Human Phenotype Ontology

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 vermis morphology (HP:0002334)

Parent Node:
Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)

..Starting node
..Partial absence of cerebellar vermis (HP:0002951)

Term ID:

2951

Name:

Partial absence of cerebellar vermis

Synonym:

Definition:

Congenital absence of a part of the vermis of cerebellum.

Comments:

Reference:

HP:0002951

Genes and Diseases:

Child Nodes:

Sister Nodes:

Agenesis of cerebellar vermis (HP:0002335)

Aplasia of the inferior half of the cerebellar vermis (HP:0007063)

Cerebellar vermis hypoplasia (HP:0001320)

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:0002951	HP:0002951	Partial absence of cerebellar vermis	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent	55
HP:0002951	HP:0002951	Partial absence of cerebellar vermis	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0002951	HP:0002951	Partial absence of cerebellar vermis	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0002951	HP:0002951	Partial absence of cerebellar vermis	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002951	HP:0002951	Partial absence of cerebellar vermis	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221

Genes (5) :OPHN1 PACS1 PIGN PLCH1 POMT2

Diseases (5) :ORPHA:137831 ORPHA:329224 ORPHA:280633 OMIM:619895 OMIM:613150

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