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 the orbital region (HP:0000315)

Grandparent Node:
obsolete Abnormal globe morphology (HP:0012374)

Parent Node:
Abnormality of globe location (HP:0100886)

..Starting node
..Cyclopia (HP:0009914)

Term ID:

9914

Name:

Cyclopia

Synonym:

Cyclops eye; Single central eye

Definition:

Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.

Comments:

Reference:

HP:0009914

Genes and Diseases:

Child Nodes:

Sister Nodes:

Deeply set eye (HP:0000490)

Hypertelorism (HP:0000316)

Hypotelorism (HP:0000601)

Proptosis (HP:0000520)

Vertical orbital dystopia (HP:0030867)

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:0009914	HP:0009914	Cyclopia	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0009914	HP:0009914	Cyclopia	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	200
HP:0009914	HP:0009914	Cyclopia	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0009914	HP:0009914	Cyclopia	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	200
HP:0009914	HP:0009914	Cyclopia	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0009914	HP:0009914	Cyclopia	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0009914	HP:0009914	Cyclopia	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	22
HP:0009914	HP:0009914	Cyclopia	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0009914	HP:0009914	Cyclopia	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	22
HP:0009914	HP:0009914	Cyclopia	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0009914	HP:0009914	Cyclopia	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0009914	HP:0009914	Cyclopia	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	3
HP:0009914	HP:0009914	Cyclopia	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0009914	HP:0009914	Cyclopia	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	3
HP:0009914	HP:0009914	Cyclopia	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0009914	HP:0009914	Cyclopia	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0009914	HP:0009914	Cyclopia	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	17
HP:0009914	HP:0009914	Cyclopia	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0009914	HP:0009914	Cyclopia	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	17
HP:0009914	HP:0009914	Cyclopia	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0009914	HP:0009914	Cyclopia	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	172
HP:0009914	HP:0009914	Cyclopia	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0009914	HP:0009914	Cyclopia	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0009914	HP:0009914	Cyclopia	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0009914	HP:0009914	Cyclopia	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	48
HP:0009914	HP:0009914	Cyclopia	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0009914	HP:0009914	Cyclopia	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	48
HP:0009914	HP:0009914	Cyclopia	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0009914	HP:0009914	Cyclopia	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0009914	HP:0009914	Cyclopia	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	2
HP:0009914	HP:0009914	Cyclopia	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0009914	HP:0009914	Cyclopia	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	2
HP:0009914	HP:0009914	Cyclopia	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0009914	HP:0009914	Cyclopia	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0009914	HP:0009914	Cyclopia	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	173
HP:0009914	HP:0009914	Cyclopia	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0009914	HP:0009914	Cyclopia	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	173
HP:0009914	HP:0009914	Cyclopia	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0009914	HP:0009914	Cyclopia	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0009914	HP:0009914	Cyclopia	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	45
HP:0009914	HP:0009914	Cyclopia	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0009914	HP:0009914	Cyclopia	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	45
HP:0009914	HP:0009914	Cyclopia	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0009914	HP:0009914	Cyclopia	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0009914	HP:0009914	Cyclopia	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0009914	HP:0009914	Cyclopia	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0009914	HP:0009914	Cyclopia	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0009914	HP:0009914	Cyclopia	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0009914	HP:0009914	Cyclopia	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	665
HP:0009914	HP:0009914	Cyclopia	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0009914	HP:0009914	Cyclopia	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	665
HP:0009914	HP:0009914	Cyclopia	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0009914	HP:0009914	Cyclopia	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0009914	HP:0009914	Cyclopia	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0009914	HP:0009914	Cyclopia	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	67
HP:0009914	HP:0009914	Cyclopia	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0009914	HP:0009914	Cyclopia	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	67
HP:0009914	HP:0009914	Cyclopia	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0009914	HP:0009914	Cyclopia	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor		67
HP:0009914	HP:0009914	Cyclopia	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0009914	HP:0009914	Cyclopia	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0009914	HP:0009914	Cyclopia	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	32
HP:0009914	HP:0009914	Cyclopia	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0009914	HP:0009914	Cyclopia	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0009914	HP:0009914	Cyclopia	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0009914	HP:0009914	Cyclopia	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	135
HP:0009914	HP:0009914	Cyclopia	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0009914	HP:0009914	Cyclopia	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0009914	HP:0009914	Cyclopia	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0009914	HP:0009914	Cyclopia	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0009914	HP:0009914	Cyclopia	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	99
HP:0009914	HP:0009914	Cyclopia	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	99
HP:0009914	HP:0009914	Cyclopia	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0009914	HP:0009914	Cyclopia	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0009914	HP:0009914	Cyclopia	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0009914	HP:0009914	Cyclopia	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	1
HP:0009914	HP:0009914	Cyclopia	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0009914	HP:0009914	Cyclopia	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	1
HP:0009914	HP:0009914	Cyclopia	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0009914	HP:0009914	Cyclopia	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0009914	HP:0009914	Cyclopia	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	32
HP:0009914	HP:0009914	Cyclopia	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0009914	HP:0009914	Cyclopia	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0009914	HP:0009914	Cyclopia	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0009914	HP:0009914	Cyclopia	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0009914	HP:0009914	Cyclopia	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	34
HP:0009914	HP:0009914	Cyclopia	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0009914	HP:0009914	Cyclopia	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	34
HP:0009914	HP:0009914	Cyclopia	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	34

Genes (22) :CDON DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2 NODAL OTX2 PLCH1 PRRX1 PTCH1 SHH SIX3 SMC1A STAG2 STIL SUFU TDGF1 TGIF1 ZIC2

Diseases (11) :ORPHA:93925 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:220386 ORPHA:990 OMIM:619895 OMIM:142945 OMIM:147250 OMIM:157170 OMIM:301043

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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