Human Phenotype
Ontology
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Grandparent Node: Abnormal palate morphology (HP:0000174) | Parent Node: High palate (HP:0000218) | Parent Node: Narrow palate (HP:0000189) | ..Starting node ..High, narrow palate (HP:0002705)
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Term ID: |
2705 |
Name: |
High, narrow palate |
Synonym: |
Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth |
Definition: |
The presence of a high and narrow palate. |
Comments: |
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Reference: |
HP:0002705 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | 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:0002705 | HP:0002705 | High, narrow palate | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:177850 | Pseudoxanthoma elasticum, forme fruste | . | | | 415 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 96 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 94 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040282 - Frequent | | | 34 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | APC CL E G H | 324 | 583 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040283 - Occasional | | | 3179 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 29 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040282 - Frequent | | | 49 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | . | | | 16 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040282 - Frequent | | | 192 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 114 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 5 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 385 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | . | | | 276 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040282 - Frequent | | | 33 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | . | | | 4 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 9 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 31 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 50 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | . | | | 2 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:604841 | Stickler syndrome, type II | | | | 215 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | COPB1 CL E G H | 1315 | 2231 | OMIM:619255 | BARALLE-MACKEN SYNDROME; BARMACS | | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040283 - Occasional | | | 101 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | DDX59 CL E G H | 83479 | 25360 | ORPHA:2919 | Orofaciodigital syndrome type 5 | HP:0040283 - Occasional | | | 2 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040282 - Frequent | | | 164 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040282 - Frequent | | | 27 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 172 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040281 - Very frequent | | | 36 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 1361 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:284979 | Neonatal Marfan syndrome | HP:0040282 - Frequent | | | 1361 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040281 - Very frequent | | | 1361 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:190440 | Trigonocephaly 1 | | | | 172 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:53271 | Muenke syndrome | HP:0040282 - Frequent | | | 145 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 23 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | HP:0040284 - Very rare | | | 143 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040282 - Frequent | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 3 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | 73 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040283 - Occasional | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | KCNJ6 CL E G H | 3763 | 6267 | OMIM:614098 | Keppen-Lubinsky syndrome | . | | | 3 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 13 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 6 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3258 | Cenani-Lenz syndrome | HP:0040283 - Occasional | | | 124 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | . | | | 134 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:3238 | Cardiospondylocarpofacial syndrome | HP:0040281 - Very frequent | | | 11 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:619692 | TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9 | | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 13 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | . | | | 3 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 11 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | . | | | 72 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 418 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 326 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | MYMX CL E G H | 101929726 | 52391 | OMIM:619941 | | | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040283 - Occasional | | | 23 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618239 | Mitochondrial complex I deficiency, nuclear type 17 | | | | 39 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 745 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040282 - Frequent | | | 10 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040282 - Frequent | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | HP:0040281 - Very frequent | | | 144 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | . | | | 544 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 53 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 21 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040282 - Frequent | | | 39 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:202370 | Peroxisome biogenesis disorder 2B | . | | | 99 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040282 - Frequent | | | 12 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040284 - Very rare | | | 105 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 41 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040283 - Occasional | | | 6 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 948 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | . | | | 291 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:266280 | Rapadilino syndrome | . | | | 445 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040281 - Very frequent | | | 90 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | . | | | 9 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040281 - Very frequent | | | 150 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040282 - Frequent | | | 12 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 7 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 260 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 504 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040281 - Very frequent | | | 146 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | . | | | 136 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040283 - Occasional | | | 13 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040282 - Frequent | | | 31 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 162 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 85 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 239 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 253 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 108 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040282 - Frequent | | | 13 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040281 - Very frequent | | | 546 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040282 - Frequent | | | 83 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | | HP:0002705 | HP:0002705 | High, narrow palate | 0 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | HP:0040283 - Occasional | | | 13 | | |
Genes (145) :ABCC6 ACTA1 ACTA2 AFF4 AMER1 ANTXR1 APC ARID2 ARL6 ASXL3 ATN1 ATP7A BBS1 BCOR BCR BMPR1A BRAF CARS1 CCDC22 CCDC28B CDC45 CDC6 CDK10 CDT1 CHD3 CNTN1 COL11A1 COL12A1 COL3A1 COPB1 CPT2 CREBBP CRKL DDX59 DIS3L2 DPM1 DVL1 DVL3 ELN EP300 ERCC2 ERCC3 ERMARD FBN1 FGFR1 FGFR3 FIG4 FOXE3 FOXP2 FZD2 GIPC1 GMNN GNE GPC3 GPC4 GRB10 GTF2E2 GTF2H5 H4C5 HECW2 HEY2 HNRNPK IFT122 INTU IPO8 KCNJ6 KCNK9 KLHL41 LOX LRP4 MAP2K1 MAP3K7 MAPK1 MARS1 MAT2A MCM3AP MED12L MED25 MEGF8 MFAP5 MPLKIP MUSK MYH11 MYLK MYMX NAA10 NDUFAF6 NEB NIPBL NONO NOTCH2NLC NOTCH3 NSD1 ORC1 ORC4 ORC6 PCDHGC4 PCLO PEX1 PEX5 PIEZO2 PIGT PLOD1 POR PRKG1 PTDSS1 PTEN PTPN11 RECQL4 RET RNF113A RUNX2 SCARF2 SIN3A SKI SLC25A12 SLC25A24 SLC6A17 SMAD2 SMAD3 SMAD4 SMARCA2 SMG9 SMS SPEN SPRED1 SPRED2 SPTBN1 TAF1 TAOK1 TARS1 TBCK TBX1 TCTN3 TGFB2 TGFB3 TGFBR1 TGFBR2 TPM3 UBE3B VAC14 VPS13B WASHC5 WNT5A WNT7A
Diseases (105) :OMIM:177850 ORPHA:171433 ORPHA:91387 OMIM:616368 ORPHA:2780 OMIM:230740 ORPHA:3258 OMIM:617808 OMIM:209900 ORPHA:352577 OMIM:618494 ORPHA:198 OMIM:309800 ORPHA:261330 ORPHA:79076 OMIM:163950 ORPHA:33364 ORPHA:7 ORPHA:2554 OMIM:617694 OMIM:618205 OMIM:612540 OMIM:604841 ORPHA:536516 ORPHA:286 OMIM:619255 ORPHA:228308 OMIM:180849 ORPHA:2919 ORPHA:2849 OMIM:608799 ORPHA:79322 ORPHA:3107 ORPHA:75857 OMIM:616914 ORPHA:284979 ORPHA:2462 OMIM:190440 ORPHA:53271 ORPHA:3472 ORPHA:209908 ORPHA:98897 ORPHA:3166 ORPHA:373 ORPHA:96182 OMIM:619950 OMIM:617268 ORPHA:352665 ORPHA:453504 OMIM:218330 OMIM:617926 OMIM:619472 OMIM:614098 ORPHA:166108 ORPHA:3238 OMIM:619692 OMIM:618124 OMIM:618872 ORPHA:464738 OMIM:614976 OMIM:208150 OMIM:619941 ORPHA:276432 OMIM:618239 OMIM:122470 ORPHA:466791 OMIM:300967 ORPHA:2789 OMIM:117550 OMIM:619880 OMIM:608027 OMIM:214100 OMIM:202370 OMIM:248700 ORPHA:369837 ORPHA:1900 ORPHA:95699 ORPHA:2658 OMIM:266280 OMIM:162300 ORPHA:1452 OMIM:119600 OMIM:600920 OMIM:613406 OMIM:612949 OMIM:612289 ORPHA:457212 OMIM:601358 ORPHA:3051 OMIM:616920 OMIM:309583 OMIM:619312 OMIM:611431 OMIM:619745 OMIM:619475 OMIM:300966 OMIM:619575 ORPHA:488632 OMIM:188400 ORPHA:2753 OMIM:614816 ORPHA:2707 OMIM:216550 ORPHA:193 ORPHA:2879 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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