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:
Abnormality of the respiratory system (HP:0002086)

Parent Node:
Abnormal respiratory system morphology (HP:0012252)

..Starting node
..Abnormal respiratory epithelium morphology (HP:0012253)

Term ID:

12253

Name:

Abnormal respiratory epithelium morphology

Synonym:

Definition:

Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.

Comments:

Reference:

HP:0012253

Genes and Diseases:

Child Nodes:

........

Abnormal respiratory motile cilium morphology (HP:0005938)

................... HP:0012255 Dynein arm defect of respiratory motile cilia
................... HP:0012258 Abnormal axonemal organization of respiratory motile cilia
................... HP:0012260 Abnormal central microtubular pair morphology of respiratory motile cilia
................... HP:0012264 Absent central microtubular pair morphology of respiratory motile cilia
................... HP:0012267 Absent respiratory ciliary axoneme radial spokes

........

Ectopic respiratory mucosa (HP:0100241)

Sister Nodes:

Abnormal lung morphology (HP:0002088)

Abnormal pulmonary situs morphology (HP:0011615)

Abnormality of the upper respiratory tract (HP:0002087)

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:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17		36
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	NME5 CL E G H	8382	7853	OMIM:620032
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6		50
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32		5
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012253	HP:0012253	Abnormal respiratory epithelium morphology	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0012253	HP:0100241	Ectopic respiratory mucosa	1	CL E G H
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	.	36
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10		78
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.	73
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	NME5 CL E G H	8382	7853	OMIM:620032
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6		50
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32		5
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11		58
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012253	HP:0005938	Abnormal respiratory motile cilium morphology	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0012253	HP:0012258	Abnormal axonemal organization of respiratory motile cilia	2	ARMC2 CL E G H	84071	23045	OMIM:618433	SPERMATOGENIC FAILURE 38; SPGF38
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0012253	HP:0012258	Abnormal axonemal organization of respiratory motile cilia	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0012253	HP:0012258	Abnormal axonemal organization of respiratory motile cilia	2	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15		182
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0012253	HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	2	DNAJB13 CL E G H	374407	30718	OMIM:617091	CILIARY DYSKINESIA, PRIMARY, 34; CILD34		2
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0012253	HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	2	NME5 CL E G H	8382	7853	OMIM:620032
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6		50
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0012253	HP:0012267	Absent respiratory ciliary axoneme radial spokes	2	RSPH3 CL E G H	83861	21054	OMIM:616481	Ciliary dyskinesia, primary, 32		5
HP:0012253	HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	2	RSPH4A CL E G H	345895	21558	OMIM:612649	Ciliary dyskinesia, primary, 11	.	58
HP:0012253	HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	2	RSPH9 CL E G H	221421	21057	OMIM:612650	CILIARY DYSKINESIA, PRIMARY, 12; CILD12		20
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28		45
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012253	HP:0012255	Dynein arm defect of respiratory motile cilia	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13		116
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18		62
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6		50
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012253	HP:0200106	Absent/shortened dynein arms	3	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0012253	HP:0200108	Shortened outer dynein arms	4	CL E G H
HP:0012253	HP:0200107	Shortened inner dynein arms	4	CL E G H
HP:0012253	HP:0012257	Absent inner dynein arms	4	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14		126
HP:0012253	HP:0012256	Absent outer dynein arms	4	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0012253	HP:0012257	Absent inner dynein arms	4	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0012253	HP:0012256	Absent outer dynein arms	4	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0012253	HP:0012257	Absent inner dynein arms	4	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0012253	HP:0012256	Absent outer dynein arms	4	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.	116
HP:0012253	HP:0012257	Absent inner dynein arms	4	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0012253	HP:0012256	Absent outer dynein arms	4	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0012253	HP:0012256	Absent outer dynein arms	4	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0012253	HP:0012257	Absent inner dynein arms	4	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0012253	HP:0012256	Absent outer dynein arms	4	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	.	62
HP:0012253	HP:0012256	Absent outer dynein arms	4	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0012253	HP:0012256	Absent outer dynein arms	4	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1		73
HP:0012253	HP:0012256	Absent outer dynein arms	4	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9		104
HP:0012253	HP:0012256	Absent outer dynein arms	4	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16		167
HP:0012253	HP:0200109	Absent/shortened outer dynein arms	4	NME8 CL E G H	51314	16473	OMIM:610852	Ciliary dyskinesia, primary, 6	.	50
HP:0012253	HP:0012256	Absent outer dynein arms	4	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	.
HP:0012253	HP:0012256	Absent outer dynein arms	4	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0012253	HP:0012256	Absent outer dynein arms	4	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012253	HP:0012257	Absent inner dynein arms	4	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012253	HP:0012257	Absent inner dynein arms	4	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0012253	HP:0012256	Absent outer dynein arms	4	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22		20
HP:0012253	HP:0012259	Absent inner and outer dynein arms	5	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0012253	HP:0012259	Absent inner and outer dynein arms	5	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	.
HP:0012253	HP:0012259	Absent inner and outer dynein arms	5	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2		63
HP:0012253	HP:0012259	Absent inner and outer dynein arms	5	TTC12 CL E G H	54970	23700	OMIM:618801	CILIARY DYSKINESIA, PRIMARY, 45; CILD45
HP:0012253	HP:0012259	Absent inner and outer dynein arms	5	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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