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:
Abnormal midface morphology (HP:0000309)

Grandparent Node:
Abnormal zygomatic bone morphology (HP:0010668)

Parent Node:
obsolete Abnormal malar bone morphology (HP:0012369)

..Starting node
..Malar prominence (HP:0010620)

Term ID:

10620

Name:

Malar prominence

Synonym:

Hyperplasia of malar bones; Malar excess; Malar hyperplasia; Prominent malar region

Definition:

Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.

Comments:

Reference:

HP:0010620

Genes and Diseases:

Child Nodes:

Sister Nodes:

Malar flattening (HP:0000272)

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:0010620	HP:0010620	Malar prominence	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0010620	HP:0010620	Malar prominence	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0010620	HP:0010620	Malar prominence	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0010620	HP:0010620	Malar prominence	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040284 - Very rare	580
HP:0010620	HP:0010620	Malar prominence	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	37
HP:0010620	HP:0010620	Malar prominence	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	8
HP:0010620	HP:0010620	Malar prominence	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0010620	HP:0010620	Malar prominence	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	2
HP:0010620	HP:0010620	Malar prominence	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	9

Genes (7) :CTDP1 HBB HDAC8 LAS1L NBN NSMCE2 XRCC4

Diseases (7) :OMIM:604168 ORPHA:48431 ORPHA:231214 ORPHA:231226 ORPHA:3459 OMIM:251260 ORPHA:436182

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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