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:
Cleft palate (HP:0000175)

Parent Node:
Median cleft lip (HP:0000161)

Parent Node:
Median cleft palate (HP:0009099)

..Starting node
..Median cleft lip and palate (HP:0008501)

Term ID:

8501

Name:

Median cleft lip and palate

Synonym:

Central cleft lip and palate; Medial cleft lip and palate; Midline cleft lip/palate; Wide midline cleft lip/palate

Definition:

Cleft lip or palate affecting the midline region of the palate.

Comments:

Reference:

HP:0008501

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008501	HP:0008501	Median cleft lip and palate	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0008501	HP:0008501	Median cleft lip and palate	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0008501	HP:0008501	Median cleft lip and palate	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent	35
HP:0008501	HP:0008501	Median cleft lip and palate	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0008501	HP:0008501	Median cleft lip and palate	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0008501	HP:0008501	Median cleft lip and palate	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	173
HP:0008501	HP:0008501	Median cleft lip and palate	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	21
HP:0008501	HP:0008501	Median cleft lip and palate	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	43
HP:0008501	HP:0008501	Median cleft lip and palate	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	41
HP:0008501	HP:0008501	Median cleft lip and palate	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	36
HP:0008501	HP:0008501	Median cleft lip and palate	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare	54
HP:0008501	HP:0008501	Median cleft lip and palate	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0008501	HP:0008501	Median cleft lip and palate	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0008501	HP:0008501	Median cleft lip and palate	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0008501	HP:0008501	Median cleft lip and palate	0	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.	32
HP:0008501	HP:0008501	Median cleft lip and palate	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98

Genes (16) :DVL1 DVL3 FAM20C FOXA2 FZD2 GLI2 HESX1 LHX4 OTX2 POU1F1 PROP1 PTCH1 SIX3 SLC2A10 TGIF1 WNT5A

Diseases (7) :ORPHA:3107 ORPHA:1832 ORPHA:95494 OMIM:610828 OMIM:157170 ORPHA:3342 OMIM:142946

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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