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:
obsolete Abnormality of calvarial morphology (HP:0002648)

Parent Node:
Dolichocephaly (HP:0000268)

..Starting node
..Scaphocephaly (HP:0030799)

Term ID:

30799

Name:

Scaphocephaly

Synonym:

Definition:

Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.

Comments:

Reference:

HP:0030799

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0030799	HP:0030799	Scaphocephaly	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0030799	HP:0030799	Scaphocephaly	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0030799	HP:0030799	Scaphocephaly	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0030799	HP:0030799	Scaphocephaly	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0030799	HP:0030799	Scaphocephaly	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0030799	HP:0030799	Scaphocephaly	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0030799	HP:0030799	Scaphocephaly	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional	3
HP:0030799	HP:0030799	Scaphocephaly	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0030799	HP:0030799	Scaphocephaly	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0030799	HP:0030799	Scaphocephaly	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0030799	HP:0030799	Scaphocephaly	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0030799	HP:0030799	Scaphocephaly	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0030799	HP:0030799	Scaphocephaly	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome	.	270
HP:0030799	HP:0030799	Scaphocephaly	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0030799	HP:0030799	Scaphocephaly	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0030799	HP:0030799	Scaphocephaly	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0030799	HP:0030799	Scaphocephaly	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0030799	HP:0030799	Scaphocephaly	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0030799	HP:0030799	Scaphocephaly	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional	11
HP:0030799	HP:0030799	Scaphocephaly	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	HP:0040283 - Occasional	8
HP:0030799	HP:0030799	Scaphocephaly	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0030799	HP:0030799	Scaphocephaly	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0030799	HP:0030799	Scaphocephaly	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0030799	HP:0030799	Scaphocephaly	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0030799	HP:0030799	Scaphocephaly	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0030799	HP:0030799	Scaphocephaly	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.	13
HP:0030799	HP:0030799	Scaphocephaly	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3	.	196
HP:0030799	HP:0030799	Scaphocephaly	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0030799	HP:0030799	Scaphocephaly	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0030799	HP:0030799	Scaphocephaly	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0030799	HP:0030799	Scaphocephaly	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0030799	HP:0030799	Scaphocephaly	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0030799	HP:0030799	Scaphocephaly	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0030799	HP:0030799	Scaphocephaly	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0030799	HP:0030799	Scaphocephaly	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0030799	HP:0030799	Scaphocephaly	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0030799	HP:0030799	Scaphocephaly	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.	4
HP:0030799	HP:0030799	Scaphocephaly	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0030799	HP:0030799	Scaphocephaly	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0030799	HP:0030799	Scaphocephaly	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1	.	18

Genes (37) :AGO2 ALG14 ARCN1 ASXL3 ATP6V0A2 CNTN1 COL25A1 DPH1 ERGIC1 FBN1 FBN2 GLI3 HSD17B4 IDS IFT122 IFT140 IFT43 IL11RA IL6ST KCNJ2 KCNJ5 KIF15 KPTN KRAS NFIX OFD1 OGDHL PEX19 PRIM1 RYR1 SCARF2 SCYL2 SOX6 TBC1D7 THUMPD1 TRAIP TWIST1

Diseases (37) :OMIM:619149 OMIM:619036 OMIM:617164 OMIM:615485 OMIM:278250 OMIM:612540 ORPHA:1143 ORPHA:459061 OMIM:616901 OMIM:616914 OMIM:121050 OMIM:175700 ORPHA:672 OMIM:261515 OMIM:309900 OMIM:218330 OMIM:266920 OMIM:614099 OMIM:614188 OMIM:618523 ORPHA:37553 ORPHA:261323 ORPHA:397612 OMIM:615637 OMIM:609942 ORPHA:420179 OMIM:300209 OMIM:619701 OMIM:614886 OMIM:620005 OMIM:619542 OMIM:600920 OMIM:618971 OMIM:248000 OMIM:619989 OMIM:616777 OMIM:123100

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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