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:
Abnormality of the face (HP:0000271)

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

..Starting node
..Tall chin (HP:0400000)

Term ID:

400000

Name:

Tall chin

Synonym:

Increased height of chin; Increased height of menton region; Long chin; Long lower third of face; Tall chin; Vertical excess of chin; Vertical hyperplasia of chin

Definition:

Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.

Comments:

Reference:

HP:0400000

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)

Dimple chin (HP:0010751)

Mandibular prognathia (HP:0000303)

Pointed chin (HP:0000307)

Short chin (HP:0000331)

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:0400000	HP:0400000	Tall chin	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0400000	HP:0400000	Tall chin	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0400000	HP:0400000	Tall chin	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	HP:0040283 - Occasional	93
HP:0400000	HP:0400000	Tall chin	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0400000	HP:0400000	Tall chin	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent	55
HP:0400000	HP:0400000	Tall chin	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60
HP:0400000	HP:0400000	Tall chin	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1

Genes (7) :APC2 EIF2S3 MYH8 NSD1 OPHN1 SETD2 TLK2

Diseases (5) :ORPHA:821 OMIM:300148 OMIM:158300 ORPHA:137831 OMIM:618050

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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