Human Phenotype Ontology

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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:
Pneumonia (HP:0002090)

Parent Node:
Aspiration pneumonia (HP:0011951)

..Starting node
..Recurrent aspiration pneumonia (HP:0002100)

Term ID:

2100

Name:

Recurrent aspiration pneumonia

Synonym:

Recurrent pneumonia due to aspiration,

Definition:

Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.

Comments:

Reference:

HP:0002100

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute aspiration pneumonia (HP:0011952)

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:0002100	HP:0002100	Recurrent aspiration pneumonia	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040282 - Frequent	78
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	CRLF1 CL E G H	9244	2364	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional	24
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent	83
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	HLA-DQA1 CL E G H	3117	4942	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent	77
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	NOS1 CL E G H	4842	7872	ORPHA:930	Idiopathic achalasia	HP:0040283 - Occasional	2
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0002100	HP:0002100	Recurrent aspiration pneumonia	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49

Genes (27) :ASAH1 ATP6V0A1 CRLF1 CSPP1 EPM2A GBA1 GIPC1 HLA-DQA1 HLA-DQB1 IGBP1 KAT6A KDM6A KIAA0586 KMT2D KNSTRN LONP1 MID1 NFIX NHLRC1 NOS1 NOTCH2NLC NTRK1 PDHA1 PIGN PIK3CD SLC25A24 SP110

Diseases (18) :ORPHA:2590 OMIM:619971 ORPHA:930 ORPHA:397715 ORPHA:501 OMIM:230900 ORPHA:98897 OMIM:300472 OMIM:616268 OMIM:147920 ORPHA:221139 ORPHA:79243 ORPHA:2745 OMIM:602535 ORPHA:642 ORPHA:280633 OMIM:612289 ORPHA:79124

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

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