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
..Broad alveolar ridges (HP:0000187)

Term ID:

187

Name:

Broad alveolar ridges

Synonym:

Broad alveolar margins; Broad alveolar processes of jaw; Wide alveolar margins; Wide alveolar processes of jaw; Wide gum ridges; Widened alveolar ridges

Definition:

Comments:

Reference:

HP:0000187

Genes and Diseases:

Child Nodes:

........

Broad secondary alveolar ridge (HP:0000216)

Sister Nodes:

Alveolar process hypoplasia (HP:0006329)

Alveolar ridge overgrowth (HP:0009085)

Atrophy of alveolar ridges (HP:0006308)

Fibrous syngnathia (HP:0009754)

Midline notch of upper alveolar ridge (HP:0009084)

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:0000187	HP:0000187	Broad alveolar ridges	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0000187	HP:0000187	Broad alveolar ridges	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0000187	HP:0000187	Broad alveolar ridges	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0000187	HP:0000187	Broad alveolar ridges	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000187	HP:0000187	Broad alveolar ridges	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0000187	HP:0000187	Broad alveolar ridges	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000187	HP:0000187	Broad alveolar ridges	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0000187	HP:0000187	Broad alveolar ridges	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0000187	HP:0000187	Broad alveolar ridges	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0000187	HP:0000187	Broad alveolar ridges	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0000187	HP:0000187	Broad alveolar ridges	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0000187	HP:0000187	Broad alveolar ridges	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040281 - Very frequent	201
HP:0000187	HP:0000187	Broad alveolar ridges	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000187	HP:0000187	Broad alveolar ridges	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0000187	HP:0000187	Broad alveolar ridges	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000187	HP:0000187	Broad alveolar ridges	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0000187	HP:0000187	Broad alveolar ridges	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0000187	HP:0000187	Broad alveolar ridges	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0000187	HP:0000216	Broad secondary alveolar ridge	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000187	HP:0000216	Broad secondary alveolar ridge	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6

Genes (15) :ARX ASXL1 ATP6V1B2 DHCR7 DIS3L2 FIG4 GJA1 GNS OFD1 RERE SETBP1 SH3PXD2B TBC1D24 VAC14 ZC4H2

Diseases (16) :OMIM:300004 OMIM:605039 ORPHA:79500 OMIM:270400 ORPHA:2849 OMIM:216340 ORPHA:3472 OMIM:218400 OMIM:164200 ORPHA:2710 OMIM:252940 ORPHA:2750 OMIM:616975 ORPHA:798 OMIM:249420 OMIM:314580

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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