Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the immune system (HP:0002715)help
Parent Node:
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Abnormality of immune system physiology (HP:0010978)help
..Starting node
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Immunologic hypersensitivity (HP:0100326)help
Term ID: 100326
Name: Immunologic hypersensitivity
Synonym:
Definition: Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.
Comments:
Reference: HP:0100326
Genes and Diseases:
 
       Child Nodes:
........expandAsthma (HP:0002099) help
................... HP:0012042 Aspirin-induced asthma
................... HP:0012652 Exercise-induced asthma
................... HP:0012653 Status asthmaticus
........expandCeliac disease (HP:0002608) help
........expandAllergy (HP:0012393) help
................... HP:0003193 Allergic rhinitis
................... HP:0007879 Allergic conjunctivitis
................... HP:0012394 Iodine contrast allergy
................... HP:0012395 Seasonal allergy
................... HP:0100327 Cow milk allergy
................... HP:0500093 IgE-mediated food allergy
................... HP:0500094 Latex allergy
........expandAnaphylactic shock (HP:0100845) help
................... HP:0410139 Exercise induced anaphylaxis
................... HP:0410148 Idiopathic anaphylaxis
................... HP:0410149 Drug-induced anaphylaxis
................... HP:0500095 Food-induced anaphylaxis
................... HP:0500096 Venom-induced anaphylaxis

 Sister Nodes: 
..expandAbnormal inflammatory response (HP:0012647) help
..expandAbnormal lymphocyte physiology (HP:0031409) help
..expandAbnormal lymphocyte surface marker expression (HP:0031383) help
..expandAbnormal MHC II surface expression (HP:0031389) help
..expandAbnormality of humoral immunity (HP:0005368) help
..expandAbnormality of immune serum protein physiology (HP:0011111) help
..expandAutoimmunity (HP:0002960) help
..expandChronic infection (HP:0031035) help
..expandImmune dysregulation (HP:0002958) help
..expandImmunodeficiency (HP:0002721) help
..expandImpaired antigen-specific response (HP:0031404) help
..expandOpportunistic infection (HP:0031690) help
..expandRecurrent infections (HP:0002719) help
..expandSepsis (HP:0100806) 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:0100326HP:0100326Immunologic hypersensitivity0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0100326HP:0100326Immunologic hypersensitivity0ADA CL E G H100186ORPHA:277Severe combined immunodeficiency due to adenosine deaminase deficiency75
HP:0100326HP:0100326Immunologic hypersensitivity0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0100326HP:0100326Immunologic hypersensitivity0ADRB2 CL E G H154286OMIM:600807Asthma, susceptibility to5
HP:0100326HP:0100326Immunologic hypersensitivity0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0100326HP:0100326Immunologic hypersensitivity0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0100326HP:0100326Immunologic hypersensitivity0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0100326HP:0100326Immunologic hypersensitivity0ALOX5 CL E G H240435OMIM:600807Asthma, susceptibility to4
HP:0100326HP:0100326Immunologic hypersensitivity0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0100326HP:0100326Immunologic hypersensitivity0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0100326HP:0100326Immunologic hypersensitivity0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0100326HP:0100326Immunologic hypersensitivity0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosis145
HP:0100326HP:0100326Immunologic hypersensitivity0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0100326HP:0100326Immunologic hypersensitivity0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES3
HP:0100326HP:0100326Immunologic hypersensitivity0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0100326HP:0100326Immunologic hypersensitivity0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040282 - Frequent1
HP:0100326HP:0100326Immunologic hypersensitivity0C4B CL E G H7211324OMIM:614379Complement component 4B deficiency1
HP:0100326HP:0100326Immunologic hypersensitivity0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0100326HP:0100326Immunologic hypersensitivity0CARD10 CL E G H2977516422OMIM:619632IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD895
HP:0100326HP:0100326Immunologic hypersensitivity0CARD11 CL E G H8443316393OMIM:617638Immunodeficiency 11B with atopic dermatitis45
HP:0100326HP:0100326Immunologic hypersensitivity0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0100326HP:0100326Immunologic hypersensitivity0CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0100326HP:0100326Immunologic hypersensitivity0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosis317
HP:0100326HP:0100326Immunologic hypersensitivity0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0100326HP:0100326Immunologic hypersensitivity0CCL11 CL E G H635610610OMIM:600807Asthma, susceptibility to2
HP:0100326HP:0100326Immunologic hypersensitivity0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040282 - Frequent
HP:0100326HP:0100326Immunologic hypersensitivity0CDC42BPB CL E G H95781738OMIM:619841
HP:0100326HP:0100326Immunologic hypersensitivity0CDH3 CL E G H10011762ORPHA:1573Hypotrichosis with juvenile macular degenerationHP:0040283 - Occasional87
HP:0100326HP:0100326Immunologic hypersensitivity0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0100326HP:0100326Immunologic hypersensitivity0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0100326HP:0100326Immunologic hypersensitivity0CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0100326HP:0100326Immunologic hypersensitivity0CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 17
HP:0100326HP:0100326Immunologic hypersensitivity0CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0100326HP:0100326Immunologic hypersensitivity0CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0100326HP:0100326Immunologic hypersensitivity0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0100326HP:0100326Immunologic hypersensitivity0CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0100326HP:0100326Immunologic hypersensitivity0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome2
HP:0100326HP:0100326Immunologic hypersensitivity0CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0100326HP:0100326Immunologic hypersensitivity0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0100326HP:0100326Immunologic hypersensitivity0COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis13
HP:0100326HP:0100326Immunologic hypersensitivity0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0100326HP:0100326Immunologic hypersensitivity0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0100326HP:0100326Immunologic hypersensitivity0CSTA CL E G H14752481ORPHA:263534Acral peeling skin syndrome4
HP:0100326HP:0100326Immunologic hypersensitivity0CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0100326HP:0100326Immunologic hypersensitivity0DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0100326HP:0100326Immunologic hypersensitivity0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to23
HP:0100326HP:0100326Immunologic hypersensitivity0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0100326HP:0100326Immunologic hypersensitivity0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0100326HP:0100326Immunologic hypersensitivity0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040283 - Occasional3
