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 forebrain morphology (HP:0100547)

Parent Node:
Abnormality of olfactory lobe morphology (HP:0025057)

..Starting node
..Olfactory lobe agenesis (HP:0001341)

Term ID:

1341

Name:

Olfactory lobe agenesis

Synonym:

Olfactory lobe absence

Definition:

Comments:

Reference:

HP:0001341

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic olfactory lobes (HP:0006894)

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:0001341	HP:0001341	Olfactory lobe agenesis	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0001341	HP:0001341	Olfactory lobe agenesis	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	67
HP:0001341	HP:0001341	Olfactory lobe agenesis	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	55
HP:0001341	HP:0001341	Olfactory lobe agenesis	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	91
HP:0001341	HP:0001341	Olfactory lobe agenesis	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0001341	HP:0001341	Olfactory lobe agenesis	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0001341	HP:0001341	Olfactory lobe agenesis	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	61

Genes (7) :ANOS1 EDN3 EDNRB MITF MKS1 PIGA SOX10

Diseases (4) :OMIM:308700 ORPHA:897 OMIM:249000 OMIM:300868

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