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:
Abnormal oral cavity morphology (HP:0000163)

Parent Node:
Abnormality of the alveolar ridges (HP:0006477)

..Starting node
..Midline notch of upper alveolar ridge (HP:0009084)

Term ID:

9084

Name:

Midline notch of upper alveolar ridge

Synonym:

Midline cleft of maxillary alveolar process; Midline cleft of upper alveolar ridge; Midline notch of maxillary alveolar process; Midline notch of maxillary alveolar ridge; Midline notch of upper gum ridge

Definition:

Comments:

Reference:

HP:0009084

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alveolar process hypoplasia (HP:0006329)

Alveolar ridge overgrowth (HP:0009085)

Atrophy of alveolar ridges (HP:0006308)

Broad alveolar ridges (HP:0000187)

Fibrous syngnathia (HP:0009754)

Progressive alveolar ridge hypertropy (HP:0009092)

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:0009084	HP:0009084	Midline notch of upper alveolar ridge	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0009084	HP:0009084	Midline notch of upper alveolar ridge	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0009084	HP:0009084	Midline notch of upper alveolar ridge	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	4
HP:0009084	HP:0009084	Midline notch of upper alveolar ridge	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	167
HP:0009084	HP:0009084	Midline notch of upper alveolar ridge	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	201
HP:0009084	HP:0009084	Midline notch of upper alveolar ridge	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	1
HP:0009084	HP:0009084	Midline notch of upper alveolar ridge	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	31
HP:0009084	HP:0009084	Midline notch of upper alveolar ridge	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	45
HP:0009084	HP:0009084	Midline notch of upper alveolar ridge	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	61

Genes (9) :CPLANE1 FAM149B1 KIAA0753 KIF7 OFD1 PDE6D TCTN3 TMEM216 TOPORS

Diseases (1) :ORPHA:2754

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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