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:
Abnormal nervous system morphology (HP:0012639)

Parent Node:
Morphological central nervous system abnormality (HP:0002011)

..Starting node
..Abnormal meningeal morphology (HP:0010651)

Term ID:

10651

Name:

Abnormal meningeal morphology

Synonym:

Abnormality of the meninges

Definition:

An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.

Comments:

Reference:

HP:0010651

Genes and Diseases:

Child Nodes:

........

Meningocele (HP:0002435)

................... HP:0002436 Occipital meningocele
................... HP:0002475 Myelomeningocele
................... HP:0030710 Lipomeningocele
................... HP:0030729 Frontoethmoidal meningocele
................... HP:0030730 Parietal meningocele

........

Abnormality of the spinal meninges (HP:0010303)

................... HP:0009744 Abnormality of the spinal dura mater
................... HP:0009745 Spinalarachnoid cyst
................... HP:0010304 Spinal meningeal diverticulum
................... HP:0100775 Dural ectasia

........

Abnormality of the dura mater (HP:0010652)

................... HP:0009744 Abnormality of the spinal dura mater
................... HP:0010653 Abnormality of the falx cerebri

........

Meningeal calcification (HP:0100250)

........

Abnormality of the arachnoid mater (HP:0100700)

................... HP:0100702 Arachnoid cyst

........

Abnormality of the pia mater (HP:0100701)

Sister Nodes:

Abnormal CNS myelination (HP:0011400)

Abnormal glial cell morphology (HP:0100705)

Abnormal neural tube morphology (HP:0410043)

Abnormal subarachnoid space morphology (HP:0012703)

Abnormality of brain morphology (HP:0012443)

Abnormality of neuronal migration (HP:0002269)

Abnormality of the cerebrospinal fluid (HP:0002921)

Abnormality of the spinal cord (HP:0002143)

Alzheimer disease (HP:0002511)

Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

Atrophy/Degeneration affecting the central nervous system (HP:0007367)

Central nervous system cyst (HP:0030724)

Encephalocele (HP:0002084)

Morphological abnormality of the pyramidal tract (HP:0002062)

Neoplasm of the central nervous system (HP:0100006)

Unusual CNS infection (HP:0011450)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010651	HP:0010651	Abnormal meningeal morphology	0	CL E G H
HP:0010651	HP:0010652	Abnormal dura mater morphology	1	CL E G H
HP:0010651	HP:0100701	Abnormal pia mater	1	CL E G H
HP:0010651	HP:0002435	Meningocele	1	CL E G H
HP:0010651	HP:0032070	Leptomeningeal enhancement	1	CL E G H
HP:0010651	HP:0100700	Abnormal arachnoid mater morphology	1	CL E G H
HP:0010651	HP:0100250	Meningeal calcification	1	CL E G H
HP:0010651	HP:0032934	Spontaneous cerebrospinal fluid leak	1	CL E G H
HP:0010651	HP:0010303	Abnormal spinal meningeal morphology	1	CL E G H
HP:0010651	HP:0030729	Frontoethmoidal meningocele	2	CL E G H
HP:0010651	HP:0030730	Parietal meningocele	2	CL E G H
HP:0010651	HP:0032267	Empty delta sign	2	CL E G H
HP:0010651	HP:0100702	Arachnoid cyst	2	CL E G H
HP:0010651	HP:0002475	Myelomeningocele	2	CL E G H
HP:0010651	HP:0032268	Dural tail sign	2	CL E G H
HP:0010651	HP:0030710	Lipomeningocele	2	CL E G H
HP:0010651	HP:0002436	Occipital meningocele	2	CL E G H
HP:0010651	HP:0010653	Abnormality of the falx cerebri	2	CL E G H
HP:0010651	HP:0100775	Dural ectasia	2	CL E G H
HP:0010651	HP:0032478	Lateral spinal meningocele	2	CL E G H
HP:0010651	HP:0009745	Spinal arachnoid cyst	2	CL E G H
HP:0010651	HP:0009744	Abnormal spinal dura mater morphology	2	CL E G H
HP:0010651	HP:0010304	Spinal meningeal diverticulum	2	CL E G H
HP:0010651	HP:0005462	Calcification of falx cerebri	3	CL E G H
HP:0010651	HP:0012488	Intraventricular arachnoid cyst	3	CL E G H
HP:0010651	HP:0025480	Lipomyelomeningocele	3	CL E G H
HP:0010651	HP:0012487	Cerebellopontine angle arachnoid cyst	3	CL E G H
HP:0010651	HP:0012489	Suprasellar arachnoid cyst	3	CL E G H
HP:0010651	HP:0007271	Occipital myelomeningocele	3	CL E G H
HP:0010651	HP:0010654	Aplasia of the falx cerebri	3	CL E G H
HP:0010651	HP:0009745	Spinal arachnoid cyst	3	CL E G H
HP:0010651	HP:0030708	Myeloschisis	3	CL E G H

Genes (81) :ABCC6 ACTA2 ARID2 ARVCF B3GALNT2 BMPER CEP290 COL11A1 COMT CSPP1 DACT1 DDR2 DLL3 DNAJC19 ELN FBN1 FGFR1 FGFR2 FKRP FKTN FLNA FOXC2 FOXE3 FRAS1 FREM2 GMPPB GP1BB GPSM2 GRIP1 H19 HES7 HIRA IGF2 INPP5E JMJD1C KCNQ1OT1 KIAA0586 LARGE1 LFNG LOX MAT2A MESP2 MFAP5 MYH11 MYLK NEK1 NOTCH3 NRAS OFD1 PAX3 POMGNT1 POMT1 POMT2 PORCN PRKG1 PTCH1 PTCH2 PUS3 RIPPLY2 RREB1 SACS SC5D SEC24C SHANK3 SMAD3 SNRPB SON SUFU TBX1 TGFB2 TGFB3 TGFBR1 TGFBR2 TMEM216 TMEM231 UFD1 VANGL1 VANGL2 WNT7A XPNPEP3 ZSWIM6

Diseases (56) :588 611134 154780 397715 2311 2789 130720 894 46059 603194 600145 2879 1827 91387 617808 66637 63260 66634 616914 154700 613001 101200 90652 33001 2052 219000 604213 2128 613686 617168 2751 249400 311200 193500 305600 617051 98 607330 48652 606232 284984 613795 1393 500150 617140 614816 182940 276820 613159 177850 567 271665 213300 77301 109400 2752

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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