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
..Low-set nipples (HP:0002562)

Term ID:

2562

Name:

Low-set nipples

Synonym:

Low-set nipples

Definition:

Placement of the nipples at a lower than normal location.

Comments:

Reference:

HP:0002562

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)

Prominent nipples (HP:0004405)

Supernumerary nipple (HP:0002558)

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:0002562	HP:0002562	Low-set nipples	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002562	HP:0002562	Low-set nipples	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002562	HP:0002562	Low-set nipples	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002562	HP:0002562	Low-set nipples	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002562	HP:0002562	Low-set nipples	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002562	HP:0002562	Low-set nipples	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002562	HP:0002562	Low-set nipples	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0002562	HP:0002562	Low-set nipples	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002562	HP:0002562	Low-set nipples	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0002562	HP:0002562	Low-set nipples	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002562	HP:0002562	Low-set nipples	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional

Genes (11) :CARS1 ERCC2 ERCC3 GTF2E2 GTF2H5 H3-3A KAT6A MPLKIP PIGL RNF113A TARS1

Diseases (4) :ORPHA:33364 OMIM:619720 OMIM:616268 OMIM:280000

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