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:
Abnormal lung morphology (HP:0002088)

Parent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Respiratory tract infection (HP:0011947)

..Starting node
..Pneumonia (HP:0002090)

Term ID:

2090

Name:

Pneumonia

Synonym:

Pneumonia

Definition:

Inflammation of any part of the lung parenchyma.

Comments:

Reference:

HP:0002090

Genes and Diseases:

Child Nodes:

........

Recurrent pneumonia (HP:0006532)

........

Aspiration pneumonia (HP:0011951)

................... HP:0002100 Recurrent aspiration pneumonia
................... HP:0011952 Acute aspiration pneumonia

Sister Nodes:

Bronchitis (HP:0012387)

Recurrent acute respiratory tract infection (HP:0011948)

Recurrent respiratory infections (HP:0002205)

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:0002090	HP:0002090	Pneumonia	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0002090	HP:0002090	Pneumonia	0	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040283 - Occasional	147
HP:0002090	HP:0002090	Pneumonia	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0002090	HP:0002090	Pneumonia	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040284 - Very rare	16
HP:0002090	HP:0002090	Pneumonia	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation	.	16
HP:0002090	HP:0002090	Pneumonia	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0002090	HP:0002090	Pneumonia	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent	96
HP:0002090	HP:0002090	Pneumonia	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	208
HP:0002090	HP:0002090	Pneumonia	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	75
HP:0002090	HP:0002090	Pneumonia	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency		75
HP:0002090	HP:0002090	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:0002090	HP:0002090	Pneumonia	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0002090	HP:0002090	Pneumonia	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0002090	HP:0002090	Pneumonia	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0002090	HP:0002090	Pneumonia	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0002090	HP:0002090	Pneumonia	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0002090	HP:0002090	Pneumonia	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002090	HP:0002090	Pneumonia	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0002090	HP:0002090	Pneumonia	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0002090	HP:0002090	Pneumonia	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0002090	HP:0002090	Pneumonia	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002090	HP:0002090	Pneumonia	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0002090	HP:0002090	Pneumonia	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome		78
HP:0002090	HP:0002090	Pneumonia	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0002090	HP:0002090	Pneumonia	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0002090	HP:0002090	Pneumonia	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0002090	HP:0002090	Pneumonia	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0002090	HP:0002090	Pneumonia	0	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive		4
HP:0002090	HP:0002090	Pneumonia	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0002090	HP:0002090	Pneumonia	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	.	109
HP:0002090	HP:0002090	Pneumonia	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0002090	HP:0002090	Pneumonia	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0002090	HP:0002090	Pneumonia	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0002090	HP:0002090	Pneumonia	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional	572
HP:0002090	HP:0002090	Pneumonia	0	CARD11 CL E G H	84433	16393	OMIM:617638	Immunodeficiency 11B with atopic dermatitis	.	45
HP:0002090	HP:0002090	Pneumonia	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002090	HP:0002090	Pneumonia	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0002090	HP:0002090	Pneumonia	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0002090	HP:0002090	Pneumonia	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0002090	HP:0002090	Pneumonia	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0002090	HP:0002090	Pneumonia	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	38
HP:0002090	HP:0002090	Pneumonia	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2		38
HP:0002090	HP:0002090	Pneumonia	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0002090	HP:0002090	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:0002090	HP:0002090	Pneumonia	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0002090	HP:0002090	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:0002090	HP:0002090	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:0002090	HP:0002090	Pneumonia	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0002090	HP:0002090	Pneumonia	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive		6
HP:0002090	HP:0002090	Pneumonia	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002090	HP:0002090	Pneumonia	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0002090	HP:0002090	Pneumonia	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0002090	HP:0002090	Pneumonia	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0002090	HP:0002090	Pneumonia	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0002090	HP:0002090	Pneumonia	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0002090	HP:0002090	Pneumonia	0	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD		30
HP:0002090	HP:0002090	Pneumonia	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002090	HP:0002090	Pneumonia	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis		1371
HP:0002090	HP:0002090	Pneumonia	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	515
HP:0002090	HP:0002090	Pneumonia	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	5
HP:0002090	HP:0002090	Pneumonia	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0002090	HP:0002090	Pneumonia	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0002090	HP:0002090	Pneumonia	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0002090	HP:0002090	Pneumonia	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		678
HP:0002090	HP:0002090	Pneumonia	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		18
HP:0002090	HP:0002090	Pneumonia	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0002090	HP:0002090	Pneumonia	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2		10
HP:0002090	HP:0002090	Pneumonia	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0002090	HP:0002090	Pneumonia	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0002090	HP:0002090	Pneumonia	0	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia		24
HP:0002090	HP:0002090	Pneumonia	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis		15
HP:0002090	HP:0002090	Pneumonia	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis		17
HP:0002090	HP:0002090	Pneumonia	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0002090	HP:0002090	Pneumonia	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040282 - Frequent	9
HP:0002090	HP:0002090	Pneumonia	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0002090	HP:0002090	Pneumonia	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0002090	HP:0002090	Pneumonia	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002090	HP:0002090	Pneumonia	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0002090	HP:0002090	Pneumonia	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0002090	HP:0002090	Pneumonia	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94
HP:0002090	HP:0002090	Pneumonia	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0002090	HP:0002090	Pneumonia	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0002090	HP:0002090	Pneumonia	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0002090	HP:0002090	Pneumonia	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0002090	HP:0002090	Pneumonia	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0002090	HP:0002090	Pneumonia	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0002090	HP:0002090	Pneumonia	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0002090	HP:0002090	Pneumonia	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0002090	HP:0002090	Pneumonia	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0002090	HP:0002090	Pneumonia	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0002090	HP:0002090	Pneumonia	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0002090	HP:0002090	Pneumonia	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0002090	HP:0002090	Pneumonia	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	5
HP:0002090	HP:0002090	Pneumonia	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0002090	HP:0002090	Pneumonia	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002090	HP:0002090	Pneumonia	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0002090	HP:0002090	Pneumonia	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0002090	HP:0002090	Pneumonia	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002090	HP:0002090	Pneumonia	0	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0002090	HP:0002090	Pneumonia	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0002090	HP:0002090	Pneumonia	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0002090	HP:0002090	Pneumonia	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	1
HP:0002090	HP:0002090	Pneumonia	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2		257
HP:0002090	HP:0002090	Pneumonia	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0002090	HP:0002090	Pneumonia	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0002090	HP:0002090	Pneumonia	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease		83
HP:0002090	HP:0002090	Pneumonia	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0002090	HP:0002090	Pneumonia	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0002090	HP:0002090	Pneumonia	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0002090	HP:0002090	Pneumonia	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0002090	HP:0002090	Pneumonia	0	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0002090	HP:0002090	Pneumonia	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002090	HP:0002090	Pneumonia	0	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040282 - Frequent	5
HP:0002090	HP:0002090	Pneumonia	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002090	HP:0002090	Pneumonia	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0002090	HP:0002090	Pneumonia	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0002090	HP:0002090	Pneumonia	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0002090	HP:0002090	Pneumonia	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0002090	HP:0002090	Pneumonia	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0002090	HP:0002090	Pneumonia	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0002090	HP:0002090	Pneumonia	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0002090	HP:0002090	Pneumonia	0	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria		55
HP:0002090	HP:0002090	Pneumonia	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002090	HP:0002090	Pneumonia	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0002090	HP:0002090	Pneumonia	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0002090	HP:0002090	Pneumonia	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0002090	HP:0002090	Pneumonia	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0002090	HP:0002090	Pneumonia	0	FOXN1 CL E G H	8456	12765	OMIM:618806	T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND		54
HP:0002090	HP:0002090	Pneumonia	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040284 - Very rare	32
HP:0002090	HP:0002090	Pneumonia	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0002090	HP:0002090	Pneumonia	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0002090	HP:0002090	Pneumonia	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0002090	HP:0002090	Pneumonia	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0002090	HP:0002090	Pneumonia	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0002090	HP:0002090	Pneumonia	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0002090	HP:0002090	Pneumonia	0	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0002090	HP:0002090	Pneumonia	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	87
HP:0002090	HP:0002090	Pneumonia	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	37
HP:0002090	HP:0002090	Pneumonia	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0002090	HP:0002090	Pneumonia	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0002090	HP:0002090	Pneumonia	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002090	HP:0002090	Pneumonia	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0002090	HP:0002090	Pneumonia	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0002090	HP:0002090	Pneumonia	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0002090	HP:0002090	Pneumonia	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0002090	HP:0002090	Pneumonia	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0002090	HP:0002090	Pneumonia	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0002090	HP:0002090	Pneumonia	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum		12
HP:0002090	HP:0002090	Pneumonia	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0002090	HP:0002090	Pneumonia	0	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia
HP:0002090	HP:0002090	Pneumonia	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia
HP:0002090	HP:0002090	Pneumonia	0	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0002090	HP:0002090	Pneumonia	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0002090	HP:0002090	Pneumonia	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0002090	HP:0002090	Pneumonia	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002090	HP:0002090	Pneumonia	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0002090	HP:0002090	Pneumonia	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0002090	HP:0002090	Pneumonia	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002090	HP:0002090	Pneumonia	0	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0002090	HP:0002090	Pneumonia	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0002090	HP:0002090	Pneumonia	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0002090	HP:0002090	Pneumonia	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0002090	HP:0002090	Pneumonia	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0002090	HP:0002090	Pneumonia	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0002090	HP:0002090	Pneumonia	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive		3
HP:0002090	HP:0002090	Pneumonia	0	IL12RB1 CL E G H	3594	5971	ORPHA:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	HP:0040283 - Occasional	46
HP:0002090	HP:0002090	Pneumonia	0	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002090	HP:0002090	Pneumonia	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0002090	HP:0002090	Pneumonia	0	IL2RG CL E G H	3561	6010	OMIM:312863	Combined immunodeficiency, X-linked	.	48
HP:0002090	HP:0002090	Pneumonia	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	48
HP:0002090	HP:0002090	Pneumonia	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked	.	48
HP:0002090	HP:0002090	Pneumonia	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040281 - Very frequent	48
HP:0002090	HP:0002090	Pneumonia	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002090	HP:0002090	Pneumonia	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002090	HP:0002090	Pneumonia	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	94
HP:0002090	HP:0002090	Pneumonia	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	.	94
HP:0002090	HP:0002090	Pneumonia	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	4
HP:0002090	HP:0002090	Pneumonia	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B	.	5
HP:0002090	HP:0002090	Pneumonia	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0002090	HP:0002090	Pneumonia	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0002090	HP:0002090	Pneumonia	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0002090	HP:0002090	Pneumonia	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002090	HP:0002090	Pneumonia	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0002090	HP:0002090	Pneumonia	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0002090	HP:0002090	Pneumonia	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0002090	HP:0002090	Pneumonia	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0002090	HP:0002090	Pneumonia	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0002090	HP:0002090	Pneumonia	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0002090	HP:0002090	Pneumonia	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome		13
HP:0002090	HP:0002090	Pneumonia	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0002090	HP:0002090	Pneumonia	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0002090	HP:0002090	Pneumonia	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0002090	HP:0002090	Pneumonia	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0002090	HP:0002090	Pneumonia	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0002090	HP:0002090	Pneumonia	0	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction		47
HP:0002090	HP:0002090	Pneumonia	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	88
HP:0002090	HP:0002090	Pneumonia	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0002090	HP:0002090	Pneumonia	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0002090	HP:0002090	Pneumonia	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		8
HP:0002090	HP:0002090	Pneumonia	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002090	HP:0002090	Pneumonia	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0002090	HP:0002090	Pneumonia	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0002090	HP:0002090	Pneumonia	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.	12
HP:0002090	HP:0002090	Pneumonia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0002090	HP:0002090	Pneumonia	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent	136
HP:0002090	HP:0002090	Pneumonia	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0002090	HP:0002090	Pneumonia	0	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0002090	HP:0002090	Pneumonia	0	MCIDAS CL E G H	345643	40050	OMIM:618695	CILIARY DYSKINESIA, PRIMARY, 42; CILD42		13
HP:0002090	HP:0002090	Pneumonia	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0002090	HP:0002090	Pneumonia	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0002090	HP:0002090	Pneumonia	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002090	HP:0002090	Pneumonia	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0002090	HP:0002090	Pneumonia	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0002090	HP:0002090	Pneumonia	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	452
HP:0002090	HP:0002090	Pneumonia	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0002090	HP:0002090	Pneumonia	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002090	HP:0002090	Pneumonia	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0002090	HP:0002090	Pneumonia	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0002090	HP:0002090	Pneumonia	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0002090	HP:0002090	Pneumonia	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0002090	HP:0002090	Pneumonia	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0002090	HP:0002090	Pneumonia	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0002090	HP:0002090	Pneumonia	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002090	HP:0002090	Pneumonia	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	7
HP:0002090	HP:0002090	Pneumonia	0	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0002090	HP:0002090	Pneumonia	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	11
HP:0002090	HP:0002090	Pneumonia	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0002090	HP:0002090	Pneumonia	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002090	HP:0002090	Pneumonia	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease		77
HP:0002090	HP:0002090	Pneumonia	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0002090	HP:0002090	Pneumonia	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0002090	HP:0002090	Pneumonia	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	90
HP:0002090	HP:0002090	Pneumonia	0	NME5 CL E G H	8382	7853	OMIM:620032
HP:0002090	HP:0002090	Pneumonia	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0002090	HP:0002090	Pneumonia	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0002090	HP:0002090	Pneumonia	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0002090	HP:0002090	Pneumonia	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0002090	HP:0002090	Pneumonia	0	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia		2
HP:0002090	HP:0002090	Pneumonia	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002090	HP:0002090	Pneumonia	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0002090	HP:0002090	Pneumonia	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0002090	HP:0002090	Pneumonia	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002090	HP:0002090	Pneumonia	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0002090	HP:0002090	Pneumonia	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0002090	HP:0002090	Pneumonia	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040283 - Occasional	73
HP:0002090	HP:0002090	Pneumonia	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002090	HP:0002090	Pneumonia	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0002090	HP:0002090	Pneumonia	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration		55
HP:0002090	HP:0002090	Pneumonia	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		88
HP:0002090	HP:0002090	Pneumonia	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0002090	HP:0002090	Pneumonia	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0002090	HP:0002090	Pneumonia	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0002090	HP:0002090	Pneumonia	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0002090	HP:0002090	Pneumonia	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0002090	HP:0002090	Pneumonia	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002090	HP:0002090	Pneumonia	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0002090	HP:0002090	Pneumonia	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0002090	HP:0002090	Pneumonia	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0002090	HP:0002090	Pneumonia	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0002090	HP:0002090	Pneumonia	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0002090	HP:0002090	Pneumonia	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0002090	HP:0002090	Pneumonia	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0002090	HP:0002090	Pneumonia	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0002090	HP:0002090	Pneumonia	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0002090	HP:0002090	Pneumonia	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0002090	HP:0002090	Pneumonia	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002090	HP:0002090	Pneumonia	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	10
HP:0002090	HP:0002090	Pneumonia	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002090	HP:0002090	Pneumonia	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0002090	HP:0002090	Pneumonia	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0002090	HP:0002090	Pneumonia	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0002090	HP:0002090	Pneumonia	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0002090	HP:0002090	Pneumonia	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		53
HP:0002090	HP:0002090	Pneumonia	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002090	HP:0002090	Pneumonia	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0002090	HP:0002090	Pneumonia	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002090	HP:0002090	Pneumonia	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	127
HP:0002090	HP:0002090	Pneumonia	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0002090	HP:0002090	Pneumonia	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	127
HP:0002090	HP:0002090	Pneumonia	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	50
HP:0002090	HP:0002090	Pneumonia	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0002090	HP:0002090	Pneumonia	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	50
HP:0002090	HP:0002090	Pneumonia	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.	57
HP:0002090	HP:0002090	Pneumonia	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0002090	HP:0002090	Pneumonia	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent	37
HP:0002090	HP:0002090	Pneumonia	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0002090	HP:0002090	Pneumonia	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040282 - Frequent	7
HP:0002090	HP:0002090	Pneumonia	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0002090	HP:0002090	Pneumonia	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0002090	HP:0002090	Pneumonia	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0002090	HP:0002090	Pneumonia	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0002090	HP:0002090	Pneumonia	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional	26
HP:0002090	HP:0002090	Pneumonia	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis		67
HP:0002090	HP:0002090	Pneumonia	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis		61
HP:0002090	HP:0002090	Pneumonia	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis		57
HP:0002090	HP:0002090	Pneumonia	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0002090	HP:0002090	Pneumonia	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0002090	HP:0002090	Pneumonia	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent	144
HP:0002090	HP:0002090	Pneumonia	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0002090	HP:0002090	Pneumonia	0	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040283 - Occasional	51
HP:0002090	HP:0002090	Pneumonia	0	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040283 - Occasional	33
HP:0002090	HP:0002090	Pneumonia	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0002090	HP:0002090	Pneumonia	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.	83
HP:0002090	HP:0002090	Pneumonia	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0002090	HP:0002090	Pneumonia	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0002090	HP:0002090	Pneumonia	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0002090	HP:0002090	Pneumonia	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0002090	HP:0002090	Pneumonia	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0002090	HP:0002090	Pneumonia	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0002090	HP:0002090	Pneumonia	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0002090	HP:0002090	Pneumonia	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0002090	HP:0002090	Pneumonia	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0002090	HP:0002090	Pneumonia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0002090	HP:0002090	Pneumonia	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent	24
HP:0002090	HP:0002090	Pneumonia	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.	71
HP:0002090	HP:0002090	Pneumonia	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0002090	HP:0002090	Pneumonia	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002090	HP:0002090	Pneumonia	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0002090	HP:0002090	Pneumonia	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0002090	HP:0002090	Pneumonia	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0002090	HP:0002090	Pneumonia	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002090	HP:0002090	Pneumonia	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0002090	HP:0002090	Pneumonia	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0002090	HP:0002090	Pneumonia	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0002090	HP:0002090	Pneumonia	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0002090	HP:0002090	Pneumonia	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0002090	HP:0002090	Pneumonia	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002090	HP:0002090	Pneumonia	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0002090	HP:0002090	Pneumonia	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0002090	HP:0002090	Pneumonia	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0002090	HP:0002090	Pneumonia	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0002090	HP:0002090	Pneumonia	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0002090	HP:0002090	Pneumonia	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0002090	HP:0002090	Pneumonia	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0002090	HP:0002090	Pneumonia	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0002090	HP:0002090	Pneumonia	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0002090	HP:0002090	Pneumonia	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0002090	HP:0002090	Pneumonia	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0002090	HP:0002090	Pneumonia	0	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0002090	HP:0002090	Pneumonia	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002090	HP:0002090	Pneumonia	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism		21
HP:0002090	HP:0002090	Pneumonia	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0002090	HP:0002090	Pneumonia	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0002090	HP:0002090	Pneumonia	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0002090	HP:0002090	Pneumonia	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	20
HP:0002090	HP:0002090	Pneumonia	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0002090	HP:0002090	Pneumonia	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0002090	HP:0002090	Pneumonia	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0002090	HP:0002090	Pneumonia	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0002090	HP:0002090	Pneumonia	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0002090	HP:0002090	Pneumonia	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0002090	HP:0002090	Pneumonia	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type		18
HP:0002090	HP:0002090	Pneumonia	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002090	HP:0002090	Pneumonia	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0002090	HP:0002090	Pneumonia	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0002090	HP:0002090	Pneumonia	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0002090	HP:0002090	Pneumonia	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0002090	HP:0002090	Pneumonia	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0002090	HP:0002090	Pneumonia	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form		103
HP:0002090	HP:0002090	Pneumonia	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	6
HP:0002090	HP:0002090	Pneumonia	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0002090	HP:0002090	Pneumonia	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	32
HP:0002090	HP:0002090	Pneumonia	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2		32
HP:0002090	HP:0002090	Pneumonia	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	12
HP:0002090	HP:0002090	Pneumonia	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2		12
HP:0002090	HP:0002090	Pneumonia	0	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0002090	HP:0002090	Pneumonia	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040281 - Very frequent	1
HP:0002090	HP:0002090	Pneumonia	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0002090	HP:0002090	Pneumonia	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0002090	HP:0002090	Pneumonia	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0002090	HP:0002090	Pneumonia	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0002090	HP:0002090	Pneumonia	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0002090	HP:0002090	Pneumonia	0	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002090	HP:0002090	Pneumonia	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0002090	HP:0002090	Pneumonia	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0002090	HP:0002090	Pneumonia	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002090	HP:0002090	Pneumonia	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002090	HP:0002090	Pneumonia	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0002090	HP:0002090	Pneumonia	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0002090	HP:0002090	Pneumonia	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0002090	HP:0002090	Pneumonia	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT	.	46
HP:0002090	HP:0002090	Pneumonia	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0002090	HP:0002090	Pneumonia	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002090	HP:0002090	Pneumonia	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0002090	HP:0002090	Pneumonia	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0002090	HP:0002090	Pneumonia	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0002090	HP:0002090	Pneumonia	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0002090	HP:0002090	Pneumonia	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002090	HP:0002090	Pneumonia	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002090	HP:0006532	Recurrent pneumonia	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0002090	HP:0011951	Aspiration pneumonia	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0002090	HP:0006532	Recurrent pneumonia	1	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0002090	HP:0006532	Recurrent pneumonia	1	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:0002090	HP:0011951	Aspiration pneumonia	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0002090	HP:0011951	Aspiration pneumonia	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040282 - Frequent	6
HP:0002090	HP:0006532	Recurrent pneumonia	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0002090	HP:0006532	Recurrent pneumonia	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent	404
HP:0002090	HP:0006532	Recurrent pneumonia	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0002090	HP:0006532	Recurrent pneumonia	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002090	HP:0011951	Aspiration pneumonia	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0002090	HP:0011951	Aspiration pneumonia	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0002090	HP:0011951	Aspiration pneumonia	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0002090	HP:0006532	Recurrent pneumonia	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002090	HP:0011951	Aspiration pneumonia	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome		78
HP:0002090	HP:0011951	Aspiration pneumonia	1	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0002090	HP:0011951	Aspiration pneumonia	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0002090	HP:0006532	Recurrent pneumonia	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0002090	HP:0006532	Recurrent pneumonia	1	BLNK CL E G H	29760	14211	OMIM:613502	Agammaglobulinemia 4, autosomal recessive	.	4
HP:0002090	HP:0006532	Recurrent pneumonia	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002090	HP:0006532	Recurrent pneumonia	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0002090	HP:0006532	Recurrent pneumonia	1	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive		92
HP:0002090	HP:0006532	Recurrent pneumonia	1	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0002090	HP:0006532	Recurrent pneumonia	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002090	HP:0006532	Recurrent pneumonia	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0002090	HP:0006532	Recurrent pneumonia	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0002090	HP:0006532	Recurrent pneumonia	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0002090	HP:0006532	Recurrent pneumonia	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.	38
HP:0002090	HP:0006532	Recurrent pneumonia	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0002090	HP:0006532	Recurrent pneumonia	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0002090	HP:0006532	Recurrent pneumonia	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0002090	HP:0006532	Recurrent pneumonia	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0002090	HP:0006532	Recurrent pneumonia	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0002090	HP:0006532	Recurrent pneumonia	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0002090	HP:0011951	Aspiration pneumonia	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0002090	HP:0011951	Aspiration pneumonia	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0002090	HP:0011951	Aspiration pneumonia	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0002090	HP:0011951	Aspiration pneumonia	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0002090	HP:0006532	Recurrent pneumonia	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0002090	HP:0006532	Recurrent pneumonia	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002090	HP:0011949	Acute infectious pneumonia	1	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	1371
HP:0002090	HP:0006532	Recurrent pneumonia	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0002090	HP:0006532	Recurrent pneumonia	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0002090	HP:0011951	Aspiration pneumonia	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	678
HP:0002090	HP:0011951	Aspiration pneumonia	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	18
HP:0002090	HP:0006532	Recurrent pneumonia	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.	10
HP:0002090	HP:0011951	Aspiration pneumonia	1	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia		24
HP:0002090	HP:0011949	Acute infectious pneumonia	1	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional	15
HP:0002090	HP:0011949	Acute infectious pneumonia	1	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional	17
HP:0002090	HP:0011951	Aspiration pneumonia	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0002090	HP:0006532	Recurrent pneumonia	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040282 - Frequent	9
HP:0002090	HP:0006532	Recurrent pneumonia	1	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0002090	HP:0006532	Recurrent pneumonia	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0002090	HP:0006532	Recurrent pneumonia	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002090	HP:0006532	Recurrent pneumonia	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0002090	HP:0011951	Aspiration pneumonia	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0002090	HP:0011951	Aspiration pneumonia	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0002090	HP:0011951	Aspiration pneumonia	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0002090	HP:0011951	Aspiration pneumonia	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0002090	HP:0011951	Aspiration pneumonia	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0002090	HP:0011951	Aspiration pneumonia	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0002090	HP:0011951	Aspiration pneumonia	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0002090	HP:0011951	Aspiration pneumonia	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0002090	HP:0006532	Recurrent pneumonia	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7		542
HP:0002090	HP:0006532	Recurrent pneumonia	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002090	HP:0006532	Recurrent pneumonia	1	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive		217
HP:0002090	HP:0011951	Aspiration pneumonia	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002090	HP:0006532	Recurrent pneumonia	1	DRC1 CL E G H	92749	24245	OMIM:615294	CILIARY DYSKINESIA, PRIMARY, 21; CILD21		44
HP:0002090	HP:0006532	Recurrent pneumonia	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0002090	HP:0006532	Recurrent pneumonia	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0002090	HP:0006532	Recurrent pneumonia	1	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0002090	HP:0011951	Aspiration pneumonia	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease		83
HP:0002090	HP:0006532	Recurrent pneumonia	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0002090	HP:0006532	Recurrent pneumonia	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002090	HP:0006532	Recurrent pneumonia	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0002090	HP:0006532	Recurrent pneumonia	1	FBXW7 CL E G H	55294	16712	OMIM:620012			22