HP:0100326HP:0100326Immunologic hypersensitivity0DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiency217
HP:0100326HP:0100326Immunologic hypersensitivity0DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive217
HP:0100326HP:0100326Immunologic hypersensitivity0EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0100326HP:0100326Immunologic hypersensitivity0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0100326HP:0100326Immunologic hypersensitivity0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation62
HP:0100326HP:0100326Immunologic hypersensitivity0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0100326HP:0100326Immunologic hypersensitivity0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040282 - Frequent1
HP:0100326HP:0100326Immunologic hypersensitivity0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0100326HP:0100326Immunologic hypersensitivity0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040282 - Frequent59
HP:0100326HP:0100326Immunologic hypersensitivity0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0100326HP:0100326Immunologic hypersensitivity0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0100326HP:0100326Immunologic hypersensitivity0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0100326HP:0100326Immunologic hypersensitivity0FLG CL E G H23123748OMIM:146700ICHTHYOSIS VULGARIS63
HP:0100326HP:0100326Immunologic hypersensitivity0FOCAD CL E G H5491423377OMIM:6199913
HP:0100326HP:0100326Immunologic hypersensitivity0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0100326HP:0100326Immunologic hypersensitivity0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndrome184
HP:0100326HP:0100326Immunologic hypersensitivity0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome32
HP:0100326HP:0100326Immunologic hypersensitivity0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0100326HP:0100326Immunologic hypersensitivity0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0100326HP:0100326Immunologic hypersensitivity0GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0100326HP:0100326Immunologic hypersensitivity0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0100326HP:0100326Immunologic hypersensitivity0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0100326HP:0100326Immunologic hypersensitivity0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0100326HP:0100326Immunologic hypersensitivity0GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndrome23
HP:0100326HP:0100326Immunologic hypersensitivity0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0100326HP:0100326Immunologic hypersensitivity0GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndrome8
HP:0100326HP:0100326Immunologic hypersensitivity0GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndrome21
HP:0100326HP:0100326Immunologic hypersensitivity0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0100326HP:0100326Immunologic hypersensitivity0GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome33
HP:0100326HP:0100326Immunologic hypersensitivity0GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0100326HP:0100326Immunologic hypersensitivity0HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0100326HP:0100326Immunologic hypersensitivity0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0100326HP:0100326Immunologic hypersensitivity0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040282 - Frequent4
HP:0100326HP:0100326Immunologic hypersensitivity0HLA-DPB1 CL E G H31154940ORPHA:133Chronic beryllium diseaseHP:0040281 - Very frequent1
HP:0100326HP:0100326Immunologic hypersensitivity0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1
HP:0100326HP:0100326Immunologic hypersensitivity0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1
HP:0100326HP:0100326Immunologic hypersensitivity0HLA-G CL E G H31354964OMIM:600807Asthma, susceptibility to
HP:0100326HP:0100326Immunologic hypersensitivity0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0100326HP:0100326Immunologic hypersensitivity0HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0100326HP:0100326Immunologic hypersensitivity0HNMT CL E G H31765028OMIM:600807Asthma, susceptibility to3
HP:0100326HP:0100326Immunologic hypersensitivity0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0100326HP:0100326Immunologic hypersensitivity0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040282 - Frequent60
HP:0100326HP:0100326Immunologic hypersensitivity0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0100326HP:0100326Immunologic hypersensitivity0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0100326HP:0100326Immunologic hypersensitivity0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0100326HP:0100326Immunologic hypersensitivity0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0100326HP:0100326Immunologic hypersensitivity0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040282 - Frequent2
HP:0100326HP:0100326Immunologic hypersensitivity0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040282 - Frequent
HP:0100326HP:0100326Immunologic hypersensitivity0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitis
HP:0100326HP:0100326Immunologic hypersensitivity0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040282 - Frequent
HP:0100326HP:0100326Immunologic hypersensitivity0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitis46
HP:0100326HP:0100326Immunologic hypersensitivity0IL13 CL E G H35965973OMIM:600807Asthma, susceptibility to2
HP:0100326HP:0100326Immunologic hypersensitivity0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040282 - Frequent1
HP:0100326HP:0100326Immunologic hypersensitivity0IL4R CL E G H35666015OMIM:147050Ige responsiveness, atopic3
HP:0100326HP:0100326Immunologic hypersensitivity0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0100326HP:0100326Immunologic hypersensitivity0IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0100326HP:0100326Immunologic hypersensitivity0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0100326HP:0100326Immunologic hypersensitivity0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0100326HP:0100326Immunologic hypersensitivity0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitis4
HP:0100326HP:0100326Immunologic hypersensitivity0IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0100326HP:0100326Immunologic hypersensitivity0JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0100326HP:0100326Immunologic hypersensitivity0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0100326HP:0100326Immunologic hypersensitivity0KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0100326HP:0100326Immunologic hypersensitivity0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0100326HP:0100326Immunologic hypersensitivity0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040282 - Frequent
HP:0100326HP:0100326Immunologic hypersensitivity0KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0100326HP:0100326Immunologic hypersensitivity0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndrome144
HP:0100326HP:0100326Immunologic hypersensitivity0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0100326HP:0100326Immunologic hypersensitivity0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndrome165
HP:0100326HP:0100326Immunologic hypersensitivity0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0100326HP:0100326Immunologic hypersensitivity0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0100326HP:0100326Immunologic hypersensitivity0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040282 - Frequent281
HP:0100326HP:0100326Immunologic hypersensitivity0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0100326HP:0100326Immunologic hypersensitivity0MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0100326HP:0100326Immunologic hypersensitivity0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0100326HP:0100326Immunologic hypersensitivity0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitis
HP:0100326HP:0100326Immunologic hypersensitivity0MS4A2 CL E G H22067316OMIM:147050Ige responsiveness, atopic1
HP:0100326HP:0100326Immunologic hypersensitivity0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0100326HP:0100326Immunologic hypersensitivity0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome68
HP:0100326HP:0100326Immunologic hypersensitivity0MUC7 CL E G H45897518OMIM:600807Asthma, susceptibility to1
HP:0100326HP:0100326Immunologic hypersensitivity0NEK9 CL E G H9175418591OMIM:614262Arthrogryposis, perthes disease, and upward gaze palsy9
HP:0100326HP:0100326Immunologic hypersensitivity0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0100326HP:0100326Immunologic hypersensitivity0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0100326HP:0100326Immunologic hypersensitivity0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0100326HP:0100326Immunologic hypersensitivity0NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0100326HP:0100326Immunologic hypersensitivity0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0100326HP:0100326Immunologic hypersensitivity0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0100326HP:0100326Immunologic hypersensitivity0ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30
HP:0100326HP:0100326Immunologic hypersensitivity0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0100326HP:0100326Immunologic hypersensitivity0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0100326HP:0100326Immunologic hypersensitivity0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0100326HP:0100326Immunologic hypersensitivity0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0100326HP:0100326Immunologic hypersensitivity0PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0100326HP:0100326Immunologic hypersensitivity0PLA2G7 CL E G H79419040OMIM:600807Asthma, susceptibility to5
HP:0100326HP:0100326Immunologic hypersensitivity0PLA2G7 CL E G H79419040OMIM:147050Ige responsiveness, atopic5
HP:0100326HP:0100326Immunologic hypersensitivity0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0100326HP:0100326Immunologic hypersensitivity0PLCG2 CL E G H53369066OMIM:614468FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS321
HP:0100326HP:0100326Immunologic hypersensitivity0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitis
HP:0100326HP:0100326Immunologic hypersensitivity0PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne96
HP:0100326HP:0100326Immunologic hypersensitivity0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0100326HP:0100326Immunologic hypersensitivity0PTGER2 CL E G H57329594OMIM:208550Asthma, nasal polyps, and aspirin intolerance1
HP:0100326HP:0100326Immunologic hypersensitivity0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0100326HP:0100326Immunologic hypersensitivity0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0100326HP:0100326Immunologic hypersensitivity0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0100326HP:0100326Immunologic hypersensitivity0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosis181
HP:0100326HP:0100326Immunologic hypersensitivity0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0100326HP:0100326Immunologic hypersensitivity0SCGB3A2 CL E G H11715618391OMIM:600807Asthma, susceptibility to1
HP:0100326HP:0100326Immunologic hypersensitivity0SCN4A CL E G H632910591ORPHA:99735Myotonia permanens263
HP:0100326HP:0100326Immunologic hypersensitivity0SDHD CL E G H639210683ORPHA:100093Carcinoid syndrome129
HP:0100326HP:0100326Immunologic hypersensitivity0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0100326HP:0100326Immunologic hypersensitivity0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0100326HP:0100326Immunologic hypersensitivity0SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0100326HP:0100326Immunologic hypersensitivity0SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0100326HP:0100326Immunologic hypersensitivity0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0100326HP:0100326Immunologic hypersensitivity0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0100326HP:0100326Immunologic hypersensitivity0SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0100326HP:0100326Immunologic hypersensitivity0SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0100326HP:0100326Immunologic hypersensitivity0SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0100326HP:0100326Immunologic hypersensitivity0SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0100326HP:0100326Immunologic hypersensitivity0SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0100326HP:0100326Immunologic hypersensitivity0SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0100326HP:0100326Immunologic hypersensitivity0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0100326HP:0100326Immunologic hypersensitivity0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitis
HP:0100326HP:0100326Immunologic hypersensitivity0SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome100
HP:0100326HP:0100326Immunologic hypersensitivity0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040281 - Very frequent100
HP:0100326HP:0100326Immunologic hypersensitivity0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100326HP:0100326Immunologic hypersensitivity0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0100326HP:0100326Immunologic hypersensitivity0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0100326HP:0100326Immunologic hypersensitivity0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosis1
HP:0100326HP:0100326Immunologic hypersensitivity0STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0100326HP:0100326Immunologic hypersensitivity0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040282 - Frequent2
HP:0100326HP:0100326Immunologic hypersensitivity0STAT5B CL E G H677711367OMIM:618985GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID212
HP:0100326HP:0100326Immunologic hypersensitivity0STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0100326HP:0100326Immunologic hypersensitivity0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndrome237
HP:0100326HP:0100326Immunologic hypersensitivity0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0100326HP:0100326Immunologic hypersensitivity0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0100326HP:0100326Immunologic hypersensitivity0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0100326HP:0100326Immunologic hypersensitivity0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0100326HP:0100326Immunologic hypersensitivity0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0100326HP:0100326Immunologic hypersensitivity0TBX21 CL E G H3000911599OMIM:208550Asthma, nasal polyps, and aspirin intolerance1
