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:
Renal hypoplasia/aplasia (HP:0008678)

Parent Node:
Renal agenesis (HP:0000104)

..Starting node
..Unilateral renal agenesis (HP:0000122)

Term ID:

122

Name:

Unilateral renal agenesis

Synonym:

Absent kidney on one side; Missing one kidney; Single kidney; Unilateral kidney agenesis

Definition:

A unilateral form of agenesis of the kidney.

Comments:

Reference:

HP:0000122

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral renal agenesis (HP:0010958)

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:0000122	HP:0000122	Unilateral renal agenesis	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0000122	HP:0000122	Unilateral renal agenesis	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	HP:0040283 - Occasional	89
HP:0000122	HP:0000122	Unilateral renal agenesis	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0000122	HP:0000122	Unilateral renal agenesis	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	3
HP:0000122	HP:0000122	Unilateral renal agenesis	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000122	HP:0000122	Unilateral renal agenesis	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0000122	HP:0000122	Unilateral renal agenesis	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	512
HP:0000122	HP:0000122	Unilateral renal agenesis	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000122	HP:0000122	Unilateral renal agenesis	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0000122	HP:0000122	Unilateral renal agenesis	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0000122	HP:0000122	Unilateral renal agenesis	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000122	HP:0000122	Unilateral renal agenesis	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	181
HP:0000122	HP:0000122	Unilateral renal agenesis	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	6
HP:0000122	HP:0000122	Unilateral renal agenesis	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	161
HP:0000122	HP:0000122	Unilateral renal agenesis	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	38
HP:0000122	HP:0000122	Unilateral renal agenesis	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	146
HP:0000122	HP:0000122	Unilateral renal agenesis	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	31
HP:0000122	HP:0000122	Unilateral renal agenesis	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	15
HP:0000122	HP:0000122	Unilateral renal agenesis	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0000122	HP:0000122	Unilateral renal agenesis	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000122	HP:0000122	Unilateral renal agenesis	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0000122	HP:0000122	Unilateral renal agenesis	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.	159
HP:0000122	HP:0000122	Unilateral renal agenesis	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0000122	HP:0000122	Unilateral renal agenesis	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:0000122	HP:0000122	Unilateral renal agenesis	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0000122	HP:0000122	Unilateral renal agenesis	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0000122	HP:0000122	Unilateral renal agenesis	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0000122	HP:0000122	Unilateral renal agenesis	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000122	HP:0000122	Unilateral renal agenesis	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0000122	HP:0000122	Unilateral renal agenesis	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0000122	HP:0000122	Unilateral renal agenesis	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000122	HP:0000122	Unilateral renal agenesis	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0000122	HP:0000122	Unilateral renal agenesis	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0000122	HP:0000122	Unilateral renal agenesis	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000122	HP:0000122	Unilateral renal agenesis	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000122	HP:0000122	Unilateral renal agenesis	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000122	HP:0000122	Unilateral renal agenesis	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome		90
HP:0000122	HP:0000122	Unilateral renal agenesis	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000122	HP:0000122	Unilateral renal agenesis	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0000122	HP:0000122	Unilateral renal agenesis	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	9
HP:0000122	HP:0000122	Unilateral renal agenesis	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	112
HP:0000122	HP:0000122	Unilateral renal agenesis	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0000122	HP:0000122	Unilateral renal agenesis	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2		5
HP:0000122	HP:0000122	Unilateral renal agenesis	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040283 - Occasional	46
HP:0000122	HP:0000122	Unilateral renal agenesis	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0000122	HP:0000122	Unilateral renal agenesis	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000122	HP:0000122	Unilateral renal agenesis	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	155
HP:0000122	HP:0000122	Unilateral renal agenesis	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000122	HP:0000122	Unilateral renal agenesis	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	5
HP:0000122	HP:0000122	Unilateral renal agenesis	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0000122	HP:0000122	Unilateral renal agenesis	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0000122	HP:0000122	Unilateral renal agenesis	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0000122	HP:0000122	Unilateral renal agenesis	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay		3
HP:0000122	HP:0000122	Unilateral renal agenesis	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	16
HP:0000122	HP:0000122	Unilateral renal agenesis	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0000122	HP:0000122	Unilateral renal agenesis	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0000122	HP:0000122	Unilateral renal agenesis	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000122	HP:0000122	Unilateral renal agenesis	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0000122	HP:0000122	Unilateral renal agenesis	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0000122	HP:0000122	Unilateral renal agenesis	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare
HP:0000122	HP:0000122	Unilateral renal agenesis	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0000122	HP:0000122	Unilateral renal agenesis	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.	34
HP:0000122	HP:0000122	Unilateral renal agenesis	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0000122	HP:0000122	Unilateral renal agenesis	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000122	HP:0000122	Unilateral renal agenesis	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	11
HP:0000122	HP:0000122	Unilateral renal agenesis	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0000122	HP:0000122	Unilateral renal agenesis	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	4
HP:0000122	HP:0000122	Unilateral renal agenesis	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000122	HP:0000122	Unilateral renal agenesis	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040283 - Occasional	49
HP:0000122	HP:0000122	Unilateral renal agenesis	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000122	HP:0000122	Unilateral renal agenesis	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000122	HP:0000122	Unilateral renal agenesis	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000122	HP:0000122	Unilateral renal agenesis	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	99
HP:0000122	HP:0000122	Unilateral renal agenesis	0	STS CL E G H	412	11425	ORPHA:281090	Syndromic recessive X-linked ichthyosis	HP:0040283 - Occasional	19
HP:0000122	HP:0000122	Unilateral renal agenesis	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	2
HP:0000122	HP:0000122	Unilateral renal agenesis	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0000122	HP:0000122	Unilateral renal agenesis	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0000122	HP:0000122	Unilateral renal agenesis	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0000122	HP:0000122	Unilateral renal agenesis	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000122	HP:0000122	Unilateral renal agenesis	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0000122	HP:0000122	Unilateral renal agenesis	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0000122	HP:0000122	Unilateral renal agenesis	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0000122	HP:0000122	Unilateral renal agenesis	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0000122	HP:0000122	Unilateral renal agenesis	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000122	HP:0000122	Unilateral renal agenesis	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000122	HP:0000122	Unilateral renal agenesis	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	224
HP:0000122	HP:0000122	Unilateral renal agenesis	0	WNT4 CL E G H	54361	12783	ORPHA:3109	Mayer-Rokitansky-Küster-Hauser syndrome	HP:0040283 - Occasional	4
HP:0000122	HP:0000122	Unilateral renal agenesis	0	WNT4 CL E G H	54361	12783	OMIM:158330	Mullerian aplasia and hyperandrogenism	HP:0040283 - Occasional	4
HP:0000122	HP:0000122	Unilateral renal agenesis	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction		9

Genes (81) :ALDH18A1 ALKBH8 ANKLE2 ANKRD17 ANOS1 ASPM ASXL2 ATN1 CDC42 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63 CIT COG6 COPB2 CTU2 DHCR7 DYRK1A ELN ERCC6 ERCC8 EYA1 FANCL FBLN5 FREM1 GATA3 GDF6 GLI3 GNB2 H4C9 HNF1B HS2ST1 IDH1 KIF14 KNL1 KNSTRN KYNU LMBRD1 MBTPS2 MCM7 MCPH1 METTL5 MFSD2A NADSYN1 NCAPD3 NSDHL PBX1 PHC1 PIK3CD POR PPFIBP1 PPP2R1A PPP2R3C PRKAR1A PROKR2 PTPN11 PUF60 PYCR2 RTTN SASS6 SF3B4 SIX1 SON STIL STS TAF13 TBX1 THOC6 TMCO1 TMEM67 TNXB TRAPPC10 TRAPPC14 TXNL4A WBP11 WDR62 WNT4 XRCC4

Diseases (60) :ORPHA:90348 OMIM:616603 OMIM:618504 ORPHA:2512 OMIM:619504 OMIM:308700 OMIM:617190 OMIM:618494 ORPHA:487796 OMIM:616737 OMIM:614576 OMIM:618142 OMIM:270400 ORPHA:268261 ORPHA:464311 ORPHA:90324 OMIM:113650 OMIM:614083 OMIM:608980 ORPHA:2237 OMIM:118100 ORPHA:672 OMIM:619503 OMIM:619951 OMIM:137920 OMIM:619194 ORPHA:99646 ORPHA:221139 OMIM:617661 ORPHA:79284 OMIM:308205 OMIM:618845 OMIM:308050 OMIM:617641 ORPHA:95699 OMIM:620024 OMIM:616362 ORPHA:457284 OMIM:618419 OMIM:101800 OMIM:244200 OMIM:151100 ORPHA:508488 ORPHA:468631 OMIM:154400 ORPHA:245 ORPHA:500150 OMIM:617140 ORPHA:281090 OMIM:188400 OMIM:613680 ORPHA:363444 OMIM:213980 OMIM:216360 OMIM:606408 OMIM:608572 OMIM:619227 ORPHA:3109 OMIM:158330 OMIM:616541

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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