HP:0002090	HP:0006532	Recurrent pneumonia	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002090	HP:0006532	Recurrent pneumonia	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002090	HP:0011951	Aspiration pneumonia	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0002090	HP:0011951	Aspiration pneumonia	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0002090	HP:0011951	Aspiration pneumonia	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0002090	HP:0011951	Aspiration pneumonia	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0002090	HP:0011951	Aspiration pneumonia	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0002090	HP:0011951	Aspiration pneumonia	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0002090	HP:0011951	Aspiration pneumonia	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0002090	HP:0006532	Recurrent pneumonia	1	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria	.	55
HP:0002090	HP:0011951	Aspiration pneumonia	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0002090	HP:0011951	Aspiration pneumonia	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0002090	HP:0011951	Aspiration pneumonia	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0002090	HP:0011951	Aspiration pneumonia	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0002090	HP:0006532	Recurrent pneumonia	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A		123
HP:0002090	HP:0011951	Aspiration pneumonia	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0002090	HP:0011951	Aspiration pneumonia	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0002090	HP:0011951	Aspiration pneumonia	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0002090	HP:0011951	Aspiration pneumonia	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0002090	HP:0006532	Recurrent pneumonia	1	GAS8 CL E G H	2622	4166	OMIM:616726	Ciliary dyskinesia, primary, 33		9
HP:0002090	HP:0011951	Aspiration pneumonia	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0002090	HP:0011951	Aspiration pneumonia	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002090	HP:0011951	Aspiration pneumonia	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040282 - Frequent	120
HP:0002090	HP:0011951	Aspiration pneumonia	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0002090	HP:0011951	Aspiration pneumonia	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0002090	HP:0011951	Aspiration pneumonia	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0002090	HP:0011951	Aspiration pneumonia	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0002090	HP:0006532	Recurrent pneumonia	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0002090	HP:0011951	Aspiration pneumonia	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040283 - Occasional	12
HP:0002090	HP:0011951	Aspiration pneumonia	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0002090	HP:0011951	Aspiration pneumonia	1	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia
HP:0002090	HP:0011951	Aspiration pneumonia	1	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia
HP:0002090	HP:0006532	Recurrent pneumonia	1	HYDIN CL E G H	54768	19368	OMIM:608647	Ciliary dyskinesia, primary, 5		21
HP:0002090	HP:0006532	Recurrent pneumonia	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0002090	HP:0006532	Recurrent pneumonia	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0002090	HP:0006532	Recurrent pneumonia	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0002090	HP:0006532	Recurrent pneumonia	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0002090	HP:0006532	Recurrent pneumonia	1	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0002090	HP:0006532	Recurrent pneumonia	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0002090	HP:0011951	Aspiration pneumonia	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0002090	HP:0006532	Recurrent pneumonia	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		1
HP:0002090	HP:0006532	Recurrent pneumonia	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0002090	HP:0006532	Recurrent pneumonia	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency		5
HP:0002090	HP:0006532	Recurrent pneumonia	1	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive	.	3
HP:0002090	HP:0006532	Recurrent pneumonia	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0002090	HP:0006532	Recurrent pneumonia	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0002090	HP:0006532	Recurrent pneumonia	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002090	HP:0006532	Recurrent pneumonia	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002090	HP:0011951	Aspiration pneumonia	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0002090	HP:0006532	Recurrent pneumonia	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040283 - Occasional	140
HP:0002090	HP:0011951	Aspiration pneumonia	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002090	HP:0006532	Recurrent pneumonia	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0002090	HP:0011951	Aspiration pneumonia	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0002090	HP:0011951	Aspiration pneumonia	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0002090	HP:0011951	Aspiration pneumonia	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0002090	HP:0011951	Aspiration pneumonia	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0002090	HP:0006532	Recurrent pneumonia	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0002090	HP:0006532	Recurrent pneumonia	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0002090	HP:0006532	Recurrent pneumonia	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52		2
HP:0002090	HP:0006532	Recurrent pneumonia	1	LEP CL E G H	3952	6553	OMIM:614962	Leptin deficiency or dysfunction	.	47
HP:0002090	HP:0011951	Aspiration pneumonia	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0002090	HP:0006532	Recurrent pneumonia	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0002090	HP:0011951	Aspiration pneumonia	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		8
HP:0002090	HP:0006532	Recurrent pneumonia	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002090	HP:0011951	Aspiration pneumonia	1	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0002090	HP:0006532	Recurrent pneumonia	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0002090	HP:0011951	Aspiration pneumonia	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0002090	HP:0006532	Recurrent pneumonia	1	MASP2 CL E G H	10747	6902	OMIM:613791	Masp2 deficiency		41
HP:0002090	HP:0006532	Recurrent pneumonia	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0002090	HP:0011951	Aspiration pneumonia	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0002090	HP:0006532	Recurrent pneumonia	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0002090	HP:0011951	Aspiration pneumonia	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0002090	HP:0011951	Aspiration pneumonia	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0002090	HP:0011951	Aspiration pneumonia	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0002090	HP:0006532	Recurrent pneumonia	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0002090	HP:0006532	Recurrent pneumonia	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002090	HP:0006532	Recurrent pneumonia	1	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0002090	HP:0006532	Recurrent pneumonia	1	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0002090	HP:0011951	Aspiration pneumonia	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0002090	HP:0011951	Aspiration pneumonia	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002090	HP:0006532	Recurrent pneumonia	1	NFKB1 CL E G H	4790	7794	OMIM:616576	IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12		7
HP:0002090	HP:0006532	Recurrent pneumonia	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002090	HP:0006532	Recurrent pneumonia	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002090	HP:0011951	Aspiration pneumonia	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease		77
HP:0002090	HP:0006532	Recurrent pneumonia	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0002090	HP:0006532	Recurrent pneumonia	1	NME5 CL E G H	8382	7853	OMIM:620032
HP:0002090	HP:0011951	Aspiration pneumonia	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0002090	HP:0011951	Aspiration pneumonia	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0002090	HP:0011951	Aspiration pneumonia	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0002090	HP:0011951	Aspiration pneumonia	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0002090	HP:0011951	Aspiration pneumonia	1	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia		2
HP:0002090	HP:0011951	Aspiration pneumonia	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0002090	HP:0011951	Aspiration pneumonia	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0002090	HP:0006532	Recurrent pneumonia	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0002090	HP:0006532	Recurrent pneumonia	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0002090	HP:0006532	Recurrent pneumonia	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0002090	HP:0006532	Recurrent pneumonia	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0002090	HP:0011951	Aspiration pneumonia	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional	231
HP:0002090	HP:0011951	Aspiration pneumonia	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional	55
HP:0002090	HP:0011951	Aspiration pneumonia	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		88
HP:0002090	HP:0006532	Recurrent pneumonia	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0002090	HP:0006532	Recurrent pneumonia	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0002090	HP:0011951	Aspiration pneumonia	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0002090	HP:0011951	Aspiration pneumonia	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0002090	HP:0011951	Aspiration pneumonia	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0002090	HP:0006532	Recurrent pneumonia	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002090	HP:0006532	Recurrent pneumonia	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0002090	HP:0006532	Recurrent pneumonia	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0002090	HP:0011951	Aspiration pneumonia	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional	133
