Human Phenotype Ontology

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

Grandparent Node:
Abnormality of the head (HP:0000234)

Parent Node:
Abnormality of the pharynx (HP:0000600)

..Starting node
..Posterior pharyngeal cleft (HP:0006783)

Term ID:

6783

Name:

Posterior pharyngeal cleft

Synonym:

Definition:

Comments:

Reference:

HP:0006783

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal hypopharynx morphology (HP:3000053)

Abnormal morphology of musculature of pharynx (HP:0430015)

Abnormal nasopharynx morphology (HP:0001739)

Hypoplasia of the pharynx (HP:0009555)

Oral-pharyngeal dysphagia (HP:0200136)

Pharyngeal edema (HP:0011855)

Pharyngitis (HP:0025439)

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:0006783	HP:0006783	Posterior pharyngeal cleft	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	38
HP:0006783	HP:0006783	Posterior pharyngeal cleft	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0006783	HP:0006783	Posterior pharyngeal cleft	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	10
HP:0006783	HP:0006783	Posterior pharyngeal cleft	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	32
HP:0006783	HP:0006783	Posterior pharyngeal cleft	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	4
HP:0006783	HP:0006783	Posterior pharyngeal cleft	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0006783	HP:0006783	Posterior pharyngeal cleft	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1
HP:0006783	HP:0006783	Posterior pharyngeal cleft	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	7
HP:0006783	HP:0006783	Posterior pharyngeal cleft	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	11
HP:0006783	HP:0006783	Posterior pharyngeal cleft	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	10
HP:0006783	HP:0006783	Posterior pharyngeal cleft	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	32
HP:0006783	HP:0006783	Posterior pharyngeal cleft	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	12
HP:0006783	HP:0006783	Posterior pharyngeal cleft	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional	1

Genes (13) :CD19 CD81 CR2 ICOS IRF2BP2 MID1 MS4A1 NFKB1 NFKB2 PRKCD TNFRSF13B TNFRSF13C TNFSF12

Diseases (2) :ORPHA:1572 OMIM:300000

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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