Human Phenotype Ontology 
Grandparent Node:
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Abnormal pinna morphology (HP:0000377)help
Grandparent Node:
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Aplasia/Hypoplasia of the external ear (HP:0008772)help
Parent Node:
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Microtia (HP:0008551)help
..Starting node
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Microtia, second degree (HP:0008569)help
Term ID: 8569
Name: Microtia, second degree
Synonym: Cockleshell ear; Constricted helix type IV; Ear, grade II dysplasia; Mini ear; Severe cupped ear, type III; Shell ear; Snail ear
Definition: Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.
Comments:
Reference: HP:0008569
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMicrotia, first degree (HP:0011266) help
..expandMicrotia, third degree (HP:0011267) 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:0008569HP:0008569Microtia, second degree0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0008569HP:0008569Microtia, second degree0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36


Genes (1) :B3GLCT

Diseases (2) :ORPHA:709 OMIM:261540
 

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