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 external nose morphology (HP:0010938)

Parent Node:
Abnormal morphology of the nasal alae (HP:0000429)

..Starting node
..Thick nasal alae (HP:0009928)

Term ID:

9928

Name:

Thick nasal alae

Synonym:

Ala nasi, thick; Thickening of the alae nasi

Definition:

Increase in bulk of the ala nasi.

Comments:

Reference:

HP:0009928

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anteverted nares (HP:0000463)

Cartilaginous ossification of nose (HP:0005275)

Cleft ala nasi (HP:0003191)

Flared nostrils (HP:0000454)

Flat nasal alae (HP:0010649)

Underdeveloped nasal alae (HP:0000430)

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:0009928	HP:0009928	Thick nasal alae	0	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	HP:0040283 - Occasional	1
HP:0009928	HP:0009928	Thick nasal alae	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0009928	HP:0009928	Thick nasal alae	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0009928	HP:0009928	Thick nasal alae	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0009928	HP:0009928	Thick nasal alae	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0009928	HP:0009928	Thick nasal alae	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0009928	HP:0009928	Thick nasal alae	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0009928	HP:0009928	Thick nasal alae	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0009928	HP:0009928	Thick nasal alae	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0009928	HP:0009928	Thick nasal alae	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0009928	HP:0009928	Thick nasal alae	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0009928	HP:0009928	Thick nasal alae	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0009928	HP:0009928	Thick nasal alae	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0009928	HP:0009928	Thick nasal alae	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0009928	HP:0009928	Thick nasal alae	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0009928	HP:0009928	Thick nasal alae	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0009928	HP:0009928	Thick nasal alae	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0009928	HP:0009928	Thick nasal alae	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0009928	HP:0009928	Thick nasal alae	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0009928	HP:0009928	Thick nasal alae	0	MED12 CL E G H	9968	11957	ORPHA:293707	Blepharophimosis-intellectual disability syndrome, MKB type	HP:0040282 - Frequent	228
HP:0009928	HP:0009928	Thick nasal alae	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0009928	HP:0009928	Thick nasal alae	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040283 - Occasional	1952
HP:0009928	HP:0009928	Thick nasal alae	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0009928	HP:0009928	Thick nasal alae	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0009928	HP:0009928	Thick nasal alae	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0009928	HP:0009928	Thick nasal alae	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0009928	HP:0009928	Thick nasal alae	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0009928	HP:0009928	Thick nasal alae	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0009928	HP:0009928	Thick nasal alae	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0009928	HP:0009928	Thick nasal alae	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0009928	HP:0009928	Thick nasal alae	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent	146
HP:0009928	HP:0009928	Thick nasal alae	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0009928	HP:0009928	Thick nasal alae	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.	617
HP:0009928	HP:0009928	Thick nasal alae	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0009928	HP:0009928	Thick nasal alae	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0009928	HP:0009928	Thick nasal alae	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0009928	HP:0009928	Thick nasal alae	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0009928	HP:0009928	Thick nasal alae	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0009928	HP:0009928	Thick nasal alae	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0009928	HP:0009928	Thick nasal alae	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0009928	HP:0009928	Thick nasal alae	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0009928	HP:0009928	Thick nasal alae	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0009928	HP:0009928	Thick nasal alae	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5

Genes (38) :ABCA5 AKT1 ANKRD17 ANTXR1 AP2M1 ARID1A ARID1B ARID2 ARSL CCNK CHD2 DPF2 EXT1 H4C5 KANSL1 KCNH1 MED12 NEXMIF NF1 PIK3C2A PTEN RHOA RPS6KA3 SCN1A SCNM1 SLC2A1 SLC6A1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SYNGAP1 TRPS1 ZSWIM6

Diseases (25) :OMIM:135400 ORPHA:744 OMIM:619504 ORPHA:2067 ORPHA:1942 ORPHA:1465 ORPHA:79345 OMIM:618147 OMIM:618027 ORPHA:502 OMIM:619950 ORPHA:363958 ORPHA:363965 ORPHA:420561 OMIM:611816 ORPHA:293707 ORPHA:139474 ORPHA:557003 OMIM:618727 ORPHA:192 OMIM:620107 ORPHA:3051 OMIM:614609 OMIM:616938 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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