Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 nipple morphology (HP:0004404)

Parent Node:
Aplasia/Hypoplasia of the nipples (HP:0006709)

..Starting node
..Hypoplastic nipples (HP:0002557)

Term ID:

2557

Name:

Hypoplastic nipples

Synonym:

Nipple hypoplasia; Small nipples

Definition:

Underdevelopment of the nipple.

Comments:

Reference:

HP:0002557

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent nipple (HP:0002561)

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:0002557	HP:0002557	Hypoplastic nipples	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0002557	HP:0002557	Hypoplastic nipples	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0002557	HP:0002557	Hypoplastic nipples	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0002557	HP:0002557	Hypoplastic nipples	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0002557	HP:0002557	Hypoplastic nipples	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0002557	HP:0002557	Hypoplastic nipples	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002557	HP:0002557	Hypoplastic nipples	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0002557	HP:0002557	Hypoplastic nipples	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0002557	HP:0002557	Hypoplastic nipples	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0002557	HP:0002557	Hypoplastic nipples	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0002557	HP:0002557	Hypoplastic nipples	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0002557	HP:0002557	Hypoplastic nipples	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0002557	HP:0002557	Hypoplastic nipples	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0002557	HP:0002557	Hypoplastic nipples	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0002557	HP:0002557	Hypoplastic nipples	0	KRT10 CL E G H	3858	6413	OMIM:609165	Erythroderma, ichthyosiform, congenital reticular		45
HP:0002557	HP:0002557	Hypoplastic nipples	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002557	HP:0002557	Hypoplastic nipples	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0002557	HP:0002557	Hypoplastic nipples	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0002557	HP:0002557	Hypoplastic nipples	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0002557	HP:0002557	Hypoplastic nipples	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0002557	HP:0002557	Hypoplastic nipples	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0002557	HP:0002557	Hypoplastic nipples	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0002557	HP:0002557	Hypoplastic nipples	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.	1
HP:0002557	HP:0002557	Hypoplastic nipples	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0002557	HP:0002557	Hypoplastic nipples	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002557	HP:0002557	Hypoplastic nipples	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0002557	HP:0002557	Hypoplastic nipples	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0002557	HP:0002557	Hypoplastic nipples	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0002557	HP:0002557	Hypoplastic nipples	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0002557	HP:0002557	Hypoplastic nipples	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0002557	HP:0002557	Hypoplastic nipples	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040282 - Frequent	100
HP:0002557	HP:0002557	Hypoplastic nipples	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0002557	HP:0002557	Hypoplastic nipples	0	TP63 CL E G H	8626	15979	ORPHA:978	ADULT syndrome	HP:0040282 - Frequent	140
HP:0002557	HP:0002557	Hypoplastic nipples	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0002557	HP:0002557	Hypoplastic nipples	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040282 - Frequent	140
HP:0002557	HP:0002557	Hypoplastic nipples	0	TP63 CL E G H	8626	15979	OMIM:603543	Limb-Mammary syndrome	.	140
HP:0002557	HP:0002557	Hypoplastic nipples	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.	14
HP:0002557	HP:0002557	Hypoplastic nipples	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0002557	HP:0002557	Hypoplastic nipples	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040282 - Frequent	7
HP:0002557	HP:0002557	Hypoplastic nipples	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0002557	HP:0002557	Hypoplastic nipples	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0002557	HP:0002557	Hypoplastic nipples	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0002557	HP:0002557	Hypoplastic nipples	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.	13

Genes (35) :ALG9 ANTXR1 BRD4 CCDC47 CHRNG DLK1 EDA EDARADD FIG4 GNE HDAC8 IKBKG KDM6B KIF15 KRT10 MEG3 MEGF8 MGAT2 NIPBL PIGL PORCN PTPRF RAD21 RTL1 SETBP1 SLC25A24 SMC1A SMC3 TBX3 TP63 TUBB TWIST2 UBR1 USP9X WNT7A

Diseases (36) :ORPHA:79328 OMIM:230740 ORPHA:199 OMIM:618268 OMIM:265000 ORPHA:96334 OMIM:305100 OMIM:614941 OMIM:216340 OMIM:269921 OMIM:308300 OMIM:618505 ORPHA:261323 OMIM:609165 OMIM:614976 ORPHA:79329 OMIM:122470 OMIM:280000 OMIM:305600 OMIM:616001 OMIM:269150 OMIM:612289 OMIM:181450 ORPHA:3138 OMIM:103285 ORPHA:978 OMIM:604292 ORPHA:69085 OMIM:603543 OMIM:156610 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.

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