Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormality of the vertebral column (HP:0000925)

Grandparent Node:
Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122)

Parent Node:
Abnormality of the cervical spine (HP:0003319)

Parent Node:
Aplasia/Hypoplasia involving the vertebral column (HP:0008518)

..Starting node
..Aplasia/Hypoplasia of the cervical spine (HP:0011041)

Term ID:

11041

Name:

Aplasia/Hypoplasia of the cervical spine

Synonym:

Absent/small cervical spine; Absent/underdeveloped cervical spine

Definition:

Aplasia or developmental hypoplasia of the cervical vertebral column.

Comments:

Reference:

HP:0011041

Genes and Diseases:

Child Nodes:

........

Hypoplastic cervical vertebrae (HP:0008434)

........

Cervical vertebral agenesis (HP:0008459)

........

Cervical vertebral facet hypoplasia (HP:0008461)

Sister Nodes:

Aplasia/Hypoplasia of the sacrum (HP:0008517)

Aplasia/Hypoplasia of the vertebrae (HP:0008515)

Hypoplasia of the odontoid process (HP:0003311)

Hypoplastic spinal processes (HP:0008460)

Relatively short spine (HP:0002766)

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:0011041	HP:0011041	Aplasia/Hypoplasia of the cervical spine	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0011041	HP:0011041	Aplasia/Hypoplasia of the cervical spine	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0011041	HP:0011041	Aplasia/Hypoplasia of the cervical spine	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:0011041	HP:0011041	Aplasia/Hypoplasia of the cervical spine	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0011041	HP:0011041	Aplasia/Hypoplasia of the cervical spine	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0011041	HP:0011041	Aplasia/Hypoplasia of the cervical spine	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia		166
HP:0011041	HP:0011041	Aplasia/Hypoplasia of the cervical spine	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0011041	HP:0011041	Aplasia/Hypoplasia of the cervical spine	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0011041	HP:0011041	Aplasia/Hypoplasia of the cervical spine	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0011041	HP:0011041	Aplasia/Hypoplasia of the cervical spine	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0011041	HP:0008461	Cervical vertebral facet hypoplasia	1	CL E G H
HP:0011041	HP:0008459	Cervical vertebral agenesis	1	CL E G H
HP:0011041	HP:0008434	Hypoplastic cervical vertebrae	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0011041	HP:0008434	Hypoplastic cervical vertebrae	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0011041	HP:0008434	Hypoplastic cervical vertebrae	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0011041	HP:0008434	Hypoplastic cervical vertebrae	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0011041	HP:0008434	Hypoplastic cervical vertebrae	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional	166
HP:0011041	HP:0008434	Hypoplastic cervical vertebrae	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent	166
HP:0011041	HP:0008434	Hypoplastic cervical vertebrae	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.	166
HP:0011041	HP:0008434	Hypoplastic cervical vertebrae	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0011041	HP:0008434	Hypoplastic cervical vertebrae	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0011041	HP:0008434	Hypoplastic cervical vertebrae	1	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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen