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:
Cutaneous syndactyly (HP:0012725)

Grandparent Node:
Finger syndactyly (HP:0006101)

Parent Node:
Cutaneous finger syndactyly (HP:0010554)

..Starting node
..3-4 finger cutaneous syndactyly (HP:0011939)

Term ID:

11939

Name:

3-4 finger cutaneous syndactyly

Synonym:

Definition:

A soft tissue continuity in the A/P axis between fingers 3 and 4.

Comments:

Reference:

HP:0011939

Genes and Diseases:

Child Nodes:

Sister Nodes:

1-5 finger complete cutaneous syndactyly (HP:0006088)

2-5 finger cutaneous syndactyly (HP:0005650)

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:0011939	HP:0011939	3-4 finger cutaneous syndactyly	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0011939	HP:0011939	3-4 finger cutaneous syndactyly	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0011939	HP:0011939	3-4 finger cutaneous syndactyly	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011939	HP:0011939	3-4 finger cutaneous syndactyly	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0011939	HP:0011939	3-4 finger cutaneous syndactyly	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0011939	HP:0011939	3-4 finger cutaneous syndactyly	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional	140

Genes (6) :CACNA1C GLI3 H4C9 KAT6A KCTD1 TP63

Diseases (6) :OMIM:620029 ORPHA:672 OMIM:619951 OMIM:616268 OMIM:181270 ORPHA:69085

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