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:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | | | | 27 | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | | | | 4 | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | | | | 4 | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0010565 | HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0010565 | HP:0008753 | Aplasia of the epiglottis | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0010565 | HP:0008753 | Aplasia of the epiglottis | 1 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0010565 | HP:0005349 | Hypoplasia of the epiglottis | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0010565 | HP:0008753 | Aplasia of the epiglottis | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0010565 | HP:0008753 | Aplasia of the epiglottis | 1 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | . | | | 4 | | |
HP:0010565 | HP:0005349 | Hypoplasia of the epiglottis | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 17 | | |
HP:0010565 | HP:0005349 | Hypoplasia of the epiglottis | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 175 | | |
HP:0010565 | HP:0005349 | Hypoplasia of the epiglottis | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0010565 | HP:0005349 | Hypoplasia of the epiglottis | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0010565 | HP:0005349 | Hypoplasia of the epiglottis | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0010565 | HP:0005349 | Hypoplasia of the epiglottis | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0010565 | HP:0005349 | Hypoplasia of the epiglottis | 1 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | . | | | 4 | | |
HP:0010565 | HP:0005349 | Hypoplasia of the epiglottis | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040284 - Very rare | | | 143 | | |
HP:0010565 | HP:0005349 | Hypoplasia of the epiglottis | 1 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |