Human Phenotype Ontology

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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 nasal morphology (HP:0005105)

Parent Node:
Midline defect of the nose (HP:0004122)

..Starting node
..Bifid nose (HP:0011803)

Term ID:

11803

Name:

Bifid nose

Synonym:

Bifid nasal bridge; Cleft nasal bridge; Cleft nose; Indentation or clefting of the nose; Indented bridge of nose

Definition:

Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.

Comments:

Reference:

HP:0011803

Genes and Diseases:

Child Nodes:

Sister Nodes:

Midline nasal groove (HP:0004112)

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:0011803	HP:0011803	Bifid nose	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0011803	HP:0011803	Bifid nose	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0011803	HP:0011803	Bifid nose	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent	132
HP:0011803	HP:0011803	Bifid nose	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0011803	HP:0011803	Bifid nose	0	FREM1 CL E G H	158326	23399	ORPHA:217266	BNAR syndrome	HP:0040280 - Obligate	198
HP:0011803	HP:0011803	Bifid nose	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0011803	HP:0011803	Bifid nose	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040283 - Occasional	1952
HP:0011803	HP:0011803	Bifid nose	0	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0011803	HP:0011803	Bifid nose	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0011803	HP:0011803	Bifid nose	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0011803	HP:0011803	Bifid nose	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0011803	HP:0011803	Bifid nose	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5

Genes (10) :ALX1 ALX3 ALX4 FREM1 HYLS1 NF1 NUAK2 TBX4 TFE3 ZSWIM6

Diseases (12) :ORPHA:306542 OMIM:136760 ORPHA:228390 OMIM:608980 ORPHA:217266 OMIM:236680 ORPHA:139474 OMIM:619452 ORPHA:261279 OMIM:301066 OMIM:603671 ORPHA:1827

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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