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:0002028 | HP:0002028 | Chronic diarrhea | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | HP:0040282 - Frequent | | | 58 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | HP:0040281 - Very frequent | | | 49 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040284 - Very rare | | | 78 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | C4B CL E G H | 721 | 1324 | OMIM:614379 | Complement component 4B deficiency | | | | 1 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | CARD8 CL E G H | 22900 | 17057 | OMIM:619079 | INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30 | | | | 1 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | HP:0040284 - Very rare | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | CLMP CL E G H | 79827 | 24039 | OMIM:615237 | Congenital short bowel syndrome | . | | | 7 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | HP:0040283 - Occasional | | | 67 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:614699 | IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 | | | | 10 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040282 - Frequent | | | 114 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040281 - Very frequent | | | 170 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | . | | | 42 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | GUCY2C CL E G H | 2984 | 4688 | OMIM:614616 | Diarrhea 6 | | | | 12 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | . | | | 80 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:615592 | Immunodeficiency 15 | . | | | 4 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | . | | | 48 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040282 - Frequent | | | 140 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | PERCC1 CL E G H | 105371045 | 52293 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040281 - Very frequent | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | HP:0040284 - Very rare | | | 43 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040283 - Occasional | | | 107 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | PPP2R5D CL E G H | 5528 | 9312 | OMIM:616355 | Mental retardation, autosomal dominant 35 | . | | | 10 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | . | | | 3 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | SAA1 CL E G H | 6288 | 10513 | ORPHA:85445 | AA amyloidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | SLC10A2 CL E G H | 6555 | 10906 | OMIM:613291 | Bile acid malabsorption, primary | | | | 6 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040281 - Very frequent | | | 55 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | SLC51A CL E G H | 200931 | 29955 | OMIM:619484 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6 | | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | SLC51B CL E G H | 123264 | 29956 | OMIM:619481 | BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2 | | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | SLC5A1 CL E G H | 6523 | 11036 | OMIM:606824 | Glucose/galactose malabsorption | . | | | 74 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | HP:0040283 - Occasional | | | 1 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | STX3 CL E G H | 6809 | 11438 | OMIM:619446 | RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID | | | | 1 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | . | | | 238 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | TKFC CL E G H | 26007 | 24552 | OMIM:618805 | TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD | | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0002028 | HP:0002028 | Chronic diarrhea | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040282 - Frequent | | | 46 | | |