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:0100806 | HP:0100806 | Sepsis | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 130 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ABCA3 CL E G H | 21 | 33 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040284 - Very rare | | | 147 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 135 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 75 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | HP:0040281 - Very frequent | | | 19 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | HP:0040283 - Occasional | | | 58 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040284 - Very rare | | | 68 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 75 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 63 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | APC CL E G H | 324 | 583 | ORPHA:873 | Desmoid tumor | HP:0040283 - Occasional | | | 3179 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 1 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 192 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040283 - Occasional | | | 192 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040282 - Frequent | | | 109 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 6 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | COX8A CL E G H | 1351 | 2294 | OMIM:619059 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15 | | | | 1 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:873 | Desmoid tumor | HP:0040283 - Occasional | | | 88 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 27 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 111 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 54 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 94 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ECE1 CL E G H | 1889 | 3146 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 13 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 67 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 55 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040284 - Very rare | | | 79 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ERBB2 CL E G H | 2064 | 3430 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 77 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | ERBB3 CL E G H | 2065 | 3431 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 12 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | FCGR3B CL E G H | 2215 | 3620 | ORPHA:464370 | Neonatal alloimmune neutropenia | HP:0040283 - Occasional | | | 5 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040284 - Very rare | | | 32 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | HP:0003623 - Neonatal onset | | 37 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | GALM CL E G H | 130589 | 24063 | ORPHA:570422 | Galactose mutarotase deficiency | HP:0040284 - Very rare | | | | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040283 - Occasional | | | 351 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | GDNF CL E G H | 2668 | 4232 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 59 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | HMOX1 CL E G H | 3162 | 5013 | OMIM:614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | | | | 3 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | . | | | | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 7 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 3 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040282 - Frequent | | | 48 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 94 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 110 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 173 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619599 | EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D | | | | 173 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 1 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | LMOD1 CL E G H | 25802 | 6647 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | LMOD1 CL E G H | 25802 | 6647 | OMIM:619362 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3 | | | | | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 3 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | HP:0040283 - Occasional | | | | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | . | | | 17 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | MRTFA CL E G H | 57591 | 14334 | OMIM:618847 | IMMUNODEFICIENCY 66; IMD66 | | | | | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | MYD88 CL E G H | 4615 | 7562 | OMIM:612260 | MYD88 DEFICIENCY; MYD88D | | | | 9 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | 418 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040283 - Occasional | | | 326 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 13 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 67 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 37 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 60 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | NRTN CL E G H | 4902 | 8007 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 4 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | | | | 62 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 43 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040283 - Occasional | | | 107 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | RET CL E G H | 5979 | 9967 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 572 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 2 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SEMA3C CL E G H | 10512 | 10725 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 1 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SEMA3D CL E G H | 223117 | 10726 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 2 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | | | | 47 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SFTPB CL E G H | 6439 | 10801 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040284 - Very rare | | | 51 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SFTPC CL E G H | 6440 | 10802 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040284 - Very rare | | | 33 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 22 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SREBF1 CL E G H | 6720 | 11289 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 1 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 4 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | HP:0040283 - Occasional | | | 98 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040283 - Occasional | | | 56 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040283 - Occasional | | | 1 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0100806 | HP:0100806 | Sepsis | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0100806 | HP:0040187 | Neonatal sepsis | 1 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040283 - Occasional | | | 67 | | |
HP:0100806 | HP:0040187 | Neonatal sepsis | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0100806 | HP:0040187 | Neonatal sepsis | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0100806 | HP:0040187 | Neonatal sepsis | 1 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | . | | | 47 | | |