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:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 247 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 342 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | | | | 14 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | | | | 6 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | | | | 2 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:616540 | Epilepsy, progressive myoclonic, 9 | | | | 11 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | MYMK CL E G H | 389827 | 33778 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | | | | 5 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | MYMX CL E G H | 101929726 | 52391 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040281 - Very frequent | | | | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | | | | 41 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | | | | 82 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | PRRX1 CL E G H | 5396 | 9142 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | | | | 4 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | | | | 4 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | | | | 6 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | | | | 68 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 109 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 167 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | | | | 5 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0010295 | HP:0010295 | Aplasia/Hypoplasia of the tongue | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040281 - Very frequent | | | 546 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | . | | | 159 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | HP:0040282 - Frequent | | | 14 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | LMNB2 CL E G H | 84823 | 6638 | OMIM:616540 | Epilepsy, progressive myoclonic, 9 | . | | | 11 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | HP:0040283 - Occasional | | | 101 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | PRRX1 CL E G H | 5396 | 9142 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | . | | | 4 | | |
HP:0010295 | HP:0012730 | Aglossia | 1 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | . | | | 4 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | . | | | 68 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | . | | | 5 | | |
HP:0010295 | HP:0000171 | Microglossia | 1 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | . | | | 78 | | |