Human Phenotype Ontology

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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)

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

..Starting node
..Cloverleaf skull (HP:0002676)

Term ID:

2676

Name:

Cloverleaf skull

Synonym:

Cloverleaf cranium shape; Cloverleaf skull shape; Kleeblattschaedel; Trilobar cranium shape; Trilobar skull shape

Definition:

Trilobar skull configuration when viewed from the front or behind.

Comments:

Reference:

HP:0002676

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)

Broad skull (HP:0002682)

Calvarial skull defect (HP:0001362)

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:0002676	HP:0002676	Cloverleaf skull	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002676	HP:0002676	Cloverleaf skull	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0002676	HP:0002676	Cloverleaf skull	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	HP:0040283 - Occasional	172
HP:0002676	HP:0002676	Cloverleaf skull	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional	175
HP:0002676	HP:0002676	Cloverleaf skull	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0002676	HP:0002676	Cloverleaf skull	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0002676	HP:0002676	Cloverleaf skull	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	HP:0040283 - Occasional	175
HP:0002676	HP:0002676	Cloverleaf skull	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0002676	HP:0002676	Cloverleaf skull	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040283 - Occasional	145
HP:0002676	HP:0002676	Cloverleaf skull	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040281 - Very frequent	145
HP:0002676	HP:0002676	Cloverleaf skull	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0002676	HP:0002676	Cloverleaf skull	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0002676	HP:0002676	Cloverleaf skull	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent	13
HP:0002676	HP:0002676	Cloverleaf skull	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0002676	HP:0002676	Cloverleaf skull	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040282 - Frequent	31
HP:0002676	HP:0002676	Cloverleaf skull	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136

Genes (8) :EXTL3 FGFR1 FGFR2 FGFR3 MEGF8 POR RAB23 WDR35

Diseases (14) :ORPHA:508533 OMIM:166250 OMIM:101600 ORPHA:87 OMIM:123790 ORPHA:1555 ORPHA:93259 ORPHA:1860 ORPHA:93274 OMIM:187600 OMIM:187601 ORPHA:65759 OMIM:201750 OMIM:613610

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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