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

..Starting node
..Aplasia of the olfactory bulb (HP:0032466)

Term ID:

32466

Name:

Aplasia of the olfactory bulb

Synonym:

Aplastic olfactory bulb; Olfactory bulb aplasia

Definition:

Lack of formation (congenital absence) of the olfactory bulb.

Comments:

Reference:

HP:0032466

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032466	HP:0032466	Aplasia of the olfactory bulb	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0032466	HP:0032466	Aplasia of the olfactory bulb	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	12
HP:0032466	HP:0032466	Aplasia of the olfactory bulb	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	172
HP:0032466	HP:0032466	Aplasia of the olfactory bulb	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	9
HP:0032466	HP:0032466	Aplasia of the olfactory bulb	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	34
HP:0032466	HP:0032466	Aplasia of the olfactory bulb	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia	14

Genes (6) :CILK1 ERBB3 FGFR1 PROK2 PROKR2 SEMA3A

Diseases (6) :OMIM:612651 OMIM:243180 OMIM:147950 OMIM:610628 OMIM:244200 OMIM:614897

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