Human Phenotype Ontology 
Grandparent Node:
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Abnormal nipple morphology (HP:0004404)help
Parent Node:
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Aplasia/Hypoplasia of the nipples (HP:0006709)help
..Starting node
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Absent nipple (HP:0002561)help
Term ID: 2561
Name: Absent nipple
Synonym: Absent nipple; Absent nipples; Athelia
Definition: Congenital failure to develop, and absence of, the nipple.
Comments:
Reference: HP:0002561
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypoplastic nipples (HP:0002557) 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:0002561HP:0002561Absent nipple0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040284 - Very rare2
HP:0002561HP:0002561Absent nipple0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0002561HP:0002561Absent nipple0EDARADD CL E G H12817814341OMIM:614940Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantHP:0040283 - Occasional56
HP:0002561HP:0002561Absent nipple0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessiveHP:0040283 - Occasional56
HP:0002561HP:0002561Absent nipple0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0002561HP:0002561Absent nipple0PTPRF CL E G H57929670OMIM:616001Breasts and/or nipples, aplasia or hypoplasia of, 2.1
HP:0002561HP:0002561Absent nipple0RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2
HP:0002561HP:0002561Absent nipple0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0002561HP:0002561Absent nipple0TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0002561HP:0002561Absent nipple0TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040282 - Frequent140
HP:0002561HP:0002561Absent nipple0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040282 - Frequent140
HP:0002561HP:0002561Absent nipple0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7


Genes (9) :CDH11 EDA EDARADD FIG4 PTPRF RSPO2 SLC25A24 TP63 TWIST2

Diseases (12) :ORPHA:1299 OMIM:305100 OMIM:614940 OMIM:614941 OMIM:216340 OMIM:616001 OMIM:618021 OMIM:612289 OMIM:103285 ORPHA:978 ORPHA:69085 OMIM:209885
 

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