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:
Prenatal movement abnormality (HP:0001557)

Parent Node:
Decreased fetal movement (HP:0001558)

..Starting node
..Fetal akinesia sequence (HP:0001989)

Term ID:

1989

Name:

Fetal akinesia sequence

Synonym:

Early severe fetal akinesia sequence; Early severe foetal akinesia sequence; Fetal akinesia; Foetal akinesia; Foetal akinesia sequence

Definition:

Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).

Comments:

Reference:

HP:0001989

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0001989	HP:0001989	Fetal akinesia sequence	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0001989	HP:0001989	Fetal akinesia sequence	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD		239
HP:0001989	HP:0001989	Fetal akinesia sequence	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0001989	HP:0001989	Fetal akinesia sequence	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0001989	HP:0001989	Fetal akinesia sequence	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0001989	HP:0001989	Fetal akinesia sequence	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0001989	HP:0001989	Fetal akinesia sequence	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.	9
HP:0001989	HP:0001989	Fetal akinesia sequence	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0001989	HP:0001989	Fetal akinesia sequence	0	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3		91
HP:0001989	HP:0001989	Fetal akinesia sequence	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare	38
HP:0001989	HP:0001989	Fetal akinesia sequence	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0001989	HP:0001989	Fetal akinesia sequence	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0001989	HP:0001989	Fetal akinesia sequence	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0001989	HP:0001989	Fetal akinesia sequence	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2		18
HP:0001989	HP:0001989	Fetal akinesia sequence	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0001989	HP:0001989	Fetal akinesia sequence	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0001989	HP:0001989	Fetal akinesia sequence	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	HP:0040283 - Occasional	13
HP:0001989	HP:0001989	Fetal akinesia sequence	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.	6
HP:0001989	HP:0001989	Fetal akinesia sequence	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	HP:0040284 - Very rare	63
HP:0001989	HP:0001989	Fetal akinesia sequence	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0001989	HP:0001989	Fetal akinesia sequence	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0001989	HP:0001989	Fetal akinesia sequence	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0001989	HP:0001989	Fetal akinesia sequence	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001989	HP:0001989	Fetal akinesia sequence	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0001989	HP:0001989	Fetal akinesia sequence	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0001989	HP:0001989	Fetal akinesia sequence	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0001989	HP:0001989	Fetal akinesia sequence	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0001989	HP:0001989	Fetal akinesia sequence	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001989	HP:0001989	Fetal akinesia sequence	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0001989	HP:0001989	Fetal akinesia sequence	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0001989	HP:0001989	Fetal akinesia sequence	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040284 - Very rare	1200
HP:0001989	HP:0001989	Fetal akinesia sequence	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0001989	HP:0001989	Fetal akinesia sequence	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0001989	HP:0001989	Fetal akinesia sequence	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0001989	HP:0001989	Fetal akinesia sequence	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	HP:0040283 - Occasional	214
HP:0001989	HP:0001989	Fetal akinesia sequence	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106
HP:0001989	HP:0001989	Fetal akinesia sequence	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19

Genes (32) :ACTA1 ATP1A2 CHRNA1 CHRND CHRNG CNTN1 CNTNAP1 DOK7 DPAGT1 GBA1 GLE1 KBTBD13 KIF5C KLHL40 KLHL41 LGI4 MAGEL2 MUSK MYOD1 MYPN NEB NEK9 NUP88 PIGS RAPSN RYR1 SLC18A3 TPM2 TPM3 TRPV4 TUBA1A ZC4H2

Diseases (23) :ORPHA:171439 OMIM:619602 OMIM:253290 OMIM:612540 OMIM:616286 ORPHA:994 OMIM:618389 ORPHA:86309 ORPHA:85212 OMIM:611890 OMIM:615282 OMIM:615348 OMIM:615731 OMIM:617468 OMIM:615547 OMIM:208150 OMIM:618975 OMIM:617022 OMIM:618143 OMIM:618388 ORPHA:597 OMIM:156530 OMIM:301041

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