HP:0002090	HP:0011951	Aspiration pneumonia	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0002090	HP:0006532	Recurrent pneumonia	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.	105
HP:0002090	HP:0006532	Recurrent pneumonia	1	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:0002090	HP:0011951	Aspiration pneumonia	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0002090	HP:0006532	Recurrent pneumonia	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0002090	HP:0011951	Aspiration pneumonia	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002090	HP:0011951	Aspiration pneumonia	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0002090	HP:0011951	Aspiration pneumonia	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0002090	HP:0011951	Aspiration pneumonia	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	665
HP:0002090	HP:0011951	Aspiration pneumonia	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0002090	HP:0006532	Recurrent pneumonia	1	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:0002090	HP:0011951	Aspiration pneumonia	1	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:0002090	HP:0006532	Recurrent pneumonia	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002090	HP:0006532	Recurrent pneumonia	1	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:0002090	HP:0006532	Recurrent pneumonia	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0002090	HP:0006532	Recurrent pneumonia	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040282 - Frequent	7
HP:0002090	HP:0006532	Recurrent pneumonia	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0002090	HP:0006532	Recurrent pneumonia	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0002090	HP:0011951	Aspiration pneumonia	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0002090	HP:0011949	Acute infectious pneumonia	1	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	67
HP:0002090	HP:0011949	Acute infectious pneumonia	1	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	61
HP:0002090	HP:0011949	Acute infectious pneumonia	1	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	57
HP:0002090	HP:0011951	Aspiration pneumonia	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0002090	HP:0011951	Aspiration pneumonia	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0002090	HP:0006532	Recurrent pneumonia	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0002090	HP:0006532	Recurrent pneumonia	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0002090	HP:0011951	Aspiration pneumonia	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0002090	HP:0011951	Aspiration pneumonia	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0002090	HP:0011951	Aspiration pneumonia	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	67
HP:0002090	HP:0011951	Aspiration pneumonia	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0002090	HP:0006532	Recurrent pneumonia	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0002090	HP:0011951	Aspiration pneumonia	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0002090	HP:0011951	Aspiration pneumonia	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0002090	HP:0011951	Aspiration pneumonia	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0002090	HP:0011951	Aspiration pneumonia	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0002090	HP:0011951	Aspiration pneumonia	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0002090	HP:0006532	Recurrent pneumonia	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0002090	HP:0006532	Recurrent pneumonia	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002090	HP:0011951	Aspiration pneumonia	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0002090	HP:0011951	Aspiration pneumonia	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0002090	HP:0011951	Aspiration pneumonia	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0002090	HP:0011951	Aspiration pneumonia	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002090	HP:0006532	Recurrent pneumonia	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0002090	HP:0011951	Aspiration pneumonia	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0002090	HP:0011951	Aspiration pneumonia	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	135
HP:0002090	HP:0011951	Aspiration pneumonia	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0002090	HP:0011951	Aspiration pneumonia	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0002090	HP:0011951	Aspiration pneumonia	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0002090	HP:0011951	Aspiration pneumonia	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0002090	HP:0006532	Recurrent pneumonia	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	HP:0040283 - Occasional	1
HP:0002090	HP:0011951	Aspiration pneumonia	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0002090	HP:0011951	Aspiration pneumonia	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0002090	HP:0006532	Recurrent pneumonia	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0002090	HP:0011951	Aspiration pneumonia	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0002090	HP:0011951	Aspiration pneumonia	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0002090	HP:0011951	Aspiration pneumonia	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	99
HP:0002090	HP:0011951	Aspiration pneumonia	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0002090	HP:0006532	Recurrent pneumonia	1	STK36 CL E G H	27148	17209	OMIM:619436	CILIARY DYSKINESIA, PRIMARY, 46; CILD46		3
HP:0002090	HP:0011951	Aspiration pneumonia	1	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040283 - Occasional	21
HP:0002090	HP:0011951	Aspiration pneumonia	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0002090	HP:0006532	Recurrent pneumonia	1	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:0002090	HP:0006532	Recurrent pneumonia	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0002090	HP:0006532	Recurrent pneumonia	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0002090	HP:0011951	Aspiration pneumonia	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0002090	HP:0011951	Aspiration pneumonia	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0002090	HP:0011951	Aspiration pneumonia	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	1
HP:0002090	HP:0011951	Aspiration pneumonia	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0002090	HP:0011951	Aspiration pneumonia	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040283 - Occasional	18
HP:0002090	HP:0006532	Recurrent pneumonia	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002090	HP:0011951	Aspiration pneumonia	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0002090	HP:0011951	Aspiration pneumonia	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0002090	HP:0011951	Aspiration pneumonia	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0002090	HP:0011951	Aspiration pneumonia	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0002090	HP:0011951	Aspiration pneumonia	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional	15
HP:0002090	HP:0006532	Recurrent pneumonia	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent	103
HP:0002090	HP:0006532	Recurrent pneumonia	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0002090	HP:0006532	Recurrent pneumonia	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0002090	HP:0006532	Recurrent pneumonia	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.	12
HP:0002090	HP:0006532	Recurrent pneumonia	1	TNFRSF13C CL E G H	115650	17755	OMIM:613494	Immunodeficiency, common variable, 4		12
HP:0002090	HP:0006532	Recurrent pneumonia	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002090	HP:0011951	Aspiration pneumonia	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0002090	HP:0011951	Aspiration pneumonia	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0002090	HP:0011951	Aspiration pneumonia	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040283 - Occasional
HP:0002090	HP:0006532	Recurrent pneumonia	1	UNC119 CL E G H	9094	12565	OMIM:615518	IMMUNODEFICIENCY 13; IMD13		30
HP:0002090	HP:0006532	Recurrent pneumonia	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0002090	HP:0006532	Recurrent pneumonia	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0002090	HP:0006532	Recurrent pneumonia	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002090	HP:0006532	Recurrent pneumonia	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002090	HP:0006532	Recurrent pneumonia	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional	95
HP:0002090	HP:0006532	Recurrent pneumonia	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0002090	HP:0006532	Recurrent pneumonia	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0002090	HP:0011951	Aspiration pneumonia	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0002090	HP:0011951	Aspiration pneumonia	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0002090	HP:0011951	Aspiration pneumonia	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	34
HP:0002090	HP:0011951	Aspiration pneumonia	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0002090	HP:0006532	Recurrent pneumonia	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002090	HP:0011952	Acute aspiration pneumonia	2	CL E G H
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040282 - Frequent	78
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional	24
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent	83
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional
HP:0002090	HP:0033214	Recurrent viral pneumonia	2	IFIH1 CL E G H	64135	18873	OMIM:619773	IMMUNODEFICIENCY 95; IMD95		28
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent	77
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional	2
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0002090	HP:0002100	Recurrent aspiration pneumonia	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49

Genes (291) :AASS ABCA3 ACADVL ACP5 ACTA1 ACTC1 ADA AFF4 ALG12 ALMS1 AP3B1 ARID1A ARID1B ARID2 ARPC1B ARSB ASAH1 ATP6V0A1 ATP6V1B2 B3GALT6 BLM BLNK BTK C3 C4B CACNA1C CARD11 CARMIL2 CASP8 CAVIN1 CCDC39 CCDC40 CD19 CD247 CD27 CD3D CD3E CD55 CD79B CD81 CDON CFAP410 CFB CFTR CHD7 CITED2 CLPB COL11A2 COL4A5 COL4A6 CR2 CREBBP CRLF1 CSF2RA CSF2RB CSPP1 CXCR4 CYBA CYBB CYBC1 DCLRE1C DDR2 DISP1 DLL1 DNAH11 DNAI1 DNAI2 DNAJC21 DNMT3B DOCK2 DOCK8 DPF2 DRC1 DZIP1L EFEMP2 EFL1 EGFR ELANE EP300 EPM2A ERCC6 EXTL3 FANCF FBLN5 FBXW7 FCGR2A FCGR3B FCHO1 FGF8 FGFR1 FIG4 FMO3 FOCAD FOXH1 FOXN1 FOXP3 FUZ GALNS GAS1 GAS8 GATA4 GATA6 GBA1 GFI1 GIPC1 GLB1 GLI2 GNPTAB GRHL3 HACD1 HLA-DQA1 HLA-DQB1 HYDIN ICOS IDH1 IDS IFIH1 IFNGR1 IGBP1 IGHG2 IGHM IGKC IGLL1 IL12RB1 IL17RA IL21R IL2RG IL6ST IL7R IRF2BP2 IRF8 ITGA7 JAK3 KAT6A KCNJ6 KDM6A KIAA0586 KMT2D KNSTRN KPTN LAMA3 LAMB3 LAMC2 LAT LEP LIG4 LMNB1 LONP1 LRBA LRIF1 LTBP1 LTBP3 MAN2B1 MAP3K20 MASP2 MCIDAS MED25 MID1 MS4A1 MTHFD1 MTM1 MYH6 MYL2 MYO1H NADK2 NBN NCF1 NCF2 NDUFA6 NFIX NFKB1 NFKB2 NHLRC1 NIPBL NKX2-1 NKX2-5 NME5 NODAL NOS1 NOTCH2NLC NTRK1 ODAD1 ODAD2 OFD1 ORC6 OSTM1 P4HTM PAFAH1B1 PANK2 PDHA1 PEPD PGM3 PIGA PIGN PIK3CD PKHD1 PKP1 PLA2G6 PLCH1 PLOD1 PMM2 PNP POLA1 POLR3A PRKCD PTCD3 PTCH1 PURA RAC1 RAC2 RAG1 RAG2 RANBP2 REL RMRP RNF125 RNF168 RNU4ATAC RYR1 SAMD9 SBDS SCNN1A SCNN1B SCNN1G SDHD SELENON SETBP1 SFTPB SFTPC SGCG SHH SIAH1 SIX3 SLC25A24 SLC35A1 SLC35C1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCD2 SMARCE1 SMC1A SNAP29 SOX11 SOX4 SP110 SREBF1 SRP54 STAG2 STAT3 STIL STK36 SYK TAF1 TBC1D24 TBCD TBX1 TBX20 TCF3 TCIRG1 TDGF1 TFG TGFB1 TGIF1 TIMM8A TK2 TLL1 TNFRSF11A TNFRSF13B TNFRSF13C TNFSF12 TONSL TPM2 TPM3 TREX1 UBB UNC119 USB1 VPS33A WAS WDR1 WDR19 WDR35 ZAP70 ZBTB24 ZBTB7A ZIC2 ZNF699 ZNFX1

