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
..Progressive macrocephaly (HP:0004481)

Term ID:

4481

Name:

Progressive macrocephaly

Synonym:

Macrocephaly, progressive; Progressively abnormally enlarging cranium; Progressively abnormally enlarging skull

Definition:

The progressive development of an abnormally large skull.

Comments:

Reference:

HP:0004481

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macrocephaly at birth (HP:0004488)

Postnatal macrocephaly (HP:0005490)

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:0004481	HP:0004481	Progressive macrocephaly	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0004481	HP:0004481	Progressive macrocephaly	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0004481	HP:0004481	Progressive macrocephaly	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.	188
HP:0004481	HP:0004481	Progressive macrocephaly	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0004481	HP:0004481	Progressive macrocephaly	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0004481	HP:0004481	Progressive macrocephaly	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.	27
HP:0004481	HP:0004481	Progressive macrocephaly	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0004481	HP:0004481	Progressive macrocephaly	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0004481	HP:0004481	Progressive macrocephaly	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948

Genes (7) :AKT1 GCDH GFAP HEXB NDUFS4 PIK3CA PTEN

Diseases (9) :OMIM:615109 ORPHA:25 OMIM:203450 ORPHA:363717 ORPHA:309155 OMIM:252010 OMIM:615108 OMIM:602501 OMIM:158350

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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