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 brainstem morphology (HP:0002363)

Grandparent Node:
Abnormal metencephalon morphology (HP:0011283)

Parent Node:
Abnormal cerebellar peduncle morphology (HP:0011931)

Parent Node:
Abnormal pons morphology (HP:0007361)

..Starting node
..Abnormal superior cerebellar peduncle morphology (HP:0011932)

Term ID:

11932

Name:

Abnormal superior cerebellar peduncle morphology

Synonym:

Abnormality of the superior cerebellar peduncle

Definition:

An anomaly of the superior cerebellar peduncle.

Comments:

Reference:

HP:0011932

Genes and Diseases:

Child Nodes:

........

Thickened superior cerebellar peduncle (HP:0002404)

........

Elongated superior cerebellar peduncle (HP:0011933)

........

Splayed superior cerebellar peduncle (HP:0030285)

........

Atrophic superior cerebellar peduncle (HP:0030286)

Sister Nodes:

Hypoplasia of the pons (HP:0012110)

Hypoplasia of the ventral pons (HP:0006850)

Pontine tegmental cap (HP:0030975)

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

Genes (12) :AHI1 ARL3 CEP290 CLCN3 CSPP1 FLI1 INPP5E KIAA0586 LAMA1 NPHP1 TMEM216 TMEM67

Diseases (12) :OMIM:608629 OMIM:618161 OMIM:610188 OMIM:619512 OMIM:615636 ORPHA:397715 ORPHA:370348 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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