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 the phalanges of the toes (HP:0010161)

Grandparent Node:
Aplasia/Hypoplasia involving bones of the feet (HP:0006494)

Parent Node:
Abnormality of the phalanges of the 5th toe (HP:0010342)

Parent Node:
Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)

..Starting node
..Aplasia/Hypoplasia of the phalanges of the 5th toe (HP:0010383)

Term ID:

10383

Name:

Aplasia/Hypoplasia of the phalanges of the 5th toe

Synonym:

Absent/small little toe bones; Absent/small pinkie toe bones; Absent/small pinky toe bones; Absent/underdeveloped pinky toe bones

Definition:

Comments:

Reference:

HP:0010383

Genes and Diseases:

Child Nodes:

........

Aplasia of the phalanges of the 5th toe (HP:0100364)

................... HP:0100380 Aplasia of the distal phalanx of the 5th toe
................... HP:0100383 Aplasia of the middle phalanx of the 5th toe
................... HP:0100386 Aplasia of the proximal phalanx of the 5th toe

........

Short phalanx of the 5th toe (HP:0100368)

................... HP:0100391 Short distal phalanx of the 5th toe
................... HP:0100394 Short middle phalanx of the 5th toe
................... HP:0100397 Short proximal phalanx of the 5th toe

........

Aplasia/Hypoplasia of the distal phalanx of the 5th toe (HP:0100371)

................... HP:0100380 Aplasia of the distal phalanx of the 5th toe
................... HP:0100391 Short distal phalanx of the 5th toe

........

Aplasia/Hypoplasia of the middle phalanx of the 5th toe (HP:0100374)

................... HP:0100383 Aplasia of the middle phalanx of the 5th toe
................... HP:0100394 Short middle phalanx of the 5th toe

........

Aplasia/hypoplasia of the proximal phalanx of the 5th toe (HP:0100377)

................... HP:0100386 Aplasia of the proximal phalanx of the 5th toe
................... HP:0100397 Short proximal phalanx of the 5th toe

Sister Nodes:

Aplasia of the phalanges of the toes (HP:0010745)

Aplasia/hypoplasia of proximal toe phalanx (HP:0010203)

Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185)

Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194)

Aplasia/Hypoplasia of the phalanges of the 2nd toe (HP:0010347)

Aplasia/Hypoplasia of the phalanges of the 3rd toe (HP:0010359)

Aplasia/Hypoplasia of the phalanges of the 4th toe (HP:0010371)

Aplasia/Hypoplasia of the phalanges of the hallux (HP:0010058)

Hypoplasia of the phalanges of the toes (HP:0010746)

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:0010383	HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010383	HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0010383	HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0010383	HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0010383	HP:0100377	Aplasia/hypoplasia of the proximal phalanx of the 5th toe	1	CL E G H
HP:0010383	HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010383	HP:0100368	Short phalanx of the 5th toe	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010383	HP:0100364	Aplasia of the phalanges of the 5th toe	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0010383	HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0010383	HP:0100374	Aplasia/Hypoplasia of the middle phalanx of the 5th toe	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0010383	HP:0100368	Short phalanx of the 5th toe	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0010383	HP:0100397	Short proximal phalanx of the 5th toe	2	CL E G H
HP:0010383	HP:0100386	Aplasia of the proximal phalanx of the 5th toe	2	CL E G H
HP:0010383	HP:0100383	Aplasia of the middle phalanx of the 5th toe	2	CL E G H
HP:0010383	HP:0100391	Short distal phalanx of the 5th toe	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0010383	HP:0100380	Aplasia of the distal phalanx of the 5th toe	2	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0010383	HP:0100394	Short middle phalanx of the 5th toe	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22

Genes (4) :ARID1B KCNN3 MAP3K20 NOG

Diseases (4) :OMIM:135900 OMIM:618658 ORPHA:488232 OMIM:186500

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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