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 axial skeleton morphology (HP:0009121)

Grandparent Node:
Abnormality of the head (HP:0000234)

Parent Node:
Abnormal skull morphology (HP:0000929)

..Starting node
..Abnormal temporal bone morphology (HP:0009911)

Term ID:

9911

Name:

Abnormal temporal bone morphology

Synonym:

Abnormality of the temporal bone

Definition:

Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.

Comments:

Reference:

HP:0009911

Genes and Diseases:

Child Nodes:

........

Agenesis of the carotid canal (HP:0031604)

Sister Nodes:

Abnormal calvaria morphology (HP:0002683)

Abnormal facial skeleton morphology (HP:0011821)

Abnormal foramen magnum morphology (HP:0002699)

Abnormal mastoid morphology (HP:0000264)

Abnormal morphology of bony orbit of skull (HP:3000030)

Abnormal occipital bone morphology (HP:0012294)

Abnormal sella turcica morphology (HP:0002679)

Abnormality of skull ossification (HP:0002703)

Abnormality of skull size (HP:0000240)

Abnormality of the skull base (HP:0002693)

Aplasia/Hypoplasia involving bones of the skull (HP:0009116)

Cephalocele (HP:0011815)

Craniofacial dysostosis (HP:0004439)

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:0009911	HP:0009911	Abnormal temporal bone morphology	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0009911	HP:0009911	Abnormal temporal bone morphology	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0009911	HP:0009911	Abnormal temporal bone morphology	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		7
HP:0009911	HP:0009911	Abnormal temporal bone morphology	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6		64
HP:0009911	HP:0009911	Abnormal temporal bone morphology	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0009911	HP:0032045	Hypoplastic carotid canal	1	CL E G H
HP:0009911	HP:0031604	Agenesis of the carotid canal	1	CL E G H
HP:0009911	HP:0032569	Temporal bossing	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0009911	HP:0032569	Temporal bossing	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0009911	HP:0032569	Temporal bossing	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76

Genes (5) :CEP57 FGFR3 GDF3 GDF6 POR

Diseases (4) :OMIM:614114 OMIM:602849 OMIM:613703 OMIM:201750

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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