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:
Abnormal shape of the occiput (HP:0011217)

..Starting node
..Prominent occiput (HP:0000269)

Term ID:

269

Name:

Prominent occiput

Synonym:

Prominent back of the head; Prominent back of the skull; Prominent posterior cranium; Prominent posterior head; Prominent posterior skull; Protruding back of the head; Protruding occiput

Definition:

Increased convexity of the occiput (posterior part of the skull).

Comments:

Reference:

HP:0000269

Genes and Diseases:

Child Nodes:

Sister Nodes:

Flat occiput (HP:0005469)

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:0000269	HP:0000269	Prominent occiput	0	ALX4 CL E G H	60529	450	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	132
HP:0000269	HP:0000269	Prominent occiput	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	5
HP:0000269	HP:0000269	Prominent occiput	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent	192
HP:0000269	HP:0000269	Prominent occiput	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent	38
HP:0000269	HP:0000269	Prominent occiput	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0000269	HP:0000269	Prominent occiput	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000269	HP:0000269	Prominent occiput	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0000269	HP:0000269	Prominent occiput	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000269	HP:0000269	Prominent occiput	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0000269	HP:0000269	Prominent occiput	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000269	HP:0000269	Prominent occiput	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0000269	HP:0000269	Prominent occiput	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000269	HP:0000269	Prominent occiput	0	ERF CL E G H	2077	3444	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	12
HP:0000269	HP:0000269	Prominent occiput	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0000269	HP:0000269	Prominent occiput	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0000269	HP:0000269	Prominent occiput	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000269	HP:0000269	Prominent occiput	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000269	HP:0000269	Prominent occiput	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000269	HP:0000269	Prominent occiput	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	270
HP:0000269	HP:0000269	Prominent occiput	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0000269	HP:0000269	Prominent occiput	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0000269	HP:0000269	Prominent occiput	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0000269	HP:0000269	Prominent occiput	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000269	HP:0000269	Prominent occiput	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	93
HP:0000269	HP:0000269	Prominent occiput	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0000269	HP:0000269	Prominent occiput	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	4
HP:0000269	HP:0000269	Prominent occiput	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0000269	HP:0000269	Prominent occiput	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0000269	HP:0000269	Prominent occiput	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000269	HP:0000269	Prominent occiput	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0000269	HP:0000269	Prominent occiput	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0000269	HP:0000269	Prominent occiput	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.	141
HP:0000269	HP:0000269	Prominent occiput	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	10
HP:0000269	HP:0000269	Prominent occiput	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0000269	HP:0000269	Prominent occiput	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0000269	HP:0000269	Prominent occiput	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0000269	HP:0000269	Prominent occiput	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	167
HP:0000269	HP:0000269	Prominent occiput	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0000269	HP:0000269	Prominent occiput	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0000269	HP:0000269	Prominent occiput	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000269	HP:0000269	Prominent occiput	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000269	HP:0000269	Prominent occiput	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0000269	HP:0000269	Prominent occiput	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0000269	HP:0000269	Prominent occiput	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000269	HP:0000269	Prominent occiput	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	96
HP:0000269	HP:0000269	Prominent occiput	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000269	HP:0000269	Prominent occiput	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0000269	HP:0000269	Prominent occiput	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0000269	HP:0000269	Prominent occiput	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0000269	HP:0000269	Prominent occiput	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000269	HP:0000269	Prominent occiput	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000269	HP:0000269	Prominent occiput	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	334
HP:0000269	HP:0000269	Prominent occiput	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0000269	HP:0000269	Prominent occiput	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0000269	HP:0000269	Prominent occiput	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000269	HP:0000269	Prominent occiput	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000269	HP:0000269	Prominent occiput	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000269	HP:0000269	Prominent occiput	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional	271
HP:0000269	HP:0000269	Prominent occiput	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040282 - Frequent	19
HP:0000269	HP:0000269	Prominent occiput	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional	104
HP:0000269	HP:0000269	Prominent occiput	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000269	HP:0000269	Prominent occiput	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0000269	HP:0000269	Prominent occiput	0	TWIST1 CL E G H	7291	12428	ORPHA:35093	Isolated scaphocephaly	HP:0040283 - Occasional	18
HP:0000269	HP:0000269	Prominent occiput	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0000269	HP:0000269	Prominent occiput	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0000269	HP:0000269	Prominent occiput	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	95
HP:0000269	HP:0000269	Prominent occiput	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	136

Genes (60) :ALX4 ATP6V1B2 ATP7A B3GALT6 CCDC22 CDK13 CDKN1C CHUK CNOT1 CNOT3 CTSK DLL3 ERF FLNA FLNB GDF11 GJA5 GJA8 GLI3 H19-ICR HES7 HRAS HYMAI IFT122 IFT43 IFT52 IFT81 IGF2 ITCH KAT6B KATNB1 KCNQ1 KCNQ1OT1 KIF7 KRAS LFNG MED12 MESP2 MOGS MYCN NDE1 NFIX NOTCH2 NRAS PIGA PIGN PLAGL1 RELN RIPPLY2 RNU4ATAC SMG9 SOX6 TBC1D24 TBX6 TFAP2B TOR1A TWIST1 WASHC5 WDR19 WDR35

Diseases (44) :ORPHA:35093 ORPHA:79500 ORPHA:565 ORPHA:2725 ORPHA:7 OMIM:617360 OMIM:130650 OMIM:619339 ORPHA:556955 OMIM:618672 OMIM:265800 ORPHA:2311 OMIM:311300 OMIM:108721 OMIM:619122 OMIM:612474 ORPHA:36 ORPHA:2612 ORPHA:96191 ORPHA:1515 OMIM:617895 OMIM:613385 ORPHA:228426 ORPHA:3047 OMIM:603736 ORPHA:89844 OMIM:200990 ORPHA:93932 OMIM:606056 ORPHA:79330 OMIM:164280 OMIM:602535 ORPHA:955 OMIM:300868 ORPHA:280633 ORPHA:2636 OMIM:210710 OMIM:616920 OMIM:618971 ORPHA:1797 ORPHA:46627 OMIM:618947 OMIM:123100 OMIM:220210

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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