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:
Growth abnormality (HP:0001507)

Parent Node:
Growth delay (HP:0001510)

..Starting node
..Intrauterine growth retardation (HP:0001511)

Term ID:

1511

Name:

Intrauterine growth retardation

Synonym:

In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant

Definition:

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

Comments:

Reference:

HP:0001511

Genes and Diseases:

Child Nodes:

........

Severe intrauterine growth retardation (HP:0008846)

........

Mild intrauterine growth retardation (HP:0008883)

........

Moderate intrauterine growth retardation (HP:0011408)

Sister Nodes:

Absent pubertal growth spurt (HP:0031087)

Delayed puberty (HP:0000823)

Postnatal growth retardation (HP:0008897)

Short stature (HP:0004322)

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:0001511	HP:0001511	Intrauterine growth retardation	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040283 - Occasional	35
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional	245
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	HP:0040284 - Very rare	51
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	90
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.	11
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	11
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent	59
HP:0001511	HP:0001511	Intrauterine growth retardation	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe		59
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.	89
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.	58
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent	132
HP:0001511	HP:0001511	Intrauterine growth retardation	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	88
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	219
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	25
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.	192
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional	192
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	168
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0001511	HP:0001511	Intrauterine growth retardation	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent	38
HP:0001511	HP:0001511	Intrauterine growth retardation	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent	36
HP:0001511	HP:0001511	Intrauterine growth retardation	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040282 - Frequent	8
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent	72
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME		72
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional	75
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040281 - Very frequent	314
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BRIP1 CL E G H	83990	20473	OMIM:609054	FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ		1086
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	HP:0040283 - Occasional	10
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0001511	HP:0001511	Intrauterine growth retardation	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	31
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3		4
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDKN1C CL E G H	1028	1786	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	114
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDKN1C CL E G H	1028	1786	ORPHA:436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	HP:0040281 - Very frequent	114
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	114
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	200
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	50
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional	25
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.	20
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	20
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	161
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.	161
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	146
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4	.	342
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	68
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.	102
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS		2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0001511	HP:0001511	Intrauterine growth retardation	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0001511	HP:0001511	Intrauterine growth retardation	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0001511	HP:0001511	Intrauterine growth retardation	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0001511	HP:0001511	Intrauterine growth retardation	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0001511	HP:0001511	Intrauterine growth retardation	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0001511	HP:0001511	Intrauterine growth retardation	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0001511	HP:0001511	Intrauterine growth retardation	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	HP:0040283 - Occasional	24
HP:0001511	HP:0001511	Intrauterine growth retardation	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.	44
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001511	HP:0001511	Intrauterine growth retardation	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040282 - Frequent	15
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0001511	HP:0001511	Intrauterine growth retardation	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DBR1 CL E G H	51163	15594	OMIM:619441	ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.	13
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent	72
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.	47
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	22
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.	65
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	65
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040284 - Very rare	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040284 - Very rare	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	45
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent	25
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.	5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS		44
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	91
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	747
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent	134
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent	134
HP:0001511	HP:0001511	Intrauterine growth retardation	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0001511	HP:0001511	Intrauterine growth retardation	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	45
HP:0001511	HP:0001511	Intrauterine growth retardation	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.	172
HP:0001511	HP:0001511	Intrauterine growth retardation	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome		2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0001511	HP:0001511	Intrauterine growth retardation	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11		29
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent	20
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent	20
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2		106
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent	106
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.	83
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent	83
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent	199
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent	199
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent	55
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040281 - Very frequent	92
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0001511	HP:0001511	Intrauterine growth retardation	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	209
HP:0001511	HP:0001511	Intrauterine growth retardation	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	137
HP:0001511	HP:0001511	Intrauterine growth retardation	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent	35
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent	58
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional	53
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	63
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	17
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent	172
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	172
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040283 - Occasional	184
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	11
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	90
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FMR1 CL E G H	2332	3775	ORPHA:261483	Xq27.3q28 duplication syndrome	HP:0040282 - Frequent	30
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	48
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0001511	HP:0001511	Intrauterine growth retardation	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040281 - Very frequent	87
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	87
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	10
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.	37
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent	37
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	37
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM		237
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	237
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional	237
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	28
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	HP:0040284 - Very rare	43
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	39
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040284 - Very rare	120
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	173
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	.	270
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.	143
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040283 - Occasional	101
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040283 - Occasional
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive		3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23	.	30
HP:0001511	HP:0001511	Intrauterine growth retardation	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent	4
HP:0001511	HP:0001511	Intrauterine growth retardation	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040283 - Occasional	580
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040282 - Frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	10
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5		2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional	161
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional	138
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040283 - Occasional	14
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.	28
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent	91
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.	91
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040281 - Very frequent	268
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	62
HP:0001511	HP:0001511	Intrauterine growth retardation	0	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10		62
HP:0001511	HP:0001511	Intrauterine growth retardation	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional	62
HP:0001511	HP:0001511	Intrauterine growth retardation	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0001511	HP:0001511	Intrauterine growth retardation	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0001511	HP:0001511	Intrauterine growth retardation	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0001511	HP:0001511	Intrauterine growth retardation	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35	.	8
HP:0001511	HP:0001511	Intrauterine growth retardation	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	257
HP:0001511	HP:0001511	Intrauterine growth retardation	0	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional	222
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	10
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional	127
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	40
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	HP:0040283 - Occasional	15
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2		18
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional	78
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0001511	HP:0001511	Intrauterine growth retardation	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.	54
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040281 - Very frequent	68
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	13
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent	144
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent	88
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040282 - Frequent	46
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	8
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001511	HP:0001511	Intrauterine growth retardation	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040281 - Very frequent	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040284 - Very rare	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040284 - Very rare	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	45
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040282 - Frequent	183
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent	88
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	72
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent	166
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	48
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent	96
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	96
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22	.	91
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.	50
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30	.	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25	.	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional	32
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040281 - Very frequent	40
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type		55
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	90
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5	.	45
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	45
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.	8
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent	84
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent	5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0001511	HP:0001511	Intrauterine growth retardation	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	53
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	21
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	39
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0001511	HP:0001511	Intrauterine growth retardation	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001511	HP:0001511	Intrauterine growth retardation	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0001511	HP:0001511	Intrauterine growth retardation	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0001511	HP:0001511	Intrauterine growth retardation	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040282 - Frequent	641
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	.	26
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	26
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional	55
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent	531
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	531
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	HP:0040283 - Occasional	113
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040282 - Frequent	113
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent	28
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	88
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent	54
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	30
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional	30
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.	30
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent	37
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	11
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040282 - Frequent	77
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional	7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53		7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	HP:0040283 - Occasional	51
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	11
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.	11
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	11
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional	60
HP:0001511	HP:0001511	Intrauterine growth retardation	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0001511	HP:0001511	Intrauterine growth retardation	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	POLE CL E G H	5426	9177	ORPHA:85173	IMAGe syndrome	HP:0040281 - Very frequent	1129
HP:0001511	HP:0001511	Intrauterine growth retardation	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.	1129
HP:0001511	HP:0001511	Intrauterine growth retardation	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0001511	HP:0001511	Intrauterine growth retardation	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	.	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35		10
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.	27
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040282 - Frequent	27
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency	.	54
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	665
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0001511	HP:0001511	Intrauterine growth retardation	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0001511	HP:0001511	Intrauterine growth retardation	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	85
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	90
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	135
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	73
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040281 - Very frequent	365
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	68
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent	16
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040282 - Frequent	445
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	334
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040282 - Frequent	16
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	13
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	8
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	16
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	.	69
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040281 - Very frequent	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia		37
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.	33
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	.	77
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	77
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040284 - Very rare
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040284 - Very rare
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent	113
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	304
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	16
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	237
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	129
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent	5
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SEC61A1 CL E G H	29927	18276	OMIM:617056	Tubulointerstitial kidney disease, autosomal dominant, 5	.	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040282 - Frequent	6
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040283 - Occasional	49
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.	17
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	67
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	32
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent	70
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040283 - Occasional	82
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent	166
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional	27
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040282 - Frequent	71
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent	504
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent	146
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	617
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.	617
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040281 - Very frequent	74
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	87
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.	87
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	47
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2		135
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent	6
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040282 - Frequent	12
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare	14
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0001511	HP:0001511	Intrauterine growth retardation	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent	110
HP:0001511	HP:0001511	Intrauterine growth retardation	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional	71
HP:0001511	HP:0001511	Intrauterine growth retardation	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0001511	HP:0001511	Intrauterine growth retardation	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0001511	HP:0001511	Intrauterine growth retardation	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.	18
HP:0001511	HP:0001511	Intrauterine growth retardation	0	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040282 - Frequent	18
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0001511	HP:0001511	Intrauterine growth retardation	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	124
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent	15
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome		52
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome		52
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	32
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040282 - Frequent	55
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040281 - Very frequent	19
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.	31
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	238
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	32
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.	60
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent	60
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.	60
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	.	45
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent	63
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.	27
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040281 - Very frequent	78
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040282 - Frequent	7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	26
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	.	26
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent	106
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	14
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	61
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4	.	55
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TYMS CL E G H	7298	12441	OMIM:620040			1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0001511	HP:0001511	Intrauterine growth retardation	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0001511	HP:0001511	Intrauterine growth retardation	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent	25
HP:0001511	HP:0001511	Intrauterine growth retardation	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001511	HP:0001511	Intrauterine growth retardation	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	HP:0040283 - Occasional	23
HP:0001511	HP:0001511	Intrauterine growth retardation	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	23
HP:0001511	HP:0001511	Intrauterine growth retardation	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.	7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001511	HP:0001511	Intrauterine growth retardation	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0001511	HP:0001511	Intrauterine growth retardation	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0001511	HP:0001511	Intrauterine growth retardation	0	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040282 - Frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent	546
HP:0001511	HP:0001511	Intrauterine growth retardation	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent	2
HP:0001511	HP:0001511	Intrauterine growth retardation	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0001511	HP:0001511	Intrauterine growth retardation	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001511	HP:0001511	Intrauterine growth retardation	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0001511	HP:0001511	Intrauterine growth retardation	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0001511	HP:0001511	Intrauterine growth retardation	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent	14
HP:0001511	HP:0001511	Intrauterine growth retardation	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0001511	HP:0001511	Intrauterine growth retardation	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.	4
HP:0001511	HP:0001511	Intrauterine growth retardation	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040282 - Frequent	13
HP:0001511	HP:0001511	Intrauterine growth retardation	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0001511	HP:0001511	Intrauterine growth retardation	0	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent	4
HP:0001511	HP:0001511	Intrauterine growth retardation	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0001511	HP:0001511	Intrauterine growth retardation	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0001511	HP:0001511	Intrauterine growth retardation	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0001511	HP:0001511	Intrauterine growth retardation	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0001511	HP:0001511	Intrauterine growth retardation	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent	7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.	30
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040281 - Very frequent	31
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	34
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.	60
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001511	HP:0001511	Intrauterine growth retardation	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001511	HP:0011408	Moderate intrauterine growth retardation	1	CL E G H
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040282 - Frequent	2
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0001511	HP:0008883	Mild intrauterine growth retardation	1	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	4
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent	91
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	9
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent	229
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0001511	HP:0008883	Mild intrauterine growth retardation	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.	34
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0001511	HP:0008846	Severe intrauterine growth retardation	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52

Genes (583) :AARS1 ABCB7 ABCC8 ABL1 ACADS ACD ADAR ADAT3 ADGRG1 ADGRG6 AFF2 ALDH18A1 ALG1 ALG12 ALG8 ALX4 APPL1 ARCN1 ARID1A ARID1B ARID2 ARL6IP6 ARVCF ASXL1 ASXL2 ASXL3 ATP5F1A ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATR ATRIP AUTS2 B3GALT6 B3GLCT BCAP31 BCR BCS1L BIN1 BLK BLM BMPER BRAF BRCA1 BRCA2 BRD4 BRIP1 BRPF1 BUB1 BUB1B BUB3 CANT1 CARS1 CCDC134 CCDC8 CCNQ CDC42BPB CDC45 CDC6 CDCA7 CDK10 CDK13 CDKN1C CDON CDT1 CEL CENPE CENPJ CEP152 CEP290 CEP57 CHD7 CHRNA1 CHRND CHRNG CITED2 CKAP2L CLCN7 CLPB CNOT1 COG1 COG4 COG5 COG6 COG7 COMT COQ2 COQ4 COQ7 COQ9 CORIN COX16 COX6B1 CPLX1 CREBBP CRKL CTBP1 CTC1 CTDP1 CTNND2 CTSK CTU2 CUL7 CWC27 DBR1 DDX11 DEF6 DHCR24 DHCR7 DHDDS DISP1 DKC1 DLK1 DLL1 DLL3 DNAJC19 DNAJC21 DNMT3A DOK7 DONSON DPF2 DSP DST DYNC2LI1 DYRK1A EFEMP2 EIF5A ELN EMG1 EP300 EPB41L1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 EVC EVC2 EXOSC9 FAM111A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARSB FBLN5 FBN1 FDFT1 FGF8 FGFR1 FGFRL1 FIG4 FKTN FLI1 FLNB FLT1 FLT4 FLVCR2 FMR1 FOCAD FOXH1 FOXRED1 FTO FUT8 GAS1 GATA4 GATA5 GATA6 GATAD2B GATB GATC GBA1 GCK GDF1 GFM1 GFM2 GINS1 GJA5 GLB1 GLI1 GLI2 GLI3 GLIS3 GMNN GNA11 GNAS GP1BB GPKOW GRB10 GTF2E2 GTF2H5 GTPBP3 GUF1 H19 H19-ICR HADH HBB HDAC6 HDAC8 HERC2 HES7 HHAT HIRA HMGA2 HNF1A HNF4A HOXD13 HSD11B2 HYLS1 HYMAI IARS1 IBA57 IDH1 IFIH1 IGF1 IGF1R IGF2 IGHMBP2 IL6ST INS INSR IPW ITPA JAG1 JAM2 JMJD1C JUP KANSL1 KAT6A KATNB1 KCNJ11 KDM6A KDR KIF14 KIF2A KIF5C KLF11 KMT2A KMT2B LAGE3 LAMA5 LARS2 LEMD2 LEMD3 LETM1 LFNG LIFR LIG4 LMBRD1 LMNA LONP1 LRRC32 LTBP1 MAD2L2 MADD MAGEL2 MAPK1 MBTPS2 MCM4 MCM5 MCTP2 MEG3 MESD MESP2 MKRN3 MKRN3-AS1 MKS1 MLXIPL MMACHC MPLKIP MRPS25 MRPS28 MTHFR MTRR MUSK MYH3 MYOD1 MYORG NAA10 NALCN NBN NCAPG2 ND1 ND2 ND3 NDE1 NDUFA1 NDUFA10 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK9 NELFA NEUROD1 NF1 NFE2L2 NFIX NHP2 NIN NIPBL NKX2-5 NKX2-6 NODAL NOP10 NOS3 NPAP1 NPM1 NRCAM NSD2 NSDHL NSUN2 NUBPL NUP107 NUP133 NUP188 NUP85 NUP88 NUS1 OBSL1 ORC1 ORC4 ORC6 OSGEP OTUD5 OTUD6B P4HB PAH PALB2 PARN PAX4 PCDH12 PCGF2 PCNT PDE4D PDE6D PDGFB PDGFRB PDHA1 PDHB PDSS2 PDX1 PET100 PEX2 PEX5 PHGDH PI4KA PIEZO2 PIGG PIK3R1 PKLR PLAG1 PLAGL1 PLK4 PLOD3 PLXND1 PNPT1 POGZ POLA1 POLE POLR3A PPP1R15B PPP2R5D PRDM13 PRIM1 PRKACA PRKACB PRKAR1A PRKDC PRORP PRPS1 PSAT1 PSPH PTCD3 PTCH1 PTDSS1 PTF1A PTPN11 PUF60 PWAR1 PWRN1 PYCR1 QRSL1 RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAF1 RAPSN RARB RB1 RBBP8 RBM10 RECQL4 RELN RERE RFWD3 RFX6 RHAG RHCE RHD RIPK4 RIPPLY2 RMRP RNASEH2A RNF113A RNF2 RNU4ATAC RNU7-1 RPL10 RPL11 RPS19 RREB1 RTEL1 RTL1 RTTN SAMD9 SATB1 SC5D SCO1 SCUBE3 SDHA SDHAF1 SDHB SDHD SEC24C SEC24D SEC31A SEC61A1 SEMA3E SEMA5A SF3B4 SFXN4 SHH SHQ1 SIN3A SIX2 SIX3 SKIC2 SKIC3 SLC18A3 SLC20A2 SLC25A13 SLC25A24 SLC26A2 SLC30A9 SLC35A2 SLC35C1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMPD4 SNORD115-1 SNORD116-1 SNRPB SNRPN SON SOX11 SOX4 SPTBN1 SRPX2 STAG1 STAT3 STN1 STOX1 STRA6 STT3A STT3B SUCLG1 SUFU TAF1 TALDO1 TAPT1 TARS1 TBC1D20 TBCE TBX1 TBX4 TBX6 TCTN3 TDGF1 TELO2 TERC TERT TFAM TFAP2A TGDS TGIF1 TIMM22 TIMMDC1 TINF2 TMEM126B TMEM216 TMEM70 TONSL TOP3A TOR1A TP53RK TPRKB TRAIP TRAPPC11 TRIM37 TRIP13 TRMT10A TSFM TTC7A TUBA1A TUBGCP4 TUBGCP6 TUFM TYMS UBE2T UBR1 UFD1 UNC80 UQCC2 UQCRFS1 USB1 USP9X VANGL2 VPS13B WARS2 WASHC5 WDR4 WDR73 WNT4 WNT7A WRAP53 XPR1 XRCC2 XRCC4 XYLT1 YIF1B YY1 ZBTB18 ZFP57 ZFPM2 ZIC2 ZMPSTE24 ZMYM2 ZNF335 ZNF699 ZPR1

Diseases (505) :OMIM:616339 ORPHA:2802 ORPHA:99885 ORPHA:552 ORPHA:99886 OMIM:617602 ORPHA:26792 OMIM:616553 ORPHA:3322 OMIM:615010 ORPHA:363528 ORPHA:98889 OMIM:616503 ORPHA:100973 OMIM:309548 ORPHA:90348 OMIM:616603 OMIM:219150 OMIM:608540 ORPHA:79324 ORPHA:79325 OMIM:608104 OMIM:613451 ORPHA:228390 OMIM:617164 ORPHA:1465 OMIM:614607 OMIM:135900 ORPHA:1556 ORPHA:567 OMIM:605039 ORPHA:97297 OMIM:617190 OMIM:615485 OMIM:616045 ORPHA:357074 OMIM:219200 OMIM:278250 ORPHA:2834 OMIM:309400 ORPHA:565 ORPHA:808 OMIM:210600 OMIM:615834 ORPHA:2725 ORPHA:709 OMIM:261540 ORPHA:369939 ORPHA:261330 ORPHA:53693 OMIM:603358 OMIM:255200 ORPHA:125 OMIM:210900 OMIM:608022 ORPHA:500 ORPHA:84 OMIM:605724 ORPHA:199 OMIM:609054 OMIM:617333 ORPHA:1052 OMIM:257300 OMIM:251450 OMIM:618891 ORPHA:33364 OMIM:619795 ORPHA:2616 OMIM:300707 OMIM:619841 ORPHA:2554 OMIM:613805 OMIM:616910 OMIM:617694 OMIM:617360 ORPHA:85173 ORPHA:436144 OMIM:614732 ORPHA:397590 ORPHA:280200 OMIM:613804 OMIM:616051 OMIM:613676 OMIM:611134 OMIM:614114 ORPHA:138 OMIM:253290 ORPHA:2990 ORPHA:3303 ORPHA:3255 OMIM:272440 OMIM:618541 OMIM:616271 OMIM:618500 ORPHA:556955 OMIM:619033 OMIM:611209 OMIM:618150 ORPHA:263487 OMIM:614576 OMIM:608779 ORPHA:255249 OMIM:616276 OMIM:616733 OMIM:614654 ORPHA:275555 OMIM:619355 OMIM:619051 ORPHA:280 OMIM:194190 ORPHA:353277 OMIM:612199 ORPHA:1775 ORPHA:48431 ORPHA:281 ORPHA:763 OMIM:618142 OMIM:273750 ORPHA:166035 OMIM:619441 OMIM:613398 OMIM:619573 ORPHA:35107 ORPHA:818 OMIM:270400 OMIM:613861 OMIM:305000 ORPHA:254528 ORPHA:96334 ORPHA:96184 ORPHA:254531 ORPHA:254525 ORPHA:2311 OMIM:610198 ORPHA:66634 OMIM:617052 OMIM:618724 ORPHA:994 OMIM:617604 OMIM:251230 ORPHA:158687 OMIM:614653 ORPHA:289 ORPHA:268261 ORPHA:464311 OMIM:614104 ORPHA:90349 OMIM:619376 OMIM:194050 ORPHA:1270 ORPHA:353284 OMIM:614257 OMIM:610758 ORPHA:90322 ORPHA:1466 OMIM:610756 OMIM:616570 OMIM:133540 OMIM:216400 ORPHA:2319 ORPHA:3103 OMIM:268300 OMIM:618065 ORPHA:93325 ORPHA:1832 OMIM:300514 ORPHA:3412 OMIM:227645 OMIM:603467 OMIM:609053 OMIM:614083 OMIM:613658 OMIM:616914 OMIM:618156 ORPHA:2117 OMIM:216340 ORPHA:272 ORPHA:2308 OMIM:150250 OMIM:225790 ORPHA:261483 OMIM:619991 ORPHA:2609 OMIM:612938 OMIM:618005 ORPHA:251071 OMIM:600001 ORPHA:2255 ORPHA:363686 OMIM:618838 OMIM:618839 OMIM:608013 OMIM:606176 OMIM:609060 ORPHA:565624 OMIM:618397 OMIM:617827 ORPHA:79255 OMIM:230500 OMIM:146510 ORPHA:672 OMIM:610199 ORPHA:79445 ORPHA:2570 ORPHA:96182 OMIM:616943 OMIM:616395 OMIM:616198 OMIM:617065 ORPHA:231144 OMIM:180860 ORPHA:71212 ORPHA:2133 OMIM:300863 ORPHA:163966 OMIM:176270 ORPHA:1422 ORPHA:94063 OMIM:618908 ORPHA:887 ORPHA:320 OMIM:236680 OMIM:601410 ORPHA:96191 ORPHA:541423 OMIM:617093 OMIM:615330 ORPHA:99646 OMIM:615846 ORPHA:73272 OMIM:608747 ORPHA:73273 OMIM:270450 OMIM:604320 OMIM:619751 OMIM:613370 OMIM:246200 ORPHA:508 ORPHA:769 OMIM:616647 ORPHA:1980 OMIM:610443 OMIM:616268 ORPHA:89844 OMIM:300867 OMIM:616258 OMIM:615411 OMIM:615282 ORPHA:319182 OMIM:619934 ORPHA:2065 OMIM:301006 OMIM:620076 OMIM:617021 OMIM:619322 ORPHA:3206 ORPHA:235 ORPHA:79284 ORPHA:1662 OMIM:619793 