Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal pinna morphology (HP:0000377)help
Grandparent Node:
expand
Aplasia/Hypoplasia of the external ear (HP:0008772)help
Parent Node:
expand
Microtia (HP:0008551)help
..Starting node
..expand
Microtia, third degree (HP:0011267)help
Term ID: 11267
Name: Microtia, third degree
Synonym: Abnormal shape/structure of ear; Third-degree microtia
Definition: Presence of some auricular structures, but none of these structures conform to recognized ear components.
Comments:
Reference: HP:0011267
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandMicrotia, first degree (HP:0011266) help
..expandMicrotia, second degree (HP:0008569) 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:0011267HP:0011267Microtia, third degree0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0011267HP:0011267Microtia, third degree0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0011267HP:0011267Microtia, third degree0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0011267HP:0011267Microtia, third degree0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040283 - Occasional58
HP:0011267HP:0011267Microtia, third degree0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0011267HP:0011267Microtia, third degree0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0011267HP:0011267Microtia, third degree0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0011267HP:0011267Microtia, third degree0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0011267HP:0011267Microtia, third degree0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0011267HP:0011267Microtia, third degree0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome.7


Genes (10) :CDC45 CDC6 CDT1 FANCB GMNN ORC1 ORC4 ORC6 TCTN3 TWIST2

Diseases (4) :ORPHA:2554 ORPHA:3412 ORPHA:2753 OMIM:200110
 

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