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 system morphology (HP:0012252)

Parent Node:
Abnormal respiratory epithelium morphology (HP:0012253)

..Starting node
..Abnormal respiratory motile cilium morphology (HP:0005938)

Term ID:

5938

Name:

Abnormal respiratory motile cilium morphology

Synonym:

Definition:

Abnormal arrangement of the structures of the motile cilium.

Comments:

Reference:

HP:0005938

Genes and Diseases:

Child Nodes:

........

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

................... HP:0200106 Absent/shortened dynein arms

........

Abnormal axonemal organization of respiratory motile cilia (HP:0012258)

........

Abnormal central microtubular pair morphology of respiratory motile cilia (HP:0012260)

........

Absent central microtubular pair morphology of respiratory motile cilia (HP:0012264)

........

Absent respiratory ciliary axoneme radial spokes (HP:0012267)

Sister Nodes:

Ectopic respiratory mucosa (HP:0100241)

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:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	.	36
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	NME5 CL E G H	8382	7853	OMIM:620032
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6		50
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32		5
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0005938	HP:0005938	Abnormal respiratory motile cilium morphology	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0005938	HP:0012258	Abnormal axonemal organization of respiratory motile cilia	1	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0005938	HP:0012258	Abnormal axonemal organization of respiratory motile cilia	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0005938	HP:0012258	Abnormal axonemal organization of respiratory motile cilia	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0005938	HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	1	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0005938	HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	1	NME5 CL E G H	8382	7853	OMIM:620032
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6		50
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0005938	HP:0012267	Absent respiratory ciliary axoneme radial spokes	1	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32		5
HP:0005938	HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11	.	58
HP:0005938	HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0005938	HP:0012255	Dynein arm defect of respiratory motile cilia	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6		50
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0005938	HP:0200106	Absent/shortened dynein arms	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0005938	HP:0200107	Shortened inner dynein arms	3	CL E G H
HP:0005938	HP:0200108	Shortened outer dynein arms	3	CL E G H
HP:0005938	HP:0012257	Absent inner dynein arms	3	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0005938	HP:0012256	Absent outer dynein arms	3	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0005938	HP:0012257	Absent inner dynein arms	3	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0005938	HP:0012256	Absent outer dynein arms	3	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0005938	HP:0012256	Absent outer dynein arms	3	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0005938	HP:0012257	Absent inner dynein arms	3	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0005938	HP:0012257	Absent inner dynein arms	3	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0005938	HP:0012256	Absent outer dynein arms	3	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0005938	HP:0012256	Absent outer dynein arms	3	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0005938	HP:0012257	Absent inner dynein arms	3	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0005938	HP:0012256	Absent outer dynein arms	3	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0005938	HP:0012256	Absent outer dynein arms	3	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0005938	HP:0012256	Absent outer dynein arms	3	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0005938	HP:0012256	Absent outer dynein arms	3	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0005938	HP:0012256	Absent outer dynein arms	3	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0005938	HP:0200109	Absent/shortened outer dynein arms	3	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6	.	50
HP:0005938	HP:0012256	Absent outer dynein arms	3	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0005938	HP:0012256	Absent outer dynein arms	3	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0005938	HP:0012256	Absent outer dynein arms	3	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0005938	HP:0012257	Absent inner dynein arms	3	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0005938	HP:0012257	Absent inner dynein arms	3	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0005938	HP:0012256	Absent outer dynein arms	3	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0005938	HP:0012259	Absent inner and outer dynein arms	4	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0005938	HP:0012259	Absent inner and outer dynein arms	4	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0005938	HP:0012259	Absent inner and outer dynein arms	4	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0005938	HP:0012259	Absent inner and outer dynein arms	4	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0005938	HP:0012259	Absent inner and outer dynein arms	4	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.	20

Genes (26) :ARMC2 CCDC103 CCDC39 CCDC40 CFAP298 CFAP300 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 NME5 NME8 ODAD1 ODAD3 RSPH3 RSPH4A RSPH9 SPAG1 TTC12 ZMYND10

Diseases (26) :OMIM:618433 OMIM:614679 OMIM:613807 OMIM:613808 OMIM:615500 OMIM:618063 OMIM:613193 OMIM:614935 OMIM:612518 OMIM:606763 OMIM:614874 OMIM:618300 OMIM:244400 OMIM:612444 OMIM:617091 OMIM:614017 OMIM:620032 OMIM:610852 OMIM:615067 OMIM:616037 OMIM:616481 OMIM:612649 OMIM:612650 OMIM:615505 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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