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:
Cleft palate (HP:0000175)

Parent Node:
obsolete Cleft secondary palate (HP:0410004)

..Starting node
..Cleft hard palate (HP:0410005)

Term ID:

410005

Name:

Cleft hard palate

Synonym:

Cleft bony palate; Cleft of hard palate

Definition:

Comments:

Reference:

HP:0410005

Genes and Diseases:

Child Nodes:

........

Cleft of alveolar ridge of maxilla (HP:0010289)

................... HP:0009094 Cleft lower alveolar ridge
................... HP:0410033 Unilateral alveolar cleft of maxilla
................... HP:0410034 Bilateral alveolar cleft of maxilla

Sister Nodes:

Cleft soft palate (HP:0000185)

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:0410005	HP:0410005	Cleft hard palate	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0410005	HP:0410005	Cleft hard palate	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0410005	HP:0410005	Cleft hard palate	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0410005	HP:0410005	Cleft hard palate	0	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0410005	HP:0410005	Cleft hard palate	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional	140
HP:0410005	HP:0410005	Cleft hard palate	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0410005	HP:0410005	Cleft hard palate	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0410005	HP:0010289	Cleft of alveolar ridge of maxilla	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0410005	HP:0010289	Cleft of alveolar ridge of maxilla	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0410005	HP:0010289	Cleft of alveolar ridge of maxilla	1	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0410005	HP:0410034	Bilateral alveolar cleft of maxilla	2	CL E G H
HP:0410005	HP:0009094	Cleft lower alveolar ridge	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0410005	HP:0410033	Unilateral alveolar cleft of maxilla	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101

Genes (6) :AMMECR1 EIF4A3 NEK1 NUAK2 TP63 ZEB2

Diseases (7) :OMIM:300990 OMIM:268305 ORPHA:2751 OMIM:619452 ORPHA:69085 ORPHA:261552 ORPHA:261537

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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