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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Small nail (HP:0001792)help
Term ID: 1792
Name: Small nail
Synonym: Hypoplastic nail; Hypoplastic nails; Nail hypoplasia; Small nail; Small nails
Definition: A nail that is diminished in length and width, i.e., underdeveloped nail.
Comments:
Reference: HP:0001792
Genes and Diseases:
 
       Child Nodes:
........expandHypoplastic toenails (HP:0001800) help
................... HP:0011937 Hypoplastic fifth toenail
........expandHypoplastic fingernail (HP:0001804) help
................... HP:0008398 Hypoplastic fifth fingernail
................... HP:0012553 Hypoplastic thumbnail

 Sister Nodes: 
..expandAnonychia (HP:0001798) help
..expandAplastic/hypoplastic toenail (HP:0010624) help
..expandShort nail (HP:0001799) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001792HP:0001792Small nail0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124414631612277
HP:0001792HP:0001792Small nail0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124214631612277
HP:0001792HP:0001792Small nail0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001792HP:0001792Small nail0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001792HP:0001792Small nail0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001792HP:0001792Small nail0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001792HP:0001792Small nail0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0001792HP:0001792Small nail0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0001792HP:0001792Small nail0ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1118854606939
HP:0001792HP:0001792Small nail0ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1115854606939
HP:0001792HP:0001792Small nail0BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM114135126615416
HP:0001792HP:0001792Small nail0BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM113135126615416
HP:0001792HP:0001792Small nail0CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM130461748192090
HP:0001792HP:0001792Small nail0CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM128181748192090
HP:0001792HP:0001792Small nail0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0001792HP:0001792Small nail0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0001792HP:0001792Small nail0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0001792HP:0001792Small nail0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0001792HP:0001792Small nail0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM147219189614194
HP:0001792HP:0001792Small nail0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM136119189614194
HP:0001792HP:0001792Small nail0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0001792HP:0001792Small nail0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0001792HP:0001792Small nail0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0001792HP:0001792Small nail0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0001792HP:0001792Small nail0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001792HP:0001792Small nail0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001792HP:0001792Small nail0EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM111093497604831
HP:0001792HP:0001792Small nail0EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM110143497604831
HP:0001792HP:0001792Small nail0EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM1104719747607261
HP:0001792HP:0001792Small nail0EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM192919747607261
HP:0001792HP:0001792Small nail0FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM15013689176943
HP:0001792HP:0001792Small nail0FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM14663689176943
HP:0001792HP:0001792Small nail0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM117724678610966
HP:0001792HP:0001792Small nail0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM115224678610966
HP:0001792HP:0001792Small nail0GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11494220601146
HP:0001792HP:0001792Small nail0GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11244220601146
HP:0001792HP:0001792Small nail0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0001792HP:0001792Small nail0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0001792HP:0001792Small nail0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0001792HP:0001792Small nail0GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0001792HP:0001792Small nail0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM17834451300037
HP:0001792HP:0001792Small nail0GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM16944451300037
HP:0001792HP:0001792Small nail0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0001792HP:0001792Small nail0GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0001792HP:0001792Small nail0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12174452300168
HP:0001792HP:0001792Small nail0GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12124452300168
HP:0001792HP:0001792Small nail0IHH CL E G H354963446ORPHA11785956600726
HP:0001792HP:0001792Small nail0IHH CL E G H354963446ORPHA11475956600726
HP:0001792HP:0001792Small nail0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001792HP:0001792Small nail0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001792HP:0001792Small nail0MCTP2 CL E G H557841596ORPHA110425636616297
HP:0001792HP:0001792Small nail0MCTP2 CL E G H557841596ORPHA110325636616297
HP:0001792HP:0001792Small nail0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0001792HP:0001792Small nail0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0001792HP:0001792Small nail0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM19216002609188
HP:0001792HP:0001792Small nail0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM16316002609188
HP:0001792HP:0001792Small nail0MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11587391142983
HP:0001792HP:0001792Small nail0MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11507391142983
HP:0001792HP:0001792Small nail0NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM113614377606470
HP:0001792HP:0001792Small nail0NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM111314377606470
HP:0001792HP:0001792Small nail0NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18814378606471
HP:0001792HP:0001792Small nail0NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18014378606471
HP:0001792HP:0001792Small nail0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1124014234606681
HP:0001792HP:0001792Small nail0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1115414234606681
HP:0001792HP:0001792Small nail0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM17232567300170
HP:0001792HP:0001792Small nail0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM16472567300170
HP:0001792HP:0001792Small nail0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14078957311770
HP:0001792HP:0001792Small nail0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM13868957311770
HP:0001792HP:0001792Small nail0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM120126031610274
HP:0001792HP:0001792Small nail0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM113126031610274
HP:0001792HP:0001792Small nail0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM17424488614783
HP:0001792HP:0001792Small nail0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM15624488614783
HP:0001792HP:0001792Small nail0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM165430074614258
HP:0001792HP:0001792Small nail0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM148430074614258
HP:0001792HP:0001792Small nail0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11229277605100
HP:0001792HP:0001792Small nail0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11169277605100
HP:0001792HP:0001792Small nail0RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM1272496605706
HP:0001792HP:0001792Small nail0RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM1268496605706
HP:0001792HP:0001792Small nail0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118513429300379
HP:0001792HP:0001792Small nail0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118113429300379
HP:0001792HP:0001792Small nail0RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM13321679609595
HP:0001792HP:0001792Small nail0RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM12921679609595
HP:0001792HP:0001792Small nail0SMARCAD1 CL E G H56916384ORPHA15818398612761
HP:0001792HP:0001792Small nail0SMARCAD1 CL E G H56916384ORPHA15618398612761
