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:0001802 | HP:0001802 | Absent toenail | 0 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040282 - Frequent | | | 3179 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79499 | Autosomal dominant deafness-onychodystrophy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:124480 | Deafness, congenital, and onychodystrophy, autosomal dominant | | | | 5 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:231568 | Autosomal dominant generalized dystrophic epidermolysis bullosa | HP:0040283 - Occasional | | | 263 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040283 - Occasional | | | 263 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | HP:0040283 - Occasional | | | 263 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 747 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | HP:0040284 - Very rare | | | | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 222 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040283 - Occasional | | | 110 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040282 - Frequent | | | 124 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:616028 | Adams-Oliver syndrome 5 | | | | 452 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001802 | HP:0001802 | Absent toenail | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | . | | | 13 | | |
HP:0001802 | HP:0200105 | Absent fifth toenail | 1 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0001802 | HP:0012555 | Absent nail of hallux | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0001802 | HP:0012555 | Absent nail of hallux | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0001802 | HP:0200105 | Absent fifth toenail | 1 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |