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:0008038 | HP:0008038 | Aplastic/hypoplastic lacrimal glands | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:180920 | Aplasia of lacrimal and salivary glands | | | | 17 | | |
HP:0008038 | HP:0008038 | Aplastic/hypoplastic lacrimal glands | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0008038 | HP:0008038 | Aplastic/hypoplastic lacrimal glands | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0008038 | HP:0008038 | Aplastic/hypoplastic lacrimal glands | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0008038 | HP:0008038 | Aplastic/hypoplastic lacrimal glands | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0008038 | HP:0008038 | Aplastic/hypoplastic lacrimal glands | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0008038 | HP:0008038 | Aplastic/hypoplastic lacrimal glands | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0008038 | HP:0008038 | Aplastic/hypoplastic lacrimal glands | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | | | | 92 | | |
HP:0008038 | HP:0008038 | Aplastic/hypoplastic lacrimal glands | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0008038 | HP:0008038 | Aplastic/hypoplastic lacrimal glands | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0008038 | HP:0008038 | Aplastic/hypoplastic lacrimal glands | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0008038 | HP:0008038 | Aplastic/hypoplastic lacrimal glands | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | | | | 61 | | |
HP:0008038 | HP:0007656 | Lacrimal gland aplasia | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:180920 | Aplasia of lacrimal and salivary glands | . | | | 17 | | |
HP:0008038 | HP:0007732 | Lacrimal gland hypoplasia | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:180920 | Aplasia of lacrimal and salivary glands | . | | | 17 | | |
HP:0008038 | HP:0007656 | Lacrimal gland aplasia | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0008038 | HP:0007656 | Lacrimal gland aplasia | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0008038 | HP:0007732 | Lacrimal gland hypoplasia | 1 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0008038 | HP:0007656 | Lacrimal gland aplasia | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0008038 | HP:0007656 | Lacrimal gland aplasia | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0008038 | HP:0007732 | Lacrimal gland hypoplasia | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0008038 | HP:0007656 | Lacrimal gland aplasia | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0008038 | HP:0007732 | Lacrimal gland hypoplasia | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0008038 | HP:0007656 | Lacrimal gland aplasia | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0008038 | HP:0007656 | Lacrimal gland aplasia | 1 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040282 - Frequent | | | 92 | | |
HP:0008038 | HP:0007732 | Lacrimal gland hypoplasia | 1 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040283 - Occasional | | | 92 | | |
HP:0008038 | HP:0007732 | Lacrimal gland hypoplasia | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | HP:0040283 - Occasional | | | 61 | | |