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:
Aplasia involving bones of the lower limbs (HP:0009817)

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

Parent Node:
Adactyly (HP:0009776)

Parent Node:
Aphalangy of the hands (HP:0005886)

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

..Starting node
..Aphalangy of hands and feet (HP:0200113)

Term ID:

200113

Name:

Aphalangy of hands and feet

Synonym:

Aphalangy, hands and feet

Definition:

Comments:

Reference:

HP:0200113

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the distal phalanges of the toes (HP:0010645)

Aplasia of the middle phalanges of the toes (HP:0100387)

Aplasia of the phalanges of the 2nd toe (HP:0010430)

Aplasia of the phalanges of the 3rd toe (HP:0100362)

Aplasia of the phalanges of the 4th toe (HP:0100363)

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

Aplasia of the phalanges of the hallux (HP:0010110)

Aplasia of the proximal phalanges of the toes (HP:0100388)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200113	HP:0200113	Aphalangy of hands and feet	0	CL E G H

Genes (0) :

Diseases (0) :

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