Human Phenotype Ontology

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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:
Abnormality of brain morphology (HP:0012443)

Parent Node:
Abnormal forebrain morphology (HP:0100547)

..Starting node
..Abnormal morphology of the olfactory bulb (HP:0040327)

Term ID:

40327

Name:

Abnormal morphology of the olfactory bulb

Synonym:

Definition:

An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.

Comments:

Reference:

HP:0040327

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the olfactory bulb (HP:0040326)

Sister Nodes:

Abnormal cerebral morphology (HP:0002060)

Abnormal morphology of the limbic system (HP:0007343)

Abnormality of olfactory lobe morphology (HP:0025057)

Abnormality of the diencephalon (HP:0010662)

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:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia		172
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia		9
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	665
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	67
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	135
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	99
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	1
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	34
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0040327	HP:0040327	Abnormal morphology of the olfactory bulb	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0040327	HP:0032466	Aplasia of the olfactory bulb	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0040327	HP:0032466	Aplasia of the olfactory bulb	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0040327	HP:0032466	Aplasia of the olfactory bulb	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia		172
HP:0040327	HP:0040326	Hypoplasia of the olfactory bulb	1	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0040327	HP:0040326	Hypoplasia of the olfactory bulb	1	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0040327	HP:0032466	Aplasia of the olfactory bulb	1	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia		9
HP:0040327	HP:0032466	Aplasia of the olfactory bulb	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia		34
HP:0040327	HP:0040326	Hypoplasia of the olfactory bulb	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0040327	HP:0032466	Aplasia of the olfactory bulb	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0040327	HP:0040326	Hypoplasia of the olfactory bulb	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	174
HP:0040327	HP:0040326	Hypoplasia of the olfactory bulb	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0040327	HP:0040326	Hypoplasia of the olfactory bulb	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040282 - Frequent	5

Genes (31) :CDON CILK1 DISP1 DLL1 ERBB3 FGF8 FGFR1 FOXH1 GAS1 GLI2 GSX2 NODAL PLCH1 POU3F3 PROK2 PROKR2 PTCH1 SEMA3A SHH SIX3 SMC1A SMCHD1 STAG2 STIL TDGF1 TGIF1 TUBA1A TUBB2B TUBB3 ZIC2 ZSWIM6

Diseases (16) :ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:612651 OMIM:243180 OMIM:147950 OMIM:618646 OMIM:618604 OMIM:610628 OMIM:244200 OMIM:614897 ORPHA:2250 ORPHA:467166 ORPHA:300570 ORPHA:1827

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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