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:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | | | | 76 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | | | | 9 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | | | | 169 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | | | | 215 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | CTSK CL E G H | 1513 | 2536 | OMIM:265800 | PYCNODYSOSTOSIS | | | | 39 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | | | | 73 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90650 | Otopalatodigital syndrome type 1 | | | | 493 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | | | | 493 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | | | | 90 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | | | | 3 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | SIX2 CL E G H | 10736 | 10888 | ORPHA:488437 | SIX2-related frontonasal dysplasia | HP:0040281 - Very frequent | | | 2 | | |
HP:0009119 | HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0009119 | HP:0002738 | Hypoplastic frontal sinuses | 1 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0009119 | HP:0002738 | Hypoplastic frontal sinuses | 1 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0009119 | HP:0002738 | Hypoplastic frontal sinuses | 1 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | HP:0040282 - Frequent | | | 9 | | |
HP:0009119 | HP:0002688 | Absent frontal sinuses | 1 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0009119 | HP:0002738 | Hypoplastic frontal sinuses | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0009119 | HP:0002688 | Absent frontal sinuses | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0009119 | HP:0002688 | Absent frontal sinuses | 1 | CTSK CL E G H | 1513 | 2536 | OMIM:265800 | PYCNODYSOSTOSIS | . | | | 39 | | |
HP:0009119 | HP:0002688 | Absent frontal sinuses | 1 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | . | | | 73 | | |
HP:0009119 | HP:0002688 | Absent frontal sinuses | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0009119 | HP:0002738 | Hypoplastic frontal sinuses | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:90650 | Otopalatodigital syndrome type 1 | HP:0040282 - Frequent | | | 493 | | |
HP:0009119 | HP:0002738 | Hypoplastic frontal sinuses | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040282 - Frequent | | | 493 | | |
HP:0009119 | HP:0002688 | Absent frontal sinuses | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0009119 | HP:0002688 | Absent frontal sinuses | 1 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0009119 | HP:0002688 | Absent frontal sinuses | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0009119 | HP:0002738 | Hypoplastic frontal sinuses | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0009119 | HP:0002688 | Absent frontal sinuses | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0009119 | HP:0002738 | Hypoplastic frontal sinuses | 1 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | . | | | 3 | | |
HP:0009119 | HP:0002688 | Absent frontal sinuses | 1 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0009119 | HP:0002738 | Hypoplastic frontal sinuses | 1 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | . | | | 78 | | |