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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormal meningeal morphology (HP:0010651)

..Starting node
..Abnormal dura mater morphology (HP:0010652)

Term ID:

10652

Name:

Abnormal dura mater morphology

Synonym:

Abnormality of the dura mater

Definition:

An abnormality of the Dura mater.

Comments:

Reference:

HP:0010652

Genes and Diseases:

Child Nodes:

........

Abnormality of the spinal dura mater (HP:0009744)

........

Abnormality of the falx cerebri (HP:0010653)

................... HP:0005462 Calcification of falx cerebri
................... HP:0010654 Aplasia of the falx cerebri

Sister Nodes:

Abnormal arachnoid mater morphology (HP:0100700)

Abnormal pia mater (HP:0100701)

Abnormal spinal meningeal morphology (HP:0010303)

Meningeal calcification (HP:0100250)

Meningocele (HP:0002435)

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:0010652	HP:0010652	Abnormal dura mater morphology	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste		415
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0010652	HP:0010652	Abnormal dura mater morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0010652	HP:0009744	Abnormal spinal dura mater morphology	1	CL E G H
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste		415
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0010652	HP:0010653	Abnormality of the falx cerebri	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0010652	HP:0005462	Calcification of falx cerebri	2	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	200
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	200
HP:0010652	HP:0005462	Calcification of falx cerebri	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0010652	HP:0005462	Calcification of falx cerebri	2	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	22
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	22
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	3
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	3
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	17
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	17
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	172
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	48
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	48
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	2
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	2
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	173
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	173
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	45
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	45
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0010652	HP:0005462	Calcification of falx cerebri	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	665
HP:0010652	HP:0005462	Calcification of falx cerebri	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	665
HP:0010652	HP:0005462	Calcification of falx cerebri	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	67
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	67
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	135
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	99
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	99
HP:0010652	HP:0005462	Calcification of falx cerebri	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	1
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	1
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	32
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	32
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent	34
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent	34
HP:0010652	HP:0010654	Aplasia of the falx cerebri	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent	34

Genes (26) :ABCC6 ATN1 CDON COL11A1 DDR2 DISP1 DLL1 FGF8 FGFR1 FOXH1 GAS1 GLI2 NDE1 NODAL PLCH1 PTCH1 PTCH2 SHH SIX3 SMC1A STAG2 STIL SUFU TDGF1 TGIF1 ZIC2

Diseases (11) :OMIM:177850 OMIM:618494 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:154780 OMIM:271665 ORPHA:2177 OMIM:109400 ORPHA:77301

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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