Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of body weight (HP:0004323)

Parent Node:
Decreased body weight (HP:0004325)

..Starting node
..Small for gestational age (HP:0001518)

Term ID:

1518

Name:

Small for gestational age

Synonym:

Birth weight less than 10th percentile; Low birth weight; Small for gestational age

Definition:

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.

Comments:

Reference:

HP:0001518

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased body mass index (HP:0045082)

Eunuchoid habitus (HP:0003782)

Failure to thrive (HP:0001508)

Slender build (HP:0001533)

Weight loss (HP:0001824)

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:0001518	HP:0001518	Small for gestational age	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	146
HP:0001518	HP:0001518	Small for gestational age	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	111
HP:0001518	HP:0001518	Small for gestational age	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3		245
HP:0001518	HP:0001518	Small for gestational age	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0001518	HP:0001518	Small for gestational age	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0001518	HP:0001518	Small for gestational age	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.	72
HP:0001518	HP:0001518	Small for gestational age	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0001518	HP:0001518	Small for gestational age	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent	104
HP:0001518	HP:0001518	Small for gestational age	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0001518	HP:0001518	Small for gestational age	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0001518	HP:0001518	Small for gestational age	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040282 - Frequent	2
HP:0001518	HP:0001518	Small for gestational age	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040284 - Very rare	125
HP:0001518	HP:0001518	Small for gestational age	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	15
HP:0001518	HP:0001518	Small for gestational age	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0001518	HP:0001518	Small for gestational age	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	144
HP:0001518	HP:0001518	Small for gestational age	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent	61
HP:0001518	HP:0001518	Small for gestational age	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.	61
HP:0001518	HP:0001518	Small for gestational age	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001518	HP:0001518	Small for gestational age	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0001518	HP:0001518	Small for gestational age	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040281 - Very frequent	314
HP:0001518	HP:0001518	Small for gestational age	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	53
HP:0001518	HP:0001518	Small for gestational age	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0001518	HP:0001518	Small for gestational age	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001518	HP:0001518	Small for gestational age	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001518	HP:0001518	Small for gestational age	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0001518	HP:0001518	Small for gestational age	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0001518	HP:0001518	Small for gestational age	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0001518	HP:0001518	Small for gestational age	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0001518	HP:0001518	Small for gestational age	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	114
HP:0001518	HP:0001518	Small for gestational age	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive		20
HP:0001518	HP:0001518	Small for gestational age	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0001518	HP:0001518	Small for gestational age	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	9
HP:0001518	HP:0001518	Small for gestational age	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	27
HP:0001518	HP:0001518	Small for gestational age	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional	6
HP:0001518	HP:0001518	Small for gestational age	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent	2
HP:0001518	HP:0001518	Small for gestational age	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0001518	HP:0001518	Small for gestational age	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0001518	HP:0001518	Small for gestational age	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.	373
HP:0001518	HP:0001518	Small for gestational age	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.	243
HP:0001518	HP:0001518	Small for gestational age	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8		1
HP:0001518	HP:0001518	Small for gestational age	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	5
HP:0001518	HP:0001518	Small for gestational age	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0001518	HP:0001518	Small for gestational age	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001518	HP:0001518	Small for gestational age	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.	4
HP:0001518	HP:0001518	Small for gestational age	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001518	HP:0001518	Small for gestational age	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0001518	HP:0001518	Small for gestational age	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001518	HP:0001518	Small for gestational age	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent	20
HP:0001518	HP:0001518	Small for gestational age	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0001518	HP:0001518	Small for gestational age	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0001518	HP:0001518	Small for gestational age	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040284 - Very rare	2
HP:0001518	HP:0001518	Small for gestational age	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040284 - Very rare	24
HP:0001518	HP:0001518	Small for gestational age	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001518	HP:0001518	Small for gestational age	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001518	HP:0001518	Small for gestational age	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0001518	HP:0001518	Small for gestational age	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:0001518	HP:0001518	Small for gestational age	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0001518	HP:0001518	Small for gestational age	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.	167
HP:0001518	HP:0001518	Small for gestational age	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001518	HP:0001518	Small for gestational age	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:0001518	HP:0001518	Small for gestational age	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent	134
HP:0001518	HP:0001518	Small for gestational age	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0001518	HP:0001518	Small for gestational age	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0001518	HP:0001518	Small for gestational age	0	EMG1 CL E G H	10436	16912	OMIM:211180	Bowen-Conradi syndrome	.	2
HP:0001518	HP:0001518	Small for gestational age	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001518	HP:0001518	Small for gestational age	0	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital	HP:0040283 - Occasional	170
HP:0001518	HP:0001518	Small for gestational age	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2	.	106
HP:0001518	HP:0001518	Small for gestational age	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0001518	HP:0001518	Small for gestational age	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G		83
HP:0001518	HP:0001518	Small for gestational age	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0001518	HP:0001518	Small for gestational age	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0001518	HP:0001518	Small for gestational age	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0001518	HP:0001518	Small for gestational age	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0001518	HP:0001518	Small for gestational age	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0001518	HP:0001518	Small for gestational age	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001518	HP:0001518	Small for gestational age	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0001518	HP:0001518	Small for gestational age	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001518	HP:0001518	Small for gestational age	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0001518	HP:0001518	Small for gestational age	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0001518	HP:0001518	Small for gestational age	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001518	HP:0001518	Small for gestational age	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0001518	HP:0001518	Small for gestational age	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0001518	HP:0001518	Small for gestational age	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	11
HP:0001518	HP:0001518	Small for gestational age	0	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent	109
HP:0001518	HP:0001518	Small for gestational age	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional	23
HP:0001518	HP:0001518	Small for gestational age	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	29
HP:0001518	HP:0001518	Small for gestational age	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent	37
HP:0001518	HP:0001518	Small for gestational age	0	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM		237
HP:0001518	HP:0001518	Small for gestational age	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0001518	HP:0001518	Small for gestational age	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0001518	HP:0001518	Small for gestational age	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0001518	HP:0001518	Small for gestational age	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional	434
HP:0001518	HP:0001518	Small for gestational age	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0001518	HP:0001518	Small for gestational age	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0001518	HP:0001518	Small for gestational age	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0001518	HP:0001518	Small for gestational age	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent	4
HP:0001518	HP:0001518	Small for gestational age	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent	4
HP:0001518	HP:0001518	Small for gestational age	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0001518	HP:0001518	Small for gestational age	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.	99
HP:0001518	HP:0001518	Small for gestational age	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.	60
HP:0001518	HP:0001518	Small for gestational age	0	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5		2
HP:0001518	HP:0001518	Small for gestational age	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	2
HP:0001518	HP:0001518	Small for gestational age	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional	161
HP:0001518	HP:0001518	Small for gestational age	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.	14
HP:0001518	HP:0001518	Small for gestational age	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0001518	HP:0001518	Small for gestational age	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0001518	HP:0001518	Small for gestational age	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:0001518	HP:0001518	Small for gestational age	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0001518	HP:0001518	Small for gestational age	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent	9
HP:0001518	HP:0001518	Small for gestational age	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	9
HP:0001518	HP:0001518	Small for gestational age	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent	9
HP:0001518	HP:0001518	Small for gestational age	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0001518	HP:0001518	Small for gestational age	0	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4		62
