Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 facial shape (HP:0001999)

Parent Node:
Large face (HP:0100729)

..Starting node
..Broad face (HP:0000283)

Term ID:

283

Name:

Broad face

Synonym:

Broad face; Broad facies; Horizontal excess of face; Horizontal hyperplasia of face; Increased breadth of face; Increased horizontal dimension of face; Increased transverse dimension of face; Increased width of face; Transverse excess of face; Transverse hyperplasia of face; Wide face; Wide facies

Definition:

Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).

Comments:

Reference:

HP:0000283

Genes and Diseases:

Child Nodes:

Sister Nodes:

Long face (HP:0000276)

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:0000283	HP:0000283	Broad face	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0000283	HP:0000283	Broad face	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0000283	HP:0000283	Broad face	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000283	HP:0000283	Broad face	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0000283	HP:0000283	Broad face	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0000283	HP:0000283	Broad face	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0000283	HP:0000283	Broad face	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0000283	HP:0000283	Broad face	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0000283	HP:0000283	Broad face	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0000283	HP:0000283	Broad face	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000283	HP:0000283	Broad face	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0000283	HP:0000283	Broad face	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000283	HP:0000283	Broad face	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0000283	HP:0000283	Broad face	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0000283	HP:0000283	Broad face	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0000283	HP:0000283	Broad face	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000283	HP:0000283	Broad face	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0000283	HP:0000283	Broad face	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97		34

Genes (17) :AGA BRAT1 FLNA FLNB HDAC4 IDUA NFIA PDE4D PTCH1 PTCH2 RAI1 SNX14 SUFU TBL1XR1 TGFB3 UBE2A ZNF711

Diseases (16) :OMIM:208400 OMIM:618056 OMIM:304120 OMIM:272460 OMIM:600430 OMIM:607016 OMIM:613735 ORPHA:439822 OMIM:109400 OMIM:610828 OMIM:182290 OMIM:616354 OMIM:602342 OMIM:615582 OMIM:300860 OMIM:300803

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen