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:0000971 | HP:0000971 | Abnormal sweat gland morphology | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0000971 | HP:0000971 | Abnormal sweat gland morphology | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |
HP:0000971 | HP:0000971 | Abnormal sweat gland morphology | 0 | KDF1 CL E G H | 126695 | 26624 | OMIM:617337 | Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type | | | | 1 | | |
HP:0000971 | HP:0000971 | Abnormal sweat gland morphology | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0000971 | HP:0000971 | Abnormal sweat gland morphology | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | | | | 645 | | |
HP:0000971 | HP:0000971 | Abnormal sweat gland morphology | 0 | NFKBIA CL E G H | 4792 | 7797 | OMIM:612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT | | | | 27 | | |
HP:0000971 | HP:0000971 | Abnormal sweat gland morphology | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0000971 | HP:0000971 | Abnormal sweat gland morphology | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0000971 | HP:0000971 | Abnormal sweat gland morphology | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0000971 | HP:0000971 | Abnormal sweat gland morphology | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | | | | 83 | | |
HP:0000971 | HP:0034426 | Chromhidrosis | 1 | CL E G H | | | | | | | | | | |
HP:0000971 | HP:0011135 | Aplasia/Hypoplasia of the sweat glands | 1 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0000971 | HP:0011135 | Aplasia/Hypoplasia of the sweat glands | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |
HP:0000971 | HP:0011135 | Aplasia/Hypoplasia of the sweat glands | 1 | KDF1 CL E G H | 126695 | 26624 | OMIM:617337 | Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type | | | | 1 | | |
HP:0000971 | HP:0007500 | Decreased number of sweat glands | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0000971 | HP:0011135 | Aplasia/Hypoplasia of the sweat glands | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | | | | 645 | | |
HP:0000971 | HP:0011135 | Aplasia/Hypoplasia of the sweat glands | 1 | NFKBIA CL E G H | 4792 | 7797 | OMIM:612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT | | | | 27 | | |
HP:0000971 | HP:0011135 | Aplasia/Hypoplasia of the sweat glands | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0000971 | HP:0011135 | Aplasia/Hypoplasia of the sweat glands | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0000971 | HP:0007500 | Decreased number of sweat glands | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |
HP:0000971 | HP:0011135 | Aplasia/Hypoplasia of the sweat glands | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | | | | 83 | | |
HP:0000971 | HP:0007592 | Aplasia/Hypoplastia of the eccrine sweat glands | 2 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0000971 | HP:0011136 | Aplasia of the sweat glands | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |
HP:0000971 | HP:0007592 | Aplasia/Hypoplastia of the eccrine sweat glands | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |
HP:0000971 | HP:0007387 | Hypoplastic sweat glands | 2 | KDF1 CL E G H | 126695 | 26624 | OMIM:617337 | Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type | . | | | 1 | | |
HP:0000971 | HP:0007592 | Aplasia/Hypoplastia of the eccrine sweat glands | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0000971 | HP:0011136 | Aplasia of the sweat glands | 2 | NFKBIA CL E G H | 4792 | 7797 | OMIM:612132 | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT | . | | | 27 | | |
HP:0000971 | HP:0011136 | Aplasia of the sweat glands | 2 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040281 - Very frequent | | | 97 | | |
HP:0000971 | HP:0007397 | Axillary apocrine gland hypoplasia | 2 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0000971 | HP:0007592 | Aplasia/Hypoplastia of the eccrine sweat glands | 2 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 83 | | |
HP:0000971 | HP:0040043 | Hypoplasia of the eccrine sweat glands | 3 | CL E G H | | | | | | | | | | |
HP:0000971 | HP:0040042 | Aplasia of the eccrine sweat glands | 3 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |