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 phalanges of the hand (HP:0009767)

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

..Starting node
..Shortening of all phalanges of fingers (HP:0011910)

Term ID:

11910

Name:

Shortening of all phalanges of fingers

Synonym:

Shortening of all finger bones

Definition:

Abnormal reduction in length affecting all phalanges.

Comments:

Reference:

HP:0011910

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short distal phalanx of finger (HP:0009882)

Short middle phalanx of finger (HP:0005819)

Short pointed phalanges (HP:0006045)

Short proximal phalanx of finger (HP:0010241)

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:0011910	HP:0011910	Shortening of all phalanges of fingers	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0011910	HP:0011910	Shortening of all phalanges of fingers	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0011910	HP:0011910	Shortening of all phalanges of fingers	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent	171

Genes (3) :CDH11 SOX9 TRPS1

Diseases (3) :OMIM:211380 OMIM:114290 ORPHA:77258

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