Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal breast morphology (HP:0031093)

Parent Node:
Abnormal nipple morphology (HP:0004404)

..Starting node
..Supernumerary nipple (HP:0002558)

Term ID:

2558

Name:

Supernumerary nipple

Synonym:

accessory mamilla; accessory mamillas; Accessory nipple; Accessory nipples; Increased nipple number; Supernumerary nipples

Definition:

Presence of more than two nipples.

Comments:

Reference:

HP:0002558

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal intermamillary distance (HP:0040157)

Aplasia/Hypoplasia of the nipples (HP:0006709)

Dry nipple (HP:0031509)

Inverted nipples (HP:0003186)

Low-set nipples (HP:0002562)

Prominent nipples (HP:0004405)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002558	HP:0002558	Supernumerary nipple	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040281 - Very frequent	72
HP:0002558	HP:0002558	Supernumerary nipple	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0002558	HP:0002558	Supernumerary nipple	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0002558	HP:0002558	Supernumerary nipple	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0002558	HP:0002558	Supernumerary nipple	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002558	HP:0002558	Supernumerary nipple	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0002558	HP:0002558	Supernumerary nipple	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040283 - Occasional	7
HP:0002558	HP:0002558	Supernumerary nipple	0	COLEC10 CL E G H	10584	2220	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	3
HP:0002558	HP:0002558	Supernumerary nipple	0	COLEC11 CL E G H	78989	17213	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	9
HP:0002558	HP:0002558	Supernumerary nipple	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002558	HP:0002558	Supernumerary nipple	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002558	HP:0002558	Supernumerary nipple	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0002558	HP:0002558	Supernumerary nipple	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0002558	HP:0002558	Supernumerary nipple	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0002558	HP:0002558	Supernumerary nipple	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent	73
HP:0002558	HP:0002558	Supernumerary nipple	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0002558	HP:0002558	Supernumerary nipple	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0002558	HP:0002558	Supernumerary nipple	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002558	HP:0002558	Supernumerary nipple	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0002558	HP:0002558	Supernumerary nipple	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0002558	HP:0002558	Supernumerary nipple	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0002558	HP:0002558	Supernumerary nipple	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0002558	HP:0002558	Supernumerary nipple	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0002558	HP:0002558	Supernumerary nipple	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0002558	HP:0002558	Supernumerary nipple	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0002558	HP:0002558	Supernumerary nipple	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features	HP:0040283 - Occasional	3
HP:0002558	HP:0002558	Supernumerary nipple	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002558	HP:0002558	Supernumerary nipple	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0002558	HP:0002558	Supernumerary nipple	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002558	HP:0002558	Supernumerary nipple	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0002558	HP:0002558	Supernumerary nipple	0	MASP1 CL E G H	5648	6901	ORPHA:293843	3MC syndrome	HP:0040282 - Frequent	21
HP:0002558	HP:0002558	Supernumerary nipple	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0002558	HP:0002558	Supernumerary nipple	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	HP:0040283 - Occasional	4
HP:0002558	HP:0002558	Supernumerary nipple	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0002558	HP:0002558	Supernumerary nipple	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0002558	HP:0002558	Supernumerary nipple	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0002558	HP:0002558	Supernumerary nipple	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0002558	HP:0002558	Supernumerary nipple	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0002558	HP:0002558	Supernumerary nipple	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0002558	HP:0002558	Supernumerary nipple	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0002558	HP:0002558	Supernumerary nipple	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0002558	HP:0002558	Supernumerary nipple	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0002558	HP:0002558	Supernumerary nipple	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional	103
HP:0002558	HP:0002558	Supernumerary nipple	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0002558	HP:0002558	Supernumerary nipple	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0002558	HP:0002558	Supernumerary nipple	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040283 - Occasional	10
HP:0002558	HP:0002558	Supernumerary nipple	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0002558	HP:0002558	Supernumerary nipple	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0002558	HP:0002558	Supernumerary nipple	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040283 - Occasional	241
HP:0002558	HP:0002558	Supernumerary nipple	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0002558	HP:0002558	Supernumerary nipple	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional	104
HP:0002558	HP:0002558	Supernumerary nipple	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0002558	HP:0002558	Supernumerary nipple	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0002558	HP:0002558	Supernumerary nipple	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0002558	HP:0002558	Supernumerary nipple	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0002558	HP:0002558	Supernumerary nipple	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0002558	HP:0002558	Supernumerary nipple	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0002558	HP:0002558	Supernumerary nipple	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0002558	HP:0002558	Supernumerary nipple	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0002558	HP:0002558	Supernumerary nipple	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24

Genes (51) :ACTB ARHGAP31 ASXL1 ASXL3 CDH2 CHAMP1 CKAP2L COLEC10 COLEC11 CSPP1 DDX6 DHODH GDF11 GPC3 GPC4 H4C9 HDAC4 HNRNPK HS2ST1 IKBKG KDM1A KDM5B KIAA0586 KRAS MASP1 MDH2 MEGF8 NONO PGAP2 PGAP3 PIGL PIGO PIGV PIGW PIGY PNPLA6 PORCN PPP2R5D RNF216 STAG1 TCF4 TFAP2A TFAP2B TMCO1 TNRC6B TP63 TRRAP UBA2 WDR19 ZEB2 ZMYND11

Diseases (48) :ORPHA:64755 OMIM:100300 OMIM:605039 OMIM:615485 OMIM:618929 OMIM:616579 ORPHA:3255 ORPHA:293843 ORPHA:397715 OMIM:618653 OMIM:263750 ORPHA:246 OMIM:619122 ORPHA:373 OMIM:312870 OMIM:619951 ORPHA:1001 ORPHA:352665 ORPHA:453504 OMIM:619194 ORPHA:464 OMIM:308300 OMIM:616728 ORPHA:477993 OMIM:618109 OMIM:600268 OMIM:257920 OMIM:617339 OMIM:614976 ORPHA:466791 ORPHA:247262 ORPHA:1173 OMIM:305600 ORPHA:457279 OMIM:617635 OMIM:610954 ORPHA:2896 OMIM:113620 ORPHA:46627 OMIM:213980 OMIM:619243 OMIM:106260 OMIM:129400 OMIM:618454 OMIM:619959 OMIM:614376 OMIM:235730 OMIM:616083

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

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