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:
Abnormal form of the vertebral bodies (HP:0003312)

Parent Node:
Vertebral clefting (HP:0008428)

..Starting node
..Coronal cleft vertebrae (HP:0003417)

Term ID:

3417

Name:

Coronal cleft vertebrae

Synonym:

coronal cleft of vertebrae; Coronal clefts; Coronal vertebral clefts; Vertebral coronal clefts

Definition:

Frontal schisis (cleft or cleavage) of vertebral bodies.

Comments:

Reference:

HP:0003417

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior clefting of vertebral bodies (HP:0009761)

Butterfly vertebrae (HP:0003316)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	HP:0011463 - Childhood onset	222
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional		222
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional		284
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040282 - Frequent		233
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040282 - Frequent		233
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent		8
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II			166
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.	HP:0003623 - Neonatal onset	133
HP:0003417	HP:0003417	Coronal cleft vertebrae	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional		214

Genes (17) :ALDH1A2 ARSL CHST3 COL11A2 COL2A1 CSGALNACT1 FLNB HSPA9 HSPG2 IARS2 LAMA5 LONP1 PEX7 SLC10A7 SLC26A2 TRIP11 TRPV4

Diseases (22) :OMIM:620025 ORPHA:79345 OMIM:143095 OMIM:215150 ORPHA:1427 OMIM:156550 ORPHA:485 OMIM:618870 ORPHA:1190 ORPHA:56305 OMIM:108720 OMIM:616854 OMIM:255800 OMIM:616007 OMIM:620076 OMIM:600373 ORPHA:1458 OMIM:215100 OMIM:618363 OMIM:256050 OMIM:184260 ORPHA:93314

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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