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:
Clinodactyly (HP:0030084)

Grandparent Node:
Deviation of finger (HP:0004097)

Parent Node:
Deviation of the 3rd finger (HP:0009317)

Parent Node:
Finger clinodactyly (HP:0040019)

..Starting node
..Clinodactyly of the 3rd finger (HP:0040024)

Term ID:

40024

Name:

Clinodactyly of the 3rd finger

Synonym:

Curvature of middle finger

Definition:

Comments:

Reference:

HP:0040024

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clinodactyly of the 2nd finger (HP:0040022)

Clinodactyly of the 4th finger (HP:0040025)

Clinodactyly of the 5th finger (HP:0004209)

Clinodactyly of the thumb (HP:0040023)

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:0040024	HP:0040024	Clinodactyly of the 3rd finger	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0040024	HP:0040024	Clinodactyly of the 3rd finger	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0040024	HP:0040024	Clinodactyly of the 3rd finger	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0040024	HP:0040024	Clinodactyly of the 3rd finger	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0040024	HP:0040024	Clinodactyly of the 3rd finger	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0040024	HP:0040024	Clinodactyly of the 3rd finger	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional

Genes (6) :DLK1 KNSTRN MEG3 PIK3CD PKDCC RTL1

Diseases (3) :ORPHA:96334 ORPHA:221139 OMIM:618821

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