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:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy		85
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia		166
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy		105
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy		11
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy		48
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot		5
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly		172
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome		175
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly		145
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked		493
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome		493
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1		493
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot		90
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly		198
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot		87
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot		10
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot		37
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot		28
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome		98
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot		39
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome		37
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot		257
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot		40
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome		46
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome		8
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot		90
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot		3
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome		28
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome		169
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome		75
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome		4
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome		65
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome		66
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome		46
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome		59
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome		62
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome		82
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome		106
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome		47
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome		99
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome		98
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome		29
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome		23
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome		43
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy		42
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures		6
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type		58
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia		2
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		21
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot		32
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly		28
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome		158
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly		18
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot		31
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly		5
HP:0100538	HP:0100538	Abnormality of the supraorbital ridges	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features		5
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	5
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45	.	8
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent	172
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040282 - Frequent	175
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	145
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	HP:0040284 - Very rare	493
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent	493
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040281 - Very frequent	493
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent	493
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent	198
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	87
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	10
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	37
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	28
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040282 - Frequent	98
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	39
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional	200
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional	88
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	37
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	257
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	40
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	8
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent	88
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent	11
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	3
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent	84
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	169
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	75
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	4
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	65
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	66
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	46
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	59
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	62
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	82
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	106
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	47
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	99
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	98
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040282 - Frequent	29
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.	23
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040283 - Occasional	43
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type		58
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent	16
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.	53
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.	34
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040282 - Frequent	21
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	32
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	28
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	18
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	31
HP:0100538	HP:0009891	Underdeveloped supraorbital ridges	1	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	5
HP:0100538	HP:0000336	Prominent supraorbital ridges	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5
HP:0100538	HP:0002054	Heavy supraorbital ridges	2	CL E G H
HP:0100538	HP:0004676	Prominent supraorbital arches in adult	2	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58