HP:0001792HP:0001792Small nail0SMARCAD1 CL E G H56916181600Keratoderma with scleroatrophy of the extremities181600C0406767OMIM15818398612761
HP:0001792HP:0001792Small nail0SMARCAD1 CL E G H56916181600Keratoderma with scleroatrophy of the extremities181600C0406767OMIM15618398612761
HP:0001792HP:0001792Small nail0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM110416950606247
HP:0001792HP:0001792Small nail0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM17716950606247
HP:0001792HP:0001792Small nail0TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM144415979603273
HP:0001792HP:0001792Small nail0TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM137615979603273
HP:0001792HP:0001792Small nail0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM113125928616144
HP:0001792HP:0001792Small nail0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM112925928616144
HP:0001792HP:0001792Small nail0WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM130913829606268
HP:0001792HP:0001792Small nail0WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM129113829606268
HP:0001792HP:0001804Hypoplastic fingernail1ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124214631612277
HP:0001792HP:0001800Hypoplastic toenails1ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124414631612277
HP:0001792HP:0001800Hypoplastic toenails1ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124214631612277
HP:0001792HP:0001804Hypoplastic fingernail1ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124414631612277
HP:0001792HP:0001804Hypoplastic fingernail1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001792HP:0001800Hypoplastic toenails1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001792HP:0001800Hypoplastic toenails1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001792HP:0001804Hypoplastic fingernail1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001792HP:0001804Hypoplastic fingernail1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001792HP:0001800Hypoplastic toenails1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001792HP:0001800Hypoplastic toenails1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001792HP:0001804Hypoplastic fingernail1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001792HP:0001804Hypoplastic fingernail1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0001792HP:0001804Hypoplastic fingernail1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0001792HP:0001800Hypoplastic toenails1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0001792HP:0001800Hypoplastic toenails1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0001792HP:0001804Hypoplastic fingernail1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1115854606939
HP:0001792HP:0001800Hypoplastic toenails1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1118854606939
HP:0001792HP:0001800Hypoplastic toenails1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1115854606939
HP:0001792HP:0001804Hypoplastic fingernail1ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1118854606939
HP:0001792HP:0001804Hypoplastic fingernail1BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM113135126615416
HP:0001792HP:0001800Hypoplastic toenails1BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM114135126615416
HP:0001792HP:0001800Hypoplastic toenails1BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM113135126615416
HP:0001792HP:0001804Hypoplastic fingernail1BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM114135126615416
HP:0001792HP:0001804Hypoplastic fingernail1CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM128181748192090
HP:0001792HP:0001800Hypoplastic toenails1CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM130461748192090
HP:0001792HP:0001800Hypoplastic toenails1CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM128181748192090
HP:0001792HP:0001804Hypoplastic fingernail1CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM130461748192090
HP:0001792HP:0001800Hypoplastic toenails1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0001792HP:0001800Hypoplastic toenails1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0001792HP:0001804Hypoplastic fingernail1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0001792HP:0001804Hypoplastic fingernail1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0001792HP:0001800Hypoplastic toenails1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0001792HP:0001800Hypoplastic toenails1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0001792HP:0001804Hypoplastic fingernail1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0001792HP:0001804Hypoplastic fingernail1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0001792HP:0001804Hypoplastic fingernail1DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM136119189614194
HP:0001792HP:0001800Hypoplastic toenails1DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM147219189614194
HP:0001792HP:0001800Hypoplastic toenails1DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM136119189614194
HP:0001792HP:0001804Hypoplastic fingernail1DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM147219189614194
HP:0001792HP:0001800Hypoplastic toenails1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0001792HP:0001800Hypoplastic toenails1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0001792HP:0001804Hypoplastic fingernail1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0001792HP:0001804Hypoplastic fingernail1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0001792HP:0001804Hypoplastic fingernail1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0001792HP:0001800Hypoplastic toenails1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0001792HP:0001800Hypoplastic toenails1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0001792HP:0001804Hypoplastic fingernail1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0001792HP:0001804Hypoplastic fingernail1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001792HP:0001800Hypoplastic toenails1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001792HP:0001800Hypoplastic toenails1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001792HP:0001804Hypoplastic fingernail1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001792HP:0001804Hypoplastic fingernail1EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM110143497604831
HP:0001792HP:0001800Hypoplastic toenails1EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM111093497604831
HP:0001792HP:0001800Hypoplastic toenails1EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM110143497604831
HP:0001792HP:0001804Hypoplastic fingernail1EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM111093497604831
HP:0001792HP:0001804Hypoplastic fingernail1EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM192919747607261
HP:0001792HP:0001800Hypoplastic toenails1EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM1104719747607261
HP:0001792HP:0001800Hypoplastic toenails1EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM192919747607261
HP:0001792HP:0001804Hypoplastic fingernail1EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM1104719747607261
HP:0001792HP:0001804Hypoplastic fingernail1FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM14663689176943
HP:0001792HP:0001800Hypoplastic toenails1FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM15013689176943
HP:0001792HP:0001800Hypoplastic toenails1FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM14663689176943
HP:0001792HP:0001804Hypoplastic fingernail1FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM15013689176943
HP:0001792HP:0001804Hypoplastic fingernail1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM115224678610966
HP:0001792HP:0001800Hypoplastic toenails1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM117724678610966
HP:0001792HP:0001800Hypoplastic toenails1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM115224678610966
HP:0001792HP:0001804Hypoplastic fingernail1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM117724678610966
HP:0001792HP:0001804Hypoplastic fingernail1GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11244220601146
HP:0001792HP:0001800Hypoplastic toenails1GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11494220601146
HP:0001792HP:0001800Hypoplastic toenails1GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11244220601146
HP:0001792HP:0001804Hypoplastic fingernail1GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11494220601146