HP:0100326HP:0100326Immunologic hypersensitivity0TBX21 CL E G H3000911599OMIM:619630IMMUNODEFICIENCY 88; IMD881
HP:0100326HP:0100326Immunologic hypersensitivity0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitis241
HP:0100326HP:0100326Immunologic hypersensitivity0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0100326HP:0100326Immunologic hypersensitivity0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosis3
HP:0100326HP:0100326Immunologic hypersensitivity0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0100326HP:0100326Immunologic hypersensitivity0TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0100326HP:0100326Immunologic hypersensitivity0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0100326HP:0100326Immunologic hypersensitivity0TGM5 CL E G H933311781ORPHA:263534Acral peeling skin syndrome44
HP:0100326HP:0100326Immunologic hypersensitivity0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040282 - Frequent3
HP:0100326HP:0100326Immunologic hypersensitivity0TNF CL E G H712411892OMIM:600807Asthma, susceptibility to7
HP:0100326HP:0100326Immunologic hypersensitivity0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitis
HP:0100326HP:0100326Immunologic hypersensitivity0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitis71
HP:0100326HP:0100326Immunologic hypersensitivity0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 92
HP:0100326HP:0100326Immunologic hypersensitivity0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0100326HP:0100326Immunologic hypersensitivity0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040282 - Frequent
HP:0100326HP:0100326Immunologic hypersensitivity0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0100326HP:0100326Immunologic hypersensitivity0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0100326HP:0100326Immunologic hypersensitivity0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0100326HP:0100326Immunologic hypersensitivity0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0100326HP:0100326Immunologic hypersensitivity0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion20
HP:0100326HP:0100326Immunologic hypersensitivity0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0100326HP:0100326Immunologic hypersensitivity0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0100326HP:0100326Immunologic hypersensitivity0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0100326HP:0032439Airborn particle hypersensitivity1 CL E G H
HP:0100326HP:0032378Immediate-type hypersensitivity drug reaction1 CL E G H
HP:0100326HP:0012393Allergy1ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0100326HP:0012393Allergy1ADA CL E G H100186ORPHA:277Severe combined immunodeficiency due to adenosine deaminase deficiencyHP:0040282 - Frequent75
HP:0100326HP:0002099Asthma1ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0100326HP:0002099Asthma1ADRB2 CL E G H154286OMIM:600807Asthma, susceptibility to.5
HP:0100326HP:0002099Asthma1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0100326HP:0002099Asthma1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0100326HP:0002099Asthma1ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0100326HP:0002099Asthma1ALOX5 CL E G H240435OMIM:600807Asthma, susceptibility to.4
HP:0100326HP:0002099Asthma1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0100326HP:0012393Allergy1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0100326HP:0002099Asthma1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040283 - Occasional
HP:0100326HP:0002099Asthma1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0100326HP:0100845Anaphylactic shock1ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent145
HP:0100326HP:0002099Asthma1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0100326HP:0012393Allergy1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0100326HP:0002099Asthma1BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIESHP:0040284 - Very rare3
HP:0100326HP:0002608Celiac disease1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0100326HP:0002099Asthma1C4B CL E G H7211324OMIM:614379Complement component 4B deficiency1
HP:0100326HP:0012393Allergy1CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0100326HP:0002099Asthma1CARD10 CL E G H2977516422OMIM:619632IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD895
HP:0100326HP:0002099Asthma1CARD11 CL E G H8443316393OMIM:617638Immunodeficiency 11B with atopic dermatitis.45
HP:0100326HP:0002099Asthma1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0100326HP:0012393Allergy1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0100326HP:0002099Asthma1CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0100326HP:0100845Anaphylactic shock1CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent317
HP:0100326HP:0012393Allergy1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0100326HP:0002099Asthma1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0100326HP:0002099Asthma1CCL11 CL E G H635610610OMIM:600807Asthma, susceptibility to.2
HP:0100326HP:0002099Asthma1CDC42BPB CL E G H95781738OMIM:619841
HP:0100326HP:0002099Asthma1CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0100326HP:0002099Asthma1CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0100326HP:0012393Allergy1CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0100326HP:0002099Asthma1CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 1.7
HP:0100326HP:0002099Asthma1CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0100326HP:0002099Asthma1CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0100326HP:0002099Asthma1CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0100326HP:0002099Asthma1CFTR CL E G H10801884OMIM:219700Cystic fibrosis.1371
HP:0100326HP:0012393Allergy1CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeHP:0040282 - Frequent2
HP:0100326HP:0002099Asthma1CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0100326HP:0002099Asthma1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0100326HP:0002099Asthma1COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0100326HP:0012393Allergy1COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis13
HP:0100326HP:0002099Asthma1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040284 - Very rare291
HP:0100326HP:0002099Asthma1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040284 - Very rare291
HP:0100326HP:0012393Allergy1CSTA CL E G H14752481ORPHA:263534Acral peeling skin syndromeHP:0040282 - Frequent4
HP:0100326HP:0012393Allergy1CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0100326HP:0002099Asthma1DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0100326HP:0002099Asthma1DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to.23
HP:0100326HP:0002099Asthma1DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0100326HP:0002099Asthma1DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0100326HP:0002099Asthma1DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiencyHP:0040281 - Very frequent217
HP:0100326HP:0012393Allergy1DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive217
HP:0100326HP:0002099Asthma1DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive.217
