1 CL E G H44872228Facio thoraco genital syndromeORPHA11587391142983
HP:0001804HP:0001804Hypoplastic fingernail0MSX1 CL E G H44872228Facio thoraco genital syndromeORPHA11507391142983
HP:0001804HP:0001804Hypoplastic fingernail0PIGN CL E G H235562059ORPHA17518967606097
HP:0001804HP:0001804Hypoplastic fingernail0PIGN CL E G H235562059ORPHA16518967606097
HP:0001804HP:0001804Hypoplastic fingernail0PLAGL1 CL E G H532596191ORPHA1309046603044
HP:0001804HP:0001804Hypoplastic fingernail0PLEC CL E G H5339257ORPHA138429069601282
HP:0001804HP:0001804Hypoplastic fingernail0PLEC CL E G H5339257ORPHA133559069601282
HP:0001804HP:0001804Hypoplastic fingernail0ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM142410257602337
HP:0001804HP:0001804Hypoplastic fingernail0ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM135510257602337
HP:0001804HP:0001804Hypoplastic fingernail0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA140410432300075
HP:0001804HP:0001804Hypoplastic fingernail0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA138310432300075
HP:0001804HP:0001804Hypoplastic fingernail0SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0001804HP:0001804Hypoplastic fingernail0SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0001804HP:0001804Hypoplastic fingernail0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0001804HP:0001804Hypoplastic fingernail0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0001804HP:0012553Hypoplastic thumbnail1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA1118854606939
HP:0001804HP:0012553Hypoplastic thumbnail1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA1115854606939
HP:0001804HP:0008398Hypoplastic fifth fingernail1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA1118854606939
HP:0001804HP:0008398Hypoplastic fifth fingernail1ATP6V1B2 CL E G H5263473MeningoencephaloceleORPHA1115854606939
HP:0001804HP:0008398Hypoplastic fifth fingernail1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM120624154608699
HP:0001804HP:0008398Hypoplastic fifth fingernail1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM117424154608699
HP:0001804HP:0012553Hypoplastic thumbnail1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM120624154608699
HP:0001804HP:0012553Hypoplastic thumbnail1BMPER CL E G H168667608022Diaphanospondylodysostosis608022C1842691OMIM117424154608699
HP:0001804HP:0012553Hypoplastic thumbnail1COL11A1 CL E G H13012021ORPHA113392186120280
HP:0001804HP:0012553Hypoplastic thumbnail1COL11A1 CL E G H13012021ORPHA110282186120280
HP:0001804HP:0008398Hypoplastic fifth fingernail1COL11A1 CL E G H13012021ORPHA113392186120280
HP:0001804HP:0008398Hypoplastic fifth fingernail1COL11A1 CL E G H13012021ORPHA110282186120280
HP:0001804HP:0012553Hypoplastic thumbnail1COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM113392186120280
HP:0001804HP:0012553Hypoplastic thumbnail1COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM110282186120280
HP:0001804HP:0008398Hypoplastic fifth fingernail1COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM113392186120280
HP:0001804HP:0008398Hypoplastic fifth fingernail1COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM110282186120280
HP:0001804HP:0008398Hypoplastic fifth fingernail1COL11A2 CL E G H13022021ORPHA19742187120290
HP:0001804HP:0008398Hypoplastic fifth fingernail1COL11A2 CL E G H13022021ORPHA17052187120290
HP:0001804HP:0012553Hypoplastic thumbnail1COL11A2 CL E G H13022021ORPHA19742187120290
HP:0001804HP:0012553Hypoplastic thumbnail1COL11A2 CL E G H13022021ORPHA17052187120290
HP:0001804HP:0012553Hypoplastic thumbnail1GJB2 CL E G H2706477ORPHA14824284121011
HP:0001804HP:0012553Hypoplastic thumbnail1GJB2 CL E G H2706477ORPHA14604284121011
HP:0001804HP:0008398Hypoplastic fifth fingernail1GJB2 CL E G H2706477ORPHA14824284121011
HP:0001804HP:0008398Hypoplastic fifth fingernail1GJB2 CL E G H2706477ORPHA14604284121011
HP:0001804HP:0008398Hypoplastic fifth fingernail1GJB6 CL E G H10804477ORPHA12234288604418
HP:0001804HP:0008398Hypoplastic fifth fingernail1GJB6 CL E G H10804477ORPHA12144288604418
HP:0001804HP:0012553Hypoplastic thumbnail1GJB6 CL E G H10804477ORPHA12234288604418
