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:0001538 | HP:0001538 | Protuberant abdomen | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:614524 | Fibrochondrogenesis 2 | . | | | 222 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:200610 | Achondrogenesis, type II | | | | 284 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | . | | | 284 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040283 - Occasional | | | 41 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040283 - Occasional | | | 5 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | DLL3 CL E G H | 10683 | 2909 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040283 - Occasional | | | 65 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | . | | | | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040281 - Very frequent | | | 240 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | . | | | 18 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | MESP2 CL E G H | 145873 | 29659 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | . | | | 10 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040281 - Very frequent | | | 58 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040283 - Occasional | | | 166 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040281 - Very frequent | | | 110 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | . | | | 164 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | . | | | 133 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0001538 | HP:0001538 | Protuberant abdomen | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |