Human Phenotype Ontology 
Grandparent Node:
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Recurrent infections (HP:0002719)help
Grandparent Node:
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Respiratory tract infection (HP:0011947)help
Parent Node:
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Recurrent respiratory infections (HP:0002205)help
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Recurrent lower respiratory tract infections (HP:0002783)help
Term ID: 2783
Name: Recurrent lower respiratory tract infections
Synonym: Chronic lung infections; Lower respiratory tract infections; Recurrent chest infections
Definition: An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Comments:
Reference: HP:0002783
Genes and Diseases:
 
       Child Nodes:
........expandRecurrent pneumonia (HP:0006532) help
........expandRecurrent upper and lower respiratory tract infections (HP:0200117) help

 Sister Nodes: 
..expandRecurrent bronchopulmonary infections (HP:0006538) help
..expandRecurrent infections due to aspiration (HP:0004891) help
..expandRecurrent sinopulmonary infections (HP:0005425) help
..expandRecurrent streptococcus pneumoniae infections (HP:0005366) help
..expandRecurrent upper respiratory tract infections (HP:0002788) help
..expandRespiratory infections in early life (HP:0004880) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002783HP:0002783Recurrent lower respiratory tract infections0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ADA CL E G H100186ORPHA:277Severe combined immunodeficiency due to adenosine deaminase deficiency75
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0002783HP:0002783Recurrent lower respiratory tract infections0AICDA CL E G H5737913203OMIM:605258Immunodeficiency with hyper-igm, type 258
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ALB CL E G H213399OMIM:616000Analbuminemia104
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ALB CL E G H213399ORPHA:86816Congenital analbuminemiaHP:0040283 - Occasional104
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0002783HP:0002783Recurrent lower respiratory tract infections0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ARHGEF1 CL E G H9138681OMIM:618459Immunodeficiency 62
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ARPC1B CL E G H10095704OMIM:617718Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0002783HP:0002783Recurrent lower respiratory tract infections0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0002783HP:0002783Recurrent lower respiratory tract infections0BLNK CL E G H2976014211OMIM:613502Agammaglobulinemia 4, autosomal recessive4
HP:0002783HP:0002783Recurrent lower respiratory tract infections0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0002783HP:0002783Recurrent lower respiratory tract infections0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0002783HP:0002783Recurrent lower respiratory tract infections0C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive92
HP:0002783HP:0002783Recurrent lower respiratory tract infections0C4B CL E G H7211324OMIM:614379Complement component 4B deficiency1
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CARD10 CL E G H2977516422OMIM:619632IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD895
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CD247 CL E G H9191677OMIM:610163IMMUNODEFICIENCY 25; IMD258
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta8
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta18
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta24
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive6
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CFTR CL E G H10801884ORPHA:60033Idiopathic bronchiectasisHP:0040282 - Frequent1371
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CIITA CL E G H42617067OMIM:209920Bare lymphocyte syndrome, type II.118
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0002783HP:0002783Recurrent lower respiratory tract infections0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0002783HP:0002783Recurrent lower respiratory tract infections0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19.6
HP:0002783HP:0002783Recurrent lower respiratory tract infections0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0002783HP:0002783Recurrent lower respiratory tract infections0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0002783HP:0002783Recurrent lower respiratory tract infections0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0002783HP:0002783Recurrent lower respiratory tract infections0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0002783HP:0002783Recurrent lower respiratory tract infections0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CXCR4 CL E G H78522561ORPHA:51636WHIM syndrome9
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE27
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked111
HP:0002783HP:0002783Recurrent lower respiratory tract infections0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002783HP:0002783Recurrent lower respiratory tract infections0DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiency94
HP:0002783HP:0002783Recurrent lower respiratory tract infections0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type45
HP:0002783HP:0002783Recurrent lower respiratory tract infections0DIP2B CL E G H5760929284OMIM:136630Mental retardation, Fra12a type4
HP:0002783HP:0002783Recurrent lower respiratory tract infections0DNAH11 CL E G H87012942OMIM:611884CILIARY DYSKINESIA, PRIMARY, 7; CILD7542
HP:0002783HP:0002783Recurrent lower respiratory tract infections0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0002783HP:0002783Recurrent lower respiratory tract infections0DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive217
HP:0002783HP:0002783Recurrent lower respiratory tract infections0DRC1 CL E G H9274924245OMIM:615294CILIARY DYSKINESIA, PRIMARY, 21; CILD2144
HP:0002783HP:0002783Recurrent lower respiratory tract infections0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney disease4
HP:0002783HP:0002783Recurrent lower respiratory tract infections0EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 145
HP:0002783HP:0002783Recurrent lower respiratory tract infections0EGFR CL E G H19563236OMIM:616069Inflammatory skin and bowel disease, neonatal, 2257
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0002783HP:0002783Recurrent lower respiratory tract infections0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0002783HP:0002783Recurrent lower respiratory tract infections0FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 163
HP:0002783HP:0002783Recurrent lower respiratory tract infections0FBXW7 CL E G H5529416712OMIM:62001222
HP:0002783HP:0002783Recurrent lower respiratory tract infections0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0002783HP:0002783Recurrent lower respiratory tract infections0FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0002783HP:0002783Recurrent lower respiratory tract infections0FCN3 CL E G H85473625OMIM:613860FICOLIN 3 DEFICIENCY1
HP:0002783HP:0002783Recurrent lower respiratory tract infections0FMO3 CL E G H23283771OMIM:602079Trimethylaminuria55
HP:0002783HP:0002783Recurrent lower respiratory tract infections0FOXJ1 CL E G H23023816OMIM:618699CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002783HP:0002783Recurrent lower respiratory tract infections0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0002783HP:0002783Recurrent lower respiratory tract infections0GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:0002783HP:0002783Recurrent lower respiratory tract infections0GAS8 CL E G H26224166OMIM:616726Ciliary dyskinesia, primary, 339
HP:0002783HP:0002783Recurrent lower respiratory tract infections0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0002783HP:0002783Recurrent lower respiratory tract infections0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0002783HP:0002783Recurrent lower respiratory tract infections0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0002783HP:0002783Recurrent lower respiratory tract infections0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum52
HP:0002783HP:0002783Recurrent lower respiratory tract infections0HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 521
HP:0002783HP:0002783Recurrent lower respiratory tract infections0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 132
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive7
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IGLL1 CL E G H35435870OMIM:613500Agammaglobulinemia 2, autosomal recessive3
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002783HP:0002783Recurrent lower respiratory tract infections0IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyHP:0040283 - Occasional94
HP:0002783HP:0002783Recurrent lower respiratory tract infections0JAK3 CL E G H37186193OMIM:600802Scid, autosomal recessive, T-Negative/b-Positive type140
HP:0002783HP:0002783Recurrent lower respiratory tract infections0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiency140
HP:0002783HP:0002783Recurrent lower respiratory tract infections0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndrome3
HP:0002783HP:0002783Recurrent lower respiratory tract infections0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0002783HP:0002783Recurrent lower respiratory tract infections0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0002783HP:0002783Recurrent lower respiratory tract infections0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040282 - Frequent411
HP:0002783HP:0002783Recurrent lower respiratory tract infections0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional92
HP:0002783HP:0002783Recurrent lower respiratory tract infections0LAT CL E G H2704018874OMIM:617514Immunodeficiency 522
HP:0002783HP:0002783Recurrent lower respiratory tract infections0LEP CL E G H39526553OMIM:614962Leptin deficiency or dysfunction47
HP:0002783HP:0002783Recurrent lower respiratory tract infections0LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0002783HP:0002783Recurrent lower respiratory tract infections0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0002783HP:0002783Recurrent lower respiratory tract infections0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0002783HP:0002783Recurrent lower respiratory tract infections0LRRC56 CL E G H11539925430OMIM:618254CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0002783HP:0002783Recurrent lower respiratory tract infections0LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1
HP:0002783HP:0002783Recurrent lower respiratory tract infections0MASP2 CL E G H107476902OMIM:613791Masp2 deficiency41
HP:0002783HP:0002783Recurrent lower respiratory tract infections0MDFIC CL E G H2996928870OMIM:620014
HP:0002783HP:0002783Recurrent lower respiratory tract infections0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0002783HP:0002783Recurrent lower respiratory tract infections0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDG39
HP:0002783HP:0002783Recurrent lower respiratory tract infections0MTHFD1 CL E G H45227432OMIM:617780Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia5
HP:0002783HP:0002783Recurrent lower respiratory tract infections0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040283 - Occasional
HP:0002783HP:0002783Recurrent lower respiratory tract infections0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome706
HP:0002783HP:0002783Recurrent lower respiratory tract infections0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndrome706
HP:0002783HP:0002783Recurrent lower respiratory tract infections0NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I13
HP:0002783HP:0002783Recurrent lower respiratory tract infections0NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II67
HP:0002783HP:0002783Recurrent lower respiratory tract infections0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002783HP:0002783Recurrent lower respiratory tract infections0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0002783HP:0002783Recurrent lower respiratory tract infections0NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0002783HP:0002783Recurrent lower respiratory tract infections0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0002783HP:0002783Recurrent lower respiratory tract infections0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0002783HP:0002783Recurrent lower respiratory tract infections0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0002783HP:0002783Recurrent lower respiratory tract infections0NME5 CL E G H83827853OMIM:620032
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ODAD1 CL E G H9323326560OMIM:615067Ciliary dyskinesia, primary, 20
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ODAD2 CL E G H5513025583OMIM:615451CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0002783HP:0002783Recurrent lower respiratory tract infections0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PIK3CD CL E G H52938977OMIM:619281IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B9
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 3643
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney disease563
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency.52
HP:0002783HP:0002783Recurrent lower respiratory tract infections0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0002783HP:0002783Recurrent lower respiratory tract infections0POLE CL E G H54269177OMIM:615139Facial dysmorphism, immunodeficiency, livedo, and short stature1129
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PRKCD CL E G H55809399OMIM:615559AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS310
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities.42
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion53
HP:0002783HP:0002783Recurrent lower respiratory tract infections0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0002783HP:0002783Recurrent lower respiratory tract infections0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0002783HP:0002783Recurrent lower respiratory tract infections0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom3
HP:0002783HP:0002783Recurrent lower respiratory tract infections0RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0002783HP:0002783Recurrent lower respiratory tract infections0RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiency127
HP:0002783HP:0002783Recurrent lower respiratory tract infections0RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiency50
HP:0002783HP:0002783Recurrent lower respiratory tract infections0RASGRP1 CL E G H101259878OMIM:618534IMMUNODEFICIENCY 64; IMD64
HP:0002783HP:0002783Recurrent lower respiratory tract infections0RFX5 CL E G H59939986OMIM:209920Bare lymphocyte syndrome, type II.38
HP:0002783HP:0002783Recurrent lower respiratory tract infections0RFXANK CL E G H86259987OMIM:209920Bare lymphocyte syndrome, type II.26
HP:0002783HP:0002783Recurrent lower respiratory tract infections0RFXAP CL E G H59949988OMIM:209920Bare lymphocyte syndrome, type II.34
HP:0002783HP:0002783Recurrent lower respiratory tract infections0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndrome7
HP:0002783HP:0002783Recurrent lower respiratory tract infections0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0002783HP:0002783Recurrent lower respiratory tract infections0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SASH3 CL E G H5444015975OMIM:3010821
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 167
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SCNN1A CL E G H633710599ORPHA:60033Idiopathic bronchiectasisHP:0040282 - Frequent67
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 161
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SCNN1B CL E G H633810600ORPHA:60033Idiopathic bronchiectasisHP:0040282 - Frequent61
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 157
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SCNN1G CL E G H634010602ORPHA:60033Idiopathic bronchiectasisHP:0040282 - Frequent57
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0002783HP:0002783Recurrent lower respiratory tract infections0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0002783HP:0002783Recurrent lower respiratory tract infections0STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0002783HP:0002783Recurrent lower respiratory tract infections0STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome110
HP:0002783HP:0002783Recurrent lower respiratory tract infections0STK36 CL E G H2714817209OMIM:619436CILIARY DYSKINESIA, PRIMARY, 46; CILD463
HP:0002783HP:0002783Recurrent lower respiratory tract infections0STX3 CL E G H680911438OMIM:619446RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID1
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic form103
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TNFRSF13C CL E G H11565017755OMIM:613494Immunodeficiency, common variable, 412
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0002783HP:0002783Recurrent lower respiratory tract infections0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002783HP:0002783Recurrent lower respiratory tract infections0UNC119 CL E G H909412565OMIM:615518IMMUNODEFICIENCY 13; IMD1330
HP:0002783HP:0002783Recurrent lower respiratory tract infections0UNG CL E G H737412572OMIM:608106Immunodeficiency with hyper-igm, type 544
HP:0002783HP:0002783Recurrent lower respiratory tract infections0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0002783HP:0002783Recurrent lower respiratory tract infections0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability27
HP:0002783HP:0002783Recurrent lower respiratory tract infections0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0002783HP:0002783Recurrent lower respiratory tract infections0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0002783HP:0002783Recurrent lower respiratory tract infections0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome.65
HP:0002783HP:0002783Recurrent lower respiratory tract infections0WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002783HP:0002783Recurrent lower respiratory tract infections0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 495
HP:0002783HP:0002783Recurrent lower respiratory tract infections0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiency46
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002783HP:0002783Recurrent lower respiratory tract infections0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002783HP:0006532Recurrent pneumonia1AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0002783HP:0006532Recurrent pneumonia1ADA CL E G H100186ORPHA:277Severe combined immunodeficiency due to adenosine deaminase deficiencyHP:0040282 - Frequent75
HP:0002783HP:0006532Recurrent pneumonia1ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1AICDA CL E G H5737913203OMIM:605258Immunodeficiency with hyper-igm, type 2.58
HP:0002783HP:0006532Recurrent pneumonia1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040282 - Frequent68
HP:0002783HP:0006532Recurrent pneumonia1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0002783HP:0006532Recurrent pneumonia1ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0002783HP:0006532Recurrent pneumonia1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0002783HP:0006532Recurrent pneumonia1ARPC1B CL E G H10095704OMIM:617718Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002783HP:0006532Recurrent pneumonia1B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0002783HP:0006532Recurrent pneumonia1BLNK CL E G H2976014211OMIM:613502Agammaglobulinemia 4, autosomal recessive.4
HP:0002783HP:0006532Recurrent pneumonia1BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0002783HP:0006532Recurrent pneumonia1BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0002783HP:0006532Recurrent pneumonia1C3 CL E G H7181318OMIM:613779Complement component 3 deficiency, autosomal recessive92
HP:0002783HP:0006532Recurrent pneumonia1C4B CL E G H7211324OMIM:614379Complement component 4B deficiency1
HP:0002783HP:0006532Recurrent pneumonia1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0002783HP:0006532Recurrent pneumonia1CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0002783HP:0006532Recurrent pneumonia1CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0002783HP:0006532Recurrent pneumonia1CCDC40 CL E G H5503626090OMIM:613808CILIARY DYSKINESIA, PRIMARY, 15; CILD15182
HP:0002783HP:0006532Recurrent pneumonia1CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 2.38
HP:0002783HP:0006532Recurrent pneumonia1CD247 CL E G H9191677OMIM:610163IMMUNODEFICIENCY 25; IMD258
HP:0002783HP:0006532Recurrent pneumonia1CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional8
HP:0002783HP:0006532Recurrent pneumonia1CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0002783HP:0006532Recurrent pneumonia1CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional18
HP:0002783HP:0006532Recurrent pneumonia1CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional24
HP:0002783HP:0006532Recurrent pneumonia1CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive.6
HP:0002783HP:0006532Recurrent pneumonia1CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial.
HP:0002783HP:0006532Recurrent pneumonia1CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0002783HP:0006532Recurrent pneumonia1CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0002783HP:0006532Recurrent pneumonia1COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia.222
HP:0002783HP:0006532Recurrent pneumonia1CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 2.10
HP:0002783HP:0006532Recurrent pneumonia1CXCR4 CL E G H78522561ORPHA:51636WHIM syndromeHP:0040282 - Frequent9
HP:0002783HP:0006532Recurrent pneumonia1CYBA CL E G H15352577OMIM:233690GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE.27
HP:0002783HP:0006532Recurrent pneumonia1CYBB CL E G H15362578OMIM:306400Chronic granulomatous disease, X-linked.111
HP:0002783HP:0006532Recurrent pneumonia1CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiencyHP:0040282 - Frequent94
HP:0002783HP:0006532Recurrent pneumonia1DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0002783HP:0006532Recurrent pneumonia1DNAH11 CL E G H87012942OMIM:611884CILIARY DYSKINESIA, PRIMARY, 7; CILD7542
HP:0002783HP:0006532Recurrent pneumonia1DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0002783HP:0006532Recurrent pneumonia1DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive217
HP:0002783HP:0006532Recurrent pneumonia1DRC1 CL E G H9274924245OMIM:615294CILIARY DYSKINESIA, PRIMARY, 21; CILD2144
HP:0002783HP:0006532Recurrent pneumonia1DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040283 - Occasional4
HP:0002783HP:0006532Recurrent pneumonia1EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040283 - Occasional45
HP:0002783HP:0006532Recurrent pneumonia1EGFR CL E G H19563236OMIM:616069Inflammatory skin and bowel disease, neonatal, 2.257
HP:0002783HP:0006532Recurrent pneumonia1ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0002783HP:0006532Recurrent pneumonia1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0002783HP:0006532Recurrent pneumonia1FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040283 - Occasional63
HP:0002783HP:0006532Recurrent pneumonia1FBXW7 CL E G H5529416712OMIM:62001222
HP:0002783HP:0006532Recurrent pneumonia1FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0002783HP:0006532Recurrent pneumonia1FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0002783HP:0006532Recurrent pneumonia1FMO3 CL E G H23283771OMIM:602079Trimethylaminuria.55
HP:0002783HP:0006532Recurrent pneumonia1GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:0002783HP:0006532Recurrent pneumonia1GAS8 CL E G H26224166OMIM:616726Ciliary dyskinesia, primary, 339
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0002783HP:0006532Recurrent pneumonia1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0002783HP:0006532Recurrent pneumonia1HYDIN CL E G H5476819368OMIM:608647Ciliary dyskinesia, primary, 521
HP:0002783HP:0006532Recurrent pneumonia1ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 1.32
HP:0002783HP:0006532Recurrent pneumonia1ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 2.32
HP:0002783HP:0006532Recurrent pneumonia1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0002783HP:0006532Recurrent pneumonia1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0002783HP:0006532Recurrent pneumonia1IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528
HP:0002783HP:0006532Recurrent pneumonia1IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0002783HP:0006532Recurrent pneumonia1IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0002783HP:0006532Recurrent pneumonia1IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive.7
HP:0002783HP:0006532Recurrent pneumonia1IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0002783HP:0006532Recurrent pneumonia1IGLL1 CL E G H35435870OMIM:613500Agammaglobulinemia 2, autosomal recessive.3
HP:0002783HP:0006532Recurrent pneumonia1IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0002783HP:0006532Recurrent pneumonia1IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0002783HP:0006532Recurrent pneumonia1IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002783HP:0006532Recurrent pneumonia1IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002783HP:0006532Recurrent pneumonia1JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040283 - Occasional140
HP:0002783HP:0006532Recurrent pneumonia1KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0002783HP:0006532Recurrent pneumonia1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0002783HP:0006532Recurrent pneumonia1KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0002783HP:0006532Recurrent pneumonia1LAT CL E G H2704018874OMIM:617514Immunodeficiency 522
HP:0002783HP:0006532Recurrent pneumonia1LEP CL E G H39526553OMIM:614962Leptin deficiency or dysfunction.47
HP:0002783HP:0006532Recurrent pneumonia1LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0002783HP:0006532Recurrent pneumonia1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0002783HP:0006532Recurrent pneumonia1LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040283 - Occasional
HP:0002783HP:0006532Recurrent pneumonia1MASP2 CL E G H107476902OMIM:613791Masp2 deficiency41
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1MDFIC CL E G H2996928870OMIM:620014
HP:0002783HP:0006532Recurrent pneumonia1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0002783HP:0006532Recurrent pneumonia1MTHFD1 CL E G H45227432OMIM:617780Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.5
HP:0002783HP:0006532Recurrent pneumonia1NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0002783HP:0006532Recurrent pneumonia1NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040281 - Very frequent706
HP:0002783HP:0006532Recurrent pneumonia1NCF1 CL E G H6533617660OMIM:233700Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I.13
HP:0002783HP:0006532Recurrent pneumonia1NCF2 CL E G H46887661OMIM:233710Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II.67
HP:0002783HP:0006532Recurrent pneumonia1NFKB1 CL E G H47907794OMIM:616576IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID127
HP:0002783HP:0006532Recurrent pneumonia1NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040281 - Very frequent11
HP:0002783HP:0006532Recurrent pneumonia1NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0002783HP:0006532Recurrent pneumonia1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0002783HP:0006532Recurrent pneumonia1NME5 CL E G H83827853OMIM:620032
HP:0002783HP:0006532Recurrent pneumonia1ODAD1 CL E G H9323326560OMIM:615067Ciliary dyskinesia, primary, 20.
HP:0002783HP:0006532Recurrent pneumonia1ODAD2 CL E G H5513025583OMIM:615451CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002783HP:0006532Recurrent pneumonia1ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0002783HP:0006532Recurrent pneumonia1P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0002783HP:0006532Recurrent pneumonia1PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0002783HP:0006532Recurrent pneumonia1PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040282 - Frequent15
HP:0002783HP:0006532Recurrent pneumonia1PIK3CD CL E G H52938977OMIM:619281IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B9
HP:0002783HP:0006532Recurrent pneumonia1PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040283 - Occasional563
HP:0002783HP:0006532Recurrent pneumonia1PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040283 - Occasional107
HP:0002783HP:0006532Recurrent pneumonia1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0002783HP:0006532Recurrent pneumonia1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040284 - Very rare105
HP:0002783HP:0006532Recurrent pneumonia1POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0002783HP:0006532Recurrent pneumonia1PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040283 - Occasional53
HP:0002783HP:0006532Recurrent pneumonia1RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0002783HP:0006532Recurrent pneumonia1RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0002783HP:0006532Recurrent pneumonia1RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040282 - Frequent127
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040282 - Frequent50
HP:0002783HP:0006532Recurrent pneumonia1RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040282 - Frequent7
HP:0002783HP:0006532Recurrent pneumonia1RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome.15
HP:0002783HP:0006532Recurrent pneumonia1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040282 - Frequent67
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040282 - Frequent61
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040282 - Frequent57
HP:0002783HP:0006532Recurrent pneumonia1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0002783HP:0006532Recurrent pneumonia1SFTPC CL E G H644010802OMIM:610913Surfactant metabolism dysfunction, pulmonary, 233
HP:0002783HP:0006532Recurrent pneumonia1SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0002783HP:0006532Recurrent pneumonia1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0002783HP:0006532Recurrent pneumonia1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0002783HP:0006532Recurrent pneumonia1SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0002783HP:0006532Recurrent pneumonia1SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditaryHP:0040283 - Occasional1
HP:0002783HP:0006532Recurrent pneumonia1STAT3 CL E G H677411364OMIM:147060Hyper-IgE recurrent infection syndrome110
HP:0002783HP:0006532Recurrent pneumonia1STK36 CL E G H2714817209OMIM:619436CILIARY DYSKINESIA, PRIMARY, 46; CILD463
HP:0002783HP:0006532Recurrent pneumonia1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040284 - Very rare16
HP:0002783HP:0006532Recurrent pneumonia1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0002783HP:0006532Recurrent pneumonia1TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0002783HP:0006532Recurrent pneumonia1TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0002783HP:0006532Recurrent pneumonia1TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0002783HP:0006532Recurrent pneumonia1TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0002783HP:0006532Recurrent pneumonia1TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 2.32
HP:0002783HP:0006532Recurrent pneumonia1TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 2.12
HP:0002783HP:0006532Recurrent pneumonia1TNFRSF13C CL E G H11565017755OMIM:613494Immunodeficiency, common variable, 412
HP:0002783HP:0006532Recurrent pneumonia1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0002783HP:0006532Recurrent pneumonia1UNC119 CL E G H909412565OMIM:615518IMMUNODEFICIENCY 13; IMD1330
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1UNG CL E G H737412572OMIM:608106Immunodeficiency with hyper-igm, type 5.44
HP:0002783HP:0006532Recurrent pneumonia1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0002783HP:0006532Recurrent pneumonia1VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0002783HP:0006532Recurrent pneumonia1WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0002783HP:0006532Recurrent pneumonia1WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002783HP:0006532Recurrent pneumonia1WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4HP:0040283 - Occasional95
HP:0002783HP:0006532Recurrent pneumonia1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0002783HP:0200117Recurrent upper and lower respiratory tract infections1ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040282 - Frequent46
HP:0002783HP:0006532Recurrent pneumonia1ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002783HP:0006532Recurrent pneumonia1ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002783HP:0033214Recurrent viral pneumonia2IFIH1 CL E G H6413518873OMIM:619773IMMUNODEFICIENCY 95; IMD9528


Genes (182) :AASS ADA AICDA ALB ALG12 ALMS1 AP3B1 ARHGEF1 ARPC1B ATM B3GALT6 BLNK BTK C3 C4B CARD10 CARMIL2 CAVIN1 CCDC39 CCDC40 CD19 CD247 CD27 CD3D CD3E CD40LG CD79B CFAP410 CFTR CIITA CLPB COL11A2 COL13A1 COL5A1 COL6A1 COL6A2 COL6A3 COLQ CR2 CTCF CTLA4 CXCR4 CYBA CYBB CYBC1 DCLRE1C DDR2 DIP2B DNAH11 DOCK2 DOCK8 DRC1 DZIP1L EFEMP2 EGFR ERCC6 EXTL3 FBLN5 FBXW7 FCGR2A FCHO1 FCN3 FMO3 FOXJ1 G6PC3 GALNS GAS8 GEMIN4 GLI3 GNPTAB GORAB HYDIN HYOU1 ICOS IDH1 IDS IFIH1 IGBP1 IGHG2 IGHM IGKC IGLL1 IL21R IL2RG IL6ST IL7R JAK3 KCNJ6 KPTN LAMA2 LAMB2 LAT LEP LIG1 LMNB1 LRBA LRRC56 LTBP1 MASP2 MDFIC MED25 MGAT2 MTHFD1 MYSM1 NBN NCF1 NCF2 NDUFC2 NFE2L2 NFKB1 NFKB2 NKX2-1 NME5 ODAD1 ODAD2 ORC6 P4HTM PEPD PGM3 PIK3CD PIK3R1 PKHD1 PKP1 PLOD1 PNP POLA1 POLE PRKCD PRKDC PURA PYROXD1 RAC1 RAC2 RAG1 RAG2 RASGRP1 RFX5 RFXANK RFXAP RNF168 RNU4ATAC SASH3 SATB1 SCNN1A SCNN1B SCNN1G SETBP1 SFTPC SIAH1 SLC35C1 SMARCA2 SMARCD2 SOX9 SREBF1 STAT3 STK36 STX3 TBCD TBX1 TCF3 TGFB1 TK2 TNFRSF11A TNFRSF13B TNFRSF13C TONSL TPP2 TRIM37 TTC26 UNC119 UNG USB1 USP9X VARS1 VPS33A WAS WDR1 WDR19 WDR35 ZAP70 ZBTB7A ZNFX1

Diseases (179) :ORPHA:2203 ORPHA:277 OMIM:102700 OMIM:605258 OMIM:616000 ORPHA:86816 ORPHA:79324 ORPHA:64 OMIM:203800 OMIM:608233 OMIM:618459 OMIM:617718 OMIM:208900 OMIM:609465 OMIM:613502 OMIM:300755 ORPHA:47 OMIM:613779 OMIM:614379 OMIM:619632 OMIM:618131 OMIM:613327 OMIM:613807 OMIM:613808 OMIM:240500 OMIM:610163 ORPHA:169160 OMIM:615122 OMIM:308230 OMIM:612692 OMIM:602271 OMIM:219700 ORPHA:60033 OMIM:209920 OMIM:616271 OMIM:215150 OMIM:616720 OMIM:130000 OMIM:254090 ORPHA:98915 ORPHA:363611 OMIM:616100 ORPHA:51636 OMIM:233690 OMIM:306400 OMIM:618935 ORPHA:275 OMIM:271665 OMIM:136630 OMIM:611884 OMIM:616433 OMIM:243700 OMIM:615294 ORPHA:731 ORPHA:90349 OMIM:616069 OMIM:214150 ORPHA:508533 OMIM:620012 OMIM:619164 OMIM:613860 OMIM:602079 OMIM:618699 OMIM:612541 OMIM:253000 OMIM:616726 OMIM:617913 ORPHA:672 OMIM:252500 OMIM:231070 OMIM:608647 OMIM:233600 OMIM:607594 ORPHA:99646 OMIM:309900 OMIM:615846 OMIM:619773 OMIM:300472 ORPHA:183675 OMIM:601495 OMIM:613500 OMIM:615207 OMIM:300400 OMIM:619752 OMIM:619750 ORPHA:169154 OMIM:600802 ORPHA:35078 ORPHA:435628 ORPHA:397612 OMIM:615637 ORPHA:258 OMIM:617514 OMIM:614962 OMIM:619774 OMIM:619179 OMIM:614700 OMIM:618254 OMIM:613791 OMIM:620014 ORPHA:464738 ORPHA:79329 OMIM:617780 ORPHA:508542 OMIM:251260 ORPHA:647 OMIM:233700 OMIM:233710 OMIM:619170 OMIM:617744 OMIM:616576 ORPHA:293978 OMIM:615577 ORPHA:209905 OMIM:620032 OMIM:615067 OMIM:615451 OMIM:613803 OMIM:618493 OMIM:170100 ORPHA:443811 OMIM:619281 OMIM:616005 ORPHA:158668 OMIM:225400 ORPHA:1900 OMIM:613179 OMIM:301220 OMIM:615139 OMIM:615559 OMIM:615966 ORPHA:314655 OMIM:617258 OMIM:617751 ORPHA:500159 OMIM:618986 ORPHA:331206 OMIM:618534 ORPHA:420741 OMIM:616651 ORPHA:353298 OMIM:301082 OMIM:619229 ORPHA:171876 ORPHA:798 OMIM:610913 OMIM:619314 ORPHA:99843 OMIM:619293 OMIM:617475 OMIM:114290 OMIM:158310 OMIM:615952 OMIM:147060 OMIM:619436 OMIM:619446 ORPHA:496641 OMIM:188400 OMIM:619824 ORPHA:254875 OMIM:612301 OMIM:613494 ORPHA:93357 OMIM:619220 OMIM:253250 OMIM:619534 OMIM:615518 OMIM:608106 OMIM:604173 ORPHA:480880 OMIM:617802 OMIM:617303 OMIM:301000 OMIM:150550 OMIM:614378 OMIM:613610 ORPHA:911 OMIM:619769 OMIM:619644
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.