Human Phenotype Ontology 
Grandparent Node:
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Abnormality of body weight (HP:0004323)help
Parent Node:
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Decreased body weight (HP:0004325)help
..Starting node
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Small for gestational age (HP:0001518)help
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: 
..expandDecreased body mass index (HP:0045082) help
..expandEunuchoid habitus (HP:0003782) help
..expandFailure to thrive (HP:0001508) help
..expandSlender build (HP:0001533) help
..expandWeight loss (HP:0001824) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001518HP:0001518Small for gestational age0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0001518HP:0001518Small for gestational age0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0001518HP:0001518Small for gestational age0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1322132102630
HP:0001518HP:0001518Small for gestational age0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM1349132102630
HP:0001518HP:0001518Small for gestational age0ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA132738100790
HP:0001518HP:0001518Small for gestational age0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM145414262607270
HP:0001518HP:0001518Small for gestational age0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM143914262607270
HP:0001518HP:0001518Small for gestational age0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM16171149602860
HP:0001518HP:0001518Small for gestational age0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM15111149602860
HP:0001518HP:0001518Small for gestational age0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM19525367614145
HP:0001518HP:0001518Small for gestational age0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM14725367614145
HP:0001518HP:0001518Small for gestational age0CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM124428434300708
HP:0001518HP:0001518Small for gestational age0CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM123928434300708
HP:0001518HP:0001518Small for gestational age0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM121230794607951
HP:0001518HP:0001518Small for gestational age0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM127530794607951
HP:0001518HP:0001518Small for gestational age0CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM13692171600016
HP:0001518HP:0001518Small for gestational age0CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM14262171600016
HP:0001518HP:0001518Small for gestational age0COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM116552197120150
HP:0001518HP:0001518Small for gestational age0COL1A1 CL E G H1277166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM113972197120150
HP:0001518HP:0001518Small for gestational age0COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM112032198120160
HP:0001518HP:0001518Small for gestational age0COL1A2 CL E G H1278166210Osteogenesis imperfecta, recessive perinatal lethal166210C0268360OMIM110422198120160
HP:0001518HP:0001518Small for gestational age0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM1672244601683
HP:0001518HP:0001518Small for gestational age0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM11072244601683
HP:0001518HP:0001518Small for gestational age0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0001518HP:0001518Small for gestational age0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0001518HP:0001518Small for gestational age0CREB3L1 CL E G H90993616229Osteogenesis imperfecta, type xvi616229C4015610OMIM112518856616215
HP:0001518HP:0001518Small for gestational age0CREB3L1 CL E G H90993616229Osteogenesis imperfecta, type xvi616229C4015610OMIM18118856616215
HP:0001518HP:0001518Small for gestational age0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0001518HP:0001518Small for gestational age0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0001518HP:0001518Small for gestational age0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM142321024609577
HP:0001518HP:0001518Small for gestational age0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM132421024609577
HP:0001518HP:0001518Small for gestational age0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM19127030617048
HP:0001518HP:0001518Small for gestational age0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM118727030617048
HP:0001518HP:0001518Small for gestational age0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM17662974602378
HP:0001518HP:0001518Small for gestational age0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM16752974602378
HP:0001518HP:0001518Small for gestational age0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM164526594610285
HP:0001518HP:0001518Small for gestational age0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM175026594610285
HP:0001518HP:0001518Small for gestational age0EMG1 CL E G H10436211180Bowen-Conradi syndrome211180C1859405OMIM16916912611531
HP:0001518HP:0001518Small for gestational age0EMG1 CL E G H10436211180Bowen-Conradi syndrome211180C1859405OMIM16316912611531
HP:0001518HP:0001518Small for gestational age0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001518HP:0001518Small for gestational age0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001518HP:0001518Small for gestational age0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM19463438609413
HP:0001518HP:0001518Small for gestational age0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM18253438609413
HP:0001518HP:0001518Small for gestational age0FAM111A CL E G H63901127000Kenny-Caffey syndrome type 2127000C4316787OMIM17924725615292
HP:0001518HP:0001518Small for gestational age0FAM111A CL E G H63901127000Kenny-Caffey syndrome type 2127000C4316787OMIM16424725615292
HP:0001518HP:0001518Small for gestational age0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM126583582607139
HP:0001518HP:0001518Small for gestational age0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM131463582607139
HP:0001518HP:0001518Small for gestational age0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM110793584613899
HP:0001518HP:0001518Small for gestational age0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM111753584613899
HP:0001518HP:0001518Small for gestational age0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM18643585613984
HP:0001518HP:0001518Small for gestational age0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM17293585613984
HP:0001518HP:0001518Small for gestational age0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM13603586613976
HP:0001518HP:0001518Small for gestational age0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM12813586613976
HP:0001518HP:0001518Small for gestational age0FBN1 CL E G H2200284979ORPHA154573603134797
HP:0001518HP:0001518Small for gestational age0FBN1 CL E G H2200284979ORPHA149683603134797
HP:0001518HP:0001518Small for gestational age0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM145813601605654
HP:0001518HP:0001518Small for gestational age0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM147413601605654
HP:0001518HP:0001518Small for gestational age0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0001518HP:0001518Small for gestational age0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0001518HP:0001518Small for gestational age0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0001518HP:0001518Small for gestational age0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0001518HP:0001518Small for gestational age0FZD4 CL E G H832290050ORPHA13214042604579
HP:0001518HP:0001518Small for gestational age0FZD4 CL E G H832290050ORPHA12664042604579
HP:0001518HP:0001518Small for gestational age0GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA12504174601656
HP:0001518HP:0001518Small for gestational age0GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA13254174601656
HP:0001518HP:0001518Small for gestational age0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0001518HP:0001518Small for gestational age0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0001518HP:0001518Small for gestational age0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0001518HP:0001518Small for gestational age0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0001518HP:0001518Small for gestational age0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM11164651189964
HP:0001518HP:0001518Small for gestational age0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM1904651189964
HP:0001518HP:0001518Small for gestational age0H19 CL E G H283120180860Russell-Silver syndrome180860C0175693OMIM1534713103280
HP:0001518HP:0001518Small for gestational age0H19 CL E G H283120180860Russell-Silver syndrome180860C0175693OMIM1514713103280
HP:0001518HP:0001518Small for gestational age0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM15274801600890
HP:0001518HP:0001518Small for gestational age0HADHA CL E G H3030609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM14774801600890
HP:0001518HP:0001518Small for gestational age0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12134803143450
HP:0001518HP:0001518Small for gestational age0HADHB CL E G H3032609015Mitochondrial trifunctional protein deficiency609015C0342786OMIM12424803143450
HP:0001518HP:0001518Small for gestational age0HSD11B2 CL E G H3291218030Apparent mineralocorticoid excess218030C2936861OMIM1745209614232
HP:0001518HP:0001518Small for gestational age0HSD11B2 CL E G H3291218030Apparent mineralocorticoid excess218030C2936861OMIM1725209614232
HP:0001518HP:0001518Small for gestational age0IGF1 CL E G H347973272ORPHA11705464147440
HP:0001518HP:0001518Small for gestational age0IGF1 CL E G H347973272ORPHA11785464147440
HP:0001518HP:0001518Small for gestational age0IGF2 CL E G H3481180860Russell-Silver syndrome180860C0175693OMIM1875466147470
HP:0001518HP:0001518Small for gestational age0IGF2 CL E G H3481180860Russell-Silver syndrome180860C0175693OMIM1785466147470
HP:0001518HP:0001518Small for gestational age0IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM18405542600502
HP:0001518HP:0001518Small for gestational age0IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM19105542600502