ORPHA:79243 OMIM:619074 OMIM:619004 OMIM:619005 ORPHA:85284 OMIM:609981 OMIM:617564 ORPHA:1596 OMIM:618644 OMIM:249000 ORPHA:79282 OMIM:619025 OMIM:618958 ORPHA:563609 ORPHA:2169 OMIM:208150 OMIM:300855 ORPHA:371364 OMIM:251260 OMIM:618460 ORPHA:2177 OMIM:618243 OMIM:618253 OMIM:618237 OMIM:618238 OMIM:618776 OMIM:619003 OMIM:301021 OMIM:618246 OMIM:620135 OMIM:617022 ORPHA:97685 OMIM:617744 ORPHA:447980 ORPHA:319675 OMIM:614851 OMIM:122470 ORPHA:3384 OMIM:270100 OMIM:189800 OMIM:619833 OMIM:619695 OMIM:308050 OMIM:618804 OMIM:617082 OMIM:612921 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:617729 OMIM:301056 ORPHA:505237 OMIM:617452 ORPHA:2050 ORPHA:2209 OMIM:616353 OMIM:251280 OMIM:618371 ORPHA:2637 OMIM:210720 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:615665 ORPHA:255138 OMIM:260370 OMIM:619055 OMIM:614866 OMIM:214110 ORPHA:79351 OMIM:256520 ORPHA:436252 ORPHA:2461 OMIM:248700 ORPHA:488635 OMIM:616917 OMIM:269880 OMIM:266200 ORPHA:2518 OMIM:616171 OMIM:612394 ORPHA:319514 OMIM:616364 OMIM:301030 ORPHA:163976 OMIM:618336 OMIM:264090 ORPHA:3455 OMIM:616817 ORPHA:391408 OMIM:616355 OMIM:619909 OMIM:619761 OMIM:620005 OMIM:101800 OMIM:615966 OMIM:619737 ORPHA:423479 OMIM:616038 ORPHA:284417 OMIM:614023 OMIM:619057 OMIM:151050 OMIM:609069 ORPHA:508488 OMIM:612940 OMIM:614438 OMIM:618835 ORPHA:2510 OMIM:617751 ORPHA:2470 ORPHA:1587 OMIM:311900 ORPHA:2886 ORPHA:1225 OMIM:616975 ORPHA:494344 OMIM:617784 OMIM:615710 ORPHA:71275 OMIM:263650 OMIM:607095 OMIM:610333 OMIM:300953 OMIM:619460 OMIM:226960 ORPHA:2636 OMIM:210710 ORPHA:353298 OMIM:616651 OMIM:619487 OMIM:300998 OMIM:612562 OMIM:105650 OMIM:615190 ORPHA:468631 OMIM:617053 OMIM:619229 ORPHA:46059 OMIM:619048 OMIM:619184 ORPHA:3208 OMIM:618651 OMIM:617056 ORPHA:1788 OMIM:615578 OMIM:619922 OMIM:613406 ORPHA:488437 ORPHA:84064 OMIM:614602 OMIM:222470 ORPHA:247598 OMIM:612289 ORPHA:2963 ORPHA:628 OMIM:617595 OMIM:300896 ORPHA:356961 ORPHA:99843 OMIM:139210 ORPHA:2588 ORPHA:2728 OMIM:601358 OMIM:614609 OMIM:242900 ORPHA:1830 OMIM:614608 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:618622 ORPHA:1393 ORPHA:177907 ORPHA:500150 OMIM:617140 OMIM:615866 OMIM:619475 OMIM:617635 ORPHA:502434 OMIM:617341 OMIM:601186 OMIM:619714 OMIM:615597 ORPHA:370924 OMIM:245400 OMIM:300966 OMIM:606003 OMIM:616897 ORPHA:93324 OMIM:241410 OMIM:244460 ORPHA:2323 ORPHA:261279 ORPHA:1797 OMIM:614815 ORPHA:2753 ORPHA:488642 OMIM:617156 ORPHA:1297 OMIM:113620 OMIM:616145 OMIM:618851 OMIM:613990 OMIM:268130 OMIM:603194 OMIM:614052 ORPHA:1194 ORPHA:93357 OMIM:618097 OMIM:618947 OMIM:616777 OMIM:615356 ORPHA:2576 OMIM:253250 OMIM:610505 OMIM:243150 OMIM:610678 OMIM:620040 OMIM:243800 ORPHA:2315 OMIM:616801 OMIM:615824 OMIM:618775 OMIM:300919 ORPHA:193 OMIM:617710 ORPHA:572798 OMIM:220210 OMIM:618347 OMIM:618346 OMIM:251300 OMIM:611812 ORPHA:2879 OMIM:616541 OMIM:615777 OMIM:619125 ORPHA:506358 OMIM:617557 OMIM:612337 OMIM:275210 OMIM:619522 OMIM:615095 OMIM:619488 OMIM:619321

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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