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 dura mater morphology (HP:0010652)

Parent Node:
Abnormality of the falx cerebri (HP:0010653)

..Starting node
..Aplasia of the falx cerebri (HP:0010654)

Term ID:

10654

Name:

Aplasia of the falx cerebri

Synonym:

Absent cerebral falx

Definition:

A developmental defect characterized by aplasia of the Falx cerebri.

Comments:

Reference:

HP:0010654

Genes and Diseases:

Child Nodes:

Sister Nodes:

Calcification of falx cerebri (HP:0005462)

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:0010654	HP:0010654	Aplasia of the falx cerebri	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	665
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	67
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	135
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	99
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	1
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	34
HP:0010654	HP:0010654	Aplasia of the falx cerebri	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	34

Genes (20) :ATN1 CDON DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2 NODAL PLCH1 PTCH1 SHH SIX3 SMC1A STAG2 STIL TDGF1 TGIF1 ZIC2

Diseases (5) :OMIM:618494 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386

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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