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 cerebellar vermis morphology (HP:0002334)

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

..Starting node
..Agenesis of cerebellar vermis (HP:0002335)

Term ID:

2335

Name:

Agenesis of cerebellar vermis

Synonym:

Cerebellar vermis aplasia; Vermian agenesis

Definition:

Congenital absence of the vermis of cerebellum.

Comments:

Reference:

HP:0002335

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Cerebellar vermis hypoplasia (HP:0001320)

Partial absence of cerebellar vermis (HP:0002951)

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:0002335	HP:0002335	Agenesis of cerebellar vermis	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent	132
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional	132
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria	.	150
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0002335	HP:0002335	Agenesis of cerebellar vermis	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362

Genes (14) :ALX4 B4GAT1 CEP290 FKRP INPP5E MEF2C MVK PDE6D PTF1A RNU4ATAC TCTN3 TFAP2A TMEM216 ZEB2

Diseases (17) :OMIM:613451 ORPHA:228390 OMIM:615287 OMIM:610188 OMIM:611134 OMIM:613153 OMIM:213300 ORPHA:228384 OMIM:610377 OMIM:615665 OMIM:609069 OMIM:210710 OMIM:614815 OMIM:113620 OMIM:608091 ORPHA:261552 ORPHA:261537

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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