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

Grandparent Node:
Abnormal fingernail morphology (HP:0001231)

Grandparent Node:
Small nail (HP:0001792)

Parent Node:
Hypoplastic fingernail (HP:0001804)

..Starting node
..Hypoplastic fifth fingernail (HP:0008398)

Term ID:

8398

Name:

Hypoplastic fifth fingernail

Synonym:

Underdeveloped fifth fingernail; Underdeveloped fingernail of little finger; Underdeveloped fingernail of pinkie finger; Underdeveloped fingernail of pinky finger

Definition:

A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.

Comments:

Reference:

HP:0008398

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic thumbnail (HP:0012553)

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:0008398	HP:0008398	Hypoplastic fifth fingernail	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3		3
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0008398	HP:0008398	Hypoplastic fifth fingernail	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent

Genes (13) :ARID1A ARID1B ARID2 DPF2 PIGF RBPJ SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4

Diseases (5) :ORPHA:1465 OMIM:135900 OMIM:619356 OMIM:614814 OMIM:615866

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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