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:
Abnormal cerebral white matter morphology (HP:0002500)

Parent Node:
Abnormality of the anterior commissure (HP:0030301)

..Starting node
..Hypoplastic anterior commissure (HP:0030303)

Term ID:

30303

Name:

Hypoplastic anterior commissure

Synonym:

Definition:

Underdevelopment of the anterior commissure.

Comments:

Reference:

HP:0030303

Genes and Diseases:

Child Nodes:

Sister Nodes:

Agenesis of the anterior commissure (HP:0030302)

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:0030303	HP:0030303	Hypoplastic anterior commissure	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0030303	HP:0030303	Hypoplastic anterior commissure	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0030303	HP:0030303	Hypoplastic anterior commissure	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement		64
HP:0030303	HP:0030303	Hypoplastic anterior commissure	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362

Genes (4) :MACF1 RERE TUBB3 ZEB2

Diseases (4) :OMIM:618325 OMIM:616975 OMIM:600638 ORPHA:261552

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