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:
Microcephaly (HP:0000252)

Parent Node:
Secondary microcephaly (HP:0005484)

..Starting node
..Cessation of head growth (HP:0004485)

Term ID:

4485

Name:

Cessation of head growth

Synonym:

Cranium stopped growing; Head stopped growing; Skull stopped growing

Definition:

Stagnation of head growth seen as flattening of the head circumference curve.

Comments:

Reference:

HP:0004485

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004485	HP:0004485	Cessation of head growth	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	4
HP:0004485	HP:0004485	Cessation of head growth	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0004485	HP:0004485	Cessation of head growth	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0004485	HP:0004485	Cessation of head growth	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0004485	HP:0004485	Cessation of head growth	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0004485	HP:0004485	Cessation of head growth	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0004485	HP:0004485	Cessation of head growth	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent	121
HP:0004485	HP:0004485	Cessation of head growth	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0004485	HP:0004485	Cessation of head growth	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	37
HP:0004485	HP:0004485	Cessation of head growth	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent	278
HP:0004485	HP:0004485	Cessation of head growth	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	278
HP:0004485	HP:0004485	Cessation of head growth	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent	278
HP:0004485	HP:0004485	Cessation of head growth	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	278

Genes (10) :ATP10A EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 OCA2 PLAA SNRPN UBE3A

Diseases (6) :ORPHA:411515 OMIM:603896 ORPHA:98794 OMIM:617527 ORPHA:411511 ORPHA:98795

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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