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:
Abnormal calvaria morphology (HP:0002683)

Parent Node:
obsolete Abnormality of calvarial morphology (HP:0002648)

..Starting node
..Broad skull (HP:0002682)

Term ID:

2682

Name:

Broad skull

Synonym:

Broad cranium; Broad skull; Increased width of cranium; Increased width of skull; Wide cranium; Wide skull

Definition:

Increased width of the skull.

Comments:

Reference:

HP:0002682

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal parietal bone morphology (HP:0002696)

Abnormal shape of the frontal region (HP:0011218)

Abnormal shape of the occiput (HP:0011217)

Acrania (HP:0030716)

Biparietal narrowing (HP:0004422)

Brachycephaly (HP:0000248)

Calvarial skull defect (HP:0001362)

Cloverleaf skull (HP:0002676)

Cranial asymmetry (HP:0000267)

Craniosynostosis (HP:0001363)

Dolichocephaly (HP:0000268)

Obliteration of the calvarial diploe (HP:0030312)

Plagiocephaly (HP:0001357)

Platybasia (HP:0002691)

Skull asymmetry (HP:0002678)

Trigonocephaly (HP:0000243)

Turricephaly (HP:0000262)

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:0002682	HP:0002682	Broad skull	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0002682	HP:0002682	Broad skull	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0002682	HP:0002682	Broad skull	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8

Genes (3) :ADAMTS10 FBN1 LONP1

Diseases (3) :OMIM:277600 OMIM:608328 OMIM:600373

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