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 corpus callosum morphology (HP:0001273)

Parent Node:
Abnormal length of corpus callosum (HP:0200011)

..Starting node
..Short corpus callosum (HP:0200012)

Term ID:

200012

Name:

Short corpus callosum

Synonym:

Definition:

Comments:

Reference:

HP:0200012

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:0200012	HP:0200012	Short corpus callosum	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent	5
HP:0200012	HP:0200012	Short corpus callosum	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent	8
HP:0200012	HP:0200012	Short corpus callosum	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0200012	HP:0200012	Short corpus callosum	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0200012	HP:0200012	Short corpus callosum	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0200012	HP:0200012	Short corpus callosum	0	TAF8 CL E G H	129685	17300	OMIM:619972

Genes (6) :AHSG ITGB6 LSS PDHB SLC35A2 TAF8

Diseases (4) :ORPHA:2850 ORPHA:255138 ORPHA:356961 OMIM:619972

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