Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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:
Recurrent respiratory infections (HP:0002205)

Parent Node:
Pneumonia (HP:0002090)

Parent Node:
Recurrent lower respiratory tract infections (HP:0002783)

..Starting node
..Recurrent pneumonia (HP:0006532)

Term ID:

6532

Name:

Recurrent pneumonia

Synonym:

Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections

Definition:

An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.

Comments:

Reference:

HP:0006532

Genes and Diseases:

Child Nodes:

Sister Nodes:

Recurrent upper and lower respiratory tract infections (HP:0200117)

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:0006532	HP:0006532	Recurrent pneumonia	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0006532	HP:0006532	Recurrent pneumonia	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0006532	HP:0006532	Recurrent pneumonia	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:0006532	HP:0006532	Recurrent pneumonia	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0006532	HP:0006532	Recurrent pneumonia	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0006532	HP:0006532	Recurrent pneumonia	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0006532	HP:0006532	Recurrent pneumonia	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0006532	HP:0006532	Recurrent pneumonia	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0006532	HP:0006532	Recurrent pneumonia	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0006532	HP:0006532	Recurrent pneumonia	0	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.	4
HP:0006532	HP:0006532	Recurrent pneumonia	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0006532	HP:0006532	Recurrent pneumonia	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0006532	HP:0006532	Recurrent pneumonia	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0006532	HP:0006532	Recurrent pneumonia	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0006532	HP:0006532	Recurrent pneumonia	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0006532	HP:0006532	Recurrent pneumonia	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0006532	HP:0006532	Recurrent pneumonia	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0006532	HP:0006532	Recurrent pneumonia	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0006532	HP:0006532	Recurrent pneumonia	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.	38
HP:0006532	HP:0006532	Recurrent pneumonia	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0006532	HP:0006532	Recurrent pneumonia	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0006532	HP:0006532	Recurrent pneumonia	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0006532	HP:0006532	Recurrent pneumonia	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0006532	HP:0006532	Recurrent pneumonia	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0006532	HP:0006532	Recurrent pneumonia	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0006532	HP:0006532	Recurrent pneumonia	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0006532	HP:0006532	Recurrent pneumonia	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0006532	HP:0006532	Recurrent pneumonia	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0006532	HP:0006532	Recurrent pneumonia	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0006532	HP:0006532	Recurrent pneumonia	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.	10
HP:0006532	HP:0006532	Recurrent pneumonia	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040282 - Frequent	9
HP:0006532	HP:0006532	Recurrent pneumonia	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0006532	HP:0006532	Recurrent pneumonia	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0006532	HP:0006532	Recurrent pneumonia	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0006532	HP:0006532	Recurrent pneumonia	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0006532	HP:0006532	Recurrent pneumonia	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0006532	HP:0006532	Recurrent pneumonia	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0006532	HP:0006532	Recurrent pneumonia	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0006532	HP:0006532	Recurrent pneumonia	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0006532	HP:0006532	Recurrent pneumonia	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0006532	HP:0006532	Recurrent pneumonia	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0006532	HP:0006532	Recurrent pneumonia	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0006532	HP:0006532	Recurrent pneumonia	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0006532	HP:0006532	Recurrent pneumonia	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0006532	HP:0006532	Recurrent pneumonia	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0006532	HP:0006532	Recurrent pneumonia	0	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0006532	HP:0006532	Recurrent pneumonia	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0006532	HP:0006532	Recurrent pneumonia	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0006532	HP:0006532	Recurrent pneumonia	0	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria	.	55
HP:0006532	HP:0006532	Recurrent pneumonia	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0006532	HP:0006532	Recurrent pneumonia	0	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0006532	HP:0006532	Recurrent pneumonia	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0006532	HP:0006532	Recurrent pneumonia	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0006532	HP:0006532	Recurrent pneumonia	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0006532	HP:0006532	Recurrent pneumonia	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0006532	HP:0006532	Recurrent pneumonia	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0006532	HP:0006532	Recurrent pneumonia	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0006532	HP:0006532	Recurrent pneumonia	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0006532	HP:0006532	Recurrent pneumonia	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0006532	HP:0006532	Recurrent pneumonia	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0006532	HP:0006532	Recurrent pneumonia	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0006532	HP:0006532	Recurrent pneumonia	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0006532	HP:0006532	Recurrent pneumonia	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive	.	3
