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:
obsolete Abnormality of calvarial morphology (HP:0002648)

Parent Node:
Brachycephaly (HP:0000248)

Parent Node:
Turricephaly (HP:0000262)

..Starting node
..Brachyturricephaly (HP:0000244)

Term ID:

244

Name:

Brachyturricephaly

Synonym:

Brachy-turricephaly; High, prominent forehead; Turribrachycephaly

Definition:

Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.

Comments:

Reference:

HP:0000244

Genes and Diseases:

Child Nodes:

Sister Nodes:

Oxycephaly (HP:0000263)

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:0000244	HP:0000244	Brachyturricephaly	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000244	HP:0000244	Brachyturricephaly	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0000244	HP:0000244	Brachyturricephaly	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000244	HP:0000244	Brachyturricephaly	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040281 - Very frequent	175
HP:0000244	HP:0000244	Brachyturricephaly	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0000244	HP:0000244	Brachyturricephaly	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0000244	HP:0000244	Brachyturricephaly	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000244	HP:0000244	Brachyturricephaly	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	.	45
HP:0000244	HP:0000244	Brachyturricephaly	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000244	HP:0000244	Brachyturricephaly	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000244	HP:0000244	Brachyturricephaly	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040281 - Very frequent	445
HP:0000244	HP:0000244	Brachyturricephaly	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0000244	HP:0000244	Brachyturricephaly	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.	34
HP:0000244	HP:0000244	Brachyturricephaly	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1

Genes (10) :FAM20C FGFR1 FGFR2 FHL1 MSX2 PEX1 RECQL4 SKI SP7 SYT1

Diseases (13) :OMIM:259775 OMIM:101600 OMIM:101200 ORPHA:87 ORPHA:93260 OMIM:300280 OMIM:604757 OMIM:214100 OMIM:218600 ORPHA:1225 OMIM:182212 OMIM:613849 ORPHA:522077

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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