Human Phenotype Ontology 
Grandparent Node:
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Abnormal earlobe morphology (HP:0000363)help
Parent Node:
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Aplasia/Hypoplasia of the earlobes (HP:0009906)help
..Starting node
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Absent earlobe (HP:0000387)help
Term ID: 387
Name: Absent earlobe
Synonym: Absent ear lobes; Absent earlobe; Earlobe, absent; Lobeless ears; Lobule aplasia
Definition: Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.
Comments:
Reference: HP:0000387
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandSmall earlobe (HP:0000385) 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:0000387HP:0000387Absent earlobe0ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040282 - Frequent168
HP:0000387HP:0000387Absent earlobe0ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040282 - Frequent1
HP:0000387HP:0000387Absent earlobe0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0000387HP:0000387Absent earlobe0CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040282 - Frequent20
HP:0000387HP:0000387Absent earlobe0CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040282 - Frequent161
HP:0000387HP:0000387Absent earlobe0CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040282 - Frequent146
HP:0000387HP:0000387Absent earlobe0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type.749
HP:0000387HP:0000387Absent earlobe0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000387HP:0000387Absent earlobe0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000387HP:0000387Absent earlobe0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040282 - Frequent92
HP:0000387HP:0000387Absent earlobe0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000387HP:0000387Absent earlobe0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000387HP:0000387Absent earlobe0KMT2B CL E G H975715840OMIM:61993411
HP:0000387HP:0000387Absent earlobe0NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040282 - Frequent
HP:0000387HP:0000387Absent earlobe0PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040282 - Frequent531
HP:0000387HP:0000387Absent earlobe0PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040282 - Frequent11
HP:0000387HP:0000387Absent earlobe0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0000387HP:0000387Absent earlobe0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0000387HP:0000387Absent earlobe0RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040282 - Frequent68
HP:0000387HP:0000387Absent earlobe0TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040282 - Frequent2
HP:0000387HP:0000387Absent earlobe0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68


Genes (19) :ATR ATRIP B4GALT7 CENPE CENPJ CEP152 COL3A1 CREBBP EP300 ESCO2 HMX1 KMT2B NUP85 PCNT PLK4 POLR3A RBBP8 TRAIP ZNF407

Diseases (12) :ORPHA:808 OMIM:130070 OMIM:130050 OMIM:618332 OMIM:618333 ORPHA:3103 OMIM:268300 OMIM:612109 OMIM:619934 OMIM:264090 ORPHA:3455 OMIM:619557
 

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