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:
Aplasia/Hypoplasia of the distal phalanges of the hand (HP:0009835)

Grandparent Node:
Short finger (HP:0009381)

Grandparent Node:
Short phalanx of finger (HP:0009803)

Parent Node:
Aplasia/Hypoplasia of the distal phalanx of the 5th finger (HP:0009239)

Parent Node:
Short 5th finger (HP:0009237)

Parent Node:
Short distal phalanx of finger (HP:0009882)

..Starting node
..Short distal phalanx of the 5th finger (HP:0004227)

Term ID:

4227

Name:

Short distal phalanx of the 5th finger

Synonym:

Brachytelophalangism V; Fifth digit distal phalangeal hypoplasia; Hypoplastic/small terminal phalanx of the little finger; Short distal phalanx of the fifth finger; Short outermost little finger bone; Short outermost pinkie finger bone; Short outermost pinky finger bone

Definition:

Hypoplastic/small distal phalanx of the fifth finger.

Comments:

Reference:

HP:0004227

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short distal phalanx of the 2nd finger (HP:0009566)

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

Short distal phalanx of the 4th finger (HP:0009290)

Short distal phalanx of the thumb (HP:0009650)

Shortening of all distal phalanges of the fingers (HP:0006118)

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:0004227	HP:0004227	Short distal phalanx of the 5th finger	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0004227	HP:0004227	Short distal phalanx of the 5th finger	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0004227	HP:0004227	Short distal phalanx of the 5th finger	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0004227	HP:0004227	Short distal phalanx of the 5th finger	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0004227	HP:0004227	Short distal phalanx of the 5th finger	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0004227	HP:0004227	Short distal phalanx of the 5th finger	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87

Genes (6) :ARID1B COL2A1 H19-ICR HNRNPR IGF2 SMARCB1

Diseases (5) :OMIM:135900 OMIM:271700 OMIM:180860 OMIM:620073 OMIM:614608

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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