HP:0001792HP:0001804Hypoplastic fingernail1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0001792HP:0001800Hypoplastic toenails1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0001792HP:0001800Hypoplastic toenails1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0001792HP:0001804Hypoplastic fingernail1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0001792HP:0001800Hypoplastic toenails1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0001792HP:0001800Hypoplastic toenails1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0001792HP:0001804Hypoplastic fingernail1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0001792HP:0001804Hypoplastic fingernail1GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0001792HP:0001804Hypoplastic fingernail1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM16944451300037
HP:0001792HP:0001800Hypoplastic toenails1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM17834451300037
HP:0001792HP:0001800Hypoplastic toenails1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM16944451300037
HP:0001792HP:0001804Hypoplastic fingernail1GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM17834451300037
HP:0001792HP:0001800Hypoplastic toenails1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0001792HP:0001800Hypoplastic toenails1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0001792HP:0001804Hypoplastic fingernail1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0001792HP:0001804Hypoplastic fingernail1GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0001792HP:0001804Hypoplastic fingernail1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12124452300168
HP:0001792HP:0001800Hypoplastic toenails1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12174452300168
HP:0001792HP:0001800Hypoplastic toenails1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12124452300168
HP:0001792HP:0001804Hypoplastic fingernail1GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12174452300168
HP:0001792HP:0001800Hypoplastic toenails1IHH CL E G H354963446ORPHA11785956600726
HP:0001792HP:0001800Hypoplastic toenails1IHH CL E G H354963446ORPHA11475956600726
HP:0001792HP:0001804Hypoplastic fingernail1IHH CL E G H354963446ORPHA11785956600726
HP:0001792HP:0001804Hypoplastic fingernail1IHH CL E G H354963446ORPHA11475956600726
HP:0001792HP:0001804Hypoplastic fingernail1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001792HP:0001800Hypoplastic toenails1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001792HP:0001800Hypoplastic toenails1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001792HP:0001804Hypoplastic fingernail1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001792HP:0001800Hypoplastic toenails1MCTP2 CL E G H557841596ORPHA110425636616297
HP:0001792HP:0001800Hypoplastic toenails1MCTP2 CL E G H557841596ORPHA110325636616297
HP:0001792HP:0001804Hypoplastic fingernail1MCTP2 CL E G H557841596ORPHA110425636616297
HP:0001792HP:0001804Hypoplastic fingernail1MCTP2 CL E G H557841596ORPHA110325636616297
HP:0001792HP:0001804Hypoplastic fingernail1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0001792HP:0001800Hypoplastic toenails1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0001792HP:0001800Hypoplastic toenails1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0001792HP:0001804Hypoplastic fingernail1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0001792HP:0001804Hypoplastic fingernail1MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM16316002609188
HP:0001792HP:0001800Hypoplastic toenails1MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM19216002609188
HP:0001792HP:0001800Hypoplastic toenails1MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM16316002609188
HP:0001792HP:0001804Hypoplastic fingernail1MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM19216002609188
HP:0001792HP:0001804Hypoplastic fingernail1MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11507391142983
HP:0001792HP:0001800Hypoplastic toenails1MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11587391142983
HP:0001792HP:0001800Hypoplastic toenails1MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11507391142983
HP:0001792HP:0001804Hypoplastic fingernail1MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11587391142983
HP:0001792HP:0001804Hypoplastic fingernail1NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM111314377606470
HP:0001792HP:0001800Hypoplastic toenails1NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM113614377606470
HP:0001792HP:0001800Hypoplastic toenails1NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM111314377606470
HP:0001792HP:0001804Hypoplastic fingernail1NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM113614377606470
HP:0001792HP:0001804Hypoplastic fingernail1NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18014378606471
HP:0001792HP:0001800Hypoplastic toenails1NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18814378606471
HP:0001792HP:0001800Hypoplastic toenails1NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18014378606471
HP:0001792HP:0001804Hypoplastic fingernail1NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18814378606471
HP:0001792HP:0001804Hypoplastic fingernail1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1115414234606681
HP:0001792HP:0001800Hypoplastic toenails1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1124014234606681
HP:0001792HP:0001800Hypoplastic toenails1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1115414234606681
HP:0001792HP:0001804Hypoplastic fingernail1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1124014234606681
HP:0001792HP:0001804Hypoplastic fingernail1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM16472567300170
HP:0001792HP:0001800Hypoplastic toenails1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM17232567300170
HP:0001792HP:0001800Hypoplastic toenails1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM16472567300170
HP:0001792HP:0001804Hypoplastic fingernail1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM17232567300170
HP:0001792HP:0001804Hypoplastic fingernail1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM13868957311770
HP:0001792HP:0001800Hypoplastic toenails1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14078957311770
HP:0001792HP:0001800Hypoplastic toenails1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM13868957311770
HP:0001792HP:0001804Hypoplastic fingernail1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14078957311770
HP:0001792HP:0001804Hypoplastic fingernail1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM113126031610274
HP:0001792HP:0001800Hypoplastic toenails1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM120126031610274
HP:0001792HP:0001800Hypoplastic toenails1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM113126031610274
HP:0001792HP:0001804Hypoplastic fingernail1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM120126031610274
HP:0001792HP:0001804Hypoplastic fingernail1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM17424488614783
HP:0001792HP:0001804Hypoplastic fingernail1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM15624488614783
HP:0001792HP:0001800Hypoplastic toenails1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM17424488614783
HP:0001792HP:0001800Hypoplastic toenails1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM15624488614783
HP:0001792HP:0001804Hypoplastic fingernail1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM148430074614258
HP:0001792HP:0001800Hypoplastic toenails1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM165430074614258
HP:0001792HP:0001800Hypoplastic toenails1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM148430074614258
HP:0001792HP:0001804Hypoplastic fingernail1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM165430074614258
HP:0001792HP:0001800Hypoplastic toenails1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11229277605100
HP:0001792HP:0001800Hypoplastic toenails1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11169277605100
HP:0001792HP:0001804Hypoplastic fingernail1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11229277605100
HP:0001792HP:0001804Hypoplastic fingernail1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11169277605100
HP:0001792HP:0001804Hypoplastic fingernail1RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM1268496605706
HP:0001792HP:0001800Hypoplastic toenails1RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM1272496605706
HP:0001792HP:0001800Hypoplastic toenails1RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM1268496605706
HP:0001792HP:0001804Hypoplastic fingernail1RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM1272496605706
HP:0001792HP:0001804Hypoplastic fingernail1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118113429300379
HP:0001792HP:0001800Hypoplastic toenails1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118513429300379
HP:0001792HP:0001800Hypoplastic toenails1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118113429300379
HP:0001792HP:0001804Hypoplastic fingernail1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118513429300379
HP:0001792HP:0001804Hypoplastic fingernail1RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM12921679609595
HP:0001792HP:0001800Hypoplastic toenails1RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM13321679609595
HP:0001792HP:0001800Hypoplastic toenails1RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM12921679609595
HP:0001792HP:0001804Hypoplastic fingernail1RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM13321679609595
HP:0001792HP:0001800Hypoplastic toenails1SMARCAD1 CL E G H56916384ORPHA15818398612761
HP:0001792HP:0001800Hypoplastic toenails1SMARCAD1 CL E G H56916384ORPHA15618398612761
HP:0001792HP:0001804Hypoplastic fingernail1SMARCAD1 CL E G H56916384ORPHA15818398612761
HP:0001792HP:0001804Hypoplastic fingernail1SMARCAD1 CL E G H56916384ORPHA15618398612761
HP:0001792HP:0001804Hypoplastic fingernail1SMARCAD1 CL E G H56916181600Keratoderma with scleroatrophy of the extremities181600C0406767OMIM15618398612761
HP:0001792HP:0001800Hypoplastic toenails1SMARCAD1 CL E G H56916181600Keratoderma with scleroatrophy of the extremities181600C0406767OMIM15818398612761
HP:0001792HP:0001800Hypoplastic toenails1SMARCAD1 CL E G H56916181600Keratoderma with scleroatrophy of the extremities181600C0406767OMIM15618398612761
HP:0001792HP:0001804Hypoplastic fingernail1SMARCAD1 CL E G H56916181600Keratoderma with scleroatrophy of the extremities181600C0406767OMIM15818398612761
HP:0001792HP:0001804Hypoplastic fingernail1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM17716950606247
HP:0001792HP:0001800Hypoplastic toenails1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM110416950606247
HP:0001792HP:0001800Hypoplastic toenails1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM17716950606247
HP:0001792HP:0001804Hypoplastic fingernail1STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM110416950606247
HP:0001792HP:0001804Hypoplastic fingernail1TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM137615979603273
HP:0001792HP:0001800Hypoplastic toenails1TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM144415979603273
HP:0001792HP:0001800Hypoplastic toenails1TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM137615979603273
HP:0001792HP:0001804Hypoplastic fingernail1TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM144415979603273
HP:0001792HP:0001804Hypoplastic fingernail1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM112925928616144
HP:0001792HP:0001800Hypoplastic toenails1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM113125928616144
HP:0001792HP:0001800Hypoplastic toenails1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM112925928616144
HP:0001792HP:0001804Hypoplastic fingernail1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM113125928616144
HP:0001792HP:0001804Hypoplastic fingernail1WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM129113829606268
HP:0001792HP:0001800Hypoplastic toenails1WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM130913829606268
HP:0001792HP:0001800Hypoplastic toenails1WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM129113829606268
HP:0001792HP:0001804Hypoplastic fingernail1WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM130913829606268
HP:0001792HP:0012553Hypoplastic thumbnail2ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124214631612277
HP:0001792HP:0011937Hypoplastic fifth toenail2ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124214631612277
HP:0001792HP:0008398Hypoplastic fifth fingernail2ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124414631612277
HP:0001792HP:0008398Hypoplastic fifth fingernail2ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124214631612277
HP:0001792HP:0012553Hypoplastic thumbnail2ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124414631612277
HP:0001792HP:0011937Hypoplastic fifth toenail2ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124414631612277
HP:0001792HP:0012553Hypoplastic thumbnail2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001792HP:0011937Hypoplastic fifth toenail2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001792HP:0008398Hypoplastic fifth fingernail2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001792HP:0008398Hypoplastic fifth fingernail2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001792HP:0012553Hypoplastic thumbnail2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001792HP:0011937Hypoplastic fifth toenail2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001792HP:0011937Hypoplastic fifth toenail2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001792HP:0012553Hypoplastic thumbnail2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001792HP:0008398Hypoplastic fifth fingernail2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001792HP:0008398Hypoplastic fifth fingernail2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0001792HP:0011937Hypoplastic fifth toenail2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001792HP:0012553Hypoplastic thumbnail2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0001792HP:0012553Hypoplastic thumbnail2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0001792HP:0011937Hypoplastic fifth toenail2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0001792HP:0012553Hypoplastic thumbnail2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0001792HP:0011937Hypoplastic fifth toenail2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0001792HP:0008398Hypoplastic fifth fingernail2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM144211110603024
HP:0001792HP:0008398Hypoplastic fifth fingernail2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM138311110603024
HP:0001792HP:0012553Hypoplastic thumbnail2ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1115854606939
HP:0001792HP:0011937Hypoplastic fifth toenail2ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1115854606939
HP:0001792HP:0008398Hypoplastic fifth fingernail2ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1118854606939
HP:0001792HP:0008398Hypoplastic fifth fingernail2ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1115854606939
HP:0001792HP:0012553Hypoplastic thumbnail2ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1118854606939
HP:0001792HP:0011937Hypoplastic fifth toenail2ATP6V1B2 CL E G H526124480Deafness, congenital, with onychodystrophy, autosomal dominant124480C2675730OMIM1118854606939
HP:0001792HP:0012553Hypoplastic thumbnail2BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM113135126615416
HP:0001792HP:0011937Hypoplastic fifth toenail2BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM113135126615416
HP:0001792HP:0008398Hypoplastic fifth fingernail2BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM114135126615416
HP:0001792HP:0008398Hypoplastic fifth fingernail2BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM113135126615416
HP:0001792HP:0012553Hypoplastic thumbnail2BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM114135126615416
HP:0001792HP:0011937Hypoplastic fifth toenail2BHLHA9 CL E G H727857607539Camptosynpolydactyly, complex607539C1843758OMIM114135126615416
HP:0001792HP:0012553Hypoplastic thumbnail2CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM128181748192090
HP:0001792HP:0011937Hypoplastic fifth toenail2CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM128181748192090
HP:0001792HP:0008398Hypoplastic fifth fingernail2CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM130461748192090
HP:0001792HP:0008398Hypoplastic fifth fingernail2CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM128181748192090
HP:0001792HP:0012553Hypoplastic thumbnail2CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM130461748192090
HP:0001792HP:0011937Hypoplastic fifth toenail2CDH1 CL E G H999119580Ectropion inferior cleft lip and or palate119580C1861536OMIM130461748192090
HP:0001792HP:0008398Hypoplastic fifth fingernail2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0001792HP:0008398Hypoplastic fifth fingernail2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0001792HP:0012553Hypoplastic thumbnail2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0001792HP:0011937Hypoplastic fifth toenail2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0001792HP:0012553Hypoplastic thumbnail2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0001792HP:0011937Hypoplastic fifth toenail2CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0001792HP:0008398Hypoplastic fifth fingernail2DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0001792HP:0008398Hypoplastic fifth fingernail2DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0001792HP:0012553Hypoplastic thumbnail2DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0001792HP:0011937Hypoplastic fifth toenail2DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0001792HP:0012553Hypoplastic thumbnail2DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0001792HP:0011937Hypoplastic fifth toenail2DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0001792HP:0012553Hypoplastic thumbnail2DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM136119189614194
HP:0001792HP:0011937Hypoplastic fifth toenail2DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM136119189614194
HP:0001792HP:0008398Hypoplastic fifth fingernail2DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM147219189614194
HP:0001792HP:0008398Hypoplastic fifth fingernail2DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM136119189614194
HP:0001792HP:0012553Hypoplastic thumbnail2DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM147219189614194
HP:0001792HP:0011937Hypoplastic fifth toenail2DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM147219189614194
HP:0001792HP:0008398Hypoplastic fifth fingernail2EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0001792HP:0008398Hypoplastic fifth fingernail2EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0001792HP:0012553Hypoplastic thumbnail2EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0001792HP:0011937Hypoplastic fifth toenail2EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0001792HP:0012553Hypoplastic thumbnail2EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0001792HP:0011937Hypoplastic fifth toenail2EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0001792HP:0012553Hypoplastic thumbnail2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0001792HP:0011937Hypoplastic fifth toenail2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0001792HP:0008398Hypoplastic fifth fingernail2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0001792HP:0008398Hypoplastic fifth fingernail2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0001792HP:0012553Hypoplastic thumbnail2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0001792HP:0011937Hypoplastic fifth toenail2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0001792HP:0012553Hypoplastic thumbnail2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001792HP:0011937Hypoplastic fifth toenail2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001792HP:0008398Hypoplastic fifth fingernail2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001792HP:0008398Hypoplastic fifth fingernail2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001792HP:0012553Hypoplastic thumbnail2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001792HP:0011937Hypoplastic fifth toenail2ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001792HP:0012553Hypoplastic thumbnail2EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM110143497604831
HP:0001792HP:0011937Hypoplastic fifth toenail2EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM110143497604831
HP:0001792HP:0008398Hypoplastic fifth fingernail2EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM111093497604831
HP:0001792HP:0008398Hypoplastic fifth fingernail2EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM110143497604831
HP:0001792HP:0012553Hypoplastic thumbnail2EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM111093497604831
HP:0001792HP:0011937Hypoplastic fifth toenail2EVC CL E G H2121193530Curry-Hall syndrome193530C0457013OMIM111093497604831
HP:0001792HP:0011937Hypoplastic fifth toenail2EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM192919747607261
HP:0001792HP:0012553Hypoplastic thumbnail2EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM192919747607261
HP:0001792HP:0008398Hypoplastic fifth fingernail2EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM1104719747607261
HP:0001792HP:0008398Hypoplastic fifth fingernail2EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM192919747607261
HP:0001792HP:0011937Hypoplastic fifth toenail2EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM1104719747607261
HP:0001792HP:0012553Hypoplastic thumbnail2EVC2 CL E G H132884193530Curry-Hall syndrome193530C0457013OMIM1104719747607261
HP:0001792HP:0012553Hypoplastic thumbnail2FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM14663689176943
HP:0001792HP:0011937Hypoplastic fifth toenail2FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM14663689176943
HP:0001792HP:0008398Hypoplastic fifth fingernail2FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM15013689176943
HP:0001792HP:0008398Hypoplastic fifth fingernail2FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM14663689176943
HP:0001792HP:0011937Hypoplastic fifth toenail2FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM15013689176943
HP:0001792HP:0012553Hypoplastic thumbnail2FGFR2 CL E G H2263123790Cutis Gyrata syndrome of Beare and Stevenson123790C1852406OMIM15013689176943
HP:0001792HP:0012553Hypoplastic thumbnail2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM115224678610966
HP:0001792HP:0011937Hypoplastic fifth toenail2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM115224678610966
HP:0001792HP:0008398Hypoplastic fifth fingernail2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM117724678610966
HP:0001792HP:0008398Hypoplastic fifth fingernail2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM115224678610966
HP:0001792HP:0012553Hypoplastic thumbnail2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM117724678610966
HP:0001792HP:0011937Hypoplastic fifth toenail2FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM117724678610966
HP:0001792HP:0012553Hypoplastic thumbnail2GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11244220601146
HP:0001792HP:0011937Hypoplastic fifth toenail2GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11244220601146
HP:0001792HP:0008398Hypoplastic fifth fingernail2GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11494220601146
HP:0001792HP:0008398Hypoplastic fifth fingernail2GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11244220601146
HP:0001792HP:0011937Hypoplastic fifth toenail2GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11494220601146
HP:0001792HP:0012553Hypoplastic thumbnail2GDF5 CL E G H8200228900Fibular hypoplasia and complex brachydactyly228900C1856738OMIM11494220601146
HP:0001792HP:0012553Hypoplastic thumbnail2GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0001792HP:0011937Hypoplastic fifth toenail2GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0001792HP:0008398Hypoplastic fifth fingernail2GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0001792HP:0008398Hypoplastic fifth fingernail2GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0001792HP:0012553Hypoplastic thumbnail2GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0001792HP:0011937Hypoplastic fifth toenail2GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0001792HP:0008398Hypoplastic fifth fingernail2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0001792HP:0008398Hypoplastic fifth fingernail2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0001792HP:0011937Hypoplastic fifth toenail2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0001792HP:0012553Hypoplastic thumbnail2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA17834451300037
HP:0001792HP:0011937Hypoplastic fifth toenail2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0001792HP:0012553Hypoplastic thumbnail2GPC3 CL E G H2719373Quinquaud's decalvans folliculitisORPHA16944451300037
HP:0001792HP:0012553Hypoplastic thumbnail2GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM16944451300037
HP:0001792HP:0011937Hypoplastic fifth toenail2GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM16944451300037
HP:0001792HP:0008398Hypoplastic fifth fingernail2GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM17834451300037
HP:0001792HP:0008398Hypoplastic fifth fingernail2GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM16944451300037
HP:0001792HP:0012553Hypoplastic thumbnail2GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM17834451300037
HP:0001792HP:0011937Hypoplastic fifth toenail2GPC3 CL E G H2719312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM17834451300037
HP:0001792HP:0008398Hypoplastic fifth fingernail2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0001792HP:0008398Hypoplastic fifth fingernail2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0001792HP:0012553Hypoplastic thumbnail2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0001792HP:0011937Hypoplastic fifth toenail2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12174452300168
HP:0001792HP:0012553Hypoplastic thumbnail2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0001792HP:0011937Hypoplastic fifth toenail2GPC4 CL E G H2239373Quinquaud's decalvans folliculitisORPHA12124452300168
HP:0001792HP:0011937Hypoplastic fifth toenail2GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12124452300168
HP:0001792HP:0012553Hypoplastic thumbnail2GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12124452300168
HP:0001792HP:0008398Hypoplastic fifth fingernail2GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12174452300168
HP:0001792HP:0008398Hypoplastic fifth fingernail2GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12124452300168
HP:0001792HP:0011937Hypoplastic fifth toenail2GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12174452300168
HP:0001792HP:0012553Hypoplastic thumbnail2GPC4 CL E G H2239312870Simpson-Golabi-Behmel syndrome312870C0796154OMIM12174452300168
HP:0001792HP:0008398Hypoplastic fifth fingernail2IHH CL E G H354963446ORPHA11785956600726
HP:0001792HP:0008398Hypoplastic fifth fingernail2IHH CL E G H354963446ORPHA11475956600726
HP:0001792HP:0012553Hypoplastic thumbnail2IHH CL E G H354963446ORPHA11785956600726
HP:0001792HP:0011937Hypoplastic fifth toenail2IHH CL E G H354963446ORPHA11785956600726
HP:0001792HP:0012553Hypoplastic thumbnail2IHH CL E G H354963446ORPHA11475956600726
HP:0001792HP:0011937Hypoplastic fifth toenail2IHH CL E G H354963446ORPHA11475956600726
HP:0001792HP:0012553Hypoplastic thumbnail2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001792HP:0011937Hypoplastic fifth toenail2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001792HP:0008398Hypoplastic fifth fingernail2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001792HP:0008398Hypoplastic fifth fingernail2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0001792HP:0012553Hypoplastic thumbnail2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001792HP:0011937Hypoplastic fifth toenail2KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0001792HP:0008398Hypoplastic fifth fingernail2MCTP2 CL E G H557841596ORPHA110425636616297
HP:0001792HP:0008398Hypoplastic fifth fingernail2MCTP2 CL E G H557841596ORPHA110325636616297
HP:0001792HP:0012553Hypoplastic thumbnail2MCTP2 CL E G H557841596ORPHA110425636616297
HP:0001792HP:0011937Hypoplastic fifth toenail2MCTP2 CL E G H557841596ORPHA110425636616297
HP:0001792HP:0012553Hypoplastic thumbnail2MCTP2 CL E G H557841596ORPHA110325636616297
HP:0001792HP:0011937Hypoplastic fifth toenail2MCTP2 CL E G H557841596ORPHA110325636616297
HP:0001792HP:0012553Hypoplastic thumbnail2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0001792HP:0011937Hypoplastic fifth toenail2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0001792HP:0008398Hypoplastic fifth fingernail2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0001792HP:0008398Hypoplastic fifth fingernail2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0001792HP:0012553Hypoplastic thumbnail2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0001792HP:0011937Hypoplastic fifth toenail2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0001792HP:0012553Hypoplastic thumbnail2MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM16316002609188
HP:0001792HP:0011937Hypoplastic fifth toenail2MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM16316002609188
HP:0001792HP:0008398Hypoplastic fifth fingernail2MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM19216002609188
HP:0001792HP:0008398Hypoplastic fifth fingernail2MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM16316002609188
HP:0001792HP:0012553Hypoplastic thumbnail2MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM19216002609188
HP:0001792HP:0011937Hypoplastic fifth toenail2MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM19216002609188
HP:0001792HP:0012553Hypoplastic thumbnail2MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11507391142983
HP:0001792HP:0011937Hypoplastic fifth toenail2MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11507391142983
HP:0001792HP:0008398Hypoplastic fifth fingernail2MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11587391142983
HP:0001792HP:0008398Hypoplastic fifth fingernail2MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11507391142983
HP:0001792HP:0012553Hypoplastic thumbnail2MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11587391142983
HP:0001792HP:0011937Hypoplastic fifth toenail2MSX1 CL E G H4487189500Hypoplastic enamel-onycholysis-hypohidrosis syndrome189500C0406735OMIM11587391142983
HP:0001792HP:0011937Hypoplastic fifth toenail2NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM111314377606470
HP:0001792HP:0012553Hypoplastic thumbnail2NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM111314377606470
HP:0001792HP:0008398Hypoplastic fifth fingernail2NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM113614377606470
HP:0001792HP:0008398Hypoplastic fifth fingernail2NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM111314377606470
HP:0001792HP:0011937Hypoplastic fifth toenail2NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM113614377606470
HP:0001792HP:0012553Hypoplastic thumbnail2NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM113614377606470
HP:0001792HP:0012553Hypoplastic thumbnail2NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18014378606471
HP:0001792HP:0011937Hypoplastic fifth toenail2NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18014378606471
HP:0001792HP:0008398Hypoplastic fifth fingernail2NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18814378606471
HP:0001792HP:0008398Hypoplastic fifth fingernail2NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18014378606471
HP:0001792HP:0012553Hypoplastic thumbnail2NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18814378606471
HP:0001792HP:0011937Hypoplastic fifth toenail2NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18814378606471
HP:0001792HP:0012553Hypoplastic thumbnail2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1115414234606681
HP:0001792HP:0011937Hypoplastic fifth toenail2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1115414234606681
HP:0001792HP:0008398Hypoplastic fifth fingernail2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1124014234606681
HP:0001792HP:0008398Hypoplastic fifth fingernail2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1115414234606681
HP:0001792HP:0012553Hypoplastic thumbnail2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1124014234606681
HP:0001792HP:0011937Hypoplastic fifth toenail2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1124014234606681
HP:0001792HP:0012553Hypoplastic thumbnail2OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM16472567300170
HP:0001792HP:0011937Hypoplastic fifth toenail2OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM16472567300170
HP:0001792HP:0008398Hypoplastic fifth fingernail2OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM17232567300170
HP:0001792HP:0008398Hypoplastic fifth fingernail2OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM16472567300170
HP:0001792HP:0012553Hypoplastic thumbnail2OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM17232567300170
HP:0001792HP:0011937Hypoplastic fifth toenail2OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM17232567300170
HP:0001792HP:0011937Hypoplastic fifth toenail2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM13868957311770
HP:0001792HP:0012553Hypoplastic thumbnail2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM13868957311770
HP:0001792HP:0008398Hypoplastic fifth fingernail2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14078957311770
HP:0001792HP:0008398Hypoplastic fifth fingernail2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM13868957311770
HP:0001792HP:0011937Hypoplastic fifth toenail2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14078957311770
HP:0001792HP:0012553Hypoplastic thumbnail2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14078957311770
HP:0001792HP:0012553Hypoplastic thumbnail2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM113126031610274
HP:0001792HP:0011937Hypoplastic fifth toenail2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM113126031610274
HP:0001792HP:0008398Hypoplastic fifth fingernail2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM120126031610274
HP:0001792HP:0008398Hypoplastic fifth fingernail2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM113126031610274
HP:0001792HP:0012553Hypoplastic thumbnail2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM120126031610274
HP:0001792HP:0011937Hypoplastic fifth toenail2PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM120126031610274
HP:0001792HP:0012553Hypoplastic thumbnail2POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM17424488614783
HP:0001792HP:0011937Hypoplastic fifth toenail2POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM17424488614783
HP:0001792HP:0012553Hypoplastic thumbnail2POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM15624488614783
HP:0001792HP:0011937Hypoplastic fifth toenail2POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM15624488614783
HP:0001792HP:0008398Hypoplastic fifth fingernail2POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM17424488614783
HP:0001792HP:0008398Hypoplastic fifth fingernail2POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM15624488614783
HP:0001792HP:0012553Hypoplastic thumbnail2POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM148430074614258
HP:0001792HP:0011937Hypoplastic fifth toenail2POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM148430074614258
HP:0001792HP:0008398Hypoplastic fifth fingernail2POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM165430074614258
HP:0001792HP:0008398Hypoplastic fifth fingernail2POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM148430074614258
HP:0001792HP:0012553Hypoplastic thumbnail2POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM165430074614258
HP:0001792HP:0011937Hypoplastic fifth toenail2POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM165430074614258
HP:0001792HP:0008398Hypoplastic fifth fingernail2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11229277605100
HP:0001792HP:0008398Hypoplastic fifth fingernail2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11169277605100
HP:0001792HP:0012553Hypoplastic thumbnail2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11229277605100
HP:0001792HP:0011937Hypoplastic fifth toenail2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11229277605100
HP:0001792HP:0012553Hypoplastic thumbnail2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11169277605100
HP:0001792HP:0011937Hypoplastic fifth toenail2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM11169277605100
HP:0001792HP:0011937Hypoplastic fifth toenail2RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM1268496605706
HP:0001792HP:0012553Hypoplastic thumbnail2RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM1268496605706
HP:0001792HP:0008398Hypoplastic fifth fingernail2RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM1272496605706
HP:0001792HP:0008398Hypoplastic fifth fingernail2RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM1268496605706
HP:0001792HP:0011937Hypoplastic fifth toenail2RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM1272496605706
HP:0001792HP:0012553Hypoplastic thumbnail2RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM1272496605706
HP:0001792HP:0012553Hypoplastic thumbnail2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118113429300379
HP:0001792HP:0011937Hypoplastic fifth toenail2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118113429300379
HP:0001792HP:0008398Hypoplastic fifth fingernail2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118513429300379
HP:0001792HP:0008398Hypoplastic fifth fingernail2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118113429300379
HP:0001792HP:0012553Hypoplastic thumbnail2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118513429300379
HP:0001792HP:0011937Hypoplastic fifth toenail2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118513429300379
HP:0001792HP:0012553Hypoplastic thumbnail2RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM12921679609595
HP:0001792HP:0011937Hypoplastic fifth toenail2RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM12921679609595
HP:0001792HP:0008398Hypoplastic fifth fingernail2RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM13321679609595
HP:0001792HP:0008398Hypoplastic fifth fingernail2RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM12921679609595
HP:0001792HP:0012553Hypoplastic thumbnail2RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM13321679609595
HP:0001792HP:0011937Hypoplastic fifth toenail2RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM13321679609595
HP:0001792HP:0008398Hypoplastic fifth fingernail2SMARCAD1 CL E G H56916384ORPHA15818398612761
HP:0001792HP:0008398Hypoplastic fifth fingernail2SMARCAD1 CL E G H56916384ORPHA15618398612761
HP:0001792HP:0012553Hypoplastic thumbnail2SMARCAD1 CL E G H56916384ORPHA15818398612761
HP:0001792HP:0011937Hypoplastic fifth toenail2SMARCAD1 CL E G H56916384ORPHA15818398612761
HP:0001792HP:0012553Hypoplastic thumbnail2SMARCAD1 CL E G H56916384ORPHA15618398612761
HP:0001792HP:0011937Hypoplastic fifth toenail2SMARCAD1 CL E G H56916384ORPHA15618398612761
HP:0001792HP:0011937Hypoplastic fifth toenail2SMARCAD1 CL E G H56916181600Keratoderma with scleroatrophy of the extremities181600C0406767OMIM15618398612761
HP:0001792HP:0012553Hypoplastic thumbnail2SMARCAD1 CL E G H56916181600Keratoderma with scleroatrophy of the extremities181600C0406767OMIM15618398612761
HP:0001792HP:0008398Hypoplastic fifth fingernail2SMARCAD1 CL E G H56916181600Keratoderma with scleroatrophy of the extremities181600C0406767OMIM15818398612761
HP:0001792HP:0008398Hypoplastic fifth fingernail2SMARCAD1 CL E G H56916181600Keratoderma with scleroatrophy of the extremities181600C0406767OMIM15618398612761
HP:0001792HP:0012553Hypoplastic thumbnail2SMARCAD1 CL E G H56916181600Keratoderma with scleroatrophy of the extremities181600C0406767OMIM15818398612761
HP:0001792HP:0011937Hypoplastic fifth toenail2SMARCAD1 CL E G H56916181600Keratoderma with scleroatrophy of the extremities181600C0406767OMIM15818398612761
HP:0001792HP:0012553Hypoplastic thumbnail2STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM110416950606247
HP:0001792HP:0011937Hypoplastic fifth toenail2STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM110416950606247
HP:0001792HP:0012553Hypoplastic thumbnail2STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM17716950606247
HP:0001792HP:0011937Hypoplastic fifth toenail2STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM17716950606247
HP:0001792HP:0008398Hypoplastic fifth fingernail2STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM110416950606247
HP:0001792HP:0008398Hypoplastic fifth fingernail2STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM17716950606247
HP:0001792HP:0012553Hypoplastic thumbnail2TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM137615979603273
HP:0001792HP:0011937Hypoplastic fifth toenail2TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM137615979603273
HP:0001792HP:0008398Hypoplastic fifth fingernail2TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM144415979603273
HP:0001792HP:0008398Hypoplastic fifth fingernail2TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM137615979603273
HP:0001792HP:0012553Hypoplastic thumbnail2TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM144415979603273
HP:0001792HP:0011937Hypoplastic fifth toenail2TP63 CL E G H8626129400Rapp-Hodgkin ectodermal dysplasia syndrome129400C1785148OMIM144415979603273
HP:0001792HP:0012553Hypoplastic thumbnail2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM112925928616144
HP:0001792HP:0011937Hypoplastic fifth toenail2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM112925928616144
HP:0001792HP:0008398Hypoplastic fifth fingernail2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM113125928616144
HP:0001792HP:0008398Hypoplastic fifth fingernail2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM112925928616144
HP:0001792HP:0012553Hypoplastic thumbnail2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM113125928616144
HP:0001792HP:0011937Hypoplastic fifth toenail2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM113125928616144
HP:0001792HP:0012553Hypoplastic thumbnail2WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM129113829606268
HP:0001792HP:0011937Hypoplastic fifth toenail2WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM129113829606268
HP:0001792HP:0008398Hypoplastic fifth fingernail2WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM130913829606268
HP:0001792HP:0008398Hypoplastic fifth fingernail2WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM129113829606268
HP:0001792HP:0012553Hypoplastic thumbnail2WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM130913829606268
HP:0001792HP:0011937Hypoplastic fifth toenail2WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM130913829606268
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001792HP:0001792Small nail0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM0291430603741
