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 5th finger morphology (HP:0004207)

Grandparent Node:
Aplasia/Hypoplasia of fingers (HP:0006265)

Parent Node:
Aplasia of the fingers (HP:0009380)

Parent Node:
Aplasia/Hypoplasia of the 5th finger (HP:0006262)

..Starting node
..Aplasia of the 5th finger (HP:0009238)

Term ID:

9238

Name:

Aplasia of the 5th finger

Synonym:

Absent little finger; Absent pinkie finger; Absent pinky finger

Definition:

Absent 5th (little) finger.

Comments:

Reference:

HP:0009238

Genes and Diseases:

Child Nodes:

........

Absent middle phalanx of 5th finger (HP:0009162)

........

Aplasia of the proximal phalanx of the 5th finger (HP:0009225)

........

Aplasia of the distal phalanx of the 5th finger (HP:0009246)

Sister Nodes:

Partial-complete absence of 5th phalanges (HP:0006209)

Short 5th finger (HP:0009237)

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:0009238	HP:0009238	Aplasia of the 5th finger	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0009238	HP:0009238	Aplasia of the 5th finger	0	GJA1 CL E G H	2697	4274	OMIM:186100	Syndactyly, type III		68
HP:0009238	HP:0009238	Aplasia of the 5th finger	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0009238	HP:0009238	Aplasia of the 5th finger	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0009238	HP:0009246	Aplasia of the distal phalanx of the 5th finger	1	CL E G H
HP:0009238	HP:0009225	Aplasia of the proximal phalanx of the 5th finger	1	CL E G H
HP:0009238	HP:0009162	Absent middle phalanx of 5th finger	1	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0009238	HP:0009162	Absent middle phalanx of 5th finger	1	GJA1 CL E G H	2697	4274	OMIM:186100	Syndactyly, type III	.	68
HP:0009238	HP:0009162	Absent middle phalanx of 5th finger	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148

Genes (4) :ATP6V1B2 GJA1 IFT140 TBX3

Diseases (4) :OMIM:124480 OMIM:186100 OMIM:266920 OMIM:181450

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