Human Phenotype Ontology

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:0005556	HP:0005556	Abnormality of the metopic suture	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome		245
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		245
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency		118
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome		20
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome		106
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome		83
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome		199
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion		177
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	FREM1 CL E G H	158326	23399	OMIM:614485	Trigonocephaly 2		198
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		237
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome		39
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		62
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome		127
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2		127
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		127
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		165
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome		34
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		30
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		53
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis		80
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia		2
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		110
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome		237
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0005556	HP:0005556	Abnormality of the metopic suture	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0005556	HP:0005487	Prominent metopic ridge	1	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	245
HP:0005556	HP:0005487	Prominent metopic ridge	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0005556	HP:0005487	Prominent metopic ridge	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0005556	HP:0005487	Prominent metopic ridge	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0005556	HP:0005487	Prominent metopic ridge	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0005556	HP:0005487	Prominent metopic ridge	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0005556	HP:0005487	Prominent metopic ridge	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0005556	HP:0005487	Prominent metopic ridge	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent	118
HP:0005556	HP:0005487	Prominent metopic ridge	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0005556	HP:0005487	Prominent metopic ridge	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0005556	HP:0005487	Prominent metopic ridge	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0005556	HP:0011330	Metopic synostosis	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0005556	HP:0005487	Prominent metopic ridge	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0005556	HP:0011330	Metopic synostosis	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0005556	HP:0005487	Prominent metopic ridge	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0005556	HP:0005487	Prominent metopic ridge	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0005556	HP:0005487	Prominent metopic ridge	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0005556	HP:0011330	Metopic synostosis	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0005556	HP:0005487	Prominent metopic ridge	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0005556	HP:0005487	Prominent metopic ridge	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0005556	HP:0005487	Prominent metopic ridge	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0005556	HP:0005487	Prominent metopic ridge	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0005556	HP:0011330	Metopic synostosis	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0005556	HP:0005487	Prominent metopic ridge	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0005556	HP:0011330	Metopic synostosis	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0005556	HP:0011223	Metopic depression	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0005556	HP:0005487	Prominent metopic ridge	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent	177
HP:0005556	HP:0011330	Metopic synostosis	1	FREM1 CL E G H	158326	23399	OMIM:614485	Trigonocephaly 2	.	198
HP:0005556	HP:0005487	Prominent metopic ridge	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	237
HP:0005556	HP:0005487	Prominent metopic ridge	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0005556	HP:0005487	Prominent metopic ridge	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0005556	HP:0011330	Metopic synostosis	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional	270
HP:0005556	HP:0005487	Prominent metopic ridge	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0005556	HP:0011330	Metopic synostosis	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0005556	HP:0011330	Metopic synostosis	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0005556	HP:0005487	Prominent metopic ridge	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0005556	HP:0005487	Prominent metopic ridge	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0005556	HP:0011330	Metopic synostosis	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0005556	HP:0011330	Metopic synostosis	1	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:0005556	HP:0005487	Prominent metopic ridge	1	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:0005556	HP:0005487	Prominent metopic ridge	1	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:0005556	HP:0011330	Metopic synostosis	1	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:0005556	HP:0005487	Prominent metopic ridge	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional	39
HP:0005556	HP:0005487	Prominent metopic ridge	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0005556	HP:0005487	Prominent metopic ridge	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0005556	HP:0005487	Prominent metopic ridge	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0005556	HP:0011330	Metopic synostosis	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0005556	HP:0005487	Prominent metopic ridge	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	62
HP:0005556	HP:0005487	Prominent metopic ridge	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0005556	HP:0005487	Prominent metopic ridge	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0005556	HP:0005487	Prominent metopic ridge	1	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	127
HP:0005556	HP:0005487	Prominent metopic ridge	1	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2		127
HP:0005556	HP:0005487	Prominent metopic ridge	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0005556	HP:0005487	Prominent metopic ridge	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0005556	HP:0005487	Prominent metopic ridge	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0005556	HP:0005487	Prominent metopic ridge	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0005556	HP:0005487	Prominent metopic ridge	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0005556	HP:0005487	Prominent metopic ridge	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	165
HP:0005556	HP:0005487	Prominent metopic ridge	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0005556	HP:0005487	Prominent metopic ridge	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0005556	HP:0005487	Prominent metopic ridge	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0005556	HP:0005487	Prominent metopic ridge	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0005556	HP:0005487	Prominent metopic ridge	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0005556	HP:0005487	Prominent metopic ridge	1	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	34
HP:0005556	HP:0005487	Prominent metopic ridge	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent	144
HP:0005556	HP:0005487	Prominent metopic ridge	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0005556	HP:0005487	Prominent metopic ridge	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0005556	HP:0011330	Metopic synostosis	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0005556	HP:0011330	Metopic synostosis	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0005556	HP:0005487	Prominent metopic ridge	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	30
HP:0005556	HP:0011330	Metopic synostosis	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0005556	HP:0011330	Metopic synostosis	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0005556	HP:0011330	Metopic synostosis	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0005556	HP:0005487	Prominent metopic ridge	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0005556	HP:0005487	Prominent metopic ridge	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0005556	HP:0011330	Metopic synostosis	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0005556	HP:0005487	Prominent metopic ridge	1	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:0005556	HP:0005487	Prominent metopic ridge	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0005556	HP:0005487	Prominent metopic ridge	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0005556	HP:0005487	Prominent metopic ridge	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0005556	HP:0005495	Metopic suture patent to nasal root	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0005556	HP:0011330	Metopic synostosis	1	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2
HP:0005556	HP:0005487	Prominent metopic ridge	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0005556	HP:0005487	Prominent metopic ridge	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0005556	HP:0011330	Metopic synostosis	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0005556	HP:0005487	Prominent metopic ridge	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0005556	HP:0005487	Prominent metopic ridge	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	110
HP:0005556	HP:0005487	Prominent metopic ridge	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent	237
HP:0005556	HP:0005487	Prominent metopic ridge	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0005556	HP:0011330	Metopic synostosis	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0005556	HP:0005487	Prominent metopic ridge	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0005556	HP:0005487	Prominent metopic ridge	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0005556	HP:0011330	Metopic synostosis	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0005556	HP:0005487	Prominent metopic ridge	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0005556	HP:0005487	Prominent metopic ridge	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0005556	HP:0005487	Prominent metopic ridge	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4