Human Phenotype Ontology 
Grandparent Node:
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Mortality/Aging (HP:0040006)help
Parent Node:
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Age of death (HP:0011420)help
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Neonatal death (HP:0003811)help
Term ID: 3811
Name: Neonatal death
Synonym: Neonatal lethal
Definition: Death within the first 28 days of life.
Comments:
Reference: HP:0003811
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDeath in adolescence (HP:0011421) help
..expandDeath in childhood (HP:0003819) help
..expandDeath in early adulthood (HP:0100613) help
..expandDeath in infancy (HP:0001522) help
..expandStillbirth (HP:0003826) help
..expandSudden death (HP:0001699) 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:0003811HP:0003811Neonatal death0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0003811HP:0003811Neonatal death0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3147
HP:0003811HP:0003811Neonatal death0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0003811HP:0003811Neonatal death0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1
HP:0003811HP:0003811Neonatal death0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0003811HP:0003811Neonatal death0ATP1A2 CL E G H477800OMIM:619602FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD239
HP:0003811HP:0003811Neonatal death0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0003811HP:0003811Neonatal death0CDK5 CL E G H10201774OMIM:616342Lissencephaly 7 with cerebellar hypoplasia3
HP:0003811HP:0003811Neonatal death0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0003811HP:0003811Neonatal death0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10159
HP:0003811HP:0003811Neonatal death0DSP CL E G H18323052OMIM:609638EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA747
HP:0003811HP:0003811Neonatal death0EDNRB CL E G H19103180OMIM:600501Abcd syndrome55
HP:0003811HP:0003811Neonatal death0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0003811HP:0003811Neonatal death0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0003811HP:0003811Neonatal death0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0003811HP:0003811Neonatal death0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0003811HP:0003811Neonatal death0FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0003811HP:0003811Neonatal death0FGA CL E G H22433661OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included47
HP:0003811HP:0003811Neonatal death0FGB CL E G H22443662OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included62
HP:0003811HP:0003811Neonatal death0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0003811HP:0003811Neonatal death0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0003811HP:0003811Neonatal death0FGG CL E G H22663694OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included34
HP:0003811HP:0003811Neonatal death0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0003811HP:0003811Neonatal death0FLNB CL E G H23173755OMIM:112310Boomerang dysplasia.233
HP:0003811HP:0003811Neonatal death0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0003811HP:0003811Neonatal death0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0003811HP:0003811Neonatal death0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0003811HP:0003811Neonatal death0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040281 - Very frequent
HP:0003811HP:0003811Neonatal death0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0003811HP:0003811Neonatal death0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0003811HP:0003811Neonatal death0GLE1 CL E G H27334315OMIM:253310Lethal congenital contracture syndrome 1.45
HP:0003811HP:0003811Neonatal death0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0003811HP:0003811Neonatal death0GLUL CL E G H27524341OMIM:610015GLUTAMINE DEFICIENCY, CONGENITAL98
HP:0003811HP:0003811Neonatal death0GPHN CL E G H1024315465OMIM:615501Molybdenum cofactor deficiency, complementation group C18
HP:0003811HP:0003811Neonatal death0HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type.345
HP:0003811HP:0003811Neonatal death0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0003811HP:0003811Neonatal death0IL6ST CL E G H35726021OMIM:619751STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0003811HP:0003811Neonatal death0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003811HP:0003811Neonatal death0ITGA6 CL E G H36556142OMIM:619817EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB679
HP:0003811HP:0003811Neonatal death0JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts4
HP:0003811HP:0003811Neonatal death0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0003811HP:0003811Neonatal death0LMOD1 CL E G H258026647OMIM:619362MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0003811HP:0003811Neonatal death0LMOD2 CL E G H4427216648OMIM:619897
HP:0003811HP:0003811Neonatal death0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040282 - Frequent22
HP:0003811HP:0003811Neonatal death0MDFIC CL E G H2996928870OMIM:620014
HP:0003811HP:0003811Neonatal death0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B26
HP:0003811HP:0003811Neonatal death0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 260
HP:0003811HP:0003811Neonatal death0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 1550
HP:0003811HP:0003811Neonatal death0NDUFB10 CL E G H47167696OMIM:619003MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0003811HP:0003811Neonatal death0NDUFB11 CL E G H5453920372OMIM:301021Mitochondrial complex I deficiency, nuclear type 30.3
HP:0003811HP:0003811Neonatal death0NEB CL E G H47037720OMIM:619334ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6745
HP:0003811HP:0003811Neonatal death0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0003811HP:0003811Neonatal death0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0003811HP:0003811Neonatal death0PAICS CL E G H106068587OMIM:619859
HP:0003811HP:0003811Neonatal death0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0003811HP:0003811Neonatal death0PIP5K1C CL E G H233968996OMIM:611369Lethal congenital contracture syndrome 31
HP:0003811HP:0003811Neonatal death0PKHD1 CL E G H53149016OMIM:263200Polycystic kidney disease 4 with or without polycystic liver diseaseHP:0040283 - Occasional563
HP:0003811HP:0003811Neonatal death0PLEC CL E G H53399069OMIM:612138Epidermolysis bullosa simplex with pyloric atresia759
HP:0003811HP:0003811Neonatal death0PPFIBP1 CL E G H84969249OMIM:620024
HP:0003811HP:0003811Neonatal death0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0003811HP:0003811Neonatal death0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0003811HP:0003811Neonatal death0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0003811HP:0003811Neonatal death0SFTPB CL E G H643910801OMIM:265120Surfactant metabolism dysfunction, pulmonary, 151
HP:0003811HP:0003811Neonatal death0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0003811HP:0003811Neonatal death0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0003811HP:0003811Neonatal death0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0003811HP:0003811Neonatal death0TARS2 CL E G H8022230740OMIM:615918Combined oxidative phosphorylation deficiency 2128
HP:0003811HP:0003811Neonatal death0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0003811HP:0003811Neonatal death0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003811HP:0003811Neonatal death0WT1 CL E G H749012796OMIM:608978MEACHAM SYNDROME177
HP:0003811HP:0003811Neonatal death0ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0003811HP:0003811Neonatal death0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83


