Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | | | | 15 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | | | | 75 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 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:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | AICDA CL E G H | 57379 | 13203 | OMIM:605258 | Immunodeficiency with hyper-igm, type 2 | | | | 58 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ALB CL E G H | 213 | 399 | OMIM:616000 | Analbuminemia | | | | 104 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ALB CL E G H | 213 | 399 | ORPHA:86816 | Congenital analbuminemia | HP:0040283 - Occasional | | | 104 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | | | | 4 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | | | | 109 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | C3 CL E G H | 718 | 1318 | OMIM:613779 | Complement component 3 deficiency, autosomal recessive | | | | 92 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | C4B CL E G H | 721 | 1324 | OMIM:614379 | Complement component 4B deficiency | | | | 1 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | | | | 48 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CCDC39 CL E G H | 339829 | 25244 | OMIM:613807 | Ciliary dyskinesia, primary, 14 | | | | 126 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CCDC40 CL E G H | 55036 | 26090 | OMIM:613808 | CILIARY DYSKINESIA, PRIMARY, 15; CILD15 | | | | 182 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 38 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 1371 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 118 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | COL13A1 CL E G H | 1305 | 2190 | OMIM:616720 | Myasthenic syndrome, congenital, 19 | . | | | 6 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | | | | 660 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 90 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 10 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | | | 27 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | | | | 45 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | DIP2B CL E G H | 57609 | 29284 | OMIM:136630 | Mental retardation, Fra12a type | | | | 4 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | DNAH11 CL E G H | 8701 | 2942 | OMIM:611884 | CILIARY DYSKINESIA, PRIMARY, 7; CILD7 | | | | 542 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | DRC1 CL E G H | 92749 | 24245 | OMIM:615294 | CILIARY DYSKINESIA, PRIMARY, 21; CILD21 | | | | 44 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 4 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | | | | 45 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | EGFR CL E G H | 1956 | 3236 | OMIM:616069 | Inflammatory skin and bowel disease, neonatal, 2 | | | | 257 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | | | | 63 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | FCN3 CL E G H | 8547 | 3625 | OMIM:613860 | FICOLIN 3 DEFICIENCY | | | | 1 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | FMO3 CL E G H | 2328 | 3771 | OMIM:602079 | Trimethylaminuria | | | | 55 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | FOXJ1 CL E G H | 2302 | 3816 | OMIM:618699 | CILIARY DYSKINESIA, PRIMARY, 43; CILD43 | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | | | | 123 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | GAS8 CL E G H | 2622 | 4166 | OMIM:616726 | Ciliary dyskinesia, primary, 33 | | | | 9 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | GORAB CL E G H | 92344 | 25676 | OMIM:231070 | Geroderma osteodysplasticum | | | | 52 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | HYDIN CL E G H | 54768 | 19368 | OMIM:608647 | Ciliary dyskinesia, primary, 5 | | | | 21 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 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:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | | | | 3 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | | | | 13 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040282 - Frequent | | | 411 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 92 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | | | | 47 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | LRRC56 CL E G H | 115399 | 25430 | OMIM:618254 | CILIARY DYSKINESIA, PRIMARY, 39; CILD39 | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | MASP2 CL E G H | 10747 | 6902 | OMIM:613791 | Masp2 deficiency | | | | 41 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | MDFIC CL E G H | 29969 | 28870 | OMIM:620014 | | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | | | | 39 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | | | | 5 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | | | | 13 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | | | | 67 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | | | | 51 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | NME5 CL E G H | 8382 | 7853 | OMIM:620032 | | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ODAD1 CL E G H | 93233 | 26560 | OMIM:615067 | Ciliary dyskinesia, primary, 20 | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ODAD2 CL E G H | 55130 | 25583 | OMIM:615451 | CILIARY DYSKINESIA, PRIMARY, 23; CILD23 | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 563 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | | | | 107 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | | | | 105 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | POLE CL E G H | 5426 | 9177 | OMIM:615139 | Facial dysmorphism, immunodeficiency, livedo, and short stature | | | | 1129 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | . | | | 42 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | | | | 53 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | | | | 3 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 38 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 26 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 34 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | | | | 7 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 67 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 67 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 61 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 61 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 57 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 57 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SIAH1 CL E G H | 6477 | 10857 | OMIM:619314 | BURATTI-HAREL SYNDROME; BURHAS | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | STK36 CL E G H | 27148 | 17209 | OMIM:619436 | CILIARY DYSKINESIA, PRIMARY, 46; CILD46 | | | | 3 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | STX3 CL E G H | 6809 | 11438 | OMIM:619446 | RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID | | | | 1 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | | | | 103 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 12 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:613494 | Immunodeficiency, common variable, 4 | | | | 12 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | UNG CL E G H | 7374 | 12572 | OMIM:608106 | Immunodeficiency with hyper-igm, type 5 | | | | 44 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | | | | 27 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | | | | 95 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0002783 | HP:0002783 | Recurrent lower respiratory tract infections | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | 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:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | AICDA CL E G H | 57379 | 13203 | OMIM:605258 | Immunodeficiency with hyper-igm, type 2 | . | | | 58 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040282 - Frequent | | | 68 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | . | | | 4 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | C3 CL E G H | 718 | 1318 | OMIM:613779 | Complement component 3 deficiency, autosomal recessive | | | | 92 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | C4B CL E G H | 721 | 1324 | OMIM:614379 | Complement component 4B deficiency | | | | 1 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | | | | 48 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CCDC39 CL E G H | 339829 | 25244 | OMIM:613807 | Ciliary dyskinesia, primary, 14 | | | | 126 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CCDC40 CL E G H | 55036 | 26090 | OMIM:613808 | CILIARY DYSKINESIA, PRIMARY, 15; CILD15 | | | | 182 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 38 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 8 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 18 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 24 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | . | | | 6 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | . | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | . | | | 222 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 10 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | DNAH11 CL E G H | 8701 | 2942 | OMIM:611884 | CILIARY DYSKINESIA, PRIMARY, 7; CILD7 | | | | 542 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | DRC1 CL E G H | 92749 | 24245 | OMIM:615294 | CILIARY DYSKINESIA, PRIMARY, 21; CILD21 | | | | 44 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 4 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040283 - Occasional | | | 45 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | EGFR CL E G H | 1956 | 3236 | OMIM:616069 | Inflammatory skin and bowel disease, neonatal, 2 | . | | | 257 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040283 - Occasional | | | 63 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | FMO3 CL E G H | 2328 | 3771 | OMIM:602079 | Trimethylaminuria | . | | | 55 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | | | | 123 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | GAS8 CL E G H | 2622 | 4166 | OMIM:616726 | Ciliary dyskinesia, primary, 33 | | | | 9 | | |
HP:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | HYDIN CL E G H | 54768 | 19368 | OMIM:608647 | Ciliary dyskinesia, primary, 5 | | | | 21 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | . | | | 32 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 32 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | . | | | 7 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | . | | | 3 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040283 - Occasional | | | 140 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | LEP CL E G H | 3952 | 6553 | OMIM:614962 | Leptin deficiency or dysfunction | . | | | 47 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040283 - Occasional | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | MASP2 CL E G H | 10747 | 6902 | OMIM:613791 | Masp2 deficiency | | | | 41 | | |
HP:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | MDFIC CL E G H | 29969 | 28870 | OMIM:620014 | | | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | . | | | 5 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | NME5 CL E G H | 8382 | 7853 | OMIM:620032 | | | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ODAD1 CL E G H | 93233 | 26560 | OMIM:615067 | Ciliary dyskinesia, primary, 20 | . | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ODAD2 CL E G H | 55130 | 25583 | OMIM:615451 | CILIARY DYSKINESIA, PRIMARY, 23; CILD23 | | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | . | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040283 - Occasional | | | 563 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040283 - Occasional | | | 107 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | 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:0002783 | HP:0006532 | Recurrent pneumonia | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | HP:0040283 - Occasional | | | 53 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040283 - Occasional | | | 3 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | . | | | 15 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040282 - Frequent | | | 67 | | |
HP:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040282 - Frequent | | | 61 | | |
HP:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040282 - Frequent | | | 57 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040284 - Very rare | | | 143 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | SIAH1 CL E G H | 6477 | 10857 | OMIM:619314 | BURATTI-HAREL SYNDROME; BURHAS | | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | HP:0040283 - Occasional | | | 1 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | STK36 CL E G H | 27148 | 17209 | OMIM:619436 | CILIARY DYSKINESIA, PRIMARY, 46; CILD46 | | | | 3 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040284 - Very rare | | | 16 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040282 - Frequent | | | 103 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 32 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | . | | | 12 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:613494 | Immunodeficiency, common variable, 4 | | | | 12 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | UNG CL E G H | 7374 | 12572 | OMIM:608106 | Immunodeficiency with hyper-igm, type 5 | . | | | 44 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | HP:0040283 - Occasional | | | 95 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0002783 | HP:0200117 | Recurrent upper and lower respiratory tract infections | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0002783 | HP:0006532 | Recurrent pneumonia | 1 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0002783 | HP:0033214 | Recurrent viral pneumonia | 2 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |