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:
Abnormal phalangeal joint morphology of the hand (HP:0006261)

Grandparent Node:
Camptodactyly (HP:0012385)

Grandparent Node:
Interphalangeal joint contracture of finger (HP:0001220)

Parent Node:
Camptodactyly of finger (HP:0100490)

..Starting node
..Bilateral camptodactyly (HP:0005617)

Term ID:

5617

Name:

Bilateral camptodactyly

Synonym:

Definition:

Comments:

Reference:

HP:0005617

Genes and Diseases:

Child Nodes:

Sister Nodes:

Camptodactyly of 2nd-5th fingers (HP:0001215)

Congenital finger flexion contractures (HP:0005879)

Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)

Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)

Contracture of the proximal interphalangeal joint of the 4th finger (HP:0009276)

Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185)

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:0005617	HP:0005617	Bilateral camptodactyly	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0005617	HP:0005617	Bilateral camptodactyly	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0005617	HP:0005617	Bilateral camptodactyly	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0005617	HP:0005617	Bilateral camptodactyly	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0005617	HP:0005617	Bilateral camptodactyly	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0005617	HP:0005617	Bilateral camptodactyly	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68

Genes (6) :APC2 FBXO28 NSD1 POLR3GL SETD2 ZNF407

Diseases (4) :ORPHA:821 OMIM:619777 OMIM:619234 OMIM:619557

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