HP:0001518HP:0001518Small for gestational age0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0001518HP:0001518Small for gestational age0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0001518HP:0001518Small for gestational age0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15086091147670
HP:0001518HP:0001518Small for gestational age0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15416091147670
HP:0001518HP:0001518Small for gestational age0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11996255600359
HP:0001518HP:0001518Small for gestational age0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11896255600359
HP:0001518HP:0001518Small for gestational age0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0001518HP:0001518Small for gestational age0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0001518HP:0001518Small for gestational age0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0001518HP:0001518Small for gestational age0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0001518HP:0001518Small for gestational age0LRP5 CL E G H404190050ORPHA18616697603506
HP:0001518HP:0001518Small for gestational age0LRP5 CL E G H404190050ORPHA111276697603506
HP:0001518HP:0001518Small for gestational age0MCTP2 CL E G H557841596ORPHA110325636616297
HP:0001518HP:0001518Small for gestational age0MCTP2 CL E G H557841596ORPHA110425636616297
HP:0001518HP:0001518Small for gestational age0MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM16914048609204
HP:0001518HP:0001518Small for gestational age0MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM16014048609204
HP:0001518HP:0001518Small for gestational age0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM121819261614667
HP:0001518HP:0001518Small for gestational age0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM136219261614667
HP:0001518HP:0001518Small for gestational age0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM14507525601296
HP:0001518HP:0001518Small for gestational age0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM13837525601296
HP:0001518HP:0001518Small for gestational age0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM15337573160720
HP:0001518HP:0001518Small for gestational age0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM14447573160720
HP:0001518HP:0001518Small for gestational age0NDP CL E G H469390050ORPHA12637678300658
HP:0001518HP:0001518Small for gestational age0NDP CL E G H469390050ORPHA12457678300658
HP:0001518HP:0001518Small for gestational age0NPHS1 CL E G H4868256300Finnish congenital nephrotic syndrome256300C0403399OMIM18077908602716
HP:0001518HP:0001518Small for gestational age0NPHS1 CL E G H4868256300Finnish congenital nephrotic syndrome256300C0403399OMIM18857908602716
HP:0001518HP:0001518Small for gestational age0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM126212766602952
HP:0001518HP:0001518Small for gestational age0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM124912766602952
HP:0001518HP:0001518Small for gestational age0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM140125994610916
HP:0001518HP:0001518Small for gestational age0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM138625994610916
HP:0001518HP:0001518Small for gestational age0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM11918487601902
HP:0001518HP:0001518Small for gestational age0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM11448487601902
HP:0001518HP:0001518Small for gestational age0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM15929679614336
HP:0001518HP:0001518Small for gestational age0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM17829679614336
HP:0001518HP:0001518Small for gestational age0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0001518HP:0001518Small for gestational age0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0001518HP:0001518Small for gestational age0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0001518HP:0001518Small for gestational age0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0001518HP:0001518Small for gestational age0PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA16099143603851
HP:0001518HP:0001518Small for gestational age0PHOX2B CL E G H892999803Haddad syndromeC1859587ORPHA15129143603851
HP:0001518HP:0001518Small for gestational age0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM12628979171833
HP:0001518HP:0001518Small for gestational age0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM13078979171833
HP:0001518HP:0001518Small for gestational age0PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM180816268603197
HP:0001518HP:0001518Small for gestational age0PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM166916268603197
HP:0001518HP:0001518Small for gestational age0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM17424488614783
HP:0001518HP:0001518Small for gestational age0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM15624488614783
HP:0001518HP:0001518Small for gestational age0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM13599208124015
HP:0001518HP:0001518Small for gestational age0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM12849208124015
HP:0001518HP:0001518Small for gestational age0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13514951613257
HP:0001518HP:0001518Small for gestational age0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13714951613257
HP:0001518HP:0001518Small for gestational age0PTF1A CL E G H256297615935Pancreatic agenesis 2615935C4014737OMIM17423734607194
HP:0001518HP:0001518Small for gestational age0PTF1A CL E G H256297615935Pancreatic agenesis 2615935C4014737OMIM17923734607194
HP:0001518HP:0001518Small for gestational age0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM11859689612719
HP:0001518HP:0001518Small for gestational age0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM11649689612719
HP:0001518HP:0001518Small for gestational age0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM13229863601592
HP:0001518HP:0001518Small for gestational age0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM13789863601592
HP:0001518HP:0001518Small for gestational age0RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM12119891604124
HP:0001518HP:0001518Small for gestational age0RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM11579891604124
HP:0001518HP:0001518Small for gestational age0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM132749949603780
HP:0001518HP:0001518Small for gestational age0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM127519949603780
HP:0001518HP:0001518Small for gestational age0RET CL E G H597999803Haddad syndromeC1859587ORPHA120509967164761
HP:0001518HP:0001518Small for gestational age0RET CL E G H597999803Haddad syndromeC1859587ORPHA118079967164761
HP:0001518HP:0001518Small for gestational age0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM18919440607444
HP:0001518HP:0001518Small for gestational age0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM18219440607444
HP:0001518HP:0001518Small for gestational age0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM118519353607776
HP:0001518HP:0001518Small for gestational age0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM116519353607776
HP:0001518HP:0001518Small for gestational age0SIX2 CL E G H10736488437ORPHA12610888604994
HP:0001518HP:0001518Small for gestational age0SIX2 CL E G H10736488437ORPHA12410888604994
HP:0001518HP:0001518Small for gestational age0SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM129810898600478
HP:0001518HP:0001518Small for gestational age0SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM116510898600478
HP:0001518HP:0001518Small for gestational age0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM132710910600839
HP:0001518HP:0001518Small for gestational age0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM128110910600839
HP:0001518HP:0001518Small for gestational age0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM17111301604857
HP:0001518HP:0001518Small for gestational age0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM19711301604857
HP:0001518HP:0001518Small for gestational age0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM17716950606247
HP:0001518HP:0001518Small for gestational age0STAMBP CL E G H10617614261Microcephaly-capillary malformation syndrome614261C3280296OMIM110416950606247
HP:0001518HP:0001518Small for gestational age0TAF13 CL E G H6884617432Mental retardation, autosomal recessive 60617432C4479476OMIM13311546600774
HP:0001518HP:0001518Small for gestational age0TAF13 CL E G H6884617432Mental retardation, autosomal recessive 60617432C4479476OMIM13411546600774
HP:0001518HP:0001518Small for gestational age0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM111611559602063
HP:0001518HP:0001518Small for gestational age0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM19611559602063
HP:0001518HP:0001518Small for gestational age0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM115626887612758
HP:0001518HP:0001518Small for gestational age0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM119026887612758
HP:0001518HP:0001518Small for gestational age0TBR1 CL E G H107161617ORPHA110511590604616
HP:0001518HP:0001518Small for gestational age0TBR1 CL E G H107161617ORPHA110311590604616
HP:0001518HP:0001518Small for gestational age0TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM138711769190230
HP:0001518HP:0001518Small for gestational age0TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM135711769190230
HP:0001518HP:0001518Small for gestational age0THRB CL E G H7068274300Thyroid hormone resistance, generalized, autosomal recessive274300C3489796OMIM131711799190160
HP:0001518HP:0001518Small for gestational age0THRB CL E G H7068274300Thyroid hormone resistance, generalized, autosomal recessive274300C3489796OMIM132211799190160
HP:0001518HP:0001518Small for gestational age0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM117626050612418
HP:0001518HP:0001518Small for gestational age0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM122026050612418
HP:0001518HP:0001518Small for gestational age0TRAIP CL E G H10293616777Seckel syndrome 9616777C4225212OMIM14730764605958
HP:0001518HP:0001518Small for gestational age0TRAIP CL E G H10293616777Seckel syndrome 9616777C4225212OMIM14630764605958
HP:0001518HP:0001518Small for gestational age0TSHR CL E G H7253424ORPHA120412373603372
HP:0001518HP:0001518Small for gestational age0TSHR CL E G H7253424ORPHA120312373603372
HP:0001518HP:0001518Small for gestational age0TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM120412373603372
HP:0001518HP:0001518Small for gestational age0TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM120312373603372
HP:0001518HP:0001518Small for gestational age0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM120123639614589
HP:0001518HP:0001518Small for gestational age0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM138623639614589
HP:0001518HP:0001518Small for gestational age0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM114816808605981
HP:0001518HP:0001518Small for gestational age0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM118716808605981
HP:0001518HP:0001518Small for gestational age0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM126112183607817
HP:0001518HP:0001518Small for gestational age0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM131822183607817
HP:0001518HP:0001518Small for gestational age0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM113125928616144
HP:0001518HP:0001518Small for gestational age0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM112925928616144
HP:0001518HP:0001518Small for gestational age0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0001518HP:0001518Small for gestational age0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM119915807610827
HP:0001518HP:0001518Small for gestational age0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM126215807610827
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001518HP:0001518Small for gestational age0CRIPT CL E G H9419615789Short stature with microcephaly and distinctive facies615789C4014339OMIM03814312604594
HP:0001518HP:0001518Small for gestational age0CRIPT CL E G H9419615789Short stature with microcephaly and distinctive facies615789C4014339OMIM03914312604594
HP:0001518HP:0001518Small for gestational age0DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM06683091600855
HP:0001518HP:0001518Small for gestational age0DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM06083091600855
HP:0001518HP:0001518Small for gestational age0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM01903267300161
HP:0001518HP:0001518Small for gestational age0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM01963267300161
HP:0001518HP:0001518Small for gestational age0EPCAM CL E G H4072613217Diarrhea 5, with tufting enteropathy, congenital613217C2750737OMIM037411529185535
HP:0001518HP:0001518Small for gestational age0EPCAM CL E G H4072613217Diarrhea 5, with tufting enteropathy, congenital613217C2750737OMIM036011529185535
HP:0001518HP:0001518Small for gestational age0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM04517493602842
HP:0001518HP:0001518Small for gestational age0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM03917493602842
HP:0001518HP:0001518Small for gestational age0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0104724565612452
HP:0001518HP:0001518Small for gestational age0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM0114324565612452
HP:0001518HP:0001518Small for gestational age0PUF60 CL E G H22827508488ORPHA016317042604819
HP:0001518HP:0001518Small for gestational age0PUF60 CL E G H22827508488ORPHA015117042604819
HP:0001518HP:0001518Small for gestational age0RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM038310432300075
HP:0001518HP:0001518Small for gestational age0RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM040410432300075
HP:0001518HP:0001518Small for gestational age0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM014956770600993
HP:0001518HP:0001518Small for gestational age0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM013596770600993
HP:0001518HP:0001518Small for gestational age0SPR CL E G H669770594ORPHA014511257182125
HP:0001518HP:0001518Small for gestational age0SPR CL E G H669770594ORPHA012811257182125


Genes (106) :ABCC8 ACTB ASCL1 AUTS2 BUB1B CCDC8 CCNQ CEP57 CNTN1 COL1A1 COL1A2 COQ7 CPLX1 CREB3L1 CRIPT CTBP1 CUL7 DNAJC21 DNM2 DOK7 DYRK1A EIF2S3 EMG1 EPCAM ERCC2 ERCC6 FAM111A FANCA FANCC FANCD2 FANCE FBN1 FBXL4 FGFRL1 FLCN FZD4 GATA6 GCK GK GMNN GTF2E2 H19 HADHA HADHB HSD11B2 IGF1 IGF2 IGHMBP2 INS INSR KANSL1 KCNJ1 KCNJ11 LETM1 LRP5 MCTP2 MRPS16 MTO1 MUSK MYH3 NDP NPHS1 NSD2 NSUN2 ORC1 PAM16 PDHA1 PDX1 PHOX2B PIK3R1 PNPLA6 POC1A POR PPP1R15B PTF1A PTS PUF60 RAPSN RBBP8 RECQL4 RET RPS6KA3 SBDS SIN3A SIX2 SKIV2L SLC12A1 SMAD4 SPR SRP54 STAMBP TAF13 TALDO1 TAPT1 TBR1 TGFB3 THRB TMEM70 TRAIP TSHR TTC37 UBR1 VPS13B WDR73 WHCR ZNF335

Diseases (87) :606176 607371 99803 615834 257300 614205 300707 614114 612540 166210 616733 194190 616229 615789 273750 260400 615368 208150 614104 300148 211180 613217 601675 133540 127000 227650 227645 227646 600901 284979 615471 610883 90050 2255 307030 616835 616943 180860 609015 218030 73272 604320 262190 610443 241200 1596 610498 614702 193700 256300 611091 224690 613320 312170 269880 275400 614813 201750 616817 615935 261640 508488 606744 268400 300844 613406 488437 614602 601678 139210 70594 614261 617432 606003 616897 1617 615582 274300 614052 616777 424 609152 222470 243800 216550 251300 615095
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.