Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | | | | 81 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | ASL CL E G H | 435 | 746 | ORPHA:23 | Argininosuccinic aciduria | | | | 81 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:262000 | Bjornstad syndrome | | | | 72 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1573 | Hypotrichosis with juvenile macular degeneration | | | | 87 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | CDH3 CL E G H | 1001 | 1762 | OMIM:601553 | Hypotrichosis, congenital, with juvenile macular dystrophy | | | | 87 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | DSG4 CL E G H | 147409 | 21307 | OMIM:607903 | Hypotrichosis 6 | | | | 63 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:616390 | Trichothiodystrophy 2, photosensitive | | | | 54 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | | | | 121 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | GTF2E2 CL E G H | 2961 | 4651 | OMIM:616943 | Trichothiodystrophy 6, nonphotosensitive | | | | 2 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | KRT25 CL E G H | 147183 | 30839 | OMIM:616760 | Woolly hair, autosomal recessive 3 | | | | 2 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | | | | 2 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:619692 | TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9 | | | | | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | | | | 9 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | | | | 7 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | PADI3 CL E G H | 51702 | 18337 | OMIM:191480 | UNCOMBABLE HAIR SYNDROME 1; UHS1 | | | | 3 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | | | | 169 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | | | | 98 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | | | | 3 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | | | | | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | | | | 100 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | | | | 4 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | TARS1 CL E G H | 6897 | 11572 | OMIM:618546 | Trichothiodystrophy 7, nonphotosensitive | | | | | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | TCHH CL E G H | 7062 | 11791 | OMIM:617252 | Uncombable hair syndrome 3 | | | | 1 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | TGM3 CL E G H | 7053 | 11779 | OMIM:617251 | Uncombable hair syndrome 2 | | | | 1 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0003328 | HP:0003328 | Abnormal hairshaft morphology | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | | | | 310 | | |
HP:0003328 | HP:0034425 | Reduced hair sulfur content | 1 | CL E G H | | | | | | | | | | |
HP:0003328 | HP:0032470 | Monilethrix | 1 | CL E G H | | | | | | | | | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | ASL CL E G H | 435 | 746 | ORPHA:23 | Argininosuccinic aciduria | HP:0040283 - Occasional | | | 81 | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | . | | | 81 | | |
HP:0003328 | HP:0003329 | Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes | 1 | BCS1L CL E G H | 617 | 1020 | OMIM:262000 | Bjornstad syndrome | . | | | 72 | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | BCS1L CL E G H | 617 | 1020 | OMIM:262000 | Bjornstad syndrome | . | | | 72 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1573 | Hypotrichosis with juvenile macular degeneration | HP:0040282 - Frequent | | | 87 | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | CDH3 CL E G H | 1001 | 1762 | OMIM:601553 | Hypotrichosis, congenital, with juvenile macular dystrophy | | | | 87 | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | DSG4 CL E G H | 147409 | 21307 | OMIM:607903 | Hypotrichosis 6 | HP:0040283 - Occasional | | | 63 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0003328 | HP:0034354 | Trichoschisis | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | ERCC3 CL E G H | 2071 | 3435 | OMIM:616390 | Trichothiodystrophy 2, photosensitive | . | | | 54 | | |
HP:0003328 | HP:0002235 | Pili canaliculi | 1 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | HP:0040281 - Very frequent | | | 121 | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | GTF2E2 CL E G H | 2961 | 4651 | OMIM:616943 | Trichothiodystrophy 6, nonphotosensitive | | | | 2 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | . | | | 3 | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | KRT25 CL E G H | 147183 | 30839 | OMIM:616760 | Woolly hair, autosomal recessive 3 | | | | 2 | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | KRT85 CL E G H | 3891 | 6462 | OMIM:602032 | Ectodermal dysplasia 4, Hair/nail type | . | | | 2 | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | MARS1 CL E G H | 4141 | 6898 | OMIM:619692 | TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9 | | | | | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | . | | | 9 | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | . | | | 7 | | |
HP:0003328 | HP:0002235 | Pili canaliculi | 1 | PADI3 CL E G H | 51702 | 18337 | OMIM:191480 | UNCOMBABLE HAIR SYNDROME 1; UHS1 | | | | 3 | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | . | | | 3 | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | . | | | | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0003328 | HP:0009886 | Trichorrhexis nodosa | 1 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | . | | | 4 | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0003328 | HP:0045055 | Tiger tail banding | 1 | TARS1 CL E G H | 6897 | 11572 | OMIM:618546 | Trichothiodystrophy 7, nonphotosensitive | | | | | | |
HP:0003328 | HP:0002235 | Pili canaliculi | 1 | TCHH CL E G H | 7062 | 11791 | OMIM:617252 | Uncombable hair syndrome 3 | . | | | 1 | | |
HP:0003328 | HP:0002235 | Pili canaliculi | 1 | TGM3 CL E G H | 7053 | 11779 | OMIM:617251 | Uncombable hair syndrome 2 | . | | | 1 | | |
HP:0003328 | HP:0002235 | Pili canaliculi | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |
HP:0003328 | HP:0003777 | Pili torti | 1 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040281 - Very frequent | | | 310 | | |