Human Phenotype Ontology 
Grandparent Node:
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Abnormality of immune system physiology (HP:0010978)help
Parent Node:
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Abnormal respiratory system physiology (HP:0002795)help
Parent Node:
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Immunologic hypersensitivity (HP:0100326)help
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Asthma (HP:0002099)help
Term ID: 2099
Name: Asthma
Synonym: Asthma; Bronchial asthma; Reactive airway disease
Definition: Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Comments:
Reference: HP:0002099
Genes and Diseases:
 
       Child Nodes:
........expandAspirin-induced asthma (HP:0012042) help
........expandExercise-induced asthma (HP:0012652) help
........expandStatus asthmaticus (HP:0012653) help

 Sister Nodes: 
..expandAllergy (HP:0012393) help
..expandAnaphylactic shock (HP:0100845) help
..expandCeliac disease (HP:0002608) 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:0002099HP:0002099Asthma0ADA 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:0002099HP:0002099Asthma0ADRB2 CL E G H154286OMIM:600807Asthma, susceptibility to.5
HP:0002099HP:0002099Asthma0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0002099HP:0002099Asthma0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0002099HP:0002099Asthma0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0002099HP:0002099Asthma0ALOX5 CL E G H240435OMIM:600807Asthma, susceptibility to.4
HP:0002099HP:0002099Asthma0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0002099HP:0002099Asthma0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040283 - Occasional
HP:0002099HP:0002099Asthma0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0002099HP:0002099Asthma0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0002099HP:0002099Asthma0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIESHP:0040284 - Very rare3
HP:0002099HP:0002099Asthma0C4B CL E G H7211324OMIM:614379Complement component 4B deficiency1
HP:0002099HP:0002099Asthma0CARD10 CL E G H2977516422OMIM:619632IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD895
HP:0002099HP:0002099Asthma0CARD11 CL E G H8443316393OMIM:617638Immunodeficiency 11B with atopic dermatitis.45
HP:0002099HP:0002099Asthma0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0002099HP:0002099Asthma0CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0002099HP:0002099Asthma0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0002099HP:0002099Asthma0CCL11 CL E G H635610610OMIM:600807Asthma, susceptibility to.2
HP:0002099HP:0002099Asthma0CDC42BPB CL E G H95781738OMIM:619841
HP:0002099HP:0002099Asthma0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0002099HP:0002099Asthma0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0002099HP:0002099Asthma0CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 1.7
HP:0002099HP:0002099Asthma0CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0002099HP:0002099Asthma0CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0002099HP:0002099Asthma0CFTR CL E G H10801884OMIM:219700Cystic fibrosis.1371
HP:0002099HP:0002099Asthma0CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0002099HP:0002099Asthma0CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0002099HP:0002099Asthma0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0002099HP:0002099Asthma0COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0002099HP:0002099Asthma0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040284 - Very rare291
HP:0002099HP:0002099Asthma0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040284 - Very rare291
HP:0002099HP:0002099Asthma0DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0002099HP:0002099Asthma0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to.23
HP:0002099HP:0002099Asthma0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0002099HP:0002099Asthma0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0002099HP:0002099Asthma0DOCK8 CL E G H8170419191ORPHA:217390Combined immunodeficiency due to DOCK8 deficiencyHP:0040281 - Very frequent217
HP:0002099HP:0002099Asthma0DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive.217
HP:0002099HP:0002099Asthma0EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0002099HP:0002099Asthma0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardationHP:0040283 - Occasional62
HP:0002099HP:0002099Asthma0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040284 - Very rare250
HP:0002099HP:0002099Asthma0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0002099HP:0002099Asthma0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis.6
HP:0002099HP:0002099Asthma0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0002099HP:0002099Asthma0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0002099HP:0002099Asthma0FLG CL E G H23123748OMIM:146700ICHTHYOSIS VULGARIS63
HP:0002099HP:0002099Asthma0FOCAD CL E G H5491423377OMIM:6199913
HP:0002099HP:0002099Asthma0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0002099HP:0002099Asthma0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0002099HP:0002099Asthma0GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0002099HP:0002099Asthma0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0002099HP:0002099Asthma0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0002099HP:0002099Asthma0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002099HP:0002099Asthma0GP1BA CL E G H28114439ORPHA:274Bernard-Soulier syndromeHP:0040284 - Very rare23
HP:0002099HP:0002099Asthma0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0002099HP:0002099Asthma0GP1BB CL E G H28124440ORPHA:274Bernard-Soulier syndromeHP:0040284 - Very rare8
HP:0002099HP:0002099Asthma0GP9 CL E G H28154444ORPHA:274Bernard-Soulier syndromeHP:0040284 - Very rare21
HP:0002099HP:0002099Asthma0GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndromeHP:0040283 - Occasional33
HP:0002099HP:0002099Asthma0GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0002099HP:0002099Asthma0HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0002099HP:0002099Asthma0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0002099HP:0002099Asthma0HLA-G CL E G H31354964OMIM:600807Asthma, susceptibility to.
