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 cerebellum morphology (HP:0001317)

Parent Node:
Abnormal brainstem white matter morphology (HP:0012501)

Parent Node:
Cerebellar malformation (HP:0002438)

..Starting node
..Abnormal cerebellar peduncle morphology (HP:0011931)

Term ID:

11931

Name:

Abnormal cerebellar peduncle morphology

Synonym:

Abnormality of the cerebellar peduncle

Definition:

An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.

Comments:

Reference:

HP:0011931

Genes and Diseases:

Child Nodes:

........

Abnormality of the superior cerebellar peduncle (HP:0011932)

................... HP:0002404 Thickened superior cerebellar peduncle
................... HP:0011933 Elongated superior cerebellar peduncle
................... HP:0030285 Splayed superior cerebellar peduncle
................... HP:0030286 Atrophic superior cerebellar peduncle

Sister Nodes:

Abnormal cerebellar vermis morphology (HP:0002334)

Cerebellar cyst (HP:0002350)

Chiari malformation (HP:0002308)

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:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent	44
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0011931	HP:0011931	Abnormal cerebellar peduncle morphology	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040284 - Very rare	8
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0011931	HP:0011932	Abnormal superior cerebellar peduncle morphology	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0011931	HP:0030286	Atrophic superior cerebellar peduncle	2	CL E G H
HP:0011931	HP:0030285	Splayed superior cerebellar peduncle	2	CL E G H
HP:0011931	HP:0011933	Elongated superior cerebellar peduncle	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0011931	HP:0011933	Elongated superior cerebellar peduncle	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0011931	HP:0002404	Thickened superior cerebellar peduncle	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0011931	HP:0011933	Elongated superior cerebellar peduncle	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0011931	HP:0011933	Elongated superior cerebellar peduncle	2	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0011931	HP:0011933	Elongated superior cerebellar peduncle	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	57
HP:0011931	HP:0011933	Elongated superior cerebellar peduncle	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0011931	HP:0011933	Elongated superior cerebellar peduncle	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	24
HP:0011931	HP:0011933	Elongated superior cerebellar peduncle	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent	35
HP:0011931	HP:0002404	Thickened superior cerebellar peduncle	2	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0011931	HP:0011933	Elongated superior cerebellar peduncle	2	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0011931	HP:0011933	Elongated superior cerebellar peduncle	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0011931	HP:0002404	Thickened superior cerebellar peduncle	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0011931	HP:0002404	Thickened superior cerebellar peduncle	2	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166
HP:0011931	HP:0011933	Elongated superior cerebellar peduncle	2	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166

Genes (15) :AHI1 ARL3 CEP290 CLCN3 CSPP1 CYP27A1 FLI1 INPP5E KIAA0586 LAMA1 LMNB1 NPHP1 SACS TMEM216 TMEM67

Diseases (15) :OMIM:608629 OMIM:618161 OMIM:610188 OMIM:619512 OMIM:615636 ORPHA:397715 ORPHA:909 ORPHA:370348 OMIM:213300 ORPHA:370022 ORPHA:99027 OMIM:609583 ORPHA:98 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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