HP:0001518	HP:0001518	Small for gestational age	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0001518	HP:0001518	Small for gestational age	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	99
HP:0001518	HP:0001518	Small for gestational age	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0001518	HP:0001518	Small for gestational age	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0001518	HP:0001518	Small for gestational age	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0001518	HP:0001518	Small for gestational age	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001518	HP:0001518	Small for gestational age	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0001518	HP:0001518	Small for gestational age	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0001518	HP:0001518	Small for gestational age	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent	14
HP:0001518	HP:0001518	Small for gestational age	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001518	HP:0001518	Small for gestational age	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001518	HP:0001518	Small for gestational age	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040281 - Very frequent	8
HP:0001518	HP:0001518	Small for gestational age	0	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent	125
HP:0001518	HP:0001518	Small for gestational age	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	63
HP:0001518	HP:0001518	Small for gestational age	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	63
HP:0001518	HP:0001518	Small for gestational age	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	63
HP:0001518	HP:0001518	Small for gestational age	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040284 - Very rare	5
HP:0001518	HP:0001518	Small for gestational age	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001518	HP:0001518	Small for gestational age	0	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0001518	HP:0001518	Small for gestational age	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040281 - Very frequent	3
HP:0001518	HP:0001518	Small for gestational age	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional	1
HP:0001518	HP:0001518	Small for gestational age	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:0001518	HP:0001518	Small for gestational age	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0001518	HP:0001518	Small for gestational age	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	12
HP:0001518	HP:0001518	Small for gestational age	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.	39
HP:0001518	HP:0001518	Small for gestational age	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0001518	HP:0001518	Small for gestational age	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0001518	HP:0001518	Small for gestational age	0	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive
HP:0001518	HP:0001518	Small for gestational age	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0001518	HP:0001518	Small for gestational age	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0001518	HP:0001518	Small for gestational age	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0001518	HP:0001518	Small for gestational age	0	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent	39
HP:0001518	HP:0001518	Small for gestational age	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0001518	HP:0001518	Small for gestational age	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001518	HP:0001518	Small for gestational age	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	4
HP:0001518	HP:0001518	Small for gestational age	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0001518	HP:0001518	Small for gestational age	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0001518	HP:0001518	Small for gestational age	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241
HP:0001518	HP:0001518	Small for gestational age	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	14
HP:0001518	HP:0001518	Small for gestational age	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001518	HP:0001518	Small for gestational age	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0001518	HP:0001518	Small for gestational age	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS		2
HP:0001518	HP:0001518	Small for gestational age	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0001518	HP:0001518	Small for gestational age	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0001518	HP:0001518	Small for gestational age	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0001518	HP:0001518	Small for gestational age	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0001518	HP:0001518	Small for gestational age	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	121
HP:0001518	HP:0001518	Small for gestational age	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	121
HP:0001518	HP:0001518	Small for gestational age	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	121
HP:0001518	HP:0001518	Small for gestational age	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0001518	HP:0001518	Small for gestational age	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001518	HP:0001518	Small for gestational age	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0001518	HP:0001518	Small for gestational age	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0001518	HP:0001518	Small for gestational age	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0001518	HP:0001518	Small for gestational age	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040281 - Very frequent	88
HP:0001518	HP:0001518	Small for gestational age	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0001518	HP:0001518	Small for gestational age	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0001518	HP:0001518	Small for gestational age	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	86
HP:0001518	HP:0001518	Small for gestational age	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0001518	HP:0001518	Small for gestational age	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0001518	HP:0001518	Small for gestational age	0	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4		3
HP:0001518	HP:0001518	Small for gestational age	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	3
HP:0001518	HP:0001518	Small for gestational age	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0001518	HP:0001518	Small for gestational age	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.	103
HP:0001518	HP:0001518	Small for gestational age	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0001518	HP:0001518	Small for gestational age	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0001518	HP:0001518	Small for gestational age	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0001518	HP:0001518	Small for gestational age	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001518	HP:0001518	Small for gestational age	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0001518	HP:0001518	Small for gestational age	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent	2
HP:0001518	HP:0001518	Small for gestational age	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0001518	HP:0001518	Small for gestational age	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040282 - Frequent	28
HP:0001518	HP:0001518	Small for gestational age	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0001518	HP:0001518	Small for gestational age	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0001518	HP:0001518	Small for gestational age	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001518	HP:0001518	Small for gestational age	0	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2	.	22
HP:0001518	HP:0001518	Small for gestational age	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0001518	HP:0001518	Small for gestational age	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0001518	HP:0001518	Small for gestational age	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2	.	68
HP:0001518	HP:0001518	Small for gestational age	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040282 - Frequent	445
HP:0001518	HP:0001518	Small for gestational age	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0001518	HP:0001518	Small for gestational age	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040281 - Very frequent	572
HP:0001518	HP:0001518	Small for gestational age	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0001518	HP:0001518	Small for gestational age	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0001518	HP:0001518	Small for gestational age	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0001518	HP:0001518	Small for gestational age	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001518	HP:0001518	Small for gestational age	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0001518	HP:0001518	Small for gestational age	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001518	HP:0001518	Small for gestational age	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001518	HP:0001518	Small for gestational age	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001518	HP:0001518	Small for gestational age	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	11
HP:0001518	HP:0001518	Small for gestational age	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	40
HP:0001518	HP:0001518	Small for gestational age	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	26
HP:0001518	HP:0001518	Small for gestational age	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0001518	HP:0001518	Small for gestational age	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	5
HP:0001518	HP:0001518	Small for gestational age	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	42
HP:0001518	HP:0001518	Small for gestational age	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001518	HP:0001518	Small for gestational age	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0001518	HP:0001518	Small for gestational age	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0001518	HP:0001518	Small for gestational age	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001518	HP:0001518	Small for gestational age	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001518	HP:0001518	Small for gestational age	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0001518	HP:0001518	Small for gestational age	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0001518	HP:0001518	Small for gestational age	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0001518	HP:0001518	Small for gestational age	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0001518	HP:0001518	Small for gestational age	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001518	HP:0001518	Small for gestational age	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0001518	HP:0001518	Small for gestational age	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0001518	HP:0001518	Small for gestational age	0	SHROOM4 CL E G H	57477	29215	ORPHA:85288	X-linked intellectual disability, Stocco Dos Santos type	HP:0040282 - Frequent	42
HP:0001518	HP:0001518	Small for gestational age	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent	9
HP:0001518	HP:0001518	Small for gestational age	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0001518	HP:0001518	Small for gestational age	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2
HP:0001518	HP:0001518	Small for gestational age	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001518	HP:0001518	Small for gestational age	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0001518	HP:0001518	Small for gestational age	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0001518	HP:0001518	Small for gestational age	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0001518	HP:0001518	Small for gestational age	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0001518	HP:0001518	Small for gestational age	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040284 - Very rare	57
HP:0001518	HP:0001518	Small for gestational age	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001518	HP:0001518	Small for gestational age	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia		166
