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 localization of kidney (HP:0100542)

Parent Node:
Ectopic kidney (HP:0000086)

..Starting node
..Pelvic kidney (HP:0000125)

Term ID:

125

Name:

Pelvic kidney

Synonym:

Sacral kidney

Definition:

A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.

Comments:

Reference:

HP:0000125

Genes and Diseases:

Child Nodes:

Sister Nodes:

Crossed fused renal ectopia (HP:0004736)

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:0000125	HP:0000125	Pelvic kidney	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0000125	HP:0000125	Pelvic kidney	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000125	HP:0000125	Pelvic kidney	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0000125	HP:0000125	Pelvic kidney	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0000125	HP:0000125	Pelvic kidney	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.	172
HP:0000125	HP:0000125	Pelvic kidney	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0000125	HP:0000125	Pelvic kidney	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0000125	HP:0000125	Pelvic kidney	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0000125	HP:0000125	Pelvic kidney	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000125	HP:0000125	Pelvic kidney	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000125	HP:0000125	Pelvic kidney	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000125	HP:0000125	Pelvic kidney	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000125	HP:0000125	Pelvic kidney	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000125	HP:0000125	Pelvic kidney	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0000125	HP:0000125	Pelvic kidney	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.	1
HP:0000125	HP:0000125	Pelvic kidney	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0000125	HP:0000125	Pelvic kidney	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000125	HP:0000125	Pelvic kidney	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0000125	HP:0000125	Pelvic kidney	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000125	HP:0000125	Pelvic kidney	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional	274
HP:0000125	HP:0000125	Pelvic kidney	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0000125	HP:0000125	Pelvic kidney	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000125	HP:0000125	Pelvic kidney	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0000125	HP:0000125	Pelvic kidney	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0000125	HP:0000125	Pelvic kidney	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0000125	HP:0000125	Pelvic kidney	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC

Genes (34) :BAZ1B BCL7B BUD23 CCNQ CLIP2 DDX6 DNAJC30 DYRK1A EIF4H ELN FANCD2 FANCF FGFR1 FKBP6 GNB2 GTF2I GTF2IRD1 GTF2IRD2 LIMK1 METTL27 MLXIPL NCF1 PUF60 RFC2 RTTN SLX4 STRA6 STX1A TBL2 TMEM270 VPS37D WAC ZEB2 ZMYM2

Diseases (18) :ORPHA:904 OMIM:300707 OMIM:618653 ORPHA:464311 OMIM:194050 OMIM:227646 OMIM:603467 OMIM:613001 OMIM:619503 ORPHA:508488 ORPHA:508498 ORPHA:468631 OMIM:613951 OMIM:601186 ORPHA:466950 ORPHA:261552 ORPHA:261537 OMIM:619522

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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