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:0040170 | HP:0040170 | Abnormality of hair growth | 0 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 2 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | CDSN CL E G H | 1041 | 1802 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 7 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | | | | | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | DSG4 CL E G H | 147409 | 21307 | ORPHA:573 | Monilethrix | | | | 63 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | | | | 86 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | | | | 56 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 257 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | | | | 56 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | GTF2E2 CL E G H | 2961 | 4651 | OMIM:616943 | Trichothiodystrophy 6, nonphotosensitive | | | | 2 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | KRT25 CL E G H | 147183 | 30839 | ORPHA:170 | Woolly hair | | | | 2 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | KRT71 CL E G H | 112802 | 28927 | ORPHA:170 | Woolly hair | | | | 1 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 5 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:170 | Woolly hair | | | | 5 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:194300 | Woolly hair, autosomal dominant | | | | 5 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | KRT81 CL E G H | 3887 | 6458 | ORPHA:573 | Monilethrix | | | | 3 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | KRT83 CL E G H | 3889 | 6460 | ORPHA:573 | Monilethrix | | | | 65 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | KRT86 CL E G H | 3892 | 6463 | ORPHA:573 | Monilethrix | | | | 10 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | LIPH CL E G H | 200879 | 18483 | ORPHA:170 | Woolly hair | | | | 12 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:170 | Woolly hair | | | | 8 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | NR2F1 CL E G H | 7025 | 7975 | OMIM:615722 | Bosch-Boonstra-Schaaf optic atrophy syndrome | | | | 37 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | | | | 3 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | RPL21 CL E G H | 6144 | 10313 | OMIM:615885 | Hypotrichosis 12 | | | | 1 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | | | | 140 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0040170 | HP:0040170 | Abnormality of hair growth | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | | | | 171 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 2 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | CDSN CL E G H | 1041 | 1802 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 7 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | | | | | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | DSG4 CL E G H | 147409 | 21307 | ORPHA:573 | Monilethrix | | | | 63 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | EDAR CL E G H | 10913 | 2895 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | | | | 86 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | EDARADD CL E G H | 128178 | 14341 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | | | | 56 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 257 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | | | | 56 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | GTF2E2 CL E G H | 2961 | 4651 | OMIM:616943 | Trichothiodystrophy 6, nonphotosensitive | | | | 2 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | KRT25 CL E G H | 147183 | 30839 | ORPHA:170 | Woolly hair | | | | 2 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | KRT71 CL E G H | 112802 | 28927 | ORPHA:170 | Woolly hair | | | | 1 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | KRT74 CL E G H | 121391 | 28929 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 5 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | KRT74 CL E G H | 121391 | 28929 | ORPHA:170 | Woolly hair | | | | 5 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | KRT74 CL E G H | 121391 | 28929 | OMIM:194300 | Woolly hair, autosomal dominant | | | | 5 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | KRT81 CL E G H | 3887 | 6458 | ORPHA:573 | Monilethrix | | | | 3 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | KRT83 CL E G H | 3889 | 6460 | ORPHA:573 | Monilethrix | | | | 65 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | KRT86 CL E G H | 3892 | 6463 | ORPHA:573 | Monilethrix | | | | 10 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | LIPH CL E G H | 200879 | 18483 | ORPHA:170 | Woolly hair | | | | 12 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:170 | Woolly hair | | | | 8 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | NR2F1 CL E G H | 7025 | 7975 | OMIM:615722 | Bosch-Boonstra-Schaaf optic atrophy syndrome | | | | 37 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | | | | 3 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | RPL21 CL E G H | 6144 | 10313 | OMIM:615885 | Hypotrichosis 12 | | | | 1 | | |
HP:0040170 | HP:0040169 | Loose anagen hair | 1 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | | | | 140 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0040170 | HP:0011363 | Abnormality of hair growth rate | 1 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | | | | 171 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 2 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | CDSN CL E G H | 1041 | 1802 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 7 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | . | | | | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | DSG4 CL E G H | 147409 | 21307 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 63 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | EDAR CL E G H | 10913 | 2895 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 86 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | EDARADD CL E G H | 128178 | 14341 | OMIM:129490 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | . | | | 56 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | | | | 257 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | GTF2E2 CL E G H | 2961 | 4651 | OMIM:616943 | Trichothiodystrophy 6, nonphotosensitive | | | | 2 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | KRT25 CL E G H | 147183 | 30839 | ORPHA:170 | Woolly hair | HP:0040282 - Frequent | | | 2 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | KRT71 CL E G H | 112802 | 28927 | ORPHA:170 | Woolly hair | HP:0040282 - Frequent | | | 1 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | KRT74 CL E G H | 121391 | 28929 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 5 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | KRT74 CL E G H | 121391 | 28929 | ORPHA:170 | Woolly hair | HP:0040282 - Frequent | | | 5 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | KRT74 CL E G H | 121391 | 28929 | OMIM:194300 | Woolly hair, autosomal dominant | . | | | 5 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | KRT81 CL E G H | 3887 | 6458 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 3 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | KRT83 CL E G H | 3889 | 6460 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 65 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | KRT86 CL E G H | 3892 | 6463 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 10 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | LIPH CL E G H | 200879 | 18483 | ORPHA:170 | Woolly hair | HP:0040282 - Frequent | | | 12 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:170 | Woolly hair | HP:0040282 - Frequent | | | 8 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | NR2F1 CL E G H | 7025 | 7975 | OMIM:615722 | Bosch-Boonstra-Schaaf optic atrophy syndrome | | | | 37 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | . | | | 3 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | RPL21 CL E G H | 6144 | 10313 | OMIM:615885 | Hypotrichosis 12 | . | | | 1 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0040170 | HP:0002217 | Slow-growing hair | 2 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0040170 | HP:0100038 | Slow-growing scalp hair | 3 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 2 | | |
HP:0040170 | HP:0100038 | Slow-growing scalp hair | 3 | CDSN CL E G H | 1041 | 1802 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 7 | | |
HP:0040170 | HP:0100038 | Slow-growing scalp hair | 3 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 257 | | |
HP:0040170 | HP:0100038 | Slow-growing scalp hair | 3 | KRT74 CL E G H | 121391 | 28929 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 5 | | |