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:
Aplasia/Hypoplasia of the cerebellum (HP:0007360)

Parent Node:
Cerebellar hypoplasia (HP:0001321)

..Starting node
..Cerebellar hemisphere hypoplasia (HP:0100307)

Term ID:

100307

Name:

Cerebellar hemisphere hypoplasia

Synonym:

Definition:

Comments:

Reference:

HP:0100307

Genes and Diseases:

Child Nodes:

Sister Nodes:

Olivopontocerebellar hypoplasia (HP:0006955)

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:0100307	HP:0100307	Cerebellar hemisphere hypoplasia	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0100307	HP:0100307	Cerebellar hemisphere hypoplasia	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0100307	HP:0100307	Cerebellar hemisphere hypoplasia	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0100307	HP:0100307	Cerebellar hemisphere hypoplasia	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0100307	HP:0100307	Cerebellar hemisphere hypoplasia	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent	6
HP:0100307	HP:0100307	Cerebellar hemisphere hypoplasia	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0100307	HP:0100307	Cerebellar hemisphere hypoplasia	0	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C		57
HP:0100307	HP:0100307	Cerebellar hemisphere hypoplasia	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive		60

Genes (8) :B4GAT1 LAMB1 MACF1 PRDM13 PTRH2 SON TSEN34 ZNF335

Diseases (8) :OMIM:615287 OMIM:615191 OMIM:618325 OMIM:619909 ORPHA:456312 ORPHA:500150 OMIM:612390 OMIM:615095

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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