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 tracheobronchial morphology (HP:0005607)

Parent Node:
Abnormal bronchus morphology (HP:0025426)

..Starting node
..Bronchomalacia (HP:0002780)

Term ID:

2780

Name:

Bronchomalacia

Synonym:

Definition:

Weakness or softness of the cartilage in the walls of the bronchial tubes.

Comments:

Reference:

HP:0002780

Genes and Diseases:

Child Nodes:

........

Tracheobronchomalacia (HP:0002786)

Sister Nodes:

Bronchial atresia (HP:0030715)

Bronchial cartilage hypoplasia (HP:0006539)

Bronchial neoplasm (HP:0030077)

Bronchiectasis (HP:0002110)

Bronchodysplasia (HP:0006533)

Bronchomegaly (HP:0010777)

Recurrent bronchitis (HP:0002837)

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:0002780	HP:0002780	Bronchomalacia	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0002780	HP:0002780	Bronchomalacia	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome		12
HP:0002780	HP:0002780	Bronchomalacia	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0002780	HP:0002780	Bronchomalacia	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0002780	HP:0002780	Bronchomalacia	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0002780	HP:0002780	Bronchomalacia	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0002780	HP:0002780	Bronchomalacia	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0002780	HP:0002780	Bronchomalacia	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0002780	HP:0002780	Bronchomalacia	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002780	HP:0002780	Bronchomalacia	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002780	HP:0002780	Bronchomalacia	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	110
HP:0002780	HP:0002780	Bronchomalacia	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	173
HP:0002780	HP:0002780	Bronchomalacia	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0002780	HP:0002780	Bronchomalacia	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0002780	HP:0002780	Bronchomalacia	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0002780	HP:0002780	Bronchomalacia	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0002780	HP:0002780	Bronchomalacia	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0002780	HP:0002780	Bronchomalacia	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0002780	HP:0002780	Bronchomalacia	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002780	HP:0002780	Bronchomalacia	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0002780	HP:0002780	Bronchomalacia	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0002780	HP:0002780	Bronchomalacia	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0002780	HP:0002780	Bronchomalacia	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0002780	HP:0002780	Bronchomalacia	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002780	HP:0002780	Bronchomalacia	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002780	HP:0002786	Tracheobronchomalacia	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0002780	HP:0002786	Tracheobronchomalacia	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0002780	HP:0002786	Tracheobronchomalacia	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0002780	HP:0002786	Tracheobronchomalacia	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002780	HP:0002786	Tracheobronchomalacia	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0002780	HP:0002786	Tracheobronchomalacia	1	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0002780	HP:0002786	Tracheobronchomalacia	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0002780	HP:0002786	Tracheobronchomalacia	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0002780	HP:0002786	Tracheobronchomalacia	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109
HP:0002780	HP:0033990	Cartilaginous tracheobronchomalacia	2	CL E G H
HP:0002780	HP:0033979	Excessive dynamic airway collapse	2	CL E G H

Genes (23) :EHMT1 ERF FGFR1 FGFR2 FLNB GMNN HRAS IDS IL6ST KAT6A KRT14 KRT5 LTBP4 MYH11 MYRF ORC4 ORC6 POR RAC1 SCUBE3 SLC26A2 SOX9 ZNF699

Diseases (23) :OMIM:610253 OMIM:617180 OMIM:101600 OMIM:150250 OMIM:616835 OMIM:218040 OMIM:309900 OMIM:619752 OMIM:616268 ORPHA:79396 OMIM:613177 OMIM:619351 OMIM:618280 OMIM:613800 OMIM:613803 OMIM:201750 OMIM:617751 ORPHA:500159 OMIM:619184 ORPHA:56304 ORPHA:140 OMIM:114290 OMIM:619488

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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