Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of immune system physiology (HP:0010978)

Parent Node:
Abnormal respiratory system physiology (HP:0002795)

Parent Node:
Immunologic hypersensitivity (HP:0100326)

..Starting node
..Asthma (HP:0002099)

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:

........

Aspirin-induced asthma (HP:0012042)

........

Exercise-induced asthma (HP:0012652)

........

Status asthmaticus (HP:0012653)

Sister Nodes:

Allergy (HP:0012393)

Anaphylactic shock (HP:0100845)

Celiac disease (HP:0002608)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002099	HP:0002099	Asthma	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0002099	HP:0002099	Asthma	0	ADRB2 CL E G H	154	286	OMIM:600807	Asthma, susceptibility to	.	5
HP:0002099	HP:0002099	Asthma	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0002099	HP:0002099	Asthma	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0002099	HP:0002099	Asthma	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0002099	HP:0002099	Asthma	0	ALOX5 CL E G H	240	435	OMIM:600807	Asthma, susceptibility to	.	4
HP:0002099	HP:0002099	Asthma	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.	29
HP:0002099	HP:0002099	Asthma	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0002099	HP:0002099	Asthma	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0002099	HP:0002099	Asthma	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.	114
HP:0002099	HP:0002099	Asthma	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	HP:0040284 - Very rare	3
HP:0002099	HP:0002099	Asthma	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0002099	HP:0002099	Asthma	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0002099	HP:0002099	Asthma	0	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis	.	45
HP:0002099	HP:0002099	Asthma	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002099	HP:0002099	Asthma	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0002099	HP:0002099	Asthma	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.	4
HP:0002099	HP:0002099	Asthma	0	CCL11 CL E G H	6356	10610	OMIM:600807	Asthma, susceptibility to	.	2
HP:0002099	HP:0002099	Asthma	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002099	HP:0002099	Asthma	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0002099	HP:0002099	Asthma	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0002099	HP:0002099	Asthma	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.	7
HP:0002099	HP:0002099	Asthma	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002099	HP:0002099	Asthma	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002099	HP:0002099	Asthma	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.	1371
HP:0002099	HP:0002099	Asthma	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002099	HP:0002099	Asthma	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002099	HP:0002099	Asthma	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0002099	HP:0002099	Asthma	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.	13
HP:0002099	HP:0002099	Asthma	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0002099	HP:0002099	Asthma	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0002099	HP:0002099	Asthma	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002099	HP:0002099	Asthma	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	.	23
HP:0002099	HP:0002099	Asthma	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0002099	HP:0002099	Asthma	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0002099	HP:0002099	Asthma	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0002099	HP:0002099	Asthma	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0002099	HP:0002099	Asthma	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002099	HP:0002099	Asthma	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	HP:0040283 - Occasional	62
HP:0002099	HP:0002099	Asthma	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0002099	HP:0002099	Asthma	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0002099	HP:0002099	Asthma	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.	6
HP:0002099	HP:0002099	Asthma	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0002099	HP:0002099	Asthma	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0002099	HP:0002099	Asthma	0	FLG CL E G H	2312	3748	OMIM:146700	ICHTHYOSIS VULGARIS		63
HP:0002099	HP:0002099	Asthma	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002099	HP:0002099	Asthma	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0002099	HP:0002099	Asthma	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0002099	HP:0002099	Asthma	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002099	HP:0002099	Asthma	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0002099	HP:0002099	Asthma	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0002099	HP:0002099	Asthma	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002099	HP:0002099	Asthma	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040284 - Very rare	23
HP:0002099	HP:0002099	Asthma	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0002099	HP:0002099	Asthma	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040284 - Very rare	8
HP:0002099	HP:0002099	Asthma	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040284 - Very rare	21
HP:0002099	HP:0002099	Asthma	0	GRHL2 CL E G H	79977	2799	OMIM:616029	Ectodermal dysplasia/short stature syndrome	HP:0040283 - Occasional	33
HP:0002099	HP:0002099	Asthma	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002099	HP:0002099	Asthma	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002099	HP:0002099	Asthma	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0002099	HP:0002099	Asthma	0	HLA-G CL E G H	3135	4964	OMIM:600807	Asthma, susceptibility to	.
HP:0002099	HP:0002099	Asthma	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0002099	HP:0002099	Asthma	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002099	HP:0002099	Asthma	0	HNMT CL E G H	3176	5028	OMIM:600807	Asthma, susceptibility to	.	3
HP:0002099	HP:0002099	Asthma	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0002099	HP:0002099	Asthma	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0002099	HP:0002099	Asthma	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0002099	HP:0002099	Asthma	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0002099	HP:0002099	Asthma	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0002099	HP:0002099	Asthma	0	IL13 CL E G H	3596	5973	OMIM:600807	Asthma, susceptibility to	.	2
HP:0002099	HP:0002099	Asthma	0	IL4R CL E G H	3566	6015	OMIM:147050	Ige responsiveness, atopic	.	3
