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:0002212 | HP:0002212 | Curly hair | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | . | | | 8 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | . | | | | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | . | | | 121 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:79414 | Woolly hair nevus | | | | 113 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | . | | | 222 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:34217 | Naxos disease | HP:0040282 - Frequent | | | 222 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:615278 | Cardiofaciocutaneous syndrome 2 | | | | 196 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | KRT25 CL E G H | 147183 | 30839 | OMIM:616760 | Woolly hair, autosomal recessive 3 | | | | 2 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:615279 | Cardiofaciocutaneous syndrome 3 | | | | 134 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1401 | CHAND syndrome | HP:0040281 - Very frequent | | | 69 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:214350 | CHANDS | . | | | 69 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | SOS2 CL E G H | 6655 | 11188 | OMIM:616559 | NOONAN SYNDROME 9; NS9 | | | | 30 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | . | | | 4 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | TCHH CL E G H | 7062 | 11791 | OMIM:617252 | Uncombable hair syndrome 3 | . | | | 1 | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0002212 | HP:0002212 | Curly hair | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |