Human Phenotype Ontology 
Grandparent Node:
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Abnormality of tibia morphology (HP:0002992)help
Grandparent Node:
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Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)help
Parent Node:
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Aplasia involving bones of the lower limbs (HP:0009817)help
Parent Node:
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Aplasia/Hypoplasia of the tibia (HP:0005772)help
..Starting node
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Absent tibia (HP:0009556)help
Term ID: 9556
Name: Absent tibia
Synonym: Absent shankbone; Absent shinbone; Aplasia of the tibia
Definition: Absence of the tibia.
Comments:
Reference: HP:0009556
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandRudimentary to absent tibiae (HP:0006426) help
..expandShort tibia (HP:0005736) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009556HP:0009556Absent tibia0LMBR1 CL E G H643272378ORPHA11124013243605522
HP:0009556HP:0009556Absent tibia0LMBR1 CL E G H64327135750Mirror image polydactyly135750C1851100OMIM11124013243605522
HP:0009556HP:0009556Absent tibia0LMBR1 CL E G H64327188740Tibia, hypoplasia or aplasia of, with polydactyly188740C1861099OMIM11124013243605522
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009556HP:0009556Absent tibia0ATP7A CL E G H538198ORPHA0357607869300011
HP:0009556HP:0009556Absent tibia0DYNC2H1 CL E G H79659613091Short-rib thoracic dysplasia 3 with or without polydactyly613091C2751311OMIM02078892962603297


Genes (3) :ATP7A DYNC2H1 LMBR1

Diseases (5) :198 613091 2378 135750 188740
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.