HP:0100326HP:0002099Asthma1EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0100326HP:0002608Celiac disease1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0100326HP:0002099Asthma1ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardationHP:0040283 - Occasional62
HP:0100326HP:0002099Asthma1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0100326HP:0002099Asthma1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0100326HP:0002099Asthma1FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis.6
HP:0100326HP:0002099Asthma1FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0100326HP:0002099Asthma1FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0100326HP:0002099Asthma1FLG CL E G H23123748OMIM:146700ICHTHYOSIS VULGARIS63
HP:0100326HP:0002099Asthma1FOCAD CL E G H5491423377OMIM:6199913
HP:0100326HP:0012393Allergy1FOCAD CL E G H5491423377OMIM:6199913
HP:0100326HP:0002099Asthma1FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0100326HP:0012393Allergy1FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040283 - Occasional184
HP:0100326HP:0012393Allergy1FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040282 - Frequent32
HP:0100326HP:0012393Allergy1FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0100326HP:0002099Asthma1GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0100326HP:0002099Asthma1GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0100326HP:0002099Asthma1GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0100326HP:0002099Asthma1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0100326HP:0002099Asthma1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0100326HP:0002099Asthma1GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndromeHP:0040284 - Very rare23
HP:0100326HP:0002099Asthma1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0100326HP:0002099Asthma1GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndromeHP:0040284 - Very rare8
HP:0100326HP:0002099Asthma1GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndromeHP:0040284 - Very rare21
HP:0100326HP:0002608Celiac disease1GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0100326HP:0002099Asthma1GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndromeHP:0040283 - Occasional33
HP:0100326HP:0002099Asthma1GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0100326HP:0002099Asthma1HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0100326HP:0002099Asthma1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0100326HP:0002608Celiac disease1HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0100326HP:0002608Celiac disease1HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0100326HP:0002099Asthma1HLA-G CL E G H31354964OMIM:600807Asthma, susceptibility to.
HP:0100326HP:0002099Asthma1HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0100326HP:0002099Asthma1HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0100326HP:0002099Asthma1HNMT CL E G H31765028OMIM:600807Asthma, susceptibility to.3
HP:0100326HP:0002099Asthma1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0100326HP:0002099Asthma1IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0100326HP:0002099Asthma1IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0100326HP:0002099Asthma1IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0100326HP:0012393Allergy1IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0100326HP:0002608Celiac disease1IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0100326HP:0012393Allergy1IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0100326HP:0002608Celiac disease1IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0100326HP:0002099Asthma1IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0100326HP:0002608Celiac disease1IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0100326HP:0002608Celiac disease1IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional46
HP:0100326HP:0002099Asthma1IL13 CL E G H35965973OMIM:600807Asthma, susceptibility to.2
HP:0100326HP:0002099Asthma1IL4R CL E G H35666015OMIM:147050Ige responsiveness, atopic.3
HP:0100326HP:0012393Allergy1IL4R CL E G H35666015OMIM:147050Ige responsiveness, atopic3
HP:0100326HP:0012393Allergy1IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0100326HP:0002099Asthma1IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0100326HP:0012393Allergy1IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0100326HP:0002099Asthma1IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0100326HP:0002608Celiac disease1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0100326HP:0002099Asthma1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0100326HP:0012393Allergy1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0100326HP:0002608Celiac disease1IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional4
HP:0100326HP:0002608Celiac disease1IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0100326HP:0002099Asthma1JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0100326HP:0012393Allergy1JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0100326HP:0002099Asthma1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0100326HP:0002099Asthma1KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0100326HP:0100845Anaphylactic shock1KIT CL E G H38156342ORPHA:79455Cutaneous mastocytoma327
HP:0100326HP:0012393Allergy1KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0100326HP:0002099Asthma1LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040282 - Frequent144
HP:0100326HP:0002099Asthma1LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0100326HP:0002099Asthma1LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent165
HP:0100326HP:0002099Asthma1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0100326HP:0002608Celiac disease1MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0100326HP:0002099Asthma1MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0100326HP:0002099Asthma1MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0100326HP:0002608Celiac disease1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0100326HP:0002608Celiac disease1MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0100326HP:0012393Allergy1MS4A2 CL E G H22067316OMIM:147050Ige responsiveness, atopic1
HP:0100326HP:0002099Asthma1MS4A2 CL E G H22067316OMIM:147050Ige responsiveness, atopic.1
HP:0100326HP:0002608Celiac disease1MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0100326HP:0012393Allergy1MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040284 - Very rare68
HP:0100326HP:0002099Asthma1MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0100326HP:0002099Asthma1MUC7 CL E G H45897518OMIM:600807Asthma, susceptibility to.1
HP:0100326HP:0002099Asthma1NEK9 CL E G H9175418591OMIM:614262Arthrogryposis, perthes disease, and upward gaze palsy.9
HP:0100326HP:0002099Asthma1NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0100326HP:0002099Asthma1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040284 - Very rare51
HP:0100326HP:0002099Asthma1NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distressHP:0040283 - Occasional51
HP:0100326HP:0002099Asthma1NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0100326HP:0002099Asthma1NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0100326HP:0002099Asthma1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0100326HP:0002099Asthma1ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30.