HP:0001518	HP:0001518	Small for gestational age	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040282 - Frequent	71
HP:0001518	HP:0001518	Small for gestational age	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0001518	HP:0001518	Small for gestational age	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0001518	HP:0001518	Small for gestational age	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0001518	HP:0001518	Small for gestational age	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	37
HP:0001518	HP:0001518	Small for gestational age	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	37
HP:0001518	HP:0001518	Small for gestational age	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	37
HP:0001518	HP:0001518	Small for gestational age	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040283 - Occasional	28
HP:0001518	HP:0001518	Small for gestational age	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040281 - Very frequent	138
HP:0001518	HP:0001518	Small for gestational age	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001518	HP:0001518	Small for gestational age	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0001518	HP:0001518	Small for gestational age	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0001518	HP:0001518	Small for gestational age	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	2
HP:0001518	HP:0001518	Small for gestational age	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.	1129
HP:0001518	HP:0001518	Small for gestational age	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0001518	HP:0001518	Small for gestational age	0	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	.	2
HP:0001518	HP:0001518	Small for gestational age	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0001518	HP:0001518	Small for gestational age	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0001518	HP:0001518	Small for gestational age	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0001518	HP:0001518	Small for gestational age	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0001518	HP:0001518	Small for gestational age	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0001518	HP:0001518	Small for gestational age	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive	.	161
HP:0001518	HP:0001518	Small for gestational age	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0001518	HP:0001518	Small for gestational age	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0001518	HP:0001518	Small for gestational age	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040282 - Frequent
HP:0001518	HP:0001518	Small for gestational age	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	140
HP:0001518	HP:0001518	Small for gestational age	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.	2
HP:0001518	HP:0001518	Small for gestational age	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.	1
HP:0001518	HP:0001518	Small for gestational age	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent	7
HP:0001518	HP:0001518	Small for gestational age	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040281 - Very frequent	97
HP:0001518	HP:0001518	Small for gestational age	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.	97
HP:0001518	HP:0001518	Small for gestational age	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0001518	HP:0001518	Small for gestational age	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0001518	HP:0001518	Small for gestational age	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5		17
HP:0001518	HP:0001518	Small for gestational age	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001518	HP:0001518	Small for gestational age	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0001518	HP:0001518	Small for gestational age	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0001518	HP:0001518	Small for gestational age	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0001518	HP:0001518	Small for gestational age	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0001518	HP:0001518	Small for gestational age	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0001518	HP:0001518	Small for gestational age	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0001518	HP:0001518	Small for gestational age	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0001518	HP:0001518	Small for gestational age	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0001518	HP:0001518	Small for gestational age	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.	60
HP:0001518	HP:0001518	Small for gestational age	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (242) :ABCB11 ABCB4 ABCC8 ACADVL ACTB ADA2 ALB ALG12 ALG8 ANAPC1 AR ASCL1 ASH1L ATP8B1 AUTS2 B4GALT1 BLM BSND BUB1B CAMK2B CARS1 CAV1 CCDC8 CCNQ CDAN1 CDKN1C CENPE CEP57 CLCNKA CLCNKB CLTCL1 CNOT1 CNTN1 COG7 COL1A1 COL1A2 COQ7 CORIN COX20 CPLX1 CREB3L1 CREBBP CRIPT CTBP1 CTCF CTNNB1 CUL7 CYB5A CYB5R3 DALRD3 DEF6 DLK1 DNAJC21 DNM2 DTYMK DYRK1A EIF2S3 EMG1 EP300 EPCAM ERCC2 ERCC5 ERCC6 FAM111A FANCA FANCC FANCD2 FANCE FARSB FBN1 FBXL4 FGFRL1 FIG4 FLCN FLT1 FZD4 GALK1 GATA1 GATA6 GCK GK GMNN GRB10 GRIN2A GTF2E2 GUF1 H19 H19-ICR HADHA HADHB HMGA2 HNF1A HSD11B2 HUWE1 HYMAI IGF1 IGF2 IGHMBP2 INS INSR IRF6 KANSL1 KARS1 KCNJ1 KCNJ11 KIF22 LETM1 LMBRD1 LONP1 LRP5 MAGEL2 MAMLD1 MAPKAPK5 MBTPS1 MCTP2 MEG3 MRPS16 MSX1 MTO1 MUSK MYH3 NCAPH NDN NDP NDUFA6 NDUFB7 NECTIN1 NGLY1 NKX3-2 NPHS1 NR1H4 NSD2 NSF NSMCE3 NSUN2 NUDT2 NUP188 OBSL1 OCA2 ORC1 OTUD5 PAM16 PAX2 PBX1 PDHA1 PET100 PHOX2B PIK3C2A PIK3R1 PLAG1 PLAGL1 PNPLA6 POC1A POLR3A POR PPFIBP1 PPP1R15B PPP2R3C PQBP1 PRKAR1A PRPS1 PTCD3 PTF1A PTS PUF60 RBBP8 RECQL4 RET RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RTL1 SALL1 SBDS SHROOM4 SIN3A SIX2 SKIC2 SKIC3 SLC12A1 SLC16A2 SLC25A24 SLC26A2 SLC35C1 SMAD4 SMARCAL1 SNRPN SPR SRCAP SRP54 STAG1 STAMBP STOX1 SYNE1 TAF13 TALDO1 TAPT1 TBL1XR1 TBR1 THOC2 THRB TIMM22 TMEM70 TONSL TP63 TRAIP TRMT1 TRMT10A TSHR TSR2 UBR1 UQCRC2 UQCRFS1 VARS2 VPS13B VPS33B WDR4 WDR73 YIPF5 YY1 ZFP57 ZNF335 ZNF699

