Term ID:
9896
Name:
Abnormal antitragus morphology
Synonym:
Definition:
An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.
Comments:
Reference:
HP:0009896
Genes and Diseases: Child Nodes: ........Prominent antitragus (HP:0008593) ........Everted antitragus (HP:0011248) ........Absent antitragus (HP:0011249) ........Bifid antitragus (HP:0011250) ........Underdeveloped antitragus (HP:0011251) Sister Nodes: ..Abnormal antihelix morphology (HP:0009738) ..Abnormal earlobe morphology (HP:0000363) ..Abnormal helix morphology (HP:0011039) ..Abnormal number of tubercles (HP:0040112) ..Abnormal tragus morphology (HP:0009912) ..Asymmetry of the ears (HP:0010722) ..Auricular pit (HP:0030025) ..Auricular tag (HP:0030021) ..Calcification of the auricular cartilage (HP:0005103) ..Chondritis of pinna (HP:0200047) ..Crumpled ear (HP:0009901) ..Cryptotia (HP:0011252) ..Cupped ear (HP:0000378) ..Cystic lesions of the pinnae (HP:0010723) ..Hypoplasia of the ear cartilage (HP:0100720) ..Long ear (HP:0400004) ..Lop ear (HP:0000394) ..Macrotia (HP:0000400) ..Microtia (HP:0008551) ..Mozart ear (HP:0030677) ..Protruding ear (HP:0000411) ..Quelprud nodule (HP:0030023) ..Question mark ear (HP:0030022) ..Round ear (HP:0100830) ..Satyr ear (HP:0030676) ..Short ear (HP:0400005) ..Thickened ears (HP:0009894) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0009896 HP:0009896 Abnormal antitragus morphology 0 B3GAT3 CL E G H 26229 923 OMIM:245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 5 HP:0009896 HP:0009896 Abnormal antitragus morphology 0 CHST3 CL E G H 9469 1971 OMIM:245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 165 HP:0009896 HP:0009896 Abnormal antitragus morphology 0 COL2A1 CL E G H 1280 2200 ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0040283 - Occasional 284 HP:0009896 HP:0009896 Abnormal antitragus morphology 0 FN1 CL E G H 2335 3778 ORPHA:93315 Spondylometaphyseal dysplasia, 'corner fracture' type HP:0040283 - Occasional 9 HP:0009896 HP:0009896 Abnormal antitragus morphology 0 KAT6A CL E G H 7994 13013 OMIM:616268 Arboleda-Tham syndrome 34 HP:0009896 HP:0009896 Abnormal antitragus morphology 0 KCTD1 CL E G H 284252 18249 OMIM:181270 Scalp-Ear-Nipple syndrome 11 HP:0009896 HP:0009896 Abnormal antitragus morphology 0 KCTD1 CL E G H 284252 18249 ORPHA:2036 Scalp-ear-nipple syndrome 11 HP:0009896 HP:0009896 Abnormal antitragus morphology 0 PIGK CL E G H 10026 8965 OMIM:618879 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS HP:0009896 HP:0009896 Abnormal antitragus morphology 0 PNPLA6 CL E G H 10908 16268 ORPHA:2377 Laurence-Moon syndrome HP:0040281 - Very frequent 103 HP:0009896 HP:0009896 Abnormal antitragus morphology 0 RAB3GAP2 CL E G H 25782 17168 OMIM:212720 Martsolf syndrome 1 135 HP:0009896 HP:0011250 Bifid antitragus 1 CL E G H HP:0009896 HP:0011249 Absent antitragus 1 CL E G H HP:0009896 HP:0011248 Everted antitragus 1 CL E G H HP:0009896 HP:0008593 Prominent antitragus 1 B3GAT3 CL E G H 26229 923 OMIM:245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects HP:0040283 - Occasional 5 HP:0009896 HP:0008593 Prominent antitragus 1 CHST3 CL E G H 9469 1971 OMIM:245600 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects HP:0040283 - Occasional 165 HP:0009896 HP:0008593 Prominent antitragus 1 KAT6A CL E G H 7994 13013 OMIM:616268 Arboleda-Tham syndrome 34 HP:0009896 HP:0011251 Underdeveloped antitragus 1 KCTD1 CL E G H 284252 18249 ORPHA:2036 Scalp-ear-nipple syndrome HP:0040281 - Very frequent 11 HP:0009896 HP:0011251 Underdeveloped antitragus 1 KCTD1 CL E G H 284252 18249 OMIM:181270 Scalp-Ear-Nipple syndrome . 11 HP:0009896 HP:0008593 Prominent antitragus 1 PIGK CL E G H 10026 8965 OMIM:618879 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS HP:0009896 HP:0008593 Prominent antitragus 1 RAB3GAP2 CL E G H 25782 17168 OMIM:212720 Martsolf syndrome 1 . 135
Genes (9) :B3GAT3 CHST3 COL2A1 FN1 KAT6A KCTD1 PIGK PNPLA6 RAB3GAP2 Diseases (8) :OMIM:245600 ORPHA:93315 OMIM:616268 OMIM:181270 ORPHA:2036 OMIM:618879 ORPHA:2377 OMIM:212720
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.