HP:0100326HP:0002608Celiac disease1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0100326HP:0002099Asthma1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0100326HP:0002099Asthma1PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0100326HP:0002099Asthma1PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0100326HP:0002099Asthma1PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0100326HP:0012393Allergy1PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0100326HP:0002099Asthma1PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0100326HP:0012393Allergy1PGM3 CL E G H52388907ORPHA:443811PGM3-CDG15
HP:0100326HP:0002099Asthma1PLA2G7 CL E G H79419040OMIM:600807Asthma, susceptibility to.5
HP:0100326HP:0002099Asthma1PLA2G7 CL E G H79419040OMIM:147050Ige responsiveness, atopic.5
HP:0100326HP:0012393Allergy1PLA2G7 CL E G H79419040OMIM:147050Ige responsiveness, atopic5
HP:0100326HP:0002099Asthma1PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional3
HP:0100326HP:0012393Allergy1PLCG2 CL E G H53369066OMIM:614468FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS321
HP:0100326HP:0002099Asthma1PLCG2 CL E G H53369066OMIM:614468FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS321
HP:0100326HP:0002608Celiac disease1POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0100326HP:0012393Allergy1PSTPIP1 CL E G H90519580OMIM:604416Pyogenic sterile arthritis, pyoderma gangrenosum, and acne96
HP:0100326HP:0002099Asthma1PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0100326HP:0002099Asthma1PTGER2 CL E G H57329594OMIM:208550Asthma, nasal polyps, and aspirin intolerance.1
HP:0100326HP:0012393Allergy1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0100326HP:0002099Asthma1RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0100326HP:0002099Asthma1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0100326HP:0100845Anaphylactic shock1RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent181
HP:0100326HP:0002608Celiac disease1SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040283 - Occasional34
HP:0100326HP:0002099Asthma1SCGB3A2 CL E G H11715618391OMIM:600807Asthma, susceptibility to.1
HP:0100326HP:0002099Asthma1SCN4A CL E G H632910591ORPHA:99735Myotonia permanensHP:0040283 - Occasional263
HP:0100326HP:0002099Asthma1SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040283 - Occasional129
HP:0100326HP:0002099Asthma1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0100326HP:0002608Celiac disease1SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0100326HP:0002099Asthma1SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0100326HP:0002099Asthma1SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0100326HP:0002099Asthma1SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0100326HP:0012393Allergy1SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0100326HP:0002099Asthma1SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0100326HP:0002099Asthma1SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0100326HP:0002099Asthma1SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0100326HP:0002099Asthma1SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0100326HP:0012393Allergy1SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0100326HP:0002099Asthma1SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0100326HP:0002099Asthma1SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0100326HP:0002608Celiac disease1SOCS1 CL E G H865119383OMIM:619375AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD6
HP:0100326HP:0012393Allergy1SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0100326HP:0002608Celiac disease1SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0100326HP:0002099Asthma1SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040281 - Very frequent100
HP:0100326HP:0002099Asthma1SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome.100
HP:0100326HP:0012393Allergy1SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome100
HP:0100326HP:0012393Allergy1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100326HP:0002608Celiac disease1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040284 - Very rare138
HP:0100326HP:0002608Celiac disease1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome.138
HP:0100326HP:0100845Anaphylactic shock1SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent1
HP:0100326HP:0002608Celiac disease1STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0100326HP:0002608Celiac disease1STAT5B CL E G H677711367OMIM:618985GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID212
HP:0100326HP:0002099Asthma1STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0100326HP:0002099Asthma1STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent237
