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

..Starting node
..Simple ear (HP:0020206)

Term ID:

20206

Name:

Simple ear

Synonym:

Definition:

The pinna has fewer folds and grooves than usual.

Comments:

Reference:

HP:0020206

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:0020206	HP:0020206	Simple ear	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0020206	HP:0020206	Simple ear	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0020206	HP:0020206	Simple ear	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0020206	HP:0020206	Simple ear	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0020206	HP:0020206	Simple ear	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0020206	HP:0020206	Simple ear	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0020206	HP:0020206	Simple ear	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0020206	HP:0020206	Simple ear	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0020206	HP:0020206	Simple ear	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0020206	HP:0020206	Simple ear	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0020206	HP:0020206	Simple ear	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0020206	HP:0020206	Simple ear	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0020206	HP:0020206	Simple ear	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0020206	HP:0020206	Simple ear	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0020206	HP:0020206	Simple ear	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7

Genes (15) :BICRA CAPN15 CREBBP DDB1 DHX16 EP300 EXOC2 GJA5 GJA8 NSRP1 POR SH3PXD2B SMARCD2 WDR35 YY1

Diseases (13) :OMIM:619325 OMIM:619318 OMIM:180849 OMIM:619426 OMIM:618733 OMIM:619306 OMIM:612474 OMIM:620001 OMIM:201750 OMIM:249420 OMIM:617475 OMIM:613610 OMIM:617557

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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