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:0000677 | HP:0000677 | Oligodontia | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | . | | | 102 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79499 | Autosomal dominant deafness-onychodystrophy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | HP:0040280 - Obligate | | | 435 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | AXIN2 CL E G H | 8313 | 904 | OMIM:608615 | OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS | | | | 435 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | . | | | 3 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040282 - Frequent | | | 101 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | . | | | 146 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | HP:0040280 - Obligate | | | 115 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | EDA CL E G H | 1896 | 3157 | OMIM:313500 | TOOTH AGENESIS, SELECTIVE, X-LINKED, 1; STHAGX1 | | | | 115 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | EDAR CL E G H | 10913 | 2895 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 86 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | EDARADD CL E G H | 128178 | 14341 | OMIM:224900 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | | | | 56 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | HP:0040280 - Obligate | | | 56 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | HP:0040280 - Obligate | | | 172 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 493 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90650 | Otopalatodigital syndrome type 1 | HP:0040281 - Very frequent | | | 493 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040281 - Very frequent | | | 493 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | . | | | 8 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | HP:0040280 - Obligate | | | 99 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | KREMEN1 CL E G H | 83999 | 17550 | OMIM:617392 | Ectodermal dysplasia 13, Hair/tooth type | . | | | 1 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | HP:0040280 - Obligate | | | 26 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:601216 | Dental anomalies and short stature | . | | | 12 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | HP:0040280 - Obligate | | | 12 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | HP:0040280 - Obligate | | | 58 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | PAX9 CL E G H | 5083 | 8623 | OMIM:604625 | Tooth agenesis, selective, 3 | . | | | 58 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | PIK3C2A CL E G H | 5286 | 8971 | OMIM:618440 | Oculoskeletodental syndrome | | | | | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | HP:0040283 - Occasional | | | 67 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | | | | 2 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | PTHLH CL E G H | 5744 | 9607 | OMIM:613382 | Brachydactyly, type E2 | HP:0040283 - Occasional | | | 6 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:276630 | Symptomatic form of Coffin-Lowry syndrome in female carriers | HP:0040283 - Occasional | | | 65 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | . | | | 34 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | SH3BP2 CL E G H | 6452 | 10825 | ORPHA:184 | Cherubism | HP:0040282 - Frequent | | | 177 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | SH3BP2 CL E G H | 6452 | 10825 | OMIM:118400 | Cherubism | . | | | 177 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2095 | Gorlin-Chaudhry-Moss syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | SMOC2 CL E G H | 64094 | 20323 | OMIM:125400 | Dentin dysplasia, type I, with microdontia and misshapen teeth | | | | 4 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | HP:0040280 - Obligate | | | 8 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | HP:0040280 - Obligate | | | | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | UBR1 CL E G H | 197131 | 16808 | ORPHA:2315 | Johanson-Blizzard syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | HP:0040280 - Obligate | | | 71 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | HP:0040280 - Obligate | | | 4 | | |
HP:0000677 | HP:0000677 | Oligodontia | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0000677 | HP:0012225 | Oligodontia of primary teeth | 1 | CL E G H | | | | | | | | | | |