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:
Short distal phalanx of finger (HP:0009882)

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

Term ID:

6118

Name:

Shortening of all distal phalanges of the fingers

Synonym:

Brachytelephalangy; Shortening of all outermost bones of the fingers

Definition:

Hypoplasia of all of the distal phalanx of finger.

Comments:

Reference:

HP:0006118

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 5th finger (HP:0004227)

Short distal phalanx of the thumb (HP:0009650)

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:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	8
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	20
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	36
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	84
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	57
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	6
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0006118	HP:0006118	Shortening of all distal phalanges of the fingers	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3

Genes (12) :ALG6 BRF1 PGAP2 PGAP3 PHF6 PIGL PIGO PIGV PIGW PIGY POR VPS35L

Diseases (8) :ORPHA:79320 OMIM:616202 ORPHA:247262 OMIM:301900 OMIM:614749 OMIM:616809 ORPHA:95699 OMIM:619135

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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