HP:0001792HP:0001792Small nail0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM0285430603741
HP:0001792HP:0001792Small nail0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM020913743607206
HP:0001792HP:0001792Small nail0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM020213743607206
HP:0001792HP:0001792Small nail0C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM026929615626
HP:0001792HP:0001792Small nail0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM019610664617170
HP:0001792HP:0001792Small nail0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM013510664617170
HP:0001792HP:0001792Small nail0POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM016030129602486
HP:0001792HP:0001792Small nail0POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM09530129602486
HP:0001792HP:0001792Small nail0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM07820662608744
HP:0001792HP:0001792Small nail0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM07320662608744
HP:0001792HP:0001804Hypoplastic fingernail1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM0285430603741
HP:0001792HP:0001800Hypoplastic toenails1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM0291430603741
HP:0001792HP:0001800Hypoplastic toenails1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM0285430603741
HP:0001792HP:0001804Hypoplastic fingernail1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM0291430603741
HP:0001792HP:0001804Hypoplastic fingernail1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM020213743607206
HP:0001792HP:0001800Hypoplastic toenails1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM020913743607206
HP:0001792HP:0001800Hypoplastic toenails1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM020213743607206
HP:0001792HP:0001804Hypoplastic fingernail1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM020913743607206
HP:0001792HP:0001804Hypoplastic fingernail1C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM026929615626
HP:0001792HP:0001800Hypoplastic toenails1C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM026929615626
HP:0001792HP:0001804Hypoplastic fingernail1CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM013510664617170
HP:0001792HP:0001800Hypoplastic toenails1CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM019610664617170
HP:0001792HP:0001800Hypoplastic toenails1CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM013510664617170
HP:0001792HP:0001804Hypoplastic fingernail1CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM019610664617170
HP:0001792HP:0001800Hypoplastic toenails1POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM016030129602486
HP:0001792HP:0001800Hypoplastic toenails1POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM09530129602486
HP:0001792HP:0001804Hypoplastic fingernail1POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM016030129602486
HP:0001792HP:0001804Hypoplastic fingernail1POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM09530129602486
HP:0001792HP:0001804Hypoplastic fingernail1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM07320662608744
HP:0001792HP:0001800Hypoplastic toenails1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM07820662608744
HP:0001792HP:0001800Hypoplastic toenails1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM07320662608744
HP:0001792HP:0001804Hypoplastic fingernail1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM07820662608744
HP:0001792HP:0012553Hypoplastic thumbnail2ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM0285430603741
HP:0001792HP:0011937Hypoplastic fifth toenail2ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM0285430603741
HP:0001792HP:0008398Hypoplastic fifth fingernail2ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM0291430603741
HP:0001792HP:0008398Hypoplastic fifth fingernail2ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM0285430603741
HP:0001792HP:0012553Hypoplastic thumbnail2ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM0291430603741
HP:0001792HP:0011937Hypoplastic fifth toenail2ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM0291430603741
HP:0001792HP:0011937Hypoplastic fifth toenail2ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM020213743607206
HP:0001792HP:0012553Hypoplastic thumbnail2ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM020213743607206
HP:0001792HP:0008398Hypoplastic fifth fingernail2ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM020913743607206
HP:0001792HP:0008398Hypoplastic fifth fingernail2ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM020213743607206
HP:0001792HP:0012553Hypoplastic thumbnail2ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM020913743607206
HP:0001792HP:0011937Hypoplastic fifth toenail2ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM020913743607206
HP:0001792HP:0008398Hypoplastic fifth fingernail2C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM026929615626
HP:0001792HP:0011937Hypoplastic fifth toenail2C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM026929615626
HP:0001792HP:0012553Hypoplastic thumbnail2C15orf41 CL E G H84529615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib615631C3810185OMIM026929615626
HP:0001792HP:0012553Hypoplastic thumbnail2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM013510664617170
HP:0001792HP:0011937Hypoplastic fifth toenail2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM013510664617170
HP:0001792HP:0008398Hypoplastic fifth fingernail2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM019610664617170
HP:0001792HP:0008398Hypoplastic fifth fingernail2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM013510664617170
HP:0001792HP:0012553Hypoplastic thumbnail2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM019610664617170
HP:0001792HP:0011937Hypoplastic fifth toenail2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM019610664617170
HP:0001792HP:0008398Hypoplastic fifth fingernail2POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM016030129602486
HP:0001792HP:0008398Hypoplastic fifth fingernail2POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM09530129602486
HP:0001792HP:0011937Hypoplastic fifth toenail2POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM016030129602486
HP:0001792HP:0012553Hypoplastic thumbnail2POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM016030129602486
HP:0001792HP:0011937Hypoplastic fifth toenail2POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM09530129602486
HP:0001792HP:0012553Hypoplastic thumbnail2POP1 CL E G H10940617396Anauxetic dysplasia 2617396C4479357OMIM09530129602486
HP:0001792HP:0012553Hypoplastic thumbnail2SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM07320662608744
HP:0001792HP:0011937Hypoplastic fifth toenail2SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM07320662608744
HP:0001792HP:0008398Hypoplastic fifth fingernail2SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM07820662608744
HP:0001792HP:0008398Hypoplastic fifth fingernail2SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM07320662608744
HP:0001792HP:0012553Hypoplastic thumbnail2SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM07820662608744
HP:0001792HP:0011937Hypoplastic fifth toenail2SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM07820662608744


Genes (108) :ADAMTSL2 ALG3 ALOX12B ALOXE3 ARHGAP31 ARID1A ARID1B ARID2 ATP6V1B2 BAZ1B BHLHA9 BMPER C15ORF41 CCDC22 CDH1 CKAP2L CLIP2 COL11A1 COL11A2 CPT2 CWC27 DLL4 DNAJC21 DOCK6 DPF2 DPH1 DYNC2LI1 EED ELN EOGT ERCC2 EVC EVC2 EZH2 FGFR1 FGFR2 FTO GDF5 GJB2 GJB6 GLI1 GPC3 GPC4 GTF2I GTF2IRD1 HOXA13 HRAS HYMAI IHH IKBKG INPPL1 KCNH1 KDM1A LBR LIG4 LIMK1 LMX1B MBTPS2 MCTP2 MLXIPL MPLKIP MSX1 NECTIN4 NHP2 NOP10 NOTCH1 NSD1 NSUN2 OFD1 PIGA PIGN PIGV PLAGL1 PLEC POC1A POLR3A POP1 PPM1D PPP1CB PTDSS1 RBPJ RFC2 RIPK4 RLIM ROR2 RPS6KA3 RSPO1 SHANK3 SHOC2 SHOX SLC25A24 SLC35D1 SMARCA4 SMARCAD1 SMARCB1 SMARCE1 SOX11 STAMBP SUZ12 TBL2 TBX3 TBX4 TCTN3 TFAP2A TP63 WASHC5 WDR73 WNT10A

Diseases (97) :231050 601110 242100 100300 614607 124480 607539 615631 119580 3255 250410 617052 614219 617561 194050 601675 193530 123790 612938 228900 129500 373 312870 63446 135500 1596 234050 189500 224230 117550 300209 300868 239300 614813 264090 617396 617450 263650 300978 610644 612289 384 181600 614261 129400 251300 224750 974 79499 3473 904 608022 7 2021 228520 608836 616589 616901 289 3447 615297 952 166250 477 3071 96191 464 3144 616728 215140 235 2614 2273 2228 613573 2059 280633 257 2701 2658 1234 113000 192 48652 606232 240 616938 3138 238578 2753 113620 1465 135900 618027 2438 611816 615866
 

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