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:
Abnormality of finger (HP:0001167)

Grandparent Node:
Aplasia/hypoplasia involving bones of the hand (HP:0005927)

Parent Node:
Abnormal 3rd finger morphology (HP:0004150)

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

..Starting node
..Aplasia/Hypoplasia of the 3rd finger (HP:0009318)

Term ID:

9318

Name:

Aplasia/Hypoplasia of the 3rd finger

Synonym:

Absent/small middle finger; Absent/underdeveloped middle finger

Definition:

A small/hypoplastic or absent/aplastic 3rd (middle) finger.

Comments:

Reference:

HP:0009318

Genes and Diseases:

Child Nodes:

........

Aplasia of the 3rd finger (HP:0009460)

................... HP:0009429 Aplasia of the distal phalanx of the 3rd finger
................... HP:0009438 Absent middle phalanx of 3rd finger
................... HP:0009458 Aplasia of the proximal phalanx of the 3rd finger

........

Short 3rd finger (HP:0009461)

................... HP:0004180 Short distal phalanx of the 3rd finger
................... HP:0009439 Short middle phalanx of the 3rd finger
................... HP:0009459 Short proximal phalanx of the 3rd finger

Sister Nodes:

Aplasia of the fingers (HP:0009380)

Aplasia/Hypoplasia of the 2nd finger (HP:0006264)

Aplasia/Hypoplasia of the 4th finger (HP:0009272)

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

Aplasia/Hypoplasia of the thumb (HP:0009601)

Proportionate shortening of all digits (HP:0006165)

Short finger (HP:0009381)

Small finger (HP:0030033)

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:0009318	HP:0009318	Aplasia/Hypoplasia of the 3rd finger	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009318	HP:0009318	Aplasia/Hypoplasia of the 3rd finger	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0009318	HP:0009318	Aplasia/Hypoplasia of the 3rd finger	0	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009318	HP:0009318	Aplasia/Hypoplasia of the 3rd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009318	HP:0009318	Aplasia/Hypoplasia of the 3rd finger	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009318	HP:0009318	Aplasia/Hypoplasia of the 3rd finger	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009318	HP:0009318	Aplasia/Hypoplasia of the 3rd finger	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0009318	HP:0009461	Short 3rd finger	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0009318	HP:0009460	Aplasia of the 3rd finger	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0009318	HP:0009461	Short 3rd finger	1	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009318	HP:0009461	Short 3rd finger	1	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040281 - Very frequent	52
HP:0009318	HP:0009461	Short 3rd finger	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism		101
HP:0009318	HP:0009460	Aplasia of the 3rd finger	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009318	HP:0009460	Aplasia of the 3rd finger	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0009318	HP:0009459	Short proximal phalanx of the 3rd finger	2	CL E G H
HP:0009318	HP:0009458	Aplasia of the proximal phalanx of the 3rd finger	2	CL E G H
HP:0009318	HP:0004180	Short distal phalanx of the 3rd finger	2	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0009318	HP:0009439	Short middle phalanx of the 3rd finger	2	GDF5 CL E G H	8200	4220	OMIM:615072	Brachydactyly, type A1, C		52
HP:0009318	HP:0009439	Short middle phalanx of the 3rd finger	2	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C		52
HP:0009318	HP:0004180	Short distal phalanx of the 3rd finger	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional	101
HP:0009318	HP:0009438	Absent middle phalanx of 3rd finger	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0009318	HP:0009429	Aplasia of the distal phalanx of the 3rd finger	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34

Genes (6) :COL2A1 EN1 GDF5 GNAS NSDHL TBX3

Diseases (7) :OMIM:271700 OMIM:619218 OMIM:615072 OMIM:113100 ORPHA:79445 OMIM:308050 OMIM:181450

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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