HP:0002099HP:0002099Asthma0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0002099HP:0002099Asthma0HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0002099HP:0002099Asthma0HNMT CL E G H31765028OMIM:600807Asthma, susceptibility to.3
HP:0002099HP:0002099Asthma0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0002099HP:0002099Asthma0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0002099HP:0002099Asthma0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0002099HP:0002099Asthma0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0002099HP:0002099Asthma0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0002099HP:0002099Asthma0IL13 CL E G H35965973OMIM:600807Asthma, susceptibility to.2
HP:0002099HP:0002099Asthma0IL4R CL E G H35666015OMIM:147050Ige responsiveness, atopic.3
HP:0002099HP:0002099Asthma0IL6ST CL E G H35726021OMIM:619752HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002099HP:0002099Asthma0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002099HP:0002099Asthma0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0002099HP:0002099Asthma0JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0002099HP:0002099Asthma0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0002099HP:0002099Asthma0KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0002099HP:0002099Asthma0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040282 - Frequent144
HP:0002099HP:0002099Asthma0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0002099HP:0002099Asthma0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent165
HP:0002099HP:0002099Asthma0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0002099HP:0002099Asthma0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0002099HP:0002099Asthma0MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0002099HP:0002099Asthma0MS4A2 CL E G H22067316OMIM:147050Ige responsiveness, atopic.1
HP:0002099HP:0002099Asthma0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0002099HP:0002099Asthma0MUC7 CL E G H45897518OMIM:600807Asthma, susceptibility to.1
HP:0002099HP:0002099Asthma0NEK9 CL E G H9175418591OMIM:614262Arthrogryposis, perthes disease, and upward gaze palsy.9
HP:0002099HP:0002099Asthma0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0002099HP:0002099Asthma0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040284 - Very rare51
HP:0002099HP:0002099Asthma0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distressHP:0040283 - Occasional51
HP:0002099HP:0002099Asthma0NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0002099HP:0002099Asthma0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0002099HP:0002099Asthma0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0002099HP:0002099Asthma0ODAD3 CL E G H11594828303OMIM:616037Ciliary dyskinesia, primary, 30.
HP:0002099HP:0002099Asthma0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0002099HP:0002099Asthma0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0002099HP:0002099Asthma0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0002099HP:0002099Asthma0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0002099HP:0002099Asthma0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0002099HP:0002099Asthma0PLA2G7 CL E G H79419040OMIM:600807Asthma, susceptibility to.5
HP:0002099HP:0002099Asthma0PLA2G7 CL E G H79419040OMIM:147050Ige responsiveness, atopic.5
HP:0002099HP:0002099Asthma0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional3
HP:0002099HP:0002099Asthma0PLCG2 CL E G H53369066OMIM:614468FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS321
HP:0002099HP:0002099Asthma0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0002099HP:0002099Asthma0PTGER2 CL E G H57329594OMIM:208550Asthma, nasal polyps, and aspirin intolerance.1
HP:0002099HP:0002099Asthma0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0002099HP:0002099Asthma0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0002099HP:0002099Asthma0SCGB3A2 CL E G H11715618391OMIM:600807Asthma, susceptibility to.1
HP:0002099HP:0002099Asthma0SCN4A CL E G H632910591ORPHA:99735Myotonia permanensHP:0040283 - Occasional263
HP:0002099HP:0002099Asthma0SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040283 - Occasional129
HP:0002099HP:0002099Asthma0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0002099HP:0002099Asthma0SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0002099HP:0002099Asthma0SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0002099HP:0002099Asthma0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0002099HP:0002099Asthma0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0002099HP:0002099Asthma0SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0002099HP:0002099Asthma0SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0002099HP:0002099Asthma0SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0002099HP:0002099Asthma0SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0002099HP:0002099Asthma0SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0002099HP:0002099Asthma0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040281 - Very frequent100
HP:0002099HP:0002099Asthma0SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome.100
HP:0002099HP:0002099Asthma0STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0002099HP:0002099Asthma0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent237
HP:0002099HP:0002099Asthma0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0002099HP:0002099Asthma0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0002099HP:0002099Asthma0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0002099HP:0002099Asthma0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0002099HP:0002099Asthma0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0002099HP:0002099Asthma0TBX21 CL E G H3000911599OMIM:208550Asthma, nasal polyps, and aspirin intolerance.1
HP:0002099HP:0002099Asthma0TBX21 CL E G H3000911599OMIM:619630IMMUNODEFICIENCY 88; IMD881
HP:0002099HP:0002099Asthma0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0002099HP:0002099Asthma0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis.13
HP:0002099HP:0002099Asthma0TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0002099HP:0002099Asthma0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0002099HP:0002099Asthma0TNF CL E G H712411892OMIM:600807Asthma, susceptibility to.7
HP:0002099HP:0002099Asthma0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 9HP:0040283 - Occasional2
HP:0002099HP:0002099Asthma0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002099HP:0002099Asthma0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0002099HP:0002099Asthma0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002099HP:0002099Asthma0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0002099HP:0002099Asthma0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002099HP:0002099Asthma0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0002099HP:0002099Asthma0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0002099HP:0002099Asthma0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0002099HP:0012652Exercise-induced asthma1 CL E G H
HP:0002099HP:0012653Status asthmaticus1FOCAD CL E G H5491423377OMIM:6199913
HP:0002099HP:0012042Aspirin-induced asthma1PTGER2 CL E G H57329594OMIM:208550Asthma, nasal polyps, and aspirin intolerance.1
HP:0002099HP:0012042Aspirin-induced asthma1TBX21 CL E G H3000911599OMIM:208550Asthma, nasal polyps, and aspirin intolerance.1


Genes (133) :ADA ADRB2 AFF4 ALG9 ALMS1 ALOX5 ARL6 ARSL ARVCF BBS1 BCL11B C4B CARD10 CARD11 CARMIL2 CASP8 CCDC28B CCL11 CDC42BPB CDKN1C CDON CDSN CEACAM3 CEACAM6 CFTR CLCA4 COMT COX4I2 CREBBP DCTN4 DDX41 DISP1 DLL1 DOCK8 EDNRA ELOVL4 EP300 ERCC2 FCGR2A FGF8 FGFR1 FLG FOCAD FOXH1 GAS1 GCLC GLI2 GNB1 GNB2 GP1BA GP1BB GP9 GRHL2 GSTM3 HFE HIRA HLA-G HMGA2 HMOX1 HNMT IDS IFT172 IGF2 IGHG2 IGKC IL13 IL4R IL6ST IPO8 JAK1 JMJD1C KCNN4 LIFR LIG4 LMX1B LRBA MIA3 MIF MS4A2 MTOR MUC7 NEK9 NFKB2 NKX2-1 NOD2 NODAL NSUN2 ODAD3 ODC1 PEPD PEX5 PGM3 PLA2G7 PLAG1 PLCG2 PTCH1 PTGER2 RIC1 RREB1 SCGB3A2 SCN4A SDHD SEC24C SERPINA1 SHH SIK3 SIX3 SLC11A1 SLC26A9 SLC27A4 SLC6A14 SLC9A3 SPINK5 STX1A STXBP1 SUFU TALDO1 TBCK TBX1 TBX21 TDGF1 TGFB1 TGIF1 TNF TRAIP TTC26 UFD1 UNC45A USP7 VPS51 WAC ZIC2 ZNF699

Diseases (80) :OMIM:102700 OMIM:600807 ORPHA:444077 ORPHA:79328 OMIM:203800 OMIM:209900 ORPHA:79345 ORPHA:567 OMIM:618092 OMIM:614379 OMIM:619632 OMIM:617638 OMIM:618131 OMIM:607271 OMIM:619841 ORPHA:397590 ORPHA:280200 OMIM:270300 ORPHA:586 OMIM:219700 OMIM:612714 ORPHA:353281 ORPHA:353277 OMIM:616871 ORPHA:217390 OMIM:243700 OMIM:614457 ORPHA:353284 OMIM:601675 OMIM:146700 OMIM:619991 OMIM:616973 OMIM:619503 ORPHA:274 OMIM:616029 OMIM:309900 OMIM:619471 ORPHA:183675 OMIM:147050 OMIM:619752 OMIM:619750 OMIM:619472 OMIM:618999 ORPHA:3206 ORPHA:235 ORPHA:495818 OMIM:614700 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:208550 OMIM:618761 ORPHA:99735 ORPHA:100093 OMIM:618162 OMIM:608649 ORPHA:634 OMIM:256500 OMIM:606003 ORPHA:488632 OMIM:188400 OMIM:619630 OMIM:616777 OMIM:619534 OMIM:619377 ORPHA:500055 OMIM:618606 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.