Human Phenotype Ontology 
Grandparent Node:
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Abnormal breast morphology (HP:0031093)help
Parent Node:
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Abnormal nipple morphology (HP:0004404)help
..Starting node
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Aplasia/Hypoplasia of the nipples (HP:0006709)help
Term ID: 6709
Name: Aplasia/Hypoplasia of the nipples
Synonym: Absent/rudimentary nipples; Absent/small nipples; Absent/underdeveloped nipples; Nipples absent or rudimentary
Definition:
Comments:
Reference: HP:0006709
Genes and Diseases:
 
       Child Nodes:
........expandHypoplastic nipples (HP:0002557) help
........expandAbsent nipple (HP:0002561) help

 Sister Nodes: 
..expandAbnormal intermamillary distance (HP:0040157) help
..expandDry nipple (HP:0031509) help
..expandInverted nipples (HP:0003186) help
..expandLow-set nipples (HP:0002562) help
..expandProminent nipples (HP:0004405) help
..expandSupernumerary nipple (HP:0002558) 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:0006709HP:0006709Aplasia/Hypoplasia of the nipples0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome8
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndrome2
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional1
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked115
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0EDARADD CL E G H12817814341OMIM:614940Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant56
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive56
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040283 - Occasional27
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome.11
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040281 - Very frequent11
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDG39
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional118
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional7
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040281 - Very frequent36
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0PTPRF CL E G H57929670OMIM:616001Breasts and/or nipples, aplasia or hypoplasia of, 21
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TP63 CL E G H862615979OMIM:103285Adult syndrome140
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TP63 CL E G H862615979ORPHA:978ADULT syndrome140
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome140
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 114
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040282 - Frequent7
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome.7
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndrome7
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability27
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12
HP:0006709HP:0006709Aplasia/Hypoplasia of the nipples0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0006709HP:0002557Hypoplastic nipples1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0006709HP:0002557Hypoplastic nipples1ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0006709HP:0002557Hypoplastic nipples1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0006709HP:0002557Hypoplastic nipples1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0006709HP:0002561Absent nipple1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040284 - Very rare2
HP:0006709HP:0002557Hypoplastic nipples1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0006709HP:0002557Hypoplastic nipples1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0006709HP:0002557Hypoplastic nipples1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0006709HP:0002561Absent nipple1EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0006709HP:0002561Absent nipple1EDARADD CL E G H12817814341OMIM:614940Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominantHP:0040283 - Occasional56
HP:0006709HP:0002561Absent nipple1EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessiveHP:0040283 - Occasional56
HP:0006709HP:0002557Hypoplastic nipples1EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0006709HP:0002561Absent nipple1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0006709HP:0002557Hypoplastic nipples1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0006709HP:0002557Hypoplastic nipples1GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0006709HP:0002557Hypoplastic nipples1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0006709HP:0002557Hypoplastic nipples1IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0006709HP:0002557Hypoplastic nipples1KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0006709HP:0002557Hypoplastic nipples1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0006709HP:0002557Hypoplastic nipples1KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0006709HP:0002557Hypoplastic nipples1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0006709HP:0002557Hypoplastic nipples1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0006709HP:0002557Hypoplastic nipples1MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0006709HP:0002557Hypoplastic nipples1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0006709HP:0002557Hypoplastic nipples1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0006709HP:0002557Hypoplastic nipples1PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0006709HP:0002557Hypoplastic nipples1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0006709HP:0002557Hypoplastic nipples1PTPRF CL E G H57929670OMIM:616001Breasts and/or nipples, aplasia or hypoplasia of, 2.1
HP:0006709HP:0002561Absent nipple1PTPRF CL E G H57929670OMIM:616001Breasts and/or nipples, aplasia or hypoplasia of, 2.1
HP:0006709HP:0002557Hypoplastic nipples1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0006709HP:0002561Absent nipple1RSPO2 CL E G H34041928583OMIM:618021Tetraamelia syndrome 2
HP:0006709HP:0002557Hypoplastic nipples1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0006709HP:0002557Hypoplastic nipples1SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0006709HP:0002561Absent nipple1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0006709HP:0002557Hypoplastic nipples1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0006709HP:0002557Hypoplastic nipples1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0006709HP:0002557Hypoplastic nipples1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0006709HP:0002557Hypoplastic nipples1TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040282 - Frequent100
HP:0006709HP:0002557Hypoplastic nipples1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0006709HP:0002557Hypoplastic nipples1TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0006709HP:0002561Absent nipple1TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040282 - Frequent140
HP:0006709HP:0002557Hypoplastic nipples1TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040282 - Frequent140
HP:0006709HP:0002561Absent nipple1TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0006709HP:0002557Hypoplastic nipples1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0006709HP:0002557Hypoplastic nipples1TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome.140
HP:0006709HP:0002561Absent nipple1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040282 - Frequent140
HP:0006709HP:0002557Hypoplastic nipples1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040282 - Frequent140
HP:0006709HP:0002557Hypoplastic nipples1TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1.14
HP:0006709HP:0002557Hypoplastic nipples1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0006709HP:0002561Absent nipple1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0006709HP:0002557Hypoplastic nipples1TWIST2 CL E G H11758120670ORPHA:1231Barber-Say syndromeHP:0040282 - Frequent7
HP:0006709HP:0002557Hypoplastic nipples1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0006709HP:0002557Hypoplastic nipples1UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0006709HP:0002557Hypoplastic nipples1USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0006709HP:0002557Hypoplastic nipples1WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13


Genes (50) :ALG9 ANTXR1 BRD4 CCDC22 CCDC47 CDH11 CHRNG CPLX1 CTBP1 DLK1 EDA EDARADD EFNB1 FIG4 GNE HDAC8 IKBKG KCTD1 KDM6B KIF15 KRT10 LETM1 MEG3 MEGF8 MGAT2 NELFA NIPBL NSD2 PIGG PIGL PIGN PORCN PTPRF RAD21 RSPO2 RTL1 SETBP1 SLC25A24 SMC1A SMC3 TBX3 TP63 TUBB TWIST2 UBR1 USP9X VAC14 WASHC5 WNT3 WNT7A

Diseases (50) :ORPHA:79328 OMIM:230740 ORPHA:199 ORPHA:7 OMIM:618268 ORPHA:1299 OMIM:265000 ORPHA:280 ORPHA:96334 OMIM:305100 OMIM:614940 OMIM:614941 ORPHA:1520 ORPHA:3472 OMIM:216340 OMIM:269921 OMIM:308300 OMIM:181270 ORPHA:2036 OMIM:618505 ORPHA:261323 OMIM:609165 OMIM:614976 ORPHA:79329 OMIM:122470 ORPHA:3474 OMIM:280000 ORPHA:2059 OMIM:305600 OMIM:616001 OMIM:618021 ORPHA:3301 OMIM:269150 OMIM:612289 ORPHA:3138 OMIM:181450 OMIM:103285 ORPHA:978 OMIM:604292 ORPHA:1896 OMIM:603543 ORPHA:69085 OMIM:156610 ORPHA:920 OMIM:200110 ORPHA:1231 OMIM:209885 OMIM:243800 ORPHA:480880 OMIM:276820
 

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