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 the periorbital region (HP:0000606)

Parent Node:
Abnormality of the supraorbital ridges (HP:0100538)

..Starting node
..Prominent supraorbital ridges (HP:0000336)

Term ID:

336

Name:

Prominent supraorbital ridges

Synonym:

Hyperplasia of supraorbital margins; Hyperplasia of supraorbital ridge; Hypertrophy of supraorbital margins; Hypertrophy of supraorbital ridge; Prominent brow; Prominent supraorbital margins; Prominent supraorbital ridge; Protruding supraorbital ridge; Supraorbital hyperostosis

Definition:

Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.

Comments:

Reference:

HP:0000336

Genes and Diseases:

Child Nodes:

........

Heavy supraorbital ridges (HP:0002054)

........

Prominent supraorbital arches in adult (HP:0004676)

Sister Nodes:

Underdeveloped supraorbital ridges (HP:0009891)

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:0000336	HP:0000336	Prominent supraorbital ridges	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45	.	8
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FGFR1 CL E G H	2260	3688	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent	172
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	HP:0040284 - Very rare	493
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent	493
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040281 - Very frequent	493
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040281 - Very frequent	493
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	FREM1 CL E G H	158326	23399	ORPHA:3366	Isolated trigonocephaly	HP:0040282 - Frequent	198
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	37
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	8
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040281 - Very frequent	11
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0000336	HP:0000336	Prominent 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:0000336	HP:0000336	Prominent supraorbital ridges	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040282 - Frequent	29
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.	23
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040283 - Occasional	43
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.	51
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type		58
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.	53
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.	34
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000336	HP:0000336	Prominent 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	HP:0040282 - Frequent	21
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0000336	HP:0000336	Prominent supraorbital ridges	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5
HP:0000336	HP:0002054	Heavy supraorbital ridges	1	CL E G H
HP:0000336	HP:0004676	Prominent supraorbital arches in adult	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58

Genes (49) :ABCC9 AGPAT2 AP1G1 ARX BSCL2 CAV1 CAVIN1 CHD8 COL11A2 EDA ERCC4 FBXO31 FGFR1 FHL1 FLNA FOS FREM1 GRIA3 HDAC8 IDS KCNJ8 LAS1L LBR LMBRD2 MAP2K2 MAP3K7 OPHN1 PAK3 PDGFRB PHF6 PHF8 PIK3R1 PITX2 POLR3A PPARG PRR12 PSMC3 PTH1R RBMX RPS6KA3 SEC23A SHANK3 SOST SP7 SUZ12 TAF1 TOE1 UBE2A ZSWIM6

Diseases (54) :ORPHA:1517 OMIM:619719 ORPHA:528 OMIM:619548 OMIM:300004 OMIM:615032 OMIM:215150 OMIM:305100 OMIM:610965 OMIM:615979 ORPHA:3366 OMIM:300280 OMIM:314400 ORPHA:1826 OMIM:305620 OMIM:309350 ORPHA:2484 ORPHA:90650 ORPHA:90652 OMIM:311300 OMIM:300699 ORPHA:364028 ORPHA:3459 ORPHA:217093 ORPHA:217085 OMIM:215140 OMIM:619694 OMIM:615280 OMIM:617137 OMIM:300486 OMIM:300558 OMIM:616592 ORPHA:127 OMIM:301900 OMIM:300263 ORPHA:3163 OMIM:180500 OMIM:264090 OMIM:619539 OMIM:619354 OMIM:156400 OMIM:300238 OMIM:303600 OMIM:607812 ORPHA:50814 OMIM:606232 OMIM:269500 OMIM:613849 OMIM:618786 OMIM:300966 ORPHA:480907 OMIM:614969 OMIM:300860 OMIM:617865

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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