HP:0002099	HP:0002099	Asthma	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002099	HP:0002099	Asthma	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002099	HP:0002099	Asthma	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002099	HP:0002099	Asthma	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0002099	HP:0002099	Asthma	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0002099	HP:0002099	Asthma	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002099	HP:0002099	Asthma	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent	144
HP:0002099	HP:0002099	Asthma	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0002099	HP:0002099	Asthma	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	165
HP:0002099	HP:0002099	Asthma	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002099	HP:0002099	Asthma	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0002099	HP:0002099	Asthma	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002099	HP:0002099	Asthma	0	MS4A2 CL E G H	2206	7316	OMIM:147050	Ige responsiveness, atopic	.	1
HP:0002099	HP:0002099	Asthma	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0002099	HP:0002099	Asthma	0	MUC7 CL E G H	4589	7518	OMIM:600807	Asthma, susceptibility to	.	1
HP:0002099	HP:0002099	Asthma	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.	9
HP:0002099	HP:0002099	Asthma	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002099	HP:0002099	Asthma	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0002099	HP:0002099	Asthma	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	HP:0040283 - Occasional	51
HP:0002099	HP:0002099	Asthma	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0002099	HP:0002099	Asthma	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0002099	HP:0002099	Asthma	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0002099	HP:0002099	Asthma	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0002099	HP:0002099	Asthma	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0002099	HP:0002099	Asthma	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0002099	HP:0002099	Asthma	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0002099	HP:0002099	Asthma	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0002099	HP:0002099	Asthma	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0002099	HP:0002099	Asthma	0	PLA2G7 CL E G H	7941	9040	OMIM:600807	Asthma, susceptibility to	.	5
HP:0002099	HP:0002099	Asthma	0	PLA2G7 CL E G H	7941	9040	OMIM:147050	Ige responsiveness, atopic	.	5
HP:0002099	HP:0002099	Asthma	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0002099	HP:0002099	Asthma	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0002099	HP:0002099	Asthma	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0002099	HP:0002099	Asthma	0	PTGER2 CL E G H	5732	9594	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.	1
HP:0002099	HP:0002099	Asthma	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0002099	HP:0002099	Asthma	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002099	HP:0002099	Asthma	0	SCGB3A2 CL E G H	117156	18391	OMIM:600807	Asthma, susceptibility to	.	1
HP:0002099	HP:0002099	Asthma	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional	263
HP:0002099	HP:0002099	Asthma	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040283 - Occasional	129
HP:0002099	HP:0002099	Asthma	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002099	HP:0002099	Asthma	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002099	HP:0002099	Asthma	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0002099	HP:0002099	Asthma	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0002099	HP:0002099	Asthma	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0002099	HP:0002099	Asthma	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002099	HP:0002099	Asthma	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002099	HP:0002099	Asthma	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0002099	HP:0002099	Asthma	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002099	HP:0002099	Asthma	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002099	HP:0002099	Asthma	0	SPINK5 CL E G H	11005	15464	ORPHA:634	Netherton syndrome	HP:0040281 - Very frequent	100
HP:0002099	HP:0002099	Asthma	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0002099	HP:0002099	Asthma	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002099	HP:0002099	Asthma	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	237
HP:0002099	HP:0002099	Asthma	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0002099	HP:0002099	Asthma	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0002099	HP:0002099	Asthma	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0002099	HP:0002099	Asthma	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0002099	HP:0002099	Asthma	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0002099	HP:0002099	Asthma	0	TBX21 CL E G H	30009	11599	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.	1
HP:0002099	HP:0002099	Asthma	0	TBX21 CL E G H	30009	11599	OMIM:619630	IMMUNODEFICIENCY 88; IMD88		1
HP:0002099	HP:0002099	Asthma	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0002099	HP:0002099	Asthma	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.	13
HP:0002099	HP:0002099	Asthma	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002099	HP:0002099	Asthma	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0002099	HP:0002099	Asthma	0	TNF CL E G H	7124	11892	OMIM:600807	Asthma, susceptibility to	.	7
HP:0002099	HP:0002099	Asthma	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	HP:0040283 - Occasional	2
HP:0002099	HP:0002099	Asthma	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002099	HP:0002099	Asthma	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002099	HP:0002099	Asthma	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002099	HP:0002099	Asthma	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0002099	HP:0002099	Asthma	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002099	HP:0002099	Asthma	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0002099	HP:0002099	Asthma	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0002099	HP:0002099	Asthma	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002099	HP:0012652	Exercise-induced asthma	1	CL E G H
HP:0002099	HP:0012653	Status asthmaticus	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002099	HP:0012042	Aspirin-induced asthma	1	PTGER2 CL E G H	5732	9594	OMIM:208550	Asthma, nasal polyps, and aspirin intolerance	.	1
HP:0002099	HP:0012042	Aspirin-induced asthma	1	TBX21 CL E G H	30009	11599	OMIM:208550	Asthma, 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.

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