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:
Increased head circumference (HP:0040194)

Parent Node:
Macrocephaly (HP:0000256)

..Starting node
..Postnatal macrocephaly (HP:0005490)

Term ID:

5490

Name:

Postnatal macrocephaly

Synonym:

Macrocephaly, postnatal

Definition:

The postnatal development of an abnormally large skull (macrocephaly).

Comments:

Reference:

HP:0005490

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macrocephaly at birth (HP:0004488)

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:0005490	HP:0005490	Postnatal macrocephaly	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0005490	HP:0005490	Postnatal macrocephaly	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0005490	HP:0005490	Postnatal macrocephaly	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0005490	HP:0005490	Postnatal macrocephaly	0	PAK1 CL E G H	5058	8590	OMIM:618158	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	.
HP:0005490	HP:0005490	Postnatal macrocephaly	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.	948

Genes (5) :FAM111A GNB1 MED12 PAK1 PTEN

Diseases (5) :ORPHA:93325 OMIM:616973 OMIM:305450 OMIM:618158 OMIM:605309

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