Human Phenotype Ontology 
Grandparent Node:
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Abnormal placental membrane morphology (HP:0011409)help
Parent Node:
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Amniotic constriction ring (HP:0009775)help
..Starting node
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Digital constriction ring (HP:0010491)help
Term ID: 10491
Name: Digital constriction ring
Synonym: Amniotic constriction rings of digits
Definition: A narrow segment of significantly reduced circumference of a digit.
Comments:
Reference: HP:0010491
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAmniotic constriction rings of arms (HP:0010483) help
..expandAmniotic constriction rings of legs (HP:0010495) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010491HP:0010491Digital constriction ring0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0010491HP:0010491Digital constriction ring0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis


Genes (2) :GJA1 LORICRIN

Diseases (2) :ORPHA:1010 ORPHA:79395
 

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