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 calvaria morphology (HP:0002683)

Grandparent Node:
Hyperostosis (HP:0100774)

Parent Node:
Abnormal facial skeleton morphology (HP:0011821)

Parent Node:
Abnormality of the face (HP:0000271)

Parent Node:
Cranial hyperostosis (HP:0004437)

..Starting node
..Craniofacial hyperostosis (HP:0004493)

Term ID:

4493

Name:

Craniofacial hyperostosis

Synonym:

Enlargement of craniofacial bones; Excessive bone growth of the skull and face; Excessive growth of craniofacial bones; Hyperostosis of craniofacial bones; Hypertrophy of craniofacial bones; Increased ossification of craniofacial bones; Overgrowth of craniofacial bones; Thick craniofacial bones

Definition:

Excessive growth of the craniofacial bones.

Comments:

Reference:

HP:0004493

Genes and Diseases:

Child Nodes:

........

Facial hyperostosis (HP:0005465)

................... HP:0004472 Mandibular hyperostosis
................... HP:0007285 Facial palsy secondary to cranial hyperostosis

Sister Nodes:

Calvarial hyperostosis (HP:0004490)

Hyperostosis cranialis interna (HP:0005890)

Hyperostosis frontalis interna (HP:0004438)

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:0004493	HP:0004493	Craniofacial hyperostosis	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040281 - Very frequent	164
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent	38
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040281 - Very frequent	68
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive		68
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent	124
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040281 - Very frequent	125
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	68
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent	504
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040281 - Very frequent	26
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent	26
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia	HP:0040281 - Very frequent	16
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	82
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	72
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	34
HP:0004493	HP:0004493	Craniofacial hyperostosis	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	86
HP:0004493	HP:0005465	Facial hyperostosis	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0004493	HP:0005465	Facial hyperostosis	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040281 - Very frequent	34
HP:0004493	HP:0005465	Facial hyperostosis	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0004493	HP:0005465	Facial hyperostosis	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0004493	HP:0005465	Facial hyperostosis	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0004493	HP:0004472	Mandibular hyperostosis	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0004493	HP:0007285	Facial palsy secondary to cranial hyperostosis	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26

Genes (27) :AKT1 AMER1 ANKH B3GALT6 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 FGFR1 FLNA GJA1 GNAS KRAS LRP4 LRP5 NOTCH3 PTDSS1 RPS6KA3 SLC29A3 SMAD4 SOST TBXAS1 TCIRG1 TNFRSF11A XPA XPC

Diseases (20) :OMIM:176920 ORPHA:2780 ORPHA:1522 ORPHA:2725 ORPHA:910 ORPHA:2396 ORPHA:2484 OMIM:218400 OMIM:174800 ORPHA:3152 ORPHA:2790 ORPHA:2789 ORPHA:2658 ORPHA:192 ORPHA:1782 ORPHA:2588 ORPHA:1513 OMIM:122860 OMIM:269500 ORPHA:1802

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