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:
Abnormality of cranial sutures (HP:0011329)

Grandparent Node:
Abnormality of the forehead (HP:0000290)

Parent Node:
Abnormality of the metopic suture (HP:0005556)

..Starting node
..Prominent metopic ridge (HP:0005487)

Term ID:

5487

Name:

Prominent metopic ridge

Synonym:

Prominent frontal ridge; Prominent frontal suture; Prominent metopic suture; Ridging of frontal suture; Ridging of metopic suture

Definition:

Vertical bony ridge positioned in the midline of the forehead.

Comments:

Reference:

HP:0005487

Genes and Diseases:

Child Nodes:

Sister Nodes:

Metopic depression (HP:0011223)

Metopic suture patent to nasal root (HP:0005495)

Metopic synostosis (HP:0011330)

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:0005487	HP:0005487	Prominent metopic ridge	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	245
HP:0005487	HP:0005487	Prominent metopic ridge	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0005487	HP:0005487	Prominent metopic ridge	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0005487	HP:0005487	Prominent metopic ridge	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0005487	HP:0005487	Prominent metopic ridge	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0005487	HP:0005487	Prominent metopic ridge	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0005487	HP:0005487	Prominent metopic ridge	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0005487	HP:0005487	Prominent metopic ridge	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent	118
HP:0005487	HP:0005487	Prominent metopic ridge	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0005487	HP:0005487	Prominent metopic ridge	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0005487	HP:0005487	Prominent metopic ridge	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0005487	HP:0005487	Prominent metopic ridge	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0005487	HP:0005487	Prominent metopic ridge	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0005487	HP:0005487	Prominent metopic ridge	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0005487	HP:0005487	Prominent metopic ridge	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0005487	HP:0005487	Prominent metopic ridge	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0005487	HP:0005487	Prominent metopic ridge	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0005487	HP:0005487	Prominent metopic ridge	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0005487	HP:0005487	Prominent metopic ridge	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0005487	HP:0005487	Prominent metopic ridge	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0005487	HP:0005487	Prominent metopic ridge	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0005487	HP:0005487	Prominent metopic ridge	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	237
HP:0005487	HP:0005487	Prominent metopic ridge	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0005487	HP:0005487	Prominent metopic ridge	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0005487	HP:0005487	Prominent metopic ridge	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0005487	HP:0005487	Prominent metopic ridge	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0005487	HP:0005487	Prominent metopic ridge	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0005487	HP:0005487	Prominent metopic ridge	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0005487	HP:0005487	Prominent metopic ridge	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0005487	HP:0005487	Prominent metopic ridge	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional	39
HP:0005487	HP:0005487	Prominent metopic ridge	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0005487	HP:0005487	Prominent metopic ridge	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0005487	HP:0005487	Prominent metopic ridge	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0005487	HP:0005487	Prominent metopic ridge	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	62
HP:0005487	HP:0005487	Prominent metopic ridge	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0005487	HP:0005487	Prominent metopic ridge	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0005487	HP:0005487	Prominent metopic ridge	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	127
HP:0005487	HP:0005487	Prominent metopic ridge	0	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2		127
HP:0005487	HP:0005487	Prominent metopic ridge	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0005487	HP:0005487	Prominent metopic ridge	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0005487	HP:0005487	Prominent metopic ridge	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0005487	HP:0005487	Prominent metopic ridge	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0005487	HP:0005487	Prominent metopic ridge	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0005487	HP:0005487	Prominent metopic ridge	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	165
HP:0005487	HP:0005487	Prominent metopic ridge	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0005487	HP:0005487	Prominent metopic ridge	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0005487	HP:0005487	Prominent metopic ridge	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0005487	HP:0005487	Prominent metopic ridge	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0005487	HP:0005487	Prominent metopic ridge	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0005487	HP:0005487	Prominent metopic ridge	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	34
HP:0005487	HP:0005487	Prominent metopic ridge	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0005487	HP:0005487	Prominent metopic ridge	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0005487	HP:0005487	Prominent metopic ridge	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0005487	HP:0005487	Prominent metopic ridge	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	30
HP:0005487	HP:0005487	Prominent metopic ridge	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0005487	HP:0005487	Prominent metopic ridge	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0005487	HP:0005487	Prominent metopic ridge	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent	53
HP:0005487	HP:0005487	Prominent metopic ridge	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0005487	HP:0005487	Prominent metopic ridge	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0005487	HP:0005487	Prominent metopic ridge	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0005487	HP:0005487	Prominent metopic ridge	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0005487	HP:0005487	Prominent metopic ridge	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0005487	HP:0005487	Prominent metopic ridge	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0005487	HP:0005487	Prominent metopic ridge	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	110
HP:0005487	HP:0005487	Prominent metopic ridge	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	237
HP:0005487	HP:0005487	Prominent metopic ridge	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0005487	HP:0005487	Prominent metopic ridge	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0005487	HP:0005487	Prominent metopic ridge	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0005487	HP:0005487	Prominent metopic ridge	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0005487	HP:0005487	Prominent metopic ridge	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0005487	HP:0005487	Prominent metopic ridge	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4

Genes (64) :ABCC8 ACTB ACTG1 ADAMTSL1 ADARB1 ADSL ALG9 ASXL1 CDC6 CDKN1C CLCN3 COL25A1 ERCC1 ERCC2 ERCC5 ERCC6 ERMARD FOXG1 GCK GJA5 GJA8 GNPTAB H19-ICR H3-3B HNRNPK HNRNPU IFT140 IGF2 IL11RA INS INTU KANSL1 KCNJ11 KCNQ1 KCNQ1OT1 KDM4B KDM5B LMX1B MAF MAP1B MAPK1 MID1 NAA10 NARS2 NOTCH3 NSRP1 NUP188 PDX1 PPP2R1A PURA RNU4ATAC RTTN SC5D SMARCD1 SMG9 SRCAP STAT3 STXBP1 TBCK TOGARAM1 TWIST1 ZFHX4 ZNF292 ZNF462

Diseases (53) :ORPHA:79134 ORPHA:99885 ORPHA:2995 ORPHA:521445 OMIM:618862 OMIM:103050 ORPHA:46 ORPHA:79328 OMIM:605039 ORPHA:97297 OMIM:613805 OMIM:130650 OMIM:619512 ORPHA:91411 ORPHA:1466 ORPHA:75857 ORPHA:261144 OMIM:612474 ORPHA:576 OMIM:619721 ORPHA:352665 ORPHA:453504 ORPHA:238769 OMIM:266920 OMIM:614188 OMIM:617926 OMIM:610443 OMIM:618856 OMIM:619320 OMIM:618109 ORPHA:495818 ORPHA:1272 OMIM:618918 OMIM:619087 ORPHA:2745 OMIM:300855 ORPHA:2789 OMIM:620001 OMIM:618804 OMIM:616362 ORPHA:457284 ORPHA:314655 OMIM:210710 ORPHA:468631 ORPHA:46059 OMIM:618779 OMIM:616920 OMIM:136140 ORPHA:488632 OMIM:619185 OMIM:617746 OMIM:619188 OMIM:618619

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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