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 thumb phalanx (HP:0009602)

Grandparent Node:
Broad phalanges of the hand (HP:0009768)

Parent Node:
Broad thumb (HP:0011304)

..Starting node
..Spatulate thumbs (HP:0001222)

Term ID:

1222

Name:

Spatulate thumbs

Synonym:

Spoon shaped thumbs

Definition:

Spoon-shaped, broad thumbs.

Comments:

Reference:

HP:0001222

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad distal phalanx of the thumb (HP:0009642)

Broad proximal phalanx of the thumb (HP:0009630)

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:0001222	HP:0001222	Spatulate thumbs	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	5
HP:0001222	HP:0001222	Spatulate thumbs	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	165
HP:0001222	HP:0001222	Spatulate thumbs	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233

Genes (3) :B3GAT3 CHST3 FLNB

Diseases (2) :OMIM:245600 OMIM:150250

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