HP:0006532	HP:0006532	Recurrent pneumonia	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0006532	HP:0006532	Recurrent pneumonia	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0006532	HP:0006532	Recurrent pneumonia	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0006532	HP:0006532	Recurrent pneumonia	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0006532	HP:0006532	Recurrent pneumonia	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0006532	HP:0006532	Recurrent pneumonia	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0006532	HP:0006532	Recurrent pneumonia	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0006532	HP:0006532	Recurrent pneumonia	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0006532	HP:0006532	Recurrent pneumonia	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0006532	HP:0006532	Recurrent pneumonia	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0006532	HP:0006532	Recurrent pneumonia	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0006532	HP:0006532	Recurrent pneumonia	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0006532	HP:0006532	Recurrent pneumonia	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0006532	HP:0006532	Recurrent pneumonia	0	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0006532	HP:0006532	Recurrent pneumonia	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0006532	HP:0006532	Recurrent pneumonia	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0006532	HP:0006532	Recurrent pneumonia	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0006532	HP:0006532	Recurrent pneumonia	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0006532	HP:0006532	Recurrent pneumonia	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0006532	HP:0006532	Recurrent pneumonia	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0006532	HP:0006532	Recurrent pneumonia	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0006532	HP:0006532	Recurrent pneumonia	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0006532	HP:0006532	Recurrent pneumonia	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0006532	HP:0006532	Recurrent pneumonia	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0006532	HP:0006532	Recurrent pneumonia	0	NME5 CL E G H	8382	7853	OMIM:620032
HP:0006532	HP:0006532	Recurrent pneumonia	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0006532	HP:0006532	Recurrent pneumonia	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0006532	HP:0006532	Recurrent pneumonia	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0006532	HP:0006532	Recurrent pneumonia	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0006532	HP:0006532	Recurrent pneumonia	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0006532	HP:0006532	Recurrent pneumonia	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0006532	HP:0006532	Recurrent pneumonia	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0006532	HP:0006532	Recurrent pneumonia	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0006532	HP:0006532	Recurrent pneumonia	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0006532	HP:0006532	Recurrent pneumonia	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0006532	HP:0006532	Recurrent pneumonia	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040284 - Very rare	105
HP:0006532	HP:0006532	Recurrent pneumonia	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0006532	HP:0006532	Recurrent pneumonia	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional	53
HP:0006532	HP:0006532	Recurrent pneumonia	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0006532	HP:0006532	Recurrent pneumonia	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0006532	HP:0006532	Recurrent pneumonia	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0006532	HP:0006532	Recurrent pneumonia	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040282 - Frequent	7
HP:0006532	HP:0006532	Recurrent pneumonia	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0006532	HP:0006532	Recurrent pneumonia	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0006532	HP:0006532	Recurrent pneumonia	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0006532	HP:0006532	Recurrent pneumonia	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0006532	HP:0006532	Recurrent pneumonia	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0006532	HP:0006532	Recurrent pneumonia	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0006532	HP:0006532	Recurrent pneumonia	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0006532	HP:0006532	Recurrent pneumonia	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0006532	HP:0006532	Recurrent pneumonia	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	HP:0040283 - Occasional	1
HP:0006532	HP:0006532	Recurrent pneumonia	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0006532	HP:0006532	Recurrent pneumonia	0	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0006532	HP:0006532	Recurrent pneumonia	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040284 - Very rare	16
HP:0006532	HP:0006532	Recurrent pneumonia	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0006532	HP:0006532	Recurrent pneumonia	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0006532	HP:0006532	Recurrent pneumonia	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0006532	HP:0006532	Recurrent pneumonia	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent	103
HP:0006532	HP:0006532	Recurrent pneumonia	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0006532	HP:0006532	Recurrent pneumonia	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0006532	HP:0006532	Recurrent pneumonia	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.	12
HP:0006532	HP:0006532	Recurrent pneumonia	0	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0006532	HP:0006532	Recurrent pneumonia	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0006532	HP:0006532	Recurrent pneumonia	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0006532	HP:0006532	Recurrent pneumonia	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0006532	HP:0006532	Recurrent pneumonia	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0006532	HP:0006532	Recurrent pneumonia	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0006532	HP:0006532	Recurrent pneumonia	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0006532	HP:0006532	Recurrent pneumonia	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional	95
HP:0006532	HP:0006532	Recurrent pneumonia	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0006532	HP:0006532	Recurrent pneumonia	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0006532	HP:0006532	Recurrent pneumonia	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0006532	HP:0033214	Recurrent viral pneumonia	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28

