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:
Abnormal respiratory motile cilium morphology (HP:0005938)

Parent Node:
Dynein arm defect of respiratory motile cilia (HP:0012255)

..Starting node
..Absent/shortened dynein arms (HP:0200106)

Term ID:

200106

Name:

Absent/shortened dynein arms

Synonym:

Definition:

Comments:

Reference:

HP:0200106

Genes and Diseases:

Child Nodes:

........

Absent outer dynein arms (HP:0012256)

................... HP:0012259 Absent inner and outer dynein arms
................... HP:0200109 Absent/shortened outer dynein arms

........

Absent inner dynein arms (HP:0012257)

................... HP:0012259 Absent inner and outer dynein arms

........

Shortened inner dynein arms (HP:0200107)

........

Shortened outer dynein arms (HP:0200108)

................... HP:0200109 Absent/shortened outer dynein arms

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:0200106	HP:0200106	Absent/shortened dynein arms	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6		50
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0200106	HP:0200106	Absent/shortened dynein arms	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0200106	HP:0200108	Shortened outer dynein arms	1	CL E G H
HP:0200106	HP:0200107	Shortened inner dynein arms	1	CL E G H
HP:0200106	HP:0012257	Absent inner dynein arms	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0200106	HP:0012256	Absent outer dynein arms	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0200106	HP:0012257	Absent inner dynein arms	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0200106	HP:0012256	Absent outer dynein arms	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0200106	HP:0012257	Absent inner dynein arms	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0200106	HP:0012256	Absent outer dynein arms	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0200106	HP:0012257	Absent inner dynein arms	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0200106	HP:0012256	Absent outer dynein arms	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0200106	HP:0012256	Absent outer dynein arms	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0200106	HP:0012257	Absent inner dynein arms	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0200106	HP:0012256	Absent outer dynein arms	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0200106	HP:0012256	Absent outer dynein arms	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0200106	HP:0012256	Absent outer dynein arms	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0200106	HP:0012256	Absent outer dynein arms	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0200106	HP:0012256	Absent outer dynein arms	1	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0200106	HP:0200109	Absent/shortened outer dynein arms	1	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6	.	50
HP:0200106	HP:0012256	Absent outer dynein arms	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0200106	HP:0012256	Absent outer dynein arms	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0200106	HP:0012256	Absent outer dynein arms	1	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0200106	HP:0012257	Absent inner dynein arms	1	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0200106	HP:0012257	Absent inner dynein arms	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0200106	HP:0012256	Absent outer dynein arms	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0200106	HP:0012259	Absent inner and outer dynein arms	2	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0200106	HP:0012259	Absent inner and outer dynein arms	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0200106	HP:0012259	Absent inner and outer dynein arms	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0200106	HP:0012259	Absent inner and outer dynein arms	2	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0200106	HP:0012259	Absent inner and outer dynein arms	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20

Genes (16) :CCDC39 CFAP298 CFAP300 DNAAF1 DNAAF11 DNAAF3 DNAAF5 DNAH9 DNAI1 DNAI2 DNAL1 NME8 ODAD1 ODAD3 TTC12 ZMYND10

Diseases (16) :OMIM:613807 OMIM:615500 OMIM:618063 OMIM:613193 OMIM:614935 OMIM:606763 OMIM:614874 OMIM:618300 OMIM:244400 OMIM:612444 OMIM:614017 OMIM:610852 OMIM:615067 OMIM:616037 OMIM:618801 OMIM:615444

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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