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:
Aplasia/Hypoplasia of the corpus callosum (HP:0007370)

Parent Node:
Hypoplasia of the corpus callosum (HP:0002079)

..Starting node
..Hypodysplasia of the corpus callosum (HP:0006849)

Term ID:

6849

Name:

Hypodysplasia of the corpus callosum

Synonym:

Definition:

Developmental defect characterized by a small and malformed corpus callosum.

Comments:

Reference:

HP:0006849

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006849	HP:0006849	Hypodysplasia of the corpus callosum	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76

Genes (1) :BUB1B

Diseases (1) :OMIM:257300

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