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:
Abnormality of the face (HP:0000271)

Parent Node:
Abnormality of the chin (HP:0000306)

..Starting node
..Dimple chin (HP:0010751)

Term ID:

10751

Name:

Dimple chin

Synonym:

Chin butt; Chin dent; Chin dimple; Chin dimples; Chin skin dimple; Dimple chin; Gelasin of chin; Indentation of chin

Definition:

A persistent midline depression of the skin over the fat pad of the chin.

Comments:

Reference:

HP:0010751

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of depressor labii inferioris (HP:3000029)

Abnormality of mentalis muscle (HP:3000007)

Broad chin (HP:0011822)

Chin with H-shaped crease (HP:0011824)

Chin with horizontal crease (HP:0011823)

Chin with vertical crease (HP:0400001)

Cleft of chin (HP:0011323)

Mandibular prognathia (HP:0000303)

Pointed chin (HP:0000307)

Short chin (HP:0000331)

Tall chin (HP:0400000)

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:0010751	HP:0010751	Dimple chin	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0010751	HP:0010751	Dimple chin	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0010751	HP:0010751	Dimple chin	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0010751	HP:0010751	Dimple chin	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0010751	HP:0010751	Dimple chin	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0010751	HP:0010751	Dimple chin	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0010751	HP:0010751	Dimple chin	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0010751	HP:0010751	Dimple chin	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040281 - Very frequent	77
HP:0010751	HP:0010751	Dimple chin	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0010751	HP:0010751	Dimple chin	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040282 - Frequent	90
HP:0010751	HP:0010751	Dimple chin	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0010751	HP:0010751	Dimple chin	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0010751	HP:0010751	Dimple chin	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional	6
HP:0010751	HP:0010751	Dimple chin	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040283 - Occasional	28
HP:0010751	HP:0010751	Dimple chin	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0010751	HP:0010751	Dimple chin	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040281 - Very frequent	7

Genes (15) :CHD7 CTU2 EZH2 KCNJ6 MYH3 NALCN PIEZO2 PIK3R1 RUNX2 SEMA3E SMARCA2 SPECC1L TBX22 TFAP2A TWIST2

Diseases (14) :ORPHA:138 OMIM:618142 OMIM:277590 ORPHA:435628 OMIM:193700 ORPHA:2053 ORPHA:1154 OMIM:269880 ORPHA:1452 OMIM:619293 ORPHA:1519 ORPHA:921 OMIM:113620 ORPHA:1807

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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