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

..Starting node
..Focal polymicrogyria (HP:0032471)

Term ID:

32471

Name:

Focal polymicrogyria

Synonym:

Definition:

Polymicrogyria affecting one or multiple small areas of the cerebral cortex.

Comments:

Reference:

HP:0032471

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032471	HP:0032471	Focal polymicrogyria	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0032471	HP:0032471	Focal polymicrogyria	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB	1
HP:0032471	HP:0032471	Focal polymicrogyria	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS	1
HP:0032471	HP:0032471	Focal polymicrogyria	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	14

Genes (4) :CILK1 KAT5 ODC1 TUBB

Diseases (4) :OMIM:612651 OMIM:619103 OMIM:619075 OMIM:615771

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