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 hand morphology (HP:0005922)

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

Grandparent Node:
Short digit (HP:0011927)

Parent Node:
Aplasia/Hypoplasia of the 3rd finger (HP:0009318)

Parent Node:
Short finger (HP:0009381)

..Starting node
..Short 3rd finger (HP:0009461)

Term ID:

9461

Name:

Short 3rd finger

Synonym:

Hypoplastic/small 3rd finger; Short 3rd finger; Short middle finger

Definition:

Hypoplastic/small 3rd (middle) finger.

Comments:

Reference:

HP:0009461

Genes and Diseases:

Child Nodes:

........

Short distal phalanx of the 3rd finger (HP:0004180)

........

Short middle phalanx of the 3rd finger (HP:0009439)

........

Short proximal phalanx of the 3rd finger (HP:0009459)

Sister Nodes:

Short 2nd finger (HP:0009536)

Short 4th finger (HP:0009280)

Short 5th finger (HP:0009237)

Short distal phalanx of finger (HP:0009882)

Short middle phalanx of finger (HP:0005819)

Short proximal phalanx of finger (HP:0010241)

Short thumb (HP:0009778)

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:0009461	HP:0009461	Short 3rd finger	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009461	HP:0009461	Short 3rd finger	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009461	HP:0009461	Short 3rd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040281 - Very frequent	52
HP:0009461	HP:0009461	Short 3rd finger	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009461	HP:0009459	Short proximal phalanx of the 3rd finger	1	CL E G H
HP:0009461	HP:0004180	Short distal phalanx of the 3rd finger	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009461	HP:0009439	Short middle phalanx of the 3rd finger	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009461	HP:0009439	Short middle phalanx of the 3rd finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009461	HP:0004180	Short distal phalanx of the 3rd finger	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional	101

Genes (3) :COL2A1 GDF5 GNAS

Diseases (4) :OMIM:271700 OMIM:615072 OMIM:113100 ORPHA:79445

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