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 cerebral cortex morphology (HP:0002538)

Grandparent Node:
Abnormality of neuronal migration (HP:0002269)

Parent Node:
Abnormal cortical gyration (HP:0002536)

..Starting node
..Macrogyria (HP:0007227)

Term ID:

7227

Name:

Macrogyria

Synonym:

Definition:

Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum.

Comments:

Reference:

HP:0007227

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lissencephaly (HP:0001339)

Polymicrogyria (HP:0002126)

Simplified gyral pattern (HP:0009879)

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:0007227	HP:0007227	Macrogyria	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0007227	HP:0007227	Macrogyria	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0007227	HP:0007227	Macrogyria	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0007227	HP:0007227	Macrogyria	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0007227	HP:0007227	Macrogyria	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	HP:0040283 - Occasional	118
HP:0007227	HP:0007227	Macrogyria	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0007227	HP:0007227	Macrogyria	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0007227	HP:0007227	Macrogyria	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0007227	HP:0007227	Macrogyria	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0007227	HP:0007227	Macrogyria	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	157
HP:0007227	HP:0007227	Macrogyria	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	184
HP:0007227	HP:0007227	Macrogyria	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	136
HP:0007227	HP:0007227	Macrogyria	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0007227	HP:0007227	Macrogyria	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0007227	HP:0007227	Macrogyria	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent	60
HP:0007227	HP:0007227	Macrogyria	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	180
HP:0007227	HP:0007227	Macrogyria	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	33
HP:0007227	HP:0007227	Macrogyria	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	18
HP:0007227	HP:0007227	Macrogyria	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	213
HP:0007227	HP:0007227	Macrogyria	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	221
HP:0007227	HP:0007227	Macrogyria	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent

Genes (21) :ACTB ACTG1 B3GALNT2 B4GAT1 CASK COL4A1 CRPPA DAG1 DHCR24 FKRP FKTN LARGE1 NFIX PEX2 PLP1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1

Diseases (7) :ORPHA:2995 ORPHA:899 OMIM:300749 ORPHA:35107 OMIM:602535 OMIM:614866 ORPHA:280210

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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