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:
Abnormality of the periorbital region (HP:0000606)

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

..Starting node
..Underdeveloped supraorbital ridges (HP:0009891)

Term ID:

9891

Name:

Underdeveloped supraorbital ridges

Synonym:

Depressed supraorbital margins; Depressed supraorbital ridge; Flat supraorbital margins; Flat supraorbital ridge; Flattened bony protrusion above eyes; Hypoplasia of supraorbital margins; Hypoplasia of the supraorbital ridges; Hypoplastic supraorbital ridges; Shallow orbital ridges; Shallow supraorbital ridge; Underdeveloped brows

Definition:

Flatness of the supraorbital portion of the frontal bones.

Comments:

Reference:

HP:0009891

Genes and Diseases:

Child Nodes:

Sister Nodes:

Prominent supraorbital ridges (HP:0000336)

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:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	5
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent	92
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040282 - Frequent	175
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	FGFR3 CL E G H	2261	3690	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	145
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	87
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	10
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	37
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	28
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040282 - Frequent	98
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	39
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional	200
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040283 - Occasional	88
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	257
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	40
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent	88
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional	43
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	3
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent	84
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	169
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	75
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	4
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	65
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	66
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	46
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	59
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	62
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	82
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	106
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	47
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	99
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent	98
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent	16
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	32
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	TCF12 CL E G H	6938	11623	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	28
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	TWIST1 CL E G H	7291	12428	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	18
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	31
HP:0009891	HP:0009891	Underdeveloped supraorbital ridges	0	ZIC1 CL E G H	7545	12872	ORPHA:35099	Isolated brachycephaly	HP:0040282 - Frequent	5

Genes (60) :ANTXR1 BRAF CITED2 ESCO2 FGFR2 FGFR3 FLT4 GATA4 GATA5 GATA6 GDF1 GHR GJA5 HBA1 HBA2 JAG1 KDR KIF11 KNSTRN KRAS LIG4 LZTR1 MAP2K1 MAP2K2 MASP1 MEGF8 MYOD1 NEU1 NKX2-5 NKX2-6 NSUN2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3CD PPP1R21 PRMT7 RAB23 RBM10 SIK3 SKIC3 SLC25A24 SOX11 SPOP TBX1 TCF12 TRAPPC9 TWIST1 ZFPM2 ZIC1

Diseases (33) :ORPHA:2067 ORPHA:1340 OMIM:115150 ORPHA:3303 ORPHA:3103 ORPHA:1540 ORPHA:35099 ORPHA:633 ORPHA:98791 ORPHA:2526 ORPHA:221139 OMIM:613328 ORPHA:235 OMIM:616564 OMIM:605275 OMIM:257920 OMIM:614976 OMIM:618975 ORPHA:93400 ORPHA:93399 ORPHA:912 OMIM:619383 OMIM:617157 OMIM:201000 ORPHA:2886 OMIM:311900 OMIM:618162 OMIM:222470 OMIM:612289 ORPHA:2095 OMIM:615866 OMIM:618828 ORPHA:352530

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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