HP:0100326HP:0002099Asthma1SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0100326HP:0002099Asthma1TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0100326HP:0002099Asthma1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0100326HP:0002099Asthma1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0100326HP:0002099Asthma1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0100326HP:0002099Asthma1TBX21 CL E G H3000911599OMIM:208550Asthma, nasal polyps, and aspirin intolerance.1
HP:0100326HP:0002099Asthma1TBX21 CL E G H3000911599OMIM:619630IMMUNODEFICIENCY 88; IMD881
HP:0100326HP:0002608Celiac disease1TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0100326HP:0002099Asthma1TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0100326HP:0100845Anaphylactic shock1TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent3
HP:0100326HP:0002099Asthma1TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis.13
HP:0100326HP:0002099Asthma1TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0100326HP:0002099Asthma1TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0100326HP:0012393Allergy1TGM5 CL E G H933311781ORPHA:263534Acral peeling skin syndromeHP:0040282 - Frequent44
HP:0100326HP:0002099Asthma1TNF CL E G H712411892OMIM:600807Asthma, susceptibility to.7
HP:0100326HP:0002608Celiac disease1TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0100326HP:0002608Celiac disease1TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional71
HP:0100326HP:0002099Asthma1TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 9HP:0040283 - Occasional2
HP:0100326HP:0002099Asthma1TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0100326HP:0002099Asthma1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0100326HP:0002099Asthma1UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0100326HP:0002099Asthma1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0100326HP:0002099Asthma1VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0100326HP:0002608Celiac disease1WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0100326HP:0002099Asthma1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0100326HP:0002099Asthma1ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0100326HP:0002099Asthma1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0100326HP:0500094Latex allergy2 CL E G H
HP:0100326HP:0410326Feather allergy2 CL E G H
HP:0100326HP:0012395Seasonal allergy2 CL E G H
HP:0100326HP:0410149Drug-induced anaphylaxis2 CL E G H
HP:0100326HP:0012394Iodine contrast allergy2 CL E G H
HP:0100326HP:0410148Idiopathic anaphylaxis2 CL E G H
HP:0100326HP:0410338Plant product allergy2 CL E G H
HP:0100326HP:0410324Dust mite allergy2 CL E G H
HP:0100326HP:0007879Allergic conjunctivitis2 CL E G H
HP:0100326HP:0410139Exercise induced anaphylaxis2 CL E G H
HP:0100326HP:0410337Parasite allergy2 CL E G H
HP:0100326HP:0410322Bacteria allergy2 CL E G H
HP:0100326HP:0500096Venom-induced anaphylaxis2 CL E G H
HP:0100326HP:0410335Insect allergy2 CL E G H
HP:0100326HP:0410320Animal protein allergy2 CL E G H
HP:0100326HP:0500095Food-induced anaphylaxis2 CL E G H
HP:0100326HP:0012652Exercise-induced asthma2 CL E G H
HP:0100326HP:0410334Fungi allergy2 CL E G H
HP:0100326HP:0410319Alpha-gal allergy2 CL E G H
HP:0100326HP:0500093Food allergy2ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0100326HP:0500093Food allergy2CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0100326HP:0003193Allergic rhinitis2CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0100326HP:0003193Allergic rhinitis2CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0100326HP:0003193Allergic rhinitis2COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0100326HP:0500093Food allergy2DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive217
HP:0100326HP:0500093Food allergy2FOCAD CL E G H5491423377OMIM:6199913
HP:0100326HP:0012653Status asthmaticus2FOCAD CL E G H5491423377OMIM:6199913
HP:0100326HP:0500093Food allergy2FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0100326HP:0500093Food allergy2IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0100326HP:0003193Allergic rhinitis2IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0100326HP:0500093Food allergy2IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0100326HP:0003193Allergic rhinitis2IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0100326HP:0003193Allergic rhinitis2IL4R CL E G H35666015OMIM:147050Ige responsiveness, atopic.3
HP:0100326HP:0500093Food allergy2IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0100326HP:0500093Food allergy2IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0100326HP:0410323Drug allergy2IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0100326HP:0500093Food allergy2JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0100326HP:0003193Allergic rhinitis2KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0100326HP:0003193Allergic rhinitis2MS4A2 CL E G H22067316OMIM:147050Ige responsiveness, atopic.1