HP:0001804HP:0012553Hypoplastic thumbnail1GJB6 CL E G H10804477ORPHA12144288604418
HP:0001804HP:0012553Hypoplastic thumbnail1HYMAI CL E G H5706196191ORPHA1165326606546
HP:0001804HP:0008398Hypoplastic fifth fingernail1HYMAI CL E G H5706196191ORPHA1165326606546
HP:0001804HP:0008398Hypoplastic fifth fingernail1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA13375961300248
HP:0001804HP:0008398Hypoplastic fifth fingernail1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA13265961300248
HP:0001804HP:0012553Hypoplastic thumbnail1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA13375961300248
HP:0001804HP:0012553Hypoplastic thumbnail1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA13265961300248
HP:0001804HP:0008398Hypoplastic fifth fingernail1KCNH1 CL E G H37563473MeningoencephaloceleORPHA12776250603305
HP:0001804HP:0008398Hypoplastic fifth fingernail1KCNH1 CL E G H37563473MeningoencephaloceleORPHA11776250603305
HP:0001804HP:0012553Hypoplastic thumbnail1KCNH1 CL E G H37563473MeningoencephaloceleORPHA12776250603305
HP:0001804HP:0012553Hypoplastic thumbnail1KCNH1 CL E G H37563473MeningoencephaloceleORPHA11776250603305
HP:0001804HP:0008398Hypoplastic fifth fingernail1LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM12566518600024
HP:0001804HP:0008398Hypoplastic fifth fingernail1LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM12256518600024
HP:0001804HP:0012553Hypoplastic thumbnail1LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM12566518600024
HP:0001804HP:0012553Hypoplastic thumbnail1LBR CL E G H3930215140Greenberg dysplasia215140C2931048OMIM12256518600024
HP:0001804HP:0012553Hypoplastic thumbnail1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA124215455300294
HP:0001804HP:0012553Hypoplastic thumbnail1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA123115455300294
HP:0001804HP:0008398Hypoplastic fifth fingernail1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA124215455300294
HP:0001804HP:0008398Hypoplastic fifth fingernail1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA123115455300294
HP:0001804HP:0008398Hypoplastic fifth fingernail1MSX1 CL E G H44872228Facio thoraco genital syndromeORPHA11587391142983
HP:0001804HP:0008398Hypoplastic fifth fingernail1MSX1 CL E G H44872228Facio thoraco genital syndromeORPHA11507391142983
HP:0001804HP:0012553Hypoplastic thumbnail1MSX1 CL E G H44872228Facio thoraco genital syndromeORPHA11587391142983
HP:0001804HP:0012553Hypoplastic thumbnail1MSX1 CL E G H44872228Facio thoraco genital syndromeORPHA11507391142983
HP:0001804HP:0012553Hypoplastic thumbnail1PIGN CL E G H235562059ORPHA17518967606097
HP:0001804HP:0012553Hypoplastic thumbnail1PIGN CL E G H235562059ORPHA16518967606097
HP:0001804HP:0008398Hypoplastic fifth fingernail1PIGN CL E G H235562059ORPHA17518967606097
HP:0001804HP:0008398Hypoplastic fifth fingernail1PIGN CL E G H235562059ORPHA16518967606097
HP:0001804HP:0008398Hypoplastic fifth fingernail1PLAGL1 CL E G H532596191ORPHA1309046603044
HP:0001804HP:0012553Hypoplastic thumbnail1PLAGL1 CL E G H532596191ORPHA1309046603044
HP:0001804HP:0012553Hypoplastic thumbnail1PLEC CL E G H5339257ORPHA138429069601282
HP:0001804HP:0012553Hypoplastic thumbnail1PLEC CL E G H5339257ORPHA133559069601282
HP:0001804HP:0008398Hypoplastic fifth fingernail1PLEC CL E G H5339257ORPHA138429069601282
HP:0001804HP:0008398Hypoplastic fifth fingernail1PLEC CL E G H5339257ORPHA133559069601282
HP:0001804HP:0008398Hypoplastic fifth fingernail1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM142410257602337
HP:0001804HP:0008398Hypoplastic fifth fingernail1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM135510257602337
HP:0001804HP:0012553Hypoplastic thumbnail1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM142410257602337
HP:0001804HP:0012553Hypoplastic thumbnail1ROR2 CL E G H4920113000Type B brachydactyly113000C1862112OMIM135510257602337
HP:0001804HP:0012553Hypoplastic thumbnail1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA140410432300075
HP:0001804HP:0012553Hypoplastic thumbnail1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA138310432300075