Diseases (204) :ORPHA:69665 OMIM:618857 ORPHA:99886 ORPHA:26793 OMIM:607371 ORPHA:124 ORPHA:86816 OMIM:607143 ORPHA:79325 ORPHA:221008 ORPHA:95706 ORPHA:99803 OMIM:617796 ORPHA:352490 OMIM:615834 ORPHA:79332 OMIM:210900 ORPHA:125 ORPHA:89938 OMIM:257300 OMIM:617799 OMIM:618891 OMIM:606721 OMIM:614205 OMIM:300707 OMIM:224120 ORPHA:397590 OMIM:616051 OMIM:614114 ORPHA:453510 ORPHA:556955 OMIM:612540 ORPHA:79333 OMIM:166210 OMIM:616733 ORPHA:275555 OMIM:619054 OMIM:194190 OMIM:616229 OMIM:180849 OMIM:615789 ORPHA:363611 OMIM:615075 OMIM:273750 ORPHA:621 OMIM:618910 OMIM:619573 ORPHA:254534 ORPHA:96184 OMIM:260400 OMIM:615368 OMIM:619847 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:300148 OMIM:211180 OMIM:613217 OMIM:610756 OMIM:601675 OMIM:278780 OMIM:214150 OMIM:133540 OMIM:127000 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:613658 ORPHA:284979 OMIM:615471 OMIM:216340 OMIM:610883 ORPHA:90050 ORPHA:79237 ORPHA:2255 OMIM:606176 OMIM:307030 OMIM:616835 ORPHA:96182 ORPHA:289266 OMIM:245570 OMIM:616943 OMIM:617065 ORPHA:231144 ORPHA:231140 OMIM:180860 OMIM:609015 OMIM:618908 ORPHA:324575 OMIM:218030 OMIM:309590 ORPHA:73272 OMIM:604320 OMIM:618858 OMIM:262190 ORPHA:199302 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619147 OMIM:241200 ORPHA:93360 OMIM:277380 ORPHA:79243 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:619869 OMIM:618392 ORPHA:1596 OMIM:610498 OMIM:614702 OMIM:208150 OMIM:193700 OMIM:617985 OMIM:618253 OMIM:620135 ORPHA:404454 OMIM:613330 OMIM:256300 OMIM:619340 OMIM:617241 OMIM:611091 OMIM:619844 OMIM:618804 OMIM:612921 OMIM:224690 OMIM:301056 OMIM:613320 ORPHA:97362 OMIM:312170 OMIM:619055 OMIM:618440 OMIM:269880 OMIM:618907 OMIM:275400 OMIM:614813 OMIM:264090 OMIM:201750 OMIM:620024 OMIM:616817 ORPHA:391408 OMIM:618419 ORPHA:93950 OMIM:101800 OMIM:300661 OMIM:619057 OMIM:615935 OMIM:261640 ORPHA:508488 OMIM:606744 ORPHA:221016 OMIM:268400 OMIM:226960 OMIM:300844 OMIM:107480 ORPHA:85288 ORPHA:94065 OMIM:613406 ORPHA:488437 ORPHA:84064 OMIM:614602 OMIM:222470 OMIM:601678 ORPHA:59 OMIM:612289 OMIM:222600 ORPHA:99843 OMIM:139210 OMIM:242900 ORPHA:1830 ORPHA:70594 ORPHA:2044 OMIM:617635 OMIM:614261 OMIM:618484 ORPHA:319332 OMIM:617432 OMIM:606003 OMIM:616897 ORPHA:487825 ORPHA:1617 OMIM:300957 OMIM:274300 OMIM:618851 OMIM:614052 ORPHA:93357 OMIM:616777 OMIM:618302 ORPHA:424 OMIM:609152 OMIM:243800 OMIM:615160 OMIM:618775 OMIM:615917 OMIM:216550 OMIM:208085 OMIM:618346 OMIM:251300 OMIM:619278 ORPHA:506358 OMIM:615095 OMIM:619488

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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