Genes (68) :AARS2 ABCA3 ALG8 AP1S1 ATAD3A ATP1A2 BCS1L CDK5 CEP55 CTSD DSP EDNRB ETFA ETFB ETFDH FAM20C FANCB FGA FGB FGFR3 FGG FLNB FOXF1 GAD1 GATC GBA1 GLE1 GLI3 GLUL GPHN HSPG2 HTRA2 IL6ST INTU ITGA6 JAM3 LBR LMOD1 LMOD2 MBTPS2 MDFIC MOCS2 MRPS16 NDUFAF4 NDUFB10 NDUFB11 NEB NFU1 NPHP3 PAICS PET100 PIP5K1C PKHD1 PLEC PPFIBP1 QRSL1 RAD51C SDHD SFTPB SLC25A24 SLC25A4 SUCLG1 TARS2 TMEM70 TTC26 WT1 ZIC3 ZMPSTE24

Diseases (67) :OMIM:614096 OMIM:610921 OMIM:608104 OMIM:609313 OMIM:618810 OMIM:619602 OMIM:124000 OMIM:616342 OMIM:236500 OMIM:610127 OMIM:609638 OMIM:600501 OMIM:231680 OMIM:259775 OMIM:314390 OMIM:202400 OMIM:187600 OMIM:187601 OMIM:108720 OMIM:112310 OMIM:265380 OMIM:619124 OMIM:618839 ORPHA:85212 OMIM:608013 OMIM:611890 OMIM:253310 OMIM:146510 OMIM:610015 OMIM:615501 OMIM:224410 OMIM:617248 OMIM:619751 OMIM:617925 OMIM:619817 OMIM:613730 OMIM:215140 OMIM:619362 OMIM:619897 ORPHA:85284 OMIM:620014 OMIM:252160 OMIM:610498 OMIM:618237 OMIM:619003 OMIM:301021 OMIM:619334 OMIM:605711 OMIM:208540 OMIM:619859 OMIM:619055 OMIM:611369 OMIM:263200 OMIM:612138 OMIM:620024 OMIM:618835 OMIM:613390 OMIM:619167 OMIM:265120 OMIM:612289 OMIM:617184 OMIM:245400 OMIM:615918 OMIM:614052 OMIM:619534 OMIM:608978 OMIM:275210
 

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