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:
Increased head circumference (HP:0040194)

Parent Node:
Macrocephaly (HP:0000256)

..Starting node
..Macrocephaly at birth (HP:0004488)

Term ID:

4488

Name:

Macrocephaly at birth

Synonym:

Big cranium present at birth; Big cranium present since birth; Big head present at birth; Big head present since birth; Big skull present at birth; Big skull present since birth; Congenital large cranium; Congenital large head; Congenital large skull; Congenital macrocephaly; Head circumference large for gestational age; Large cranium present at birth; Large cranium present since birth; Large head present at birth; Large head present since birth; Large skull present at birth; Large skull present since birth

Definition:

The presence of an abnormally large skull with onset at birth.

Comments:

Reference:

HP:0004488

Genes and Diseases:

Child Nodes:

Sister Nodes:

Postnatal macrocephaly (HP:0005490)

Progressive macrocephaly (HP:0004481)

Relative macrocephaly (HP:0004482)

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:0004488	HP:0004488	Macrocephaly at birth	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0004488	HP:0004488	Macrocephaly at birth	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0004488	HP:0004488	Macrocephaly at birth	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0004488	HP:0004488	Macrocephaly at birth	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0004488	HP:0004488	Macrocephaly at birth	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0004488	HP:0004488	Macrocephaly at birth	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0004488	HP:0004488	Macrocephaly at birth	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent	37
HP:0004488	HP:0004488	Macrocephaly at birth	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0004488	HP:0004488	Macrocephaly at birth	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040284 - Very rare	57

Genes (9) :BIN1 DNM2 FOCAD MTMR14 MYF6 ODC1 PIGN RYR1 SLC16A2

Diseases (5) :ORPHA:169189 OMIM:619991 OMIM:619075 ORPHA:280633 ORPHA:59

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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