Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Elongated superior cerebellar peduncle (HP:0011933)

Term ID:

11933

Name:

Elongated superior cerebellar peduncle

Synonym:

Elongated superior cerebellar peduncles; Long cerebellar peduncle; Long cerebellar peduncles

Definition:

Increased length of the superior cerebellar peduncle.

Comments:

Reference:

HP:0011933

Genes and Diseases:

Child Nodes:

Sister Nodes:

Atrophic superior cerebellar peduncle (HP:0030286)

Splayed superior cerebellar peduncle (HP:0030285)

Thickened superior cerebellar peduncle (HP:0002404)

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:0011933	HP:0011933	Elongated superior cerebellar peduncle	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0011933	HP:0011933	Elongated superior cerebellar peduncle	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0011933	HP:0011933	Elongated superior cerebellar peduncle	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0011933	HP:0011933	Elongated superior cerebellar peduncle	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0011933	HP:0011933	Elongated superior cerebellar peduncle	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	57
HP:0011933	HP:0011933	Elongated superior cerebellar peduncle	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0011933	HP:0011933	Elongated superior cerebellar peduncle	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	24
HP:0011933	HP:0011933	Elongated superior cerebellar peduncle	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent	35
HP:0011933	HP:0011933	Elongated superior cerebellar peduncle	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0011933	HP:0011933	Elongated superior cerebellar peduncle	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0011933	HP:0011933	Elongated superior cerebellar peduncle	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166

Genes (10) :AHI1 ARL3 CLCN3 CSPP1 INPP5E KIAA0586 LAMA1 NPHP1 TMEM216 TMEM67

Diseases (10) :OMIM:608629 OMIM:618161 OMIM:619512 OMIM:615636 ORPHA:397715 OMIM:213300 ORPHA:370022 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.

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