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:
Turricephaly (HP:0000262)

..Starting node
..Oxycephaly (HP:0000263)

Term ID:

263

Name:

Oxycephaly

Synonym:

Acrocephaly

Definition:

Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.

Comments:

Reference:

HP:0000263

Genes and Diseases:

Child Nodes:

Sister Nodes:

Brachyturricephaly (HP:0000244)

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:0000263	HP:0000263	Oxycephaly	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000263	HP:0000263	Oxycephaly	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0000263	HP:0000263	Oxycephaly	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent	13
HP:0000263	HP:0000263	Oxycephaly	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0000263	HP:0000263	Oxycephaly	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040281 - Very frequent	31
HP:0000263	HP:0000263	Oxycephaly	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000263	HP:0000263	Oxycephaly	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1	.	18
HP:0000263	HP:0000263	Oxycephaly	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18

Genes (6) :FGFR2 IL11RA MEGF8 RAB23 SOX6 TWIST1

Diseases (6) :OMIM:101400 OMIM:614188 ORPHA:65759 OMIM:614976 OMIM:618971 OMIM:123100

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