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:
Aplasia/Hypoplasia of the vertebrae (HP:0008515)

Parent Node:
Aplasia/Hypoplasia of the cervical spine (HP:0011041)

Parent Node:
Vertebral hypoplasia (HP:0008417)

..Starting node
..Hypoplastic cervical vertebrae (HP:0008434)

Term ID:

8434

Name:

Hypoplastic cervical vertebrae

Synonym:

Cervical vertebrae hypoplasia; Underdeveloped cervical vertebrae

Definition:

Comments:

Reference:

HP:0008434

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central vertebral hypoplasia (HP:0008463)

Hypoplastic 5th lumbar vertebrae (HP:0008424)

Hypoplastic coccygeal vertebrae (HP:0008447)

Hypoplastic sacral vertebrae (HP:0008475)

Hypoplastic vertebral bodies (HP:0008479)

Posterior vertebral hypoplasia (HP:0008451)

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:0008434	HP:0008434	Hypoplastic cervical vertebrae	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0008434	HP:0008434	Hypoplastic cervical vertebrae	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0008434	HP:0008434	Hypoplastic cervical vertebrae	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0008434	HP:0008434	Hypoplastic cervical vertebrae	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0008434	HP:0008434	Hypoplastic cervical vertebrae	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional	166
HP:0008434	HP:0008434	Hypoplastic cervical vertebrae	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent	166
HP:0008434	HP:0008434	Hypoplastic cervical vertebrae	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0008434	HP:0008434	Hypoplastic cervical vertebrae	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0008434	HP:0008434	Hypoplastic cervical vertebrae	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0008434	HP:0008434	Hypoplastic cervical vertebrae	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent	214

Genes (7) :ARSL EBP FLNB POGZ SLC26A2 SOX9 TRPV4

Diseases (10) :ORPHA:79345 ORPHA:35173 OMIM:150250 OMIM:616364 ORPHA:56304 ORPHA:628 OMIM:222600 ORPHA:93307 OMIM:114290 ORPHA:2635

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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