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
..Broad chin (HP:0011822)

Term ID:

11822

Name:

Broad chin

Synonym:

Broad chin; Increased width of chin; Increased width of menton region; Wide chin

Definition:

Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.

Comments:

Reference:

HP:0011822

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of depressor labii inferioris (HP:3000029)

Abnormality of mentalis muscle (HP:3000007)

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)

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:0011822	HP:0011822	Broad chin	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0011822	HP:0011822	Broad chin	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0011822	HP:0011822	Broad chin	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0011822	HP:0011822	Broad chin	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0011822	HP:0011822	Broad chin	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0011822	HP:0011822	Broad chin	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	165
HP:0011822	HP:0011822	Broad chin	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0011822	HP:0011822	Broad chin	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0011822	HP:0011822	Broad chin	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	237
HP:0011822	HP:0011822	Broad chin	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0011822	HP:0011822	Broad chin	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20

Genes (9) :DYRK1A EBF3 KANSL1 LMX1B SLC12A2 STEEP1 STXBP1 TAF1 WAC

Diseases (10) :ORPHA:268261 OMIM:617330 ORPHA:363958 OMIM:610443 ORPHA:363965 ORPHA:495818 OMIM:619080 OMIM:301013 OMIM:300966 ORPHA:466950

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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