HP:0100326HP:0410323Drug allergy2PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0100326HP:0500093Food allergy2PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0100326HP:0003193Allergic rhinitis2PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0100326HP:0003193Allergic rhinitis2PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0100326HP:0003193Allergic rhinitis2PLA2G7 CL E G H79419040OMIM:147050Ige responsiveness, atopic.5
HP:0100326HP:0003193Allergic rhinitis2PLCG2 CL E G H53369066OMIM:614468FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS321
HP:0100326HP:0012042Aspirin-induced asthma2PTGER2 CL E G H57329594OMIM:208550Asthma, nasal polyps, and aspirin intolerance.1
HP:0100326HP:0500093Food allergy2RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0100326HP:0003193Allergic rhinitis2SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0100326HP:0500093Food allergy2SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0100326HP:0003193Allergic rhinitis2SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0100326HP:0500093Food allergy2SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0100326HP:0003193Allergic rhinitis2SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome.100
HP:0100326HP:0500093Food allergy2SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome.100
HP:0100326HP:0500093Food allergy2SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100326HP:0012042Aspirin-induced asthma2TBX21 CL E G H3000911599OMIM:208550Asthma, nasal polyps, and aspirin intolerance.1
HP:0100326HP:0410333Seafood allergy3 CL E G H
HP:0100326HP:0410339Insect bite allergy3 CL E G H
HP:0100326HP:0410325House dust mite allergy3 CL E G H
HP:0100326HP:0410332Plant based food allergy3 CL E G H
HP:0100326HP:0410330Meat allergen allergy3 CL E G H
HP:0100326HP:0410336Venom allergy3 CL E G H
HP:0100326HP:0410321Animal dander allergy3 CL E G H
HP:0100326HP:0410329Gluten allergy3 CL E G H
HP:0100326HP:0410328Egg allergy3 CL E G H
HP:0100326HP:0410327Dairy allergy3FOCAD CL E G H5491423377OMIM:6199913
HP:0100326HP:0410327Dairy allergy3RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0100326HP:0410331Nut food product allergy4 CL E G H
HP:0100326HP:0100327Cow milk allergy4FOCAD CL E G H5491423377OMIM:6199913
HP:0100326HP:0100327Cow milk allergy4RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10


Genes (193) :ABCC9 ADA ADRB2 AFF4 ALG9 ALMS1 ALOX5 ARL6 ARSL ARVCF ASXL1 BBS1 BCL11B BICRA C4A C4B CAMK2B CARD10 CARD11 CARMIL2 CASP8 CBL CCDC28B CCL11 CCR1 CDC42BPB CDH3 CDKN1C CDON CDSN CEACAM3 CEACAM6 CFTR CHD1 CLCA4 COMT COX4I2 CREBBP CSTA CTLA4 DCTN4 DDX41 DISP1 DLL1 DNASE1L3 DOCK8 EDNRA ELN ELOVL4 EP300 ERAP1 ERCC2 FAS FCGR2A FGF8 FGFR1 FLG FOCAD FOXH1 FOXP1 FOXP3 GAS1 GCLC GLI2 GNB1 GNB2 GP1BA GP1BB GP9 GPR35 GRHL2 GSTM3 HFE HIRA HLA-B HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-G HMGA2 HMOX1 HNMT IDS IFNGR1 IFT172 IGF2 IGHG2 IGKC IL10 IL12A IL12A-AS1 IL12RB1 IL13 IL23R IL4R IL6ST IPO8 IRF5 IVNS1ABP JAK1 JMJD1C KCNN4 KIT KLRC4 KRT74 LIFR LIG4 LMX1B LRBA MED12 MEFV MIA3 MIF MLXIPL MMEL1 MS4A2 MST1 MTOR MUC7 NEK9 NFKB2 NKX2-1 NOD2 NODAL NSUN2 ODAD3 ODC1 PEPD PEX5 PGM3 PLA2G7 PLAG1 PLCG2 POU2AF1 PSTPIP1 PTCH1 PTGER2 RBM8A RIC1 RREB1 RUNX1 SATB2 SCGB3A2 SCN4A SDHD SEC24C SEMA4D SERPINA1 SHH SIK3 SIX3 SLC11A1 SLC26A9 SLC27A4 SLC6A14 SLC9A3 SOCS1 SOX6 SPIB SPINK5 SPTBN1 SRCAP SRSF2 STAT3 STAT4 STAT5B STX1A STXBP1 SUFU TALDO1 TBCK TBX1 TBX21 TCF4 TDGF1 TET2 TGFB1 TGIF1 TGM5 TLR4 TNF TNFSF15 TNPO3 TRAIP TTC26 UBAC2 UFD1 UNC45A USP7 VPS51 WAC ZIC2 ZNF699

Diseases (115) :OMIM:619719 ORPHA:277 OMIM:102700 OMIM:600807 ORPHA:444077 ORPHA:79328 OMIM:203800 OMIM:209900 ORPHA:79345 ORPHA:567 ORPHA:98850 OMIM:618092 OMIM:619325 ORPHA:117 OMIM:614379 OMIM:617799 OMIM:619632 OMIM:617638 OMIM:618131 OMIM:607271 OMIM:619841 ORPHA:1573 ORPHA:397590 ORPHA:280200 ORPHA:90368 OMIM:270300 ORPHA:586 OMIM:219700 ORPHA:529965 OMIM:612714 ORPHA:353281 ORPHA:353277 ORPHA:263534 OMIM:616100 OMIM:616871 ORPHA:36412 ORPHA:217390 OMIM:243700 OMIM:194050 OMIM:614457 ORPHA:353284 OMIM:601675 OMIM:146700 OMIM:619991 ORPHA:391372 ORPHA:37042 OMIM:304790 OMIM:616973 OMIM:619503 ORPHA:274 ORPHA:171 OMIM:616029 ORPHA:133 OMIM:212750 OMIM:309900 OMIM:619471 ORPHA:183675 ORPHA:186 OMIM:147050 OMIM:619752 OMIM:618523 OMIM:619750 OMIM:619472 OMIM:618969 OMIM:618999 ORPHA:79455 ORPHA:3206 ORPHA:235 ORPHA:495818 OMIM:614700 OMIM:301068 OMIM:619269 ORPHA:457485 OMIM:614262 OMIM:615577 ORPHA:209905 OMIM:610978 OMIM:617321 OMIM:616037 ORPHA:544488 OMIM:170100 OMIM:616716 OMIM:615816 ORPHA:443811 OMIM:614468 OMIM:604416 OMIM:208550 OMIM:274000 OMIM:618761 ORPHA:576283 ORPHA:99735 ORPHA:100093 OMIM:618162 OMIM:608649 OMIM:619375 OMIM:618971 OMIM:256500 ORPHA:634 OMIM:619475 ORPHA:2044 OMIM:136140 OMIM:615952 OMIM:618985 OMIM:606003 ORPHA:488632 OMIM:188400 OMIM:619630 OMIM:616777 OMIM:619534 OMIM:619377 ORPHA:500055 OMIM:618606 ORPHA:284169 ORPHA:466950 OMIM:619488
 

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