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 physiology (HP:0002795)

Parent Node:
Abnormal breath sound (HP:0030829)

..Starting node
..Crackles (HP:0030830)

Term ID:

30830

Name:

Crackles

Synonym:

Crepitations; Rales

Definition:

Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.

Comments:

Reference:

HP:0030830

Genes and Diseases:

Child Nodes:

Sister Nodes:

Rhonchi (HP:0030831)

Stridor (HP:0010307)

Wheezing (HP:0030828)

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:0030830	HP:0030830	Crackles	0	ABCA3 CL E G H	21	33	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	147
HP:0030830	HP:0030830	Crackles	0	ATP11A CL E G H	23250	13552	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0030830	HP:0030830	Crackles	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	1371
HP:0030830	HP:0030830	Crackles	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional	15
HP:0030830	HP:0030830	Crackles	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional	17
HP:0030830	HP:0030830	Crackles	0	DPP9 CL E G H	91039	18648	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0030830	HP:0030830	Crackles	0	DSP CL E G H	1832	3052	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	747
HP:0030830	HP:0030830	Crackles	0	FAM13A CL E G H	10144	19367	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent
HP:0030830	HP:0030830	Crackles	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040283 - Occasional	2
HP:0030830	HP:0030830	Crackles	0	MUC5B CL E G H	727897	7516	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	133
HP:0030830	HP:0030830	Crackles	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0030830	HP:0030830	Crackles	0	PARN CL E G H	5073	8609	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	26
HP:0030830	HP:0030830	Crackles	0	RTEL1 CL E G H	51750	15888	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	77
HP:0030830	HP:0030830	Crackles	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0030830	HP:0030830	Crackles	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	67
HP:0030830	HP:0030830	Crackles	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	61
HP:0030830	HP:0030830	Crackles	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040282 - Frequent	57
HP:0030830	HP:0030830	Crackles	0	SFTPA1 CL E G H	653509	10798	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	19
HP:0030830	HP:0030830	Crackles	0	SFTPA1 CL E G H	653509	10798	OMIM:619611	INTERSTITIAL LUNG DISEASE 1; ILD1		19
HP:0030830	HP:0030830	Crackles	0	SFTPA2 CL E G H	729238	10799	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	10
HP:0030830	HP:0030830	Crackles	0	SFTPC CL E G H	6440	10802	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	33
HP:0030830	HP:0030830	Crackles	0	STN1 CL E G H	79991	26200	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	2
HP:0030830	HP:0030830	Crackles	0	TERC CL E G H	7012	11727	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	48
HP:0030830	HP:0030830	Crackles	0	TERT CL E G H	7015	11730	ORPHA:2032	Idiopathic pulmonary fibrosis	HP:0040282 - Frequent	238
HP:0030830	HP:0030830	Crackles	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0030830	HP:0031996	Inspiratory crackles	1	CL E G H
HP:0030830	HP:0031999	Expiratory crackles	1	CL E G H
HP:0030830	HP:0031998	Late inspiratory crackles	2	CL E G H
HP:0030830	HP:0031997	Early inspiratory crackles	2	CL E G H

Genes (23) :ABCA3 ATP11A CFTR CSF2RA CSF2RB DPP9 DSP FAM13A HLA-DRB1 MUC5B NKX2-1 PARN RTEL1 RYR1 SCNN1A SCNN1B SCNN1G SFTPA1 SFTPA2 SFTPC STN1 TERC TERT

Diseases (8) :ORPHA:2032 ORPHA:60033 ORPHA:264675 ORPHA:747 OMIM:610978 ORPHA:466650 OMIM:619611 OMIM:614742

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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