Genes (122) :AASS ADA ALG12 ALMS1 AP3B1 ARPC1B B3GALT6 BLNK BTK C3 C4B CARMIL2 CAVIN1 CCDC39 CCDC40 CD19 CD247 CD27 CD3D CD3E CD79B CFAP410 CFTR CLPB COL11A2 CR2 CXCR4 CYBA CYBB CYBC1 DDR2 DNAH11 DOCK2 DOCK8 DRC1 DZIP1L EFEMP2 EGFR ERCC6 EXTL3 FBLN5 FBXW7 FCGR2A FCHO1 FMO3 GALNS GAS8 GNPTAB HYDIN ICOS IDH1 IDS IFIH1 IGBP1 IGHG2 IGHM IGKC IGLL1 IL21R IL2RG IL6ST JAK3 KCNJ6 KPTN LAT LEP LMNB1 LRBA LTBP1 MASP2 MED25 MTHFD1 NBN NCF1 NCF2 NFKB1 NFKB2 NKX2-1 NME5 ODAD1 ODAD2 ORC6 P4HTM PEPD PGM3 PIK3CD PKHD1 PKP1 PLOD1 POLA1 PURA RAC1 RAC2 RNF168 RNU4ATAC SETBP1 SFTPC SIAH1 SLC35C1 SMARCA2 SMARCD2 SREBF1 STAT3 STK36 TBCD TBX1 TCF3 TGFB1 TK2 TNFRSF11A TNFRSF13B TNFRSF13C TONSL UNC119 USB1 VPS33A WAS WDR1 WDR19 WDR35 ZBTB7A ZNFX1

Diseases (123) :ORPHA:2203 ORPHA:277 OMIM:102700 ORPHA:79324 ORPHA:64 OMIM:203800 OMIM:608233 OMIM:617718 OMIM:609465 OMIM:613502 OMIM:300755 ORPHA:47 OMIM:613779 OMIM:614379 OMIM:618131 OMIM:613327 OMIM:613807 OMIM:613808 OMIM:240500 OMIM:610163 ORPHA:169160 OMIM:615122 OMIM:612692 OMIM:602271 OMIM:219700 OMIM:616271 OMIM:215150 ORPHA:51636 OMIM:233690 OMIM:306400 OMIM:618935 OMIM:271665 OMIM:611884 OMIM:616433 OMIM:243700 OMIM:615294 ORPHA:731 ORPHA:90349 OMIM:616069 OMIM:214150 ORPHA:508533 OMIM:620012 OMIM:619164 OMIM:602079 OMIM:253000 OMIM:616726 OMIM:252500 OMIM:608647 OMIM:607594 ORPHA:99646 OMIM:309900 OMIM:619773 OMIM:300472 ORPHA:183675 OMIM:601495 OMIM:613500 OMIM:615207 OMIM:300400 OMIM:619752 OMIM:619750 ORPHA:35078 ORPHA:435628 ORPHA:397612 OMIM:615637 OMIM:617514 OMIM:614962 OMIM:619179 OMIM:614700 OMIM:613791 ORPHA:464738 OMIM:617780 OMIM:251260 ORPHA:647 OMIM:233700 OMIM:233710 OMIM:616576 ORPHA:293978 OMIM:615577 ORPHA:209905 OMIM:620032 OMIM:615067 OMIM:615451 OMIM:613803 OMIM:618493 OMIM:170100 ORPHA:443811 OMIM:619281 ORPHA:158668 OMIM:225400 ORPHA:1900 OMIM:301220 ORPHA:314655 OMIM:617751 ORPHA:500159 OMIM:618986 ORPHA:420741 OMIM:616651 ORPHA:353298 ORPHA:798 OMIM:610913 OMIM:619314 ORPHA:99843 OMIM:619293 OMIM:617475 OMIM:158310 OMIM:147060 OMIM:619436 ORPHA:496641 OMIM:188400 OMIM:619824 ORPHA:254875 OMIM:612301 OMIM:613494 ORPHA:93357 OMIM:615518 OMIM:604173 OMIM:617303 OMIM:301000 OMIM:150550 OMIM:614378 OMIM:613610 OMIM:619769 OMIM:619644

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen