Human Phenotype Ontology 
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Clinical course (HP:0031797)help
Parent Node:
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Onset (HP:0003674)help
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Antenatal onset (HP:0030674)help
Term ID: 30674
Name: Antenatal onset
Synonym: Intrauterine onset; Onset in utero; Prenatal onset
Definition: Onset prior to birth.
Comments:
Reference: HP:0030674
Genes and Diseases:
 
       Child Nodes:
........expandEmbryonal onset (HP:0011460) help
........expandFetal onset (HP:0011461) help

 Sister Nodes: 
..expandAdult onset (HP:0003581) help
..expandChildhood onset (HP:0011463) help
..expandCongenital onset (HP:0003577) help
..expandInfantile onset (HP:0003593) help
..expandJuvenile onset (HP:0003621) help
..expandNeonatal onset (HP:0003623) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030674HP:0030674Antenatal onset0ACTG2 CL E G H72145OMIM:619431MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS523
HP:0030674HP:0030674Antenatal onset0ALDH1A2 CL E G H885415472OMIM:620025
HP:0030674HP:0030674Antenatal onset0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0030674HP:0030674Antenatal onset0ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 2789
HP:0030674HP:0030674Antenatal onset0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0030674HP:0030674Antenatal onset0ATP1A2 CL E G H477800OMIM:619602FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD239
HP:0030674HP:0030674Antenatal onset0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0030674HP:0030674Antenatal onset0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0030674HP:0030674Antenatal onset0BICC1 CL E G H8011419351OMIM:601331Renal dysplasia, cystic, susceptibility to5
HP:0030674HP:0030674Antenatal onset0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0030674HP:0030674Antenatal onset0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0030674HP:0030674Antenatal onset0CALM2 CL E G H8051445OMIM:616249Long QT syndrome 1513
HP:0030674HP:0030674Antenatal onset0CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6247
HP:0030674HP:0030674Antenatal onset0CCDC134 CL E G H7987926185OMIM:619795OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0030674HP:0030674Antenatal onset0CDC42BPB CL E G H95781738OMIM:619841
HP:0030674HP:0030674Antenatal onset0CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive20
HP:0030674HP:0030674Antenatal onset0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0030674HP:0030674Antenatal onset0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0030674HP:0030674Antenatal onset0CHUK CL E G H11471974OMIM:613630Fetal encasement syndrome3
HP:0030674HP:0030674Antenatal onset0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0030674HP:0030674Antenatal onset0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0030674HP:0030674Antenatal onset0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0030674HP:0030674Antenatal onset0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0030674HP:0030674Antenatal onset0CPSF3 CL E G H516922326OMIM:619876
HP:0030674HP:0030674Antenatal onset0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0030674HP:0030674Antenatal onset0CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0030674HP:0030674Antenatal onset0CYP26B1 CL E G H5660320581OMIM:614416RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA4
HP:0030674HP:0030674Antenatal onset0DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0030674HP:0030674Antenatal onset0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type
HP:0030674HP:0030674Antenatal onset0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030674HP:0030674Antenatal onset0DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0030674HP:0030674Antenatal onset0DPH5 CL E G H5161124270OMIM:620070
HP:0030674HP:0030674Antenatal onset0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0030674HP:0030674Antenatal onset0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0030674HP:0030674Antenatal onset0ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 383
HP:0030674HP:0030674Antenatal onset0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0030674HP:0030674Antenatal onset0EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0030674HP:0030674Antenatal onset0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0030674HP:0030674Antenatal onset0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0030674HP:0030674Antenatal onset0FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0030674HP:0030674Antenatal onset0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0030674HP:0030674Antenatal onset0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0030674HP:0030674Antenatal onset0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0030674HP:0030674Antenatal onset0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0030674HP:0030674Antenatal onset0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0030674HP:0030674Antenatal onset0GFRA1 CL E G H26744243OMIM:6198871
HP:0030674HP:0030674Antenatal onset0GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55
HP:0030674HP:0030674Antenatal onset0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0030674HP:0030674Antenatal onset0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0030674HP:0030674Antenatal onset0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0030674HP:0030674Antenatal onset0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0030674HP:0030674Antenatal onset0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0030674HP:0030674Antenatal onset0IL6ST CL E G H35726021OMIM:619751STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0030674HP:0030674Antenatal onset0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0030674HP:0030674Antenatal onset0KDELR2 CL E G H110146305OMIM:619131OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0030674HP:0030674Antenatal onset0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0030674HP:0030674Antenatal onset0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0030674HP:0030674Antenatal onset0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0030674HP:0030674Antenatal onset0KIDINS220 CL E G H5749829508OMIM:619501VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG4
HP:0030674HP:0030674Antenatal onset0KIF20A CL E G H101129787OMIM:619433CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0030674HP:0030674Antenatal onset0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0030674HP:0030674Antenatal onset0KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0030674HP:0030674Antenatal onset0KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV42
HP:0030674HP:0030674Antenatal onset0KMT2B CL E G H975715840OMIM:61993411
HP:0030674HP:0030674Antenatal onset0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0030674HP:0030674Antenatal onset0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0030674HP:0030674Antenatal onset0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect6
HP:0030674HP:0030674Antenatal onset0LMNA CL E G H40006636OMIM:619793RESTRICTIVE DERMOPATHY 2; RSDM2645
HP:0030674HP:0030674Antenatal onset0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0030674HP:0030674Antenatal onset0LMOD1 CL E G H258026647OMIM:619362MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0030674HP:0030674Antenatal onset0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0030674HP:0030674Antenatal onset0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0030674HP:0030674Antenatal onset0MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0030674HP:0030674Antenatal onset0MDFIC CL E G H2996928870OMIM:620014
HP:0030674HP:0030674Antenatal onset0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0030674HP:0030674Antenatal onset0MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0030674HP:0030674Antenatal onset0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0030674HP:0030674Antenatal onset0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0030674HP:0030674Antenatal onset0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0030674HP:0030674Antenatal onset0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0030674HP:0030674Antenatal onset0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0030674HP:0030674Antenatal onset0MNS1 CL E G H5532929636OMIM:618948HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0030674HP:0030674Antenatal onset0MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 5.25
HP:0030674HP:0030674Antenatal onset0MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0030674HP:0030674Antenatal onset0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0030674HP:0030674Antenatal onset0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0030674HP:0030674Antenatal onset0NDUFB7 CL E G H47137702OMIM:620135
HP:0030674HP:0030674Antenatal onset0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0030674HP:0030674Antenatal onset0NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 243
HP:0030674HP:0030674Antenatal onset0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0030674HP:0030674Antenatal onset0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0030674HP:0030674Antenatal onset0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0030674HP:0030674Antenatal onset0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0030674HP:0030674Antenatal onset0NUP155 CL E G H96318063OMIM:615770Atrial fibrillation, familial, 151
HP:0030674HP:0030674Antenatal onset0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0030674HP:0030674Antenatal onset0P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII43
HP:0030674HP:0030674Antenatal onset0PAICS CL E G H106068587OMIM:619859
HP:0030674HP:0030674Antenatal onset0PDX1 CL E G H36516107OMIM:260370Pancreatic agenesis, congenital30
HP:0030674HP:0030674Antenatal onset0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0030674HP:0030674Antenatal onset0PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis11
HP:0030674HP:0030674Antenatal onset0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0030674HP:0030674Antenatal onset0PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0030674HP:0030674Antenatal onset0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver disease563
HP:0030674HP:0030674Antenatal onset0PLCH1 CL E G H2300729185OMIM:619895
HP:0030674HP:0030674Antenatal onset0PLEC CL E G H53399069OMIM:612138Epidermolysis bullosa simplex with pyloric atresia759
HP:0030674HP:0030674Antenatal onset0PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included11
HP:0030674HP:0030674Antenatal onset0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0030674HP:0030674Antenatal onset0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0030674HP:0030674Antenatal onset0PRIM1 CL E G H55579369OMIM:620005
HP:0030674HP:0030674Antenatal onset0PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex4
HP:0030674HP:0030674Antenatal onset0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0030674HP:0030674Antenatal onset0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0030674HP:0030674Antenatal onset0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0030674HP:0030674Antenatal onset0PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0030674HP:0030674Antenatal onset0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0030674HP:0030674Antenatal onset0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0030674HP:0030674Antenatal onset0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0030674HP:0030674Antenatal onset0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0030674HP:0030674Antenatal onset0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0030674HP:0030674Antenatal onset0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0030674HP:0030674Antenatal onset0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0030674HP:0030674Antenatal onset0RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0030674HP:0030674Antenatal onset0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0030674HP:0030674Antenatal onset0SCN5A CL E G H633110593OMIM:603830Long QT syndrome 31134
HP:0030674HP:0030674Antenatal onset0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0030674HP:0030674Antenatal onset0SDHA CL E G H638910680OMIM:613642Cardiomyopathy, dilated, 1gg304
HP:0030674HP:0030674Antenatal onset0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0030674HP:0030674Antenatal onset0SHQ1 CL E G H5516425543OMIM:619922
HP:0030674HP:0030674Antenatal onset0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0030674HP:0030674Antenatal onset0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2
HP:0030674HP:0030674Antenatal onset0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal75
HP:0030674HP:0030674Antenatal onset0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0030674HP:0030674Antenatal onset0SLC35A3 CL E G H2344311023OMIM:615553Arthrogryposis, mental retardation, and seizures2
HP:0030674HP:0030674Antenatal onset0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0030674HP:0030674Antenatal onset0SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 182
HP:0030674HP:0030674Antenatal onset0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0030674HP:0030674Antenatal onset0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0030674HP:0030674Antenatal onset0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0030674HP:0030674Antenatal onset0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0030674HP:0030674Antenatal onset0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome7
HP:0030674HP:0030674Antenatal onset0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0030674HP:0030674Antenatal onset0STT3B CL E G H20159530611OMIM:615597Congenital disorder of glycosylation, type Ix18
HP:0030674HP:0030674Antenatal onset0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type1129
HP:0030674HP:0030674Antenatal onset0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0030674HP:0030674Antenatal onset0TAF2 CL E G H687311536OMIM:615599Mental retardation, autosomal recessive 407
HP:0030674HP:0030674Antenatal onset0TBX18 CL E G H909611595OMIM:143400Congenital anomalies of kidney and urinary tract 25
HP:0030674HP:0030674Antenatal onset0TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0030674HP:0030674Antenatal onset0TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 245
HP:0030674HP:0030674Antenatal onset0TMEM218 CL E G H21985427344OMIM:619562JOUBERT SYNDROME 39; JBTS39
HP:0030674HP:0030674Antenatal onset0TMEM38B CL E G H5515125535OMIM:615066OSTEOGENESIS IMPERFECTA, TYPE XIV; OI144
HP:0030674HP:0030674Antenatal onset0TNFRSF11A CL E G H879211908OMIM:602080Paget disease of bone 2, early-onset72
HP:0030674HP:0030674Antenatal onset0TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D248
HP:0030674HP:0030674Antenatal onset0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0030674HP:0030674Antenatal onset0TOP3A CL E G H715611992OMIM:618097Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0030674HP:0030674Antenatal onset0TPM1 CL E G H716812010OMIM:611878Cardiomyopathy, dilated, 1Y230
HP:0030674HP:0030674Antenatal onset0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 92
HP:0030674HP:0030674Antenatal onset0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0030674HP:0030674Antenatal onset0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0030674HP:0030674Antenatal onset0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0030674HP:0030674Antenatal onset0USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 22
HP:0030674HP:0030674Antenatal onset0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0030674HP:0030674Antenatal onset0WDR19 CL E G H5772818340OMIM:614377Nephronophthisis 1395
HP:0030674HP:0030674Antenatal onset0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0030674HP:0030674Antenatal onset0WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1
HP:0030674HP:0030674Antenatal onset0WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive12
HP:0030674HP:0030674Antenatal onset0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0030674HP:0030674Antenatal onset0ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0030674HP:0030674Antenatal onset0ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0030674HP:0030674Antenatal onset0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0030674HP:0030674Antenatal onset0ZNF526 CL E G H11611529415OMIM:61987724
HP:0030674HP:0011460Embryonal onset1 CL E G H
HP:0030674HP:0011461Fetal onset1ACTG2 CL E G H72145OMIM:619431MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS523
HP:0030674HP:0011461Fetal onset1ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0030674HP:0011461Fetal onset1ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 2789
HP:0030674HP:0011461Fetal onset1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0030674HP:0011461Fetal onset1ATP1A2 CL E G H477800OMIM:619602FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD239
HP:0030674HP:0011461Fetal onset1B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0030674HP:0011461Fetal onset1B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 1034
HP:0030674HP:0011461Fetal onset1BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0030674HP:0011461Fetal onset1CALM2 CL E G H8051445OMIM:616249Long QT syndrome 1513
HP:0030674HP:0011461Fetal onset1CC2D2A CL E G H5754529253OMIM:612284Meckel syndrome, type 6247
HP:0030674HP:0011461Fetal onset1CCDC134 CL E G H7987926185OMIM:619795OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0030674HP:0011461Fetal onset1CDC42BPB CL E G H95781738OMIM:619841
HP:0030674HP:0011461Fetal onset1CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive20
HP:0030674HP:0011461Fetal onset1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0030674HP:0011461Fetal onset1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0030674HP:0011461Fetal onset1CHUK CL E G H11471974OMIM:613630Fetal encasement syndrome3
HP:0030674HP:0011461Fetal onset1CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0030674HP:0011461Fetal onset1COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0030674HP:0011461Fetal onset1COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0030674HP:0011461Fetal onset1CPSF3 CL E G H516922326OMIM:619876
HP:0030674HP:0011461Fetal onset1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0030674HP:0011461Fetal onset1CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0030674HP:0011461Fetal onset1DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0030674HP:0011461Fetal onset1DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030674HP:0011461Fetal onset1DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0030674HP:0011461Fetal onset1DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0030674HP:0011461Fetal onset1ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 383
HP:0030674HP:0011461Fetal onset1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0030674HP:0011461Fetal onset1EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0030674HP:0011461Fetal onset1EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0030674HP:0011461Fetal onset1EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0030674HP:0011461Fetal onset1FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0030674HP:0011461Fetal onset1FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0030674HP:0011461Fetal onset1FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0030674HP:0011461Fetal onset1FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0030674HP:0011461Fetal onset1FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0030674HP:0011461Fetal onset1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0030674HP:0011461Fetal onset1GFRA1 CL E G H26744243OMIM:6198871
HP:0030674HP:0011461Fetal onset1GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55
HP:0030674HP:0011461Fetal onset1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0030674HP:0011461Fetal onset1GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0030674HP:0011461Fetal onset1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0030674HP:0011461Fetal onset1IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0030674HP:0011461Fetal onset1IL6ST CL E G H35726021OMIM:619751STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0030674HP:0011461Fetal onset1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0030674HP:0011461Fetal onset1KDELR2 CL E G H110146305OMIM:619131OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0030674HP:0011461Fetal onset1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0030674HP:0011461Fetal onset1KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0030674HP:0011461Fetal onset1KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0030674HP:0011461Fetal onset1KIDINS220 CL E G H5749829508OMIM:619501VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG4
HP:0030674HP:0011461Fetal onset1KIF20A CL E G H101129787OMIM:619433CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0030674HP:0011461Fetal onset1KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0030674HP:0011461Fetal onset1KIF7 CL E G H37465430497OMIM:614120Hydrolethalus syndrome 2167
HP:0030674HP:0011461Fetal onset1KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV42
HP:0030674HP:0011461Fetal onset1KMT2B CL E G H975715840OMIM:61993411
HP:0030674HP:0011461Fetal onset1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0030674HP:0011461Fetal onset1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0030674HP:0011461Fetal onset1LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect6
HP:0030674HP:0011461Fetal onset1LMNA CL E G H40006636OMIM:619793RESTRICTIVE DERMOPATHY 2; RSDM2645
HP:0030674HP:0011461Fetal onset1LMOD1 CL E G H258026647OMIM:619362MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0030674HP:0011461Fetal onset1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0030674HP:0011461Fetal onset1MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0030674HP:0011461Fetal onset1MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0030674HP:0011461Fetal onset1MDFIC CL E G H2996928870OMIM:620014
HP:0030674HP:0011461Fetal onset1MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0030674HP:0011461Fetal onset1MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0030674HP:0011461Fetal onset1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0030674HP:0011461Fetal onset1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0030674HP:0011461Fetal onset1MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0030674HP:0011461Fetal onset1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0030674HP:0011461Fetal onset1MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0030674HP:0011461Fetal onset1MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0030674HP:0011461Fetal onset1NDUFB7 CL E G H47137702OMIM:620135
HP:0030674HP:0011461Fetal onset1NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 243
HP:0030674HP:0011461Fetal onset1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0030674HP:0011461Fetal onset1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0030674HP:0011461Fetal onset1NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0030674HP:0011461Fetal onset1NUP155 CL E G H96318063OMIM:615770Atrial fibrillation, familial, 151
HP:0030674HP:0011461Fetal onset1OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0030674HP:0011461Fetal onset1P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII43
HP:0030674HP:0011461Fetal onset1PAICS CL E G H106068587OMIM:619859
HP:0030674HP:0011461Fetal onset1PDX1 CL E G H36516107OMIM:260370Pancreatic agenesis, congenital30
HP:0030674HP:0011461Fetal onset1PI4KA CL E G H52978983OMIM:616531Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis11
HP:0030674HP:0011461Fetal onset1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0030674HP:0011461Fetal onset1PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 537
HP:0030674HP:0011461Fetal onset1PLCH1 CL E G H2300729185OMIM:619895
HP:0030674HP:0011461Fetal onset1PLEC CL E G H53399069OMIM:612138Epidermolysis bullosa simplex with pyloric atresia759
HP:0030674HP:0011461Fetal onset1PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included11
HP:0030674HP:0011461Fetal onset1PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0030674HP:0011461Fetal onset1PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0030674HP:0011461Fetal onset1PRIM1 CL E G H55579369OMIM:620005
HP:0030674HP:0011461Fetal onset1PRRX1 CL E G H53969142OMIM:202650Agnathia-Otocephaly complex4
HP:0030674HP:0011461Fetal onset1PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0030674HP:0011461Fetal onset1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0030674HP:0011461Fetal onset1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0030674HP:0011461Fetal onset1PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0030674HP:0011461Fetal onset1RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0030674HP:0011461Fetal onset1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0030674HP:0011461Fetal onset1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0030674HP:0011461Fetal onset1RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0030674HP:0011461Fetal onset1RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0030674HP:0011461Fetal onset1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0030674HP:0011461Fetal onset1RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0030674HP:0011461Fetal onset1SCN5A CL E G H633110593OMIM:603830Long QT syndrome 31134
HP:0030674HP:0011461Fetal onset1SDHA CL E G H638910680OMIM:613642Cardiomyopathy, dilated, 1gg304
HP:0030674HP:0011461Fetal onset1SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0030674HP:0011461Fetal onset1SHQ1 CL E G H5516425543OMIM:619922
HP:0030674HP:0011461Fetal onset1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0030674HP:0011461Fetal onset1SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2
HP:0030674HP:0011461Fetal onset1SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal75
HP:0030674HP:0011461Fetal onset1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0030674HP:0011461Fetal onset1SLC35A3 CL E G H2344311023OMIM:615553Arthrogryposis, mental retardation, and seizures2
HP:0030674HP:0011461Fetal onset1SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0030674HP:0011461Fetal onset1SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 182
HP:0030674HP:0011461Fetal onset1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0030674HP:0011461Fetal onset1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0030674HP:0011461Fetal onset1SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0030674HP:0011461Fetal onset1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0030674HP:0011461Fetal onset1SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome7
HP:0030674HP:0011461Fetal onset1STT3B CL E G H20159530611OMIM:615597Congenital disorder of glycosylation, type Ix18
HP:0030674HP:0011461Fetal onset1SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type1129
HP:0030674HP:0011461Fetal onset1SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0030674HP:0011461Fetal onset1TAF2 CL E G H687311536OMIM:615599Mental retardation, autosomal recessive 407
HP:0030674HP:0011461Fetal onset1TBX18 CL E G H909611595OMIM:143400Congenital anomalies of kidney and urinary tract 25
HP:0030674HP:0011461Fetal onset1TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0030674HP:0011461Fetal onset1TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 245
HP:0030674HP:0011461Fetal onset1TNFRSF11A CL E G H879211908OMIM:602080Paget disease of bone 2, early-onset72
HP:0030674HP:0011461Fetal onset1TNNT2 CL E G H713911949OMIM:601494Cardiomyopathy, dilated, 1D248
HP:0030674HP:0011461Fetal onset1TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0030674HP:0011461Fetal onset1TPM1 CL E G H716812010OMIM:611878Cardiomyopathy, dilated, 1Y230
HP:0030674HP:0011461Fetal onset1TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 92
HP:0030674HP:0011461Fetal onset1TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0030674HP:0011461Fetal onset1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0030674HP:0011461Fetal onset1TXNDC15 CL E G H7977020652OMIM:6198792
HP:0030674HP:0011461Fetal onset1USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 22
HP:0030674HP:0011461Fetal onset1VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0030674HP:0011461Fetal onset1WDR19 CL E G H5772818340OMIM:614377Nephronophthisis 1395
HP:0030674HP:0011461Fetal onset1WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0030674HP:0011461Fetal onset1WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive12
HP:0030674HP:0011461Fetal onset1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0030674HP:0011461Fetal onset1ZIC2 CL E G H754612873OMIM:609637Holoprosencephaly 534
HP:0030674HP:0011461Fetal onset1ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0030674HP:0011461Fetal onset1ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0030674HP:0011461Fetal onset1ZNF526 CL E G H11611529415OMIM:61987724
HP:0030674HP:0034198Second trimester onset2ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 2789
HP:0030674HP:0034197Third trimester onset2ALPK3 CL E G H5753817574OMIM:618052Cardiomyopathy, familial hypertrophic 2789
HP:0030674HP:0034198Second trimester onset2B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0030674HP:0034199Late first trimester onset2BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0030674HP:0034198Second trimester onset2BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0030674HP:0034198Second trimester onset2COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0030674HP:0034198Second trimester onset2CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0030674HP:0034198Second trimester onset2ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 383
HP:0030674HP:0034197Third trimester onset2FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0030674HP:0034198Second trimester onset2GFRA1 CL E G H26744243OMIM:6198871
HP:0030674HP:0034197Third trimester onset2GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55
HP:0030674HP:0034197Third trimester onset2KMT2B CL E G H975715840OMIM:61993411
HP:0030674HP:0034198Second trimester onset2MDFIC CL E G H2996928870OMIM:620014
HP:0030674HP:0034197Third trimester onset2MDFIC CL E G H2996928870OMIM:620014
HP:0030674HP:0034198Second trimester onset2MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0030674HP:0034198Second trimester onset2MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0030674HP:0034198Second trimester onset2NDUFB7 CL E G H47137702OMIM:620135
HP:0030674HP:0034198Second trimester onset2NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 243
HP:0030674HP:0034197Third trimester onset2NUP155 CL E G H96318063OMIM:615770Atrial fibrillation, familial, 151
HP:0030674HP:0034197Third trimester onset2PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included11
HP:0030674HP:0034197Third trimester onset2PYCR1 CL E G H58319721OMIM:612940Cutis laxa, autosomal recessive, type IIB53
HP:0030674HP:0034198Second trimester onset2RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0030674HP:0034198Second trimester onset2SCN5A CL E G H633110593OMIM:603830Long QT syndrome 31134
HP:0030674HP:0034197Third trimester onset2SDHA CL E G H638910680OMIM:613642Cardiomyopathy, dilated, 1gg304
HP:0030674HP:0034197Third trimester onset2SHQ1 CL E G H5516425543OMIM:619922
HP:0030674HP:0034198Second trimester onset2SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0030674HP:0034197Third trimester onset2SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 182
HP:0030674HP:0034198Second trimester onset2TCTN3 CL E G H2612324519OMIM:614815Joubert syndrome 1831
HP:0030674HP:0034197Third trimester onset2TNFRSF11A CL E G H879211908OMIM:602080Paget disease of bone 2, early-onset72
HP:0030674HP:0034198Second trimester onset2TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0030674HP:0034198Second trimester onset2TXNDC15 CL E G H7977020652OMIM:6198792
HP:0030674HP:0034199Late first trimester onset2TXNDC15 CL E G H7977020652OMIM:6198792
HP:0030674HP:0034197Third trimester onset2ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0030674HP:0034197Third trimester onset2ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83


Genes (167) :ACTG2 ALDH1A2 ALG8 ALPK3 ALX4 ATP1A2 B4GAT1 B9D2 BICC1 BMPER BUB1B CALM2 CC2D2A CCDC134 CDC42BPB CENPE CHD7 CHRNG CHUK CILK1 CLPB COL2A1 COX16 CPSF3 CPT2 CREB3L1 CYP26B1 DCC DDRGK1 DEF6 DLL3 DPH5 DYNC2LI1 EIF5A ERCC5 ERCC8 EXOC7 EXOSC9 EZH2 FANCB FARSA FARSB FKBP14 FTO GBA1 GFRA1 GINS1 GLUL GNPTAB GUSB HERC2 IFIH1 IL6ST IPW KDELR2 KDM6A KIAA0753 KIDINS220 KIF20A KIF5C KIF7 KLF1 KMT2B KMT2D LBR LGI4 LMNA LMNB1 LMOD1 MAGEL2 MAP3K7 MCM10 MDFIC MEGF10 MESP2 MINPP1 MKRN3 MKRN3-AS1 MKS1 MNS1 MRPS22 MYH11 MYRF NAA20 NDUFB7 NDUFC2 NEK8 NEK9 NPAP1 NSD1 NSD2 NUP155 OBSL1 P3H1 PAICS PDX1 PI4KA PIGA PIGG PKHD1 PLCH1 PLEC PLG PLOD3 PPP1CB PRIM1 PRRX1 PSMD12 PWAR1 PWRN1 PYCR1 RAC1 RAD21 RIPK4 RMRP RNF2 RNU4ATAC RPL10 RSPO2 RYR1 SCN5A SCUBE3 SDHA SDHD SHQ1 SIN3A SKIC2 SLC12A1 SLC30A9 SLC35A3 SLC35D1 SNAP25 SNORD115-1 SNORD116-1 SOS1 SOX10 SOX18 SOX9 STT3B SYNE1 SYT2 TAF2 TBX18 TCTN3 TMEM216 TMEM218 TMEM38B TNFRSF11A TNNT2 TOGARAM1 TOP3A TPM1 TRAIP TRIP11 TWIST2 TXNDC15 USP18 VRK1 WDR19 WDR4 WDR45B WNT3 XYLT1 ZIC2 ZIC3 ZMPSTE24 ZNF526

Diseases (158) :OMIM:619431 OMIM:620025 OMIM:608104 OMIM:618052 OMIM:613451 OMIM:619602 OMIM:615287 OMIM:614175 OMIM:601331 OMIM:608022 OMIM:257300 OMIM:616249 OMIM:612284 OMIM:619795 OMIM:619841 OMIM:616051 OMIM:214800 OMIM:265000 OMIM:613630 OMIM:612651 OMIM:616271 OMIM:200610 OMIM:619355 OMIM:619876 OMIM:608836 OMIM:616229 OMIM:614416 OMIM:617542 OMIM:602557 OMIM:619573 OMIM:277300 OMIM:620070 OMIM:617088 OMIM:619376 OMIM:616570 OMIM:216400 OMIM:619072 OMIM:618065 OMIM:277590 OMIM:314390 OMIM:619013 OMIM:613658 OMIM:614557 OMIM:612938 OMIM:608013 OMIM:619887 OMIM:617827 OMIM:610015 OMIM:252500 OMIM:253220 OMIM:176270 OMIM:615846 OMIM:619751 OMIM:619131 OMIM:147920 OMIM:619479 OMIM:617296 OMIM:619501 OMIM:619433 OMIM:615282 OMIM:614120 OMIM:613673 OMIM:619934 OMIM:215140 OMIM:617468 OMIM:619793 OMIM:619179 OMIM:619362 OMIM:157800 OMIM:619313 OMIM:620014 OMIM:614399 OMIM:619527 OMIM:617121 OMIM:249000 OMIM:618948 OMIM:611719 OMIM:619351 OMIM:618280 OMIM:619717 OMIM:620135 OMIM:619170 OMIM:615415 OMIM:617022 OMIM:117550 OMIM:619695 OMIM:615770 OMIM:612921 OMIM:610915 OMIM:619859 OMIM:260370 OMIM:619708 OMIM:616531 OMIM:300868 OMIM:616917 OMIM:263200 OMIM:619895 OMIM:612138 OMIM:217090 OMIM:612394 OMIM:617506 OMIM:620005 OMIM:202650 OMIM:617516 OMIM:612940 OMIM:617751 OMIM:614701 OMIM:263650 OMIM:607095 OMIM:619460 OMIM:210710 OMIM:300998 OMIM:618022 OMIM:619542 OMIM:603830 OMIM:619184 OMIM:613642 OMIM:619167 OMIM:619922 OMIM:613406 OMIM:614602 OMIM:601678 OMIM:617595 OMIM:615553 OMIM:269250 OMIM:616330 OMIM:610733 OMIM:609136 OMIM:137940 OMIM:114290 OMIM:615597 OMIM:618484 OMIM:619461 OMIM:615599 OMIM:143400 OMIM:614815 OMIM:603194 OMIM:619562 OMIM:615066 OMIM:602080 OMIM:601494 OMIM:619185 OMIM:618097 OMIM:611878 OMIM:616777 OMIM:200600 OMIM:200110 OMIM:619879 OMIM:617397 OMIM:607596 OMIM:614377 OMIM:618347 OMIM:617977 OMIM:273395 OMIM:615777 OMIM:609637 OMIM:275210 OMIM:619877
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.