Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Aplasia/Hypoplasia of the nails (HP:0008386)

Parent Node:
Anonychia (HP:0001798)

..Starting node
..Absent fingernail (HP:0001817)

Term ID:

1817

Name:

Absent fingernail

Synonym:

Absent fingernail; Anonychia of fingernails; Aplasia of the fingernail

Definition:

Absence of a fingernail.

Comments:

Reference:

HP:0001817

Genes and Diseases:

Child Nodes:

........

Absent thumbnail (HP:0012554)

........

Absent fifth fingernail (HP:0200104)

Sister Nodes:

Absent toenail (HP:0001802)

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:0001817	HP:0001817	Absent fingernail	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent	3179
HP:0001817	HP:0001817	Absent fingernail	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0001817	HP:0001817	Absent fingernail	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0001817	HP:0001817	Absent fingernail	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0001817	HP:0001817	Absent fingernail	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040281 - Very frequent	5
HP:0001817	HP:0001817	Absent fingernail	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0001817	HP:0001817	Absent fingernail	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	5
HP:0001817	HP:0001817	Absent fingernail	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	5
HP:0001817	HP:0001817	Absent fingernail	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	5
HP:0001817	HP:0001817	Absent fingernail	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0001817	HP:0001817	Absent fingernail	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0001817	HP:0001817	Absent fingernail	0	COL7A1 CL E G H	1294	2214	ORPHA:231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	HP:0040283 - Occasional	263
HP:0001817	HP:0001817	Absent fingernail	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0001817	HP:0001817	Absent fingernail	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0001817	HP:0001817	Absent fingernail	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0001817	HP:0001817	Absent fingernail	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0001817	HP:0001817	Absent fingernail	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0001817	HP:0001817	Absent fingernail	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0001817	HP:0001817	Absent fingernail	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0001817	HP:0001817	Absent fingernail	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0001817	HP:0001817	Absent fingernail	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0001817	HP:0001817	Absent fingernail	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0001817	HP:0001817	Absent fingernail	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0001817	HP:0001817	Absent fingernail	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0001817	HP:0001817	Absent fingernail	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0001817	HP:0001817	Absent fingernail	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0001817	HP:0001817	Absent fingernail	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	13
HP:0001817	HP:0001817	Absent fingernail	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040282 - Frequent	7
HP:0001817	HP:0001817	Absent fingernail	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040281 - Very frequent	124
HP:0001817	HP:0001817	Absent fingernail	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0001817	HP:0001817	Absent fingernail	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0001817	HP:0001817	Absent fingernail	0	NOG CL E G H	9241	7866	ORPHA:140908	Brachydactyly type B2	HP:0040281 - Very frequent	22
HP:0001817	HP:0001817	Absent fingernail	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0001817	HP:0001817	Absent fingernail	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0001817	HP:0001817	Absent fingernail	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0001817	HP:0001817	Absent fingernail	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0001817	HP:0001817	Absent fingernail	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0001817	HP:0001817	Absent fingernail	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0001817	HP:0001817	Absent fingernail	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0001817	HP:0001817	Absent fingernail	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0001817	HP:0001817	Absent fingernail	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0001817	HP:0001817	Absent fingernail	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0001817	HP:0001817	Absent fingernail	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	271
HP:0001817	HP:0001817	Absent fingernail	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0001817	HP:0033975	Absent second fingernail	1	CL E G H
HP:0001817	HP:0200104	Absent fifth fingernail	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0001817	HP:0012554	Absent thumbnail	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0001817	HP:0012554	Absent thumbnail	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional	5
HP:0001817	HP:0200104	Absent fifth fingernail	1	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional	5
HP:0001817	HP:0200104	Absent fifth fingernail	1	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0001817	HP:0012554	Absent thumbnail	1	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0001817	HP:0012554	Absent thumbnail	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0001817	HP:0012554	Absent thumbnail	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0001817	HP:0012554	Absent thumbnail	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0001817	HP:0012554	Absent thumbnail	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0001817	HP:0012554	Absent thumbnail	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0001817	HP:0012554	Absent thumbnail	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0001817	HP:0012554	Absent thumbnail	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0001817	HP:0012554	Absent thumbnail	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0001817	HP:0012554	Absent thumbnail	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0001817	HP:0012554	Absent thumbnail	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0001817	HP:0012554	Absent thumbnail	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0001817	HP:0012554	Absent thumbnail	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0001817	HP:0012554	Absent thumbnail	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0001817	HP:0012554	Absent thumbnail	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0001817	HP:0012554	Absent thumbnail	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0001817	HP:0012554	Absent thumbnail	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0001817	HP:0012554	Absent thumbnail	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1

Genes (39) :APC ARHGAP31 ARID1A ARX ATP6V1B2 BCR CASK CDKL5 COL7A1 CRKL DLL4 DMXL2 DOCK6 DSP EOGT FIG4 GNAO1 GRIN1 GRM7 JUP KCNA1 KCNH1 KCNN3 LRP4 MAPK1 NEUROD2 NOG NOTCH1 PIGP PIGQ PNKP PORCN RBPJ SCN1B SCN2A SIK1 SLC25A22 TBC1D24 TRIM8

Diseases (16) :ORPHA:3258 ORPHA:974 OMIM:614607 ORPHA:1934 ORPHA:79499 OMIM:124480 ORPHA:79500 ORPHA:3473 ORPHA:261330 ORPHA:231568 OMIM:609638 ORPHA:158687 OMIM:216340 OMIM:611816 ORPHA:140908 OMIM:305600

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen