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:
Abnormality of prenatal development or birth (HP:0001197)

Parent Node:
Abnormality of the amniotic fluid (HP:0001560)

..Starting node
..Oligohydramnios (HP:0001562)

Term ID:

1562

Name:

Oligohydramnios

Synonym:

Decreased amniotic fluid index; Low levels of amniotic fluid; Maternal oligohydramnios

Definition:

Diminished amniotic fluid volume in pregnancy.

Comments:

Reference:

HP:0001562

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fetal polyuria (HP:0001563)

Meconium stained amniotic fluid (HP:0012420)

Polyhydramnios (HP:0001561)

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:0001562	HP:0001562	Oligohydramnios	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.	113
HP:0001562	HP:0001562	Oligohydramnios	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5		23
HP:0001562	HP:0001562	Oligohydramnios	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.	48
HP:0001562	HP:0001562	Oligohydramnios	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.	33
HP:0001562	HP:0001562	Oligohydramnios	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0001562	HP:0001562	Oligohydramnios	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional	104
HP:0001562	HP:0001562	Oligohydramnios	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0001562	HP:0001562	Oligohydramnios	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0001562	HP:0001562	Oligohydramnios	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0001562	HP:0001562	Oligohydramnios	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0001562	HP:0001562	Oligohydramnios	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0001562	HP:0001562	Oligohydramnios	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent	132
HP:0001562	HP:0001562	Oligohydramnios	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0001562	HP:0001562	Oligohydramnios	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional	15
HP:0001562	HP:0001562	Oligohydramnios	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0001562	HP:0001562	Oligohydramnios	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0001562	HP:0001562	Oligohydramnios	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0001562	HP:0001562	Oligohydramnios	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0001562	HP:0001562	Oligohydramnios	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0001562	HP:0001562	Oligohydramnios	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0001562	HP:0001562	Oligohydramnios	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare	22
HP:0001562	HP:0001562	Oligohydramnios	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0001562	HP:0001562	Oligohydramnios	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0001562	HP:0001562	Oligohydramnios	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0001562	HP:0001562	Oligohydramnios	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0001562	HP:0001562	Oligohydramnios	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0001562	HP:0001562	Oligohydramnios	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0001562	HP:0001562	Oligohydramnios	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0001562	HP:0001562	Oligohydramnios	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001562	HP:0001562	Oligohydramnios	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	114
HP:0001562	HP:0001562	Oligohydramnios	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0001562	HP:0001562	Oligohydramnios	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0001562	HP:0001562	Oligohydramnios	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0001562	HP:0001562	Oligohydramnios	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040282 - Frequent	4
HP:0001562	HP:0001562	Oligohydramnios	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0001562	HP:0001562	Oligohydramnios	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional	6
HP:0001562	HP:0001562	Oligohydramnios	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0001562	HP:0001562	Oligohydramnios	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional	3
HP:0001562	HP:0001562	Oligohydramnios	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional	54
HP:0001562	HP:0001562	Oligohydramnios	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.	1
HP:0001562	HP:0001562	Oligohydramnios	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10		4
HP:0001562	HP:0001562	Oligohydramnios	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	HP:0040283 - Occasional	101
HP:0001562	HP:0001562	Oligohydramnios	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0001562	HP:0001562	Oligohydramnios	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001562	HP:0001562	Oligohydramnios	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001562	HP:0001562	Oligohydramnios	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001562	HP:0001562	Oligohydramnios	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0001562	HP:0001562	Oligohydramnios	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0001562	HP:0001562	Oligohydramnios	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0001562	HP:0001562	Oligohydramnios	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001562	HP:0001562	Oligohydramnios	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	747
HP:0001562	HP:0001562	Oligohydramnios	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:0001562	HP:0001562	Oligohydramnios	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:0001562	HP:0001562	Oligohydramnios	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	4
HP:0001562	HP:0001562	Oligohydramnios	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0001562	HP:0001562	Oligohydramnios	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	HP:0040283 - Occasional	45
HP:0001562	HP:0001562	Oligohydramnios	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0001562	HP:0001562	Oligohydramnios	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001562	HP:0001562	Oligohydramnios	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001562	HP:0001562	Oligohydramnios	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0001562	HP:0001562	Oligohydramnios	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0001562	HP:0001562	Oligohydramnios	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0001562	HP:0001562	Oligohydramnios	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0001562	HP:0001562	Oligohydramnios	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001562	HP:0001562	Oligohydramnios	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0001562	HP:0001562	Oligohydramnios	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001562	HP:0001562	Oligohydramnios	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0001562	HP:0001562	Oligohydramnios	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0001562	HP:0001562	Oligohydramnios	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0001562	HP:0001562	Oligohydramnios	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001562	HP:0001562	Oligohydramnios	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001562	HP:0001562	Oligohydramnios	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0001562	HP:0001562	Oligohydramnios	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001562	HP:0001562	Oligohydramnios	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	2
HP:0001562	HP:0001562	Oligohydramnios	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001562	HP:0001562	Oligohydramnios	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001562	HP:0001562	Oligohydramnios	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional	37
HP:0001562	HP:0001562	Oligohydramnios	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	1
HP:0001562	HP:0001562	Oligohydramnios	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0001562	HP:0001562	Oligohydramnios	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.	34
HP:0001562	HP:0001562	Oligohydramnios	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001562	HP:0001562	Oligohydramnios	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0001562	HP:0001562	Oligohydramnios	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0001562	HP:0001562	Oligohydramnios	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent	4
HP:0001562	HP:0001562	Oligohydramnios	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent	200
HP:0001562	HP:0001562	Oligohydramnios	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent	88
HP:0001562	HP:0001562	Oligohydramnios	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0001562	HP:0001562	Oligohydramnios	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	2
HP:0001562	HP:0001562	Oligohydramnios	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional	90
HP:0001562	HP:0001562	Oligohydramnios	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001562	HP:0001562	Oligohydramnios	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0001562	HP:0001562	Oligohydramnios	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001562	HP:0001562	Oligohydramnios	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0001562	HP:0001562	Oligohydramnios	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0001562	HP:0001562	Oligohydramnios	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent	9
HP:0001562	HP:0001562	Oligohydramnios	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	9
HP:0001562	HP:0001562	Oligohydramnios	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0001562	HP:0001562	Oligohydramnios	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0001562	HP:0001562	Oligohydramnios	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001562	HP:0001562	Oligohydramnios	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	4
HP:0001562	HP:0001562	Oligohydramnios	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.	4
HP:0001562	HP:0001562	Oligohydramnios	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	222
HP:0001562	HP:0001562	Oligohydramnios	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.	9
HP:0001562	HP:0001562	Oligohydramnios	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0001562	HP:0001562	Oligohydramnios	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.	54
HP:0001562	HP:0001562	Oligohydramnios	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0001562	HP:0001562	Oligohydramnios	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent	144
HP:0001562	HP:0001562	Oligohydramnios	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0001562	HP:0001562	Oligohydramnios	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0001562	HP:0001562	Oligohydramnios	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0001562	HP:0001562	Oligohydramnios	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0001562	HP:0001562	Oligohydramnios	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0001562	HP:0001562	Oligohydramnios	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001562	HP:0001562	Oligohydramnios	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0001562	HP:0001562	Oligohydramnios	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0001562	HP:0001562	Oligohydramnios	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0001562	HP:0001562	Oligohydramnios	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0001562	HP:0001562	Oligohydramnios	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional	166
HP:0001562	HP:0001562	Oligohydramnios	0	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0001562	HP:0001562	Oligohydramnios	0	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310		326
HP:0001562	HP:0001562	Oligohydramnios	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001562	HP:0001562	Oligohydramnios	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional	48
HP:0001562	HP:0001562	Oligohydramnios	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001562	HP:0001562	Oligohydramnios	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001562	HP:0001562	Oligohydramnios	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.	43
HP:0001562	HP:0001562	Oligohydramnios	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0001562	HP:0001562	Oligohydramnios	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0001562	HP:0001562	Oligohydramnios	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0001562	HP:0001562	Oligohydramnios	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040282 - Frequent	157
HP:0001562	HP:0001562	Oligohydramnios	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0001562	HP:0001562	Oligohydramnios	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0001562	HP:0001562	Oligohydramnios	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0001562	HP:0001562	Oligohydramnios	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0001562	HP:0001562	Oligohydramnios	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:0001562	HP:0001562	Oligohydramnios	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0001562	HP:0001562	Oligohydramnios	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional	54
HP:0001562	HP:0001562	Oligohydramnios	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital		30
HP:0001562	HP:0001562	Oligohydramnios	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0001562	HP:0001562	Oligohydramnios	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0001562	HP:0001562	Oligohydramnios	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional	86
HP:0001562	HP:0001562	Oligohydramnios	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0001562	HP:0001562	Oligohydramnios	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0001562	HP:0001562	Oligohydramnios	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0001562	HP:0001562	Oligohydramnios	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0001562	HP:0001562	Oligohydramnios	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0001562	HP:0001562	Oligohydramnios	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent	563
HP:0001562	HP:0001562	Oligohydramnios	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.	563
HP:0001562	HP:0001562	Oligohydramnios	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent	3
HP:0001562	HP:0001562	Oligohydramnios	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001562	HP:0001562	Oligohydramnios	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0001562	HP:0001562	Oligohydramnios	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0001562	HP:0001562	Oligohydramnios	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001562	HP:0001562	Oligohydramnios	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001562	HP:0001562	Oligohydramnios	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0001562	HP:0001562	Oligohydramnios	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0001562	HP:0001562	Oligohydramnios	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.	25
HP:0001562	HP:0001562	Oligohydramnios	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional	572
HP:0001562	HP:0001562	Oligohydramnios	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent	572
HP:0001562	HP:0001562	Oligohydramnios	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001562	HP:0001562	Oligohydramnios	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	13
HP:0001562	HP:0001562	Oligohydramnios	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	8
HP:0001562	HP:0001562	Oligohydramnios	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	16
HP:0001562	HP:0001562	Oligohydramnios	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001562	HP:0001562	Oligohydramnios	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0001562	HP:0001562	Oligohydramnios	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0001562	HP:0001562	Oligohydramnios	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0001562	HP:0001562	Oligohydramnios	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001562	HP:0001562	Oligohydramnios	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001562	HP:0001562	Oligohydramnios	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0001562	HP:0001562	Oligohydramnios	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0001562	HP:0001562	Oligohydramnios	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001562	HP:0001562	Oligohydramnios	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0001562	HP:0001562	Oligohydramnios	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0001562	HP:0001562	Oligohydramnios	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001562	HP:0001562	Oligohydramnios	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001562	HP:0001562	Oligohydramnios	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0001562	HP:0001562	Oligohydramnios	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0001562	HP:0001562	Oligohydramnios	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0001562	HP:0001562	Oligohydramnios	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0001562	HP:0001562	Oligohydramnios	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0001562	HP:0001562	Oligohydramnios	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0001562	HP:0001562	Oligohydramnios	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0001562	HP:0001562	Oligohydramnios	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0001562	HP:0001562	Oligohydramnios	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0001562	HP:0001562	Oligohydramnios	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0001562	HP:0001562	Oligohydramnios	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0001562	HP:0001562	Oligohydramnios	0	TMEM231 CL E G H	79583	37234	OMIM:615397	Meckel syndrome, type 11	.	33
HP:0001562	HP:0001562	Oligohydramnios	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0001562	HP:0001562	Oligohydramnios	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0001562	HP:0001562	Oligohydramnios	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0001562	HP:0001562	Oligohydramnios	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040281 - Very frequent	63
HP:0001562	HP:0001562	Oligohydramnios	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency		28
HP:0001562	HP:0001562	Oligohydramnios	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0001562	HP:0001562	Oligohydramnios	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0001562	HP:0001562	Oligohydramnios	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0001562	HP:0001562	Oligohydramnios	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0001562	HP:0001562	Oligohydramnios	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0001562	HP:0001562	Oligohydramnios	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0001562	HP:0001562	Oligohydramnios	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0001562	HP:0001562	Oligohydramnios	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0001562	HP:0001562	Oligohydramnios	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0001562	HP:0001562	Oligohydramnios	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040280 - Obligate	4
HP:0001562	HP:0001562	Oligohydramnios	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0001562	HP:0001562	Oligohydramnios	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0001562	HP:0001562	Oligohydramnios	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83

Genes (182) :ACE ACTG2 AGT AGTR1 ALB ALG8 ALG9 ALX4 AMER1 ASCL1 ATN1 B3GALT6 B9D1 B9D2 BIN1 BMPER BNC2 BRCA1 BRCA2 BRIP1 BUB1B C1QBP CA2 CC2D2A CDC42BPB CDKN1C CEP290 CEP55 CERT1 CHRM3 CLTCL1 COG5 COL25A1 COQ2 COQ7 COX14 CPT2 CSPP1 DALRD3 DDX6 DEF6 DHPS DOCK6 DONSON DPF2 DSP DYRK1A DZIP1L EBF3 EFEMP2 ERCC4 ERGIC1 EXOSC9 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSA FARSB FBLN5 FBN1 FGF20 FXR1 GATA6 GFRA1 GLI3 GMPPB GNB2 GNPTAB GREB1L H19 HBA1 HBA2 HERC2 HMGA2 HNF1B HS2ST1 HSPA9 HYMAI IARS1 IFIH1 IGF2 INPPL1 INVS IPW ITGA8 JUP KIF14 LAMB2 LARS2 LHX1 LIFR MAD2L2 MAGEL2 MBTPS2 MKRN3 MKRN3-AS1 MKS1 MYH11 MYH3 MYL9 MYLK NAA10 NALCN NDUFA6 NDUFB7 NEK8 NEK9 NPAP1 NPHP3 OSGEP PALB2 PAX2 PBX1 PDSS2 PDX1 PGAP2 PGAP3 PHOX2B PIGL PIGO PIGV PIGW PIGY PKHD1 PLAG1 PLAGL1 POR PUF60 PWAR1 PWRN1 RAD51 RAD51C REN RET RFWD3 RHAG RHCE RHD RNF2 RNU4ATAC RPGRIP1 RPGRIP1L SATB1 SCYL2 SEC24D SETD1A SLC25A24 SLC35A2 SLX4 SNORD115-1 SNORD116-1 SNRPN TALDO1 TBCK TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TMEM70 TPI1 TRIP4 TXNDC15 UBE2A UBE2T UQCC2 VPS33B WDR73 WNT4 WNT9B XRCC2 ZMPSTE24

Diseases (127) :OMIM:267430 OMIM:619431 OMIM:616000 ORPHA:86816 ORPHA:79325 OMIM:608104 ORPHA:79328 OMIM:263210 OMIM:613451 ORPHA:228390 OMIM:300373 ORPHA:99803 OMIM:618494 ORPHA:536467 ORPHA:564 OMIM:255200 OMIM:608022 ORPHA:93110 ORPHA:84 OMIM:257300 OMIM:617713 ORPHA:2785 OMIM:619841 ORPHA:397590 OMIM:236500 OMIM:616351 ORPHA:2970 OMIM:100100 ORPHA:453510 ORPHA:263487 ORPHA:1143 ORPHA:255249 OMIM:616733 OMIM:619053 OMIM:608836 OMIM:618910 OMIM:618653 OMIM:619573 OMIM:618480 OMIM:614219 OMIM:251230 OMIM:618027 ORPHA:158687 ORPHA:268261 ORPHA:464311 ORPHA:731 OMIM:617330 OMIM:614437 OMIM:618065 OMIM:619013 OMIM:613658 OMIM:219100 OMIM:616914 ORPHA:1848 OMIM:618823 OMIM:618822 ORPHA:2255 ORPHA:672 OMIM:615350 OMIM:619503 ORPHA:576 ORPHA:231144 ORPHA:163596 OMIM:176270 ORPHA:261265 OMIM:619194 OMIM:616854 ORPHA:96191 ORPHA:541423 OMIM:615846 OMIM:258480 OMIM:602088 OMIM:191830 OMIM:616258 OMIM:609049 OMIM:617021 ORPHA:3206 OMIM:601559 OMIM:308205 OMIM:249000 OMIM:619351 OMIM:193700 ORPHA:2053 OMIM:619365 OMIM:249210 OMIM:300855 OMIM:618253 OMIM:620135 OMIM:615415 OMIM:617022 OMIM:267010 ORPHA:3032 OMIM:208540 OMIM:617729 ORPHA:97362 OMIM:617641 OMIM:260370 ORPHA:247262 OMIM:263200 OMIM:201750 ORPHA:508488 ORPHA:71275 OMIM:619460 OMIM:210710 OMIM:619229 OMIM:616294 OMIM:619056 OMIM:612289 OMIM:300896 ORPHA:177907 OMIM:606003 OMIM:616900 ORPHA:488632 ORPHA:2753 OMIM:615397 OMIM:614052 ORPHA:1194 OMIM:615512 OMIM:616866 OMIM:619879 ORPHA:163956 OMIM:615824 OMIM:208085 OMIM:251300 OMIM:611812 ORPHA:139466 OMIM:275210

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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