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:0002224 | HP:0002224 | Woolly hair | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040281 - Very frequent | | | 192 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | DSC2 CL E G H | 1824 | 3036 | OMIM:610476 | Arrhythmogenic right ventricular dysplasia, familial, 11 | . | | | 268 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | DSP CL E G H | 1832 | 3052 | OMIM:605676 | Cardiomyopathy, dilated, with woolly hair and keratoderma | | | | 747 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | . | | | 747 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:65282 | Carvajal syndrome | HP:0040281 - Very frequent | | | 747 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | . | | | 747 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040282 - Frequent | | | 27 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | HP:0040282 - Frequent | | | 121 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:34217 | Naxos disease | HP:0040281 - Very frequent | | | 222 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | | | | 222 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | . | | | 1 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | KRT25 CL E G H | 147183 | 30839 | ORPHA:170 | Woolly hair | HP:0040281 - Very frequent | | | 2 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | KRT71 CL E G H | 112802 | 28927 | OMIM:615896 | Hypotrichosis 13 | . | | | 1 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | KRT71 CL E G H | 112802 | 28927 | ORPHA:170 | Woolly hair | HP:0040281 - Very frequent | | | 1 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:170 | Woolly hair | HP:0040281 - Very frequent | | | 5 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | KRT74 CL E G H | 121391 | 28929 | OMIM:194300 | Woolly hair, autosomal dominant | . | | | 5 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | LIPH CL E G H | 200879 | 18483 | OMIM:604379 | Hypotrichosis 7 | HP:0040283 - Occasional | | | 12 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | LIPH CL E G H | 200879 | 18483 | ORPHA:170 | Woolly hair | HP:0040281 - Very frequent | | | 12 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | LPAR6 CL E G H | 10161 | 15520 | OMIM:278150 | Hypotrichosis 8 | HP:0040283 - Occasional | | | 8 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | LPAR6 CL E G H | 10161 | 15520 | ORPHA:170 | Woolly hair | HP:0040281 - Very frequent | | | 8 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | . | | | 9 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | PADI3 CL E G H | 51702 | 18337 | ORPHA:1410 | Uncombable hair syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619209 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7 | | | | | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619208 | OLMSTED SYNDROME 2; OLMS2 | | | | | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040281 - Very frequent | | | | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | . | | | | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040281 - Very frequent | | | | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | TGM3 CL E G H | 7053 | 11779 | ORPHA:1410 | Uncombable hair syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002224 | HP:0002224 | Woolly hair | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0002224 | HP:0040149 | Woolly scalp hair | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |