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 voice (HP:0001608)

Parent Node:
Hoarse voice (HP:0001609)

..Starting node
..Hoarse cry (HP:0001615)

Term ID:

1615

Name:

Hoarse cry

Synonym:

Hoarse cry

Definition:

Comments:

Reference:

HP:0001615

Genes and Diseases:

Child Nodes:

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:0001615	HP:0001615	Hoarse cry	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent	78
HP:0001615	HP:0001615	Hoarse cry	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0001615	HP:0001615	Hoarse cry	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001615	HP:0001615	Hoarse cry	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional	121
HP:0001615	HP:0001615	Hoarse cry	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0001615	HP:0001615	Hoarse cry	0	KRT14 CL E G H	3861	6416	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		110
HP:0001615	HP:0001615	Hoarse cry	0	KRT5 CL E G H	3852	6442	OMIM:131760	Epidermolysis bullosa simplex, Dowling-Meara type		173
HP:0001615	HP:0001615	Hoarse cry	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.	116
HP:0001615	HP:0001615	Hoarse cry	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0001615	HP:0001615	Hoarse cry	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0001615	HP:0001615	Hoarse cry	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0001615	HP:0001615	Hoarse cry	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001615	HP:0001615	Hoarse cry	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0001615	HP:0001615	Hoarse cry	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent	37
HP:0001615	HP:0001615	Hoarse cry	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001615	HP:0001615	Hoarse cry	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0001615	HP:0001615	Hoarse cry	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9

Genes (14) :ASAH1 DLK1 DUOX2 EZH2 KRT14 KRT5 LAMA3 LAMB3 LAMC2 MEG3 PAX8 PIGN RTL1 TSHB

Diseases (12) :ORPHA:333 OMIM:228000 ORPHA:96334 ORPHA:226316 OMIM:277590 OMIM:131760 OMIM:245660 ORPHA:79404 OMIM:218700 ORPHA:280633 OMIM:275100 ORPHA:90674

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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