HP:0001804HP:0008398Hypoplastic fifth fingernail1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA140410432300075
HP:0001804HP:0008398Hypoplastic fifth fingernail1RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA138310432300075
HP:0001804HP:0008398Hypoplastic fifth fingernail1SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0001804HP:0008398Hypoplastic fifth fingernail1SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0001804HP:0012553Hypoplastic thumbnail1SHOX CL E G H6473240Say Carpenter syndromeORPHA126910853312865
HP:0001804HP:0012553Hypoplastic thumbnail1SHOX CL E G H6473240Say Carpenter syndromeORPHA126610853312865
HP:0001804HP:0012553Hypoplastic thumbnail1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0001804HP:0012553Hypoplastic thumbnail1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0001804HP:0008398Hypoplastic fifth fingernail1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0001804HP:0008398Hypoplastic fifth fingernail1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001804HP:0001804Hypoplastic fingernail0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA021029216610911
HP:0001804HP:0001804Hypoplastic fingernail0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA017429216610911
HP:0001804HP:0001804Hypoplastic fingernail0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA025028909300859
HP:0001804HP:0001804Hypoplastic fingernail0CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA024228909300859
HP:0001804HP:0001804Hypoplastic fingernail0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA01092910605185
HP:0001804HP:0001804Hypoplastic fingernail0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA0752910605185
HP:0001804HP:0001804Hypoplastic fingernail0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA047219189614194
HP:0001804HP:0001804Hypoplastic fingernail0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA036119189614194
HP:0001804HP:0001804Hypoplastic fingernail0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA013728526614789
HP:0001804HP:0001804Hypoplastic fingernail0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA012228526614789
HP:0001804HP:0001804Hypoplastic fingernail0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA021587881190198
HP:0001804HP:0001804Hypoplastic fingernail0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA019337881190198
HP:0001804HP:0001804Hypoplastic fingernail0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA07518967606097
HP:0001804HP:0001804Hypoplastic fingernail0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA06518967606097
HP:0001804HP:0001804Hypoplastic fingernail0PTDSS1 CL E G H97912658ORPHA01029587612792
HP:0001804HP:0001804Hypoplastic fingernail0PTDSS1 CL E G H97912658ORPHA0879587612792
HP:0001804HP:0001804Hypoplastic fingernail0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01175724147183
HP:0001804HP:0001804Hypoplastic fingernail0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01075724147183
HP:0001804HP:0001804Hypoplastic fingernail0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA049328984610657
HP:0001804HP:0001804Hypoplastic fingernail0WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA045728984610657
HP:0001804HP:0012553Hypoplastic thumbnail1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA021029216610911
HP:0001804HP:0012553Hypoplastic thumbnail1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA017429216610911
HP:0001804HP:0008398Hypoplastic fifth fingernail1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA021029216610911
HP:0001804HP:0008398Hypoplastic fifth fingernail1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA017429216610911
HP:0001804HP:0012553Hypoplastic thumbnail1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA025028909300859
HP:0001804HP:0012553Hypoplastic thumbnail1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA024228909300859
HP:0001804HP:0008398Hypoplastic fifth fingernail1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA025028909300859
HP:0001804HP:0008398Hypoplastic fifth fingernail1CCDC22 CL E G H289527Typical Joubert syndrome MRI findingsCN228298ORPHA024228909300859
HP:0001804HP:0008398Hypoplastic fifth fingernail1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA01092910605185
HP:0001804HP:0008398Hypoplastic fifth fingernail1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA0752910605185
HP:0001804HP:0012553Hypoplastic thumbnail1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA01092910605185
HP:0001804HP:0012553Hypoplastic thumbnail1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA0752910605185
HP:0001804HP:0012553Hypoplastic thumbnail1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA047219189614194
HP:0001804HP:0012553Hypoplastic thumbnail1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA036119189614194
HP:0001804HP:0008398Hypoplastic fifth fingernail1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA047219189614194
HP:0001804HP:0008398Hypoplastic fifth fingernail1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA036119189614194
HP:0001804HP:0008398Hypoplastic fifth fingernail1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA013728526614789
HP:0001804HP:0008398Hypoplastic fifth fingernail1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA012228526614789
HP:0001804HP:0012553Hypoplastic thumbnail1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA013728526614789
HP:0001804HP:0012553Hypoplastic thumbnail1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA012228526614789
HP:0001804HP:0012553Hypoplastic thumbnail1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA021587881190198
HP:0001804HP:0012553Hypoplastic thumbnail1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA019337881190198
HP:0001804HP:0008398Hypoplastic fifth fingernail1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA021587881190198
HP:0001804HP:0008398Hypoplastic fifth fingernail1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA019337881190198
HP:0001804HP:0008398Hypoplastic fifth fingernail1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA07518967606097
HP:0001804HP:0008398Hypoplastic fifth fingernail1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA06518967606097
HP:0001804HP:0012553Hypoplastic thumbnail1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA07518967606097
HP:0001804HP:0012553Hypoplastic thumbnail1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA06518967606097
HP:0001804HP:0008398Hypoplastic fifth fingernail1PTDSS1 CL E G H97912658ORPHA01029587612792
HP:0001804HP:0008398Hypoplastic fifth fingernail1PTDSS1 CL E G H97912658ORPHA0879587612792
HP:0001804HP:0012553Hypoplastic thumbnail1PTDSS1 CL E G H97912658ORPHA01029587612792
HP:0001804HP:0012553Hypoplastic thumbnail1PTDSS1 CL E G H97912658ORPHA0879587612792
HP:0001804HP:0008398Hypoplastic fifth fingernail1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01175724147183
HP:0001804HP:0008398Hypoplastic fifth fingernail1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01075724147183
HP:0001804HP:0012553Hypoplastic thumbnail1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01175724147183
HP:0001804HP:0012553Hypoplastic thumbnail1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01075724147183
HP:0001804HP:0008398Hypoplastic fifth fingernail1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA049328984610657
HP:0001804HP:0008398Hypoplastic fifth fingernail1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA045728984610657
HP:0001804HP:0012553Hypoplastic thumbnail1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA049328984610657
HP:0001804HP:0012553Hypoplastic thumbnail1WASHC5 CL E G H98977Typical Joubert syndrome MRI findingsCN228298ORPHA045728984610657


Genes (36) :ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BMPER CCDC22 COL11A1 COL11A2 DLL4 DOCK6 DPF2 EOGT GJB2 GJB6 HYMAI IKBKG KCNH1 LBR MBTPS2 MSX1 NOTCH1 PIGN PLAGL1 PLEC PTDSS1 RBPJ ROR2 RPS6KA3 SHOX SMARCA4 SMARCB1 SMARCE1 SOX11 TFAP2A WASHC5

Diseases (23) :974 3473 608022 7 2021 228520 477 96191 464 215140 2273 2228 2059 280633 257 2658 113000 192 240 113620 1465 135900 611816
 

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