Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 2nd finger (HP:0009468)

Parent Node:
Finger clinodactyly (HP:0040019)

..Starting node
..Clinodactyly of the 2nd finger (HP:0040022)

Term ID:

40022

Name:

Clinodactyly of the 2nd finger

Synonym:

Curvature of index finger; Second finger clinodactyly

Definition:

Comments:

Reference:

HP:0040022

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clinodactyly of the 3rd finger (HP:0040024)

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:0040022	HP:0040022	Clinodactyly of the 2nd finger	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0040022	HP:0040022	Clinodactyly of the 2nd finger	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0040022	HP:0040022	Clinodactyly of the 2nd finger	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0040022	HP:0040022	Clinodactyly of the 2nd finger	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0040022	HP:0040022	Clinodactyly of the 2nd finger	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0040022	HP:0040022	Clinodactyly of the 2nd finger	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0040022	HP:0040022	Clinodactyly of the 2nd finger	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9

Genes (7) :CHSY1 CSGALNACT1 HNRNPR IFT140 KNSTRN MED12 PIK3CD

Diseases (6) :ORPHA:363417 OMIM:618870 OMIM:620073 OMIM:266920 ORPHA:221139 ORPHA:93932

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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