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 fontanelles or cranial sutures (HP:0000235)

Parent Node:
Abnormality of cranial sutures (HP:0011329)

..Starting node
..Wormian bones (HP:0002645)

Term ID:

2645

Name:

Wormian bones

Synonym:

Extra bones within cranial sutures; Intra sutural bones; Intrasutural bones; Islands of bone within cranial sutures

Definition:

The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.

Comments:

Reference:

HP:0002645

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the metopic suture (HP:0005556)

Accessory cranial suture (HP:0012800)

Craniosynostosis (HP:0001363)

Delayed cranial suture closure (HP:0000270)

Ridged cranial sutures (HP:0010823)

Sclerotic cranial sutures (HP:0005441)

Wide cranial sutures (HP:0010537)

Widely patent coronal suture (HP:0005442)

Widely patent sagittal suture (HP:0005476)

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:0002645	HP:0002645	Wormian bones	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0002645	HP:0002645	Wormian bones	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0002645	HP:0002645	Wormian bones	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0002645	HP:0002645	Wormian bones	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	HP:0040283 - Occasional	89
HP:0002645	HP:0002645	Wormian bones	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0002645	HP:0002645	Wormian bones	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0002645	HP:0002645	Wormian bones	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0002645	HP:0002645	Wormian bones	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0002645	HP:0002645	Wormian bones	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent	192
HP:0002645	HP:0002645	Wormian bones	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.	192
HP:0002645	HP:0002645	Wormian bones	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0002645	HP:0002645	Wormian bones	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional	49
HP:0002645	HP:0002645	Wormian bones	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0002645	HP:0002645	Wormian bones	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0002645	HP:0002645	Wormian bones	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	373
HP:0002645	HP:0002645	Wormian bones	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.	373
HP:0002645	HP:0002645	Wormian bones	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0002645	HP:0002645	Wormian bones	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	373
HP:0002645	HP:0002645	Wormian bones	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0002645	HP:0002645	Wormian bones	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.	243
HP:0002645	HP:0002645	Wormian bones	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0002645	HP:0002645	Wormian bones	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	243
HP:0002645	HP:0002645	Wormian bones	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0002645	HP:0002645	Wormian bones	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0002645	HP:0002645	Wormian bones	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0002645	HP:0002645	Wormian bones	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040282 - Frequent	39
HP:0002645	HP:0002645	Wormian bones	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002645	HP:0002645	Wormian bones	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0002645	HP:0002645	Wormian bones	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0002645	HP:0002645	Wormian bones	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent	61
HP:0002645	HP:0002645	Wormian bones	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0002645	HP:0002645	Wormian bones	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0002645	HP:0002645	Wormian bones	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0002645	HP:0002645	Wormian bones	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V	.	8
HP:0002645	HP:0002645	Wormian bones	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0002645	HP:0002645	Wormian bones	0	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	276
HP:0002645	HP:0002645	Wormian bones	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0002645	HP:0002645	Wormian bones	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0002645	HP:0002645	Wormian bones	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent	645
HP:0002645	HP:0002645	Wormian bones	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional	125
HP:0002645	HP:0002645	Wormian bones	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002645	HP:0002645	Wormian bones	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0002645	HP:0002645	Wormian bones	0	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina		45
HP:0002645	HP:0002645	Wormian bones	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0002645	HP:0002645	Wormian bones	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002645	HP:0002645	Wormian bones	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0002645	HP:0002645	Wormian bones	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0002645	HP:0002645	Wormian bones	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0002645	HP:0002645	Wormian bones	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0002645	HP:0002645	Wormian bones	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0002645	HP:0002645	Wormian bones	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent	2
HP:0002645	HP:0002645	Wormian bones	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:0002645	HP:0002645	Wormian bones	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0002645	HP:0002645	Wormian bones	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	HP:0040283 - Occasional	28
HP:0002645	HP:0002645	Wormian bones	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent	45
HP:0002645	HP:0002645	Wormian bones	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	45
HP:0002645	HP:0002645	Wormian bones	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0002645	HP:0002645	Wormian bones	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX	.	39
HP:0002645	HP:0002645	Wormian bones	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0002645	HP:0002645	Wormian bones	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0002645	HP:0002645	Wormian bones	0	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	54
HP:0002645	HP:0002645	Wormian bones	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002645	HP:0002645	Wormian bones	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0002645	HP:0002645	Wormian bones	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0002645	HP:0002645	Wormian bones	0	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	318
HP:0002645	HP:0002645	Wormian bones	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent	5
HP:0002645	HP:0002645	Wormian bones	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0002645	HP:0002645	Wormian bones	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0002645	HP:0002645	Wormian bones	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0002645	HP:0002645	Wormian bones	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.	134
HP:0002645	HP:0002645	Wormian bones	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0002645	HP:0002645	Wormian bones	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.	34
HP:0002645	HP:0002645	Wormian bones	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0002645	HP:0002645	Wormian bones	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0002645	HP:0002645	Wormian bones	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.	9
HP:0002645	HP:0002645	Wormian bones	0	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	199
HP:0002645	HP:0002645	Wormian bones	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83

Genes (58) :AFF4 AIFM1 ALDH18A1 ARID2 ATP6V0A2 ATP7A BCL11B BMP1 CCDC134 CHD4 COL1A1 COL1A2 CREB3L1 CRTAP CTSK DLK1 ELN FBLN5 FKBP10 FLNA HPGD HSPG2 IFITM5 KDELR2 KIF1A LEMD2 LMNA LRP5 MEG3 MESD MSX2 MTX2 NFIX NOTCH2 NOTCH3 P3H1 P4HB PAM16 PDGFRB PLOD2 POGZ PPIB PRKG2 PYCR1 RETREG1 RTL1 RUNX2 SCN9A SEC24D SETBP1 SH3PXD2B SMO SP7 TAPT1 TENT5A THRA WNK1 ZMPSTE24

Diseases (64) :ORPHA:444077 OMIM:300232 ORPHA:90348 OMIM:616603 OMIM:219150 OMIM:617808 ORPHA:2834 OMIM:278250 ORPHA:565 OMIM:309400 OMIM:617237 OMIM:614856 OMIM:619795 OMIM:617159 OMIM:166200 OMIM:166210 OMIM:259420 OMIM:166220 OMIM:617821 OMIM:616229 OMIM:610682 OMIM:265800 ORPHA:763 ORPHA:96334 ORPHA:2771 OMIM:304120 OMIM:259100 ORPHA:800 OMIM:610967 OMIM:619131 ORPHA:970 OMIM:619322 OMIM:248370 ORPHA:90153 ORPHA:2788 OMIM:618644 OMIM:168500 OMIM:602535 OMIM:102500 ORPHA:955 OMIM:130720 ORPHA:2789 OMIM:610915 ORPHA:2050 OMIM:112240 OMIM:613320 OMIM:601812 OMIM:609220 OMIM:616364 OMIM:259440 OMIM:619638 OMIM:612940 OMIM:119600 ORPHA:1452 OMIM:616294 OMIM:269150 ORPHA:798 OMIM:249420 OMIM:601707 OMIM:613849 OMIM:616897 OMIM:617952 OMIM:614450 OMIM:608612

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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