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:
Abnormality of the uterus (HP:0000130)

Parent Node:
Aplasia/hypoplasia of the uterus (HP:0008684)

..Starting node
..Aplasia of the uterus (HP:0000151)

Term ID:

151

Name:

Aplasia of the uterus

Synonym:

Absent uterus; uterus absent

Definition:

Aplasia of the uterus.

Comments:

Reference:

HP:0000151

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the uterus (HP:0000013)

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:0000151	HP:0000151	Aplasia of the uterus	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0000151	HP:0000151	Aplasia of the uterus	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0000151	HP:0000151	Aplasia of the uterus	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000151	HP:0000151	Aplasia of the uterus	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0000151	HP:0000151	Aplasia of the uterus	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0000151	HP:0000151	Aplasia of the uterus	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0000151	HP:0000151	Aplasia of the uterus	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0000151	HP:0000151	Aplasia of the uterus	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040283 - Occasional	53
HP:0000151	HP:0000151	Aplasia of the uterus	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11		2
HP:0000151	HP:0000151	Aplasia of the uterus	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000151	HP:0000151	Aplasia of the uterus	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0000151	HP:0000151	Aplasia of the uterus	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia		83
HP:0000151	HP:0000151	Aplasia of the uterus	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040284 - Very rare	83
HP:0000151	HP:0000151	Aplasia of the uterus	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0000151	HP:0000151	Aplasia of the uterus	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0000151	HP:0000151	Aplasia of the uterus	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0000151	HP:0000151	Aplasia of the uterus	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0000151	HP:0000151	Aplasia of the uterus	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0000151	HP:0000151	Aplasia of the uterus	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0000151	HP:0000151	Aplasia of the uterus	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0000151	HP:0000151	Aplasia of the uterus	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0000151	HP:0000151	Aplasia of the uterus	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare	140
HP:0000151	HP:0000151	Aplasia of the uterus	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0000151	HP:0000151	Aplasia of the uterus	0	WNT4 CL E G H	54361	12783	ORPHA:3109	Mayer-Rokitansky-Küster-Hauser syndrome	HP:0040281 - Very frequent	4
HP:0000151	HP:0000151	Aplasia of the uterus	0	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0000151	HP:0000151	Aplasia of the uterus	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040282 - Frequent	13
HP:0000151	HP:0000151	Aplasia of the uterus	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	HP:0040283 - Occasional	13

Genes (21) :AR ARID1B CPLX1 CTBP1 CYP11A1 CYP17A1 DHX37 FANCL FGFRL1 GATA3 LETM1 MINPP1 MYRF NSD2 PPP2R1A RBM8A TOE1 TP63 TXNDC15 WNT4 WNT7A

Diseases (22) :ORPHA:99429 ORPHA:90797 OMIM:135900 OMIM:194190 ORPHA:168558 ORPHA:289548 ORPHA:90793 OMIM:273250 OMIM:614083 OMIM:146255 ORPHA:2237 ORPHA:284339 OMIM:618280 ORPHA:457284 ORPHA:3320 OMIM:274000 ORPHA:69085 OMIM:619879 ORPHA:3109 OMIM:158330 ORPHA:2879 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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