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 cerebellar peduncle morphology (HP:0011931)

Grandparent Node:
Abnormal pons morphology (HP:0007361)

Parent Node:
Abnormal superior cerebellar peduncle morphology (HP:0011932)

..Starting node
..Thickened superior cerebellar peduncle (HP:0002404)

Term ID:

2404

Name:

Thickened superior cerebellar peduncle

Synonym:

Thick cerebellar peduncles

Definition:

Increased width of the superior cerebellar peduncle.

Comments:

Reference:

HP:0002404

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrophic superior cerebellar peduncle (HP:0030286)

Elongated superior cerebellar peduncle (HP:0011933)

Splayed superior cerebellar peduncle (HP:0030285)

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:0002404	HP:0002404	Thickened superior cerebellar peduncle	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0002404	HP:0002404	Thickened superior cerebellar peduncle	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0002404	HP:0002404	Thickened superior cerebellar peduncle	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0002404	HP:0002404	Thickened superior cerebellar peduncle	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166

Genes (4) :CEP290 NPHP1 TMEM216 TMEM67

Diseases (4) :OMIM:610188 OMIM:609583 OMIM:608091 OMIM:610688

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