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:
Aplasia/Hypoplasia of the cerebrum (HP:0007364)

Parent Node:
Anencephaly (HP:0002323)

..Starting node
..Arrhinencephaly (HP:0002139)

Term ID:

2139

Name:

Arrhinencephaly

Synonym:

Definition:

Comments:

Reference:

HP:0002139

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hydranencephaly (HP:0002324)

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:0002139	HP:0002139	Arrhinencephaly	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	116
HP:0002139	HP:0002139	Arrhinencephaly	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0002139	HP:0002139	Arrhinencephaly	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0002139	HP:0002139	Arrhinencephaly	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0002139	HP:0002139	Arrhinencephaly	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0002139	HP:0002139	Arrhinencephaly	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002139	HP:0002139	Arrhinencephaly	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0002139	HP:0002139	Arrhinencephaly	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0002139	HP:0002139	Arrhinencephaly	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0002139	HP:0002139	Arrhinencephaly	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040283 - Occasional	3
HP:0002139	HP:0002139	Arrhinencephaly	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0002139	HP:0002139	Arrhinencephaly	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0002139	HP:0002139	Arrhinencephaly	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0002139	HP:0002139	Arrhinencephaly	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040283 - Occasional	31
HP:0002139	HP:0002139	Arrhinencephaly	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0002139	HP:0002139	Arrhinencephaly	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	28
HP:0002139	HP:0002139	Arrhinencephaly	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0002139	HP:0002139	Arrhinencephaly	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040283 - Occasional	167
HP:0002139	HP:0002139	Arrhinencephaly	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent
HP:0002139	HP:0002139	Arrhinencephaly	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	33
HP:0002139	HP:0002139	Arrhinencephaly	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	34
HP:0002139	HP:0002139	Arrhinencephaly	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	60
HP:0002139	HP:0002139	Arrhinencephaly	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent
HP:0002139	HP:0002139	Arrhinencephaly	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002139	HP:0002139	Arrhinencephaly	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	55
HP:0002139	HP:0002139	Arrhinencephaly	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002139	HP:0002139	Arrhinencephaly	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040282 - Frequent	49
HP:0002139	HP:0002139	Arrhinencephaly	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional	15
HP:0002139	HP:0002139	Arrhinencephaly	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0002139	HP:0002139	Arrhinencephaly	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0002139	HP:0002139	Arrhinencephaly	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0002139	HP:0002139	Arrhinencephaly	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040281 - Very frequent	56
HP:0002139	HP:0002139	Arrhinencephaly	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002139	HP:0002139	Arrhinencephaly	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0002139	HP:0002139	Arrhinencephaly	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040283 - Occasional	111

Genes (33) :ADAR ARVCF ATP6V1B2 CHD7 COMT CPLANE1 FANCB FIG4 FUZ GLI3 GP1BB HIRA HYLS1 IFIH1 JMJD1C KIF7 LSM11 RNASEH2A RNASEH2B RNASEH2C RNU7-1 RREB1 SAMHD1 SEC24C SF3B4 SMOC1 TBC1D24 TBX1 TCTN3 TREX1 UFD1 VAC14 VANGL1

Diseases (15) :ORPHA:51 ORPHA:567 ORPHA:79500 OMIM:214800 OMIM:277170 ORPHA:3412 ORPHA:3472 OMIM:216340 ORPHA:3027 ORPHA:672 ORPHA:2189 OMIM:236680 ORPHA:1788 ORPHA:1106 OMIM:614815

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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