Diseases (240) :ORPHA:2203 ORPHA:70587 ORPHA:26793 ORPHA:1855 OMIM:607944 ORPHA:2020 ORPHA:97244 ORPHA:99103 ORPHA:39041 ORPHA:277 OMIM:102700 OMIM:616368 ORPHA:444077 ORPHA:79324 ORPHA:64 OMIM:203800 OMIM:608233 ORPHA:1465 OMIM:617718 OMIM:253200 ORPHA:2590 OMIM:619971 ORPHA:79500 OMIM:609465 ORPHA:125 OMIM:613502 OMIM:300755 OMIM:307200 ORPHA:47 OMIM:613779 OMIM:614379 OMIM:601005 OMIM:617638 OMIM:618131 OMIM:607271 OMIM:613327 OMIM:613807 OMIM:613808 ORPHA:1572 OMIM:240500 OMIM:610163 ORPHA:169160 OMIM:615122 OMIM:226300 OMIM:612692 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:602271 OMIM:615561 OMIM:219700 ORPHA:60033 OMIM:616271 ORPHA:486 OMIM:215150 ORPHA:1018 ORPHA:353281 ORPHA:353277 ORPHA:930 ORPHA:264675 ORPHA:397715 ORPHA:51636 OMIM:233690 OMIM:306400 OMIM:618935 OMIM:603554 OMIM:602450 OMIM:271665 OMIM:611884 OMIM:244400 OMIM:612444 ORPHA:811 OMIM:242860 OMIM:616433 ORPHA:217390 OMIM:243700 OMIM:615294 ORPHA:731 ORPHA:90349 OMIM:616069 ORPHA:353284 ORPHA:501 OMIM:214150 ORPHA:508533 OMIM:603467 OMIM:620012 ORPHA:464370 OMIM:619164 OMIM:216340 OMIM:602079 OMIM:619991 OMIM:618806 ORPHA:37042 ORPHA:1136 OMIM:253000 OMIM:616726 OMIM:230900 ORPHA:98897 ORPHA:79255 OMIM:252500 ORPHA:99772 OMIM:608647 OMIM:607594 ORPHA:99646 OMIM:309900 OMIM:615846 OMIM:619773 OMIM:209950 OMIM:300472 ORPHA:183675 OMIM:601495 OMIM:613500 ORPHA:319552 OMIM:613953 OMIM:615207 OMIM:312863 OMIM:300400 ORPHA:276 OMIM:619752 OMIM:619750 OMIM:608971 OMIM:226990 OMIM:600802 ORPHA:35078 OMIM:616268 ORPHA:435628 OMIM:147920 ORPHA:221139 OMIM:613328 ORPHA:397612 OMIM:615637 ORPHA:79404 OMIM:617514 OMIM:614962 ORPHA:99027 OMIM:619179 ORPHA:79243 OMIM:614700 OMIM:619477 OMIM:617809 ORPHA:309288 ORPHA:309282 OMIM:613791 OMIM:618695 ORPHA:464738 ORPHA:2745 OMIM:617780 ORPHA:596 OMIM:619482 ORPHA:431361 ORPHA:647 OMIM:251260 OMIM:233700 OMIM:233710 OMIM:618253 OMIM:602535 OMIM:616576 ORPHA:293978 OMIM:615577 OMIM:122470 ORPHA:209905 OMIM:620032 ORPHA:642 OMIM:615067 OMIM:615451 OMIM:300209 OMIM:613803 ORPHA:85179 OMIM:618493 ORPHA:95232 ORPHA:216866 OMIM:170100 ORPHA:443811 OMIM:301072 ORPHA:280633 OMIM:619281 ORPHA:158668 ORPHA:35069 OMIM:225400 ORPHA:1900 ORPHA:79318 OMIM:613179 OMIM:301220 OMIM:264090 OMIM:619057 ORPHA:314655 OMIM:617751 ORPHA:500159 OMIM:618986 OMIM:601457 OMIM:608033 OMIM:619652 OMIM:616260 ORPHA:420741 OMIM:616651 ORPHA:353298 ORPHA:98905 OMIM:617053 OMIM:619167 ORPHA:798 OMIM:610913 OMIM:253700 OMIM:619314 OMIM:612289 ORPHA:238459 OMIM:266265 ORPHA:99843 OMIM:619293 OMIM:617475 OMIM:609528 ORPHA:79124 OMIM:158310 OMIM:147060 OMIM:619436 OMIM:619381 ORPHA:53351 ORPHA:496641 OMIM:188400 OMIM:619824 ORPHA:90117 ORPHA:52368 ORPHA:254875 OMIM:612301 OMIM:613494 ORPHA:93357 ORPHA:247691 OMIM:615518 OMIM:604173 OMIM:617303 OMIM:301000 OMIM:150550 OMIM:614378 OMIM:613610 ORPHA:911 OMIM:269840 OMIM:614069 OMIM:619769 OMIM:619488 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