Human Phenotype Ontology 
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Mortality/Aging (HP:0040006)help
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Age of death (HP:0011420)help
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Death in childhood (HP:0003819)help
Term ID: 3819
Name: Death in childhood
Synonym: Death in childhood
Definition: Death in during childhood, defined here as between the ages of 2 and 10 years.
Comments:
Reference: HP:0003819
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDeath in adolescence (HP:0011421) help
..expandDeath in early adulthood (HP:0100613) help
..expandDeath in infancy (HP:0001522) help
..expandNeonatal death (HP:0003811) 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:0003819HP:0003819Death in childhood0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0003819HP:0003819Death in childhood0ABAT CL E G H1823OMIM:613163GABA-transaminase deficiency.120
HP:0003819HP:0003819Death in childhood0ABCB11 CL E G H864742OMIM:601847Cholestasis, progressive familial intrahepatic 2.146
HP:0003819HP:0003819Death in childhood0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0003819HP:0003819Death in childhood0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0003819HP:0003819Death in childhood0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0003819HP:0003819Death in childhood0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1
HP:0003819HP:0003819Death in childhood0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0003819HP:0003819Death in childhood0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0003819HP:0003819Death in childhood0ATP5MK CL E G H8483330889OMIM:618683MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0003819HP:0003819Death in childhood0ATP7A CL E G H538869OMIM:309400Menkes disease.192
HP:0003819HP:0003819Death in childhood0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0003819HP:0003819Death in childhood0C18ORF32 CL E G H49766131690OMIM:619985
HP:0003819HP:0003819Death in childhood0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0003819HP:0003819Death in childhood0CD3G CL E G H9171675OMIM:615607Immunodeficiency 1719
HP:0003819HP:0003819Death in childhood0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0003819HP:0003819Death in childhood0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0003819HP:0003819Death in childhood0DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiency89
HP:0003819HP:0003819Death in childhood0DTYMK CL E G H18413061OMIM:619847
HP:0003819HP:0003819Death in childhood0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 21
HP:0003819HP:0003819Death in childhood0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 420
HP:0003819HP:0003819Death in childhood0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0003819HP:0003819Death in childhood0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0003819HP:0003819Death in childhood0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0003819HP:0003819Death in childhood0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0003819HP:0003819Death in childhood0FADD CL E G H87723573OMIM:613759INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS3
HP:0003819HP:0003819Death in childhood0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 1436
HP:0003819HP:0003819Death in childhood0FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0003819HP:0003819Death in childhood0FGA CL E G H22433661OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included47
HP:0003819HP:0003819Death in childhood0FGB CL E G H22443662OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included62
HP:0003819HP:0003819Death in childhood0FGG CL E G H22663694OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included34
HP:0003819HP:0003819Death in childhood0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0003819HP:0003819Death in childhood0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0003819HP:0003819Death in childhood0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0003819HP:0003819Death in childhood0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0003819HP:0003819Death in childhood0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0003819HP:0003819Death in childhood0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0003819HP:0003819Death in childhood0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0003819HP:0003819Death in childhood0JPH2 CL E G H5715814202OMIM:619492CARDIOMYOPATHY, DILATED, 2E; CMD2E111
HP:0003819HP:0003819Death in childhood0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0003819HP:0003819Death in childhood0KRT5 CL E G H38526442OMIM:619599EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D173
HP:0003819HP:0003819Death in childhood0LAMA3 CL E G H39096483OMIM:619784EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B116
HP:0003819HP:0003819Death in childhood0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0003819HP:0003819Death in childhood0LAT CL E G H2704018874OMIM:617514Immunodeficiency 522
HP:0003819HP:0003819Death in childhood0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0003819HP:0003819Death in childhood0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0003819HP:0003819Death in childhood0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0003819HP:0003819Death in childhood0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 217
HP:0003819HP:0003819Death in childhood0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive5
HP:0003819HP:0003819Death in childhood0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib51
HP:0003819HP:0003819Death in childhood0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0003819HP:0003819Death in childhood0MRPL3 CL E G H1122210379OMIM:614582COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD913
HP:0003819HP:0003819Death in childhood0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003819HP:0003819Death in childhood0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0003819HP:0003819Death in childhood0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0003819HP:0003819Death in childhood0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 474
HP:0003819HP:0003819Death in childhood0NEB CL E G H47037720OMIM:619334ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6745
HP:0003819HP:0003819Death in childhood0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0003819HP:0003819Death in childhood0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0003819HP:0003819Death in childhood0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C233
HP:0003819HP:0003819Death in childhood0OAS1 CL E G H49388086OMIM:618042Pulmonary alveolar proteinosis with hypogammaglobulinemia2
HP:0003819HP:0003819Death in childhood0OGDH CL E G H49678124OMIM:203740Alpha-Ketoglutarate dehydrogenase deficiency.
HP:0003819HP:0003819Death in childhood0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0003819HP:0003819Death in childhood0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0003819HP:0003819Death in childhood0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B82
HP:0003819HP:0003819Death in childhood0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0003819HP:0003819Death in childhood0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0003819HP:0003819Death in childhood0PLCB3 CL E G H53319056OMIM:618961SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0003819HP:0003819Death in childhood0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0003819HP:0003819Death in childhood0PPCS CL E G H7971725686OMIM:618189Cardiomyopathy, dilated, 2C
HP:0003819HP:0003819Death in childhood0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0003819HP:0003819Death in childhood0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0003819HP:0003819Death in childhood0PTPRC CL E G H57889666OMIM:61992425
HP:0003819HP:0003819Death in childhood0RAB27A CL E G H58739766OMIM:607624Griscelli syndrome, type 267
HP:0003819HP:0003819Death in childhood0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0003819HP:0003819Death in childhood0RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0003819HP:0003819Death in childhood0RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 433
HP:0003819HP:0003819Death in childhood0RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0003819HP:0003819Death in childhood0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0003819HP:0003819Death in childhood0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0003819HP:0003819Death in childhood0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0003819HP:0003819Death in childhood0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0003819HP:0003819Death in childhood0SLC25A22 CL E G H7975119954OMIM:609304Epileptic encephalopathy, early infantile, 3.166
HP:0003819HP:0003819Death in childhood0SLC33A1 CL E G H919795OMIM:614482Congenital cataracts, hearing loss, and neurodegeneration48
HP:0003819HP:0003819Death in childhood0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0003819HP:0003819Death in childhood0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I22
HP:0003819HP:0003819Death in childhood0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0003819HP:0003819Death in childhood0STT3B CL E G H20159530611OMIM:615597Congenital disorder of glycosylation, type Ix.18
HP:0003819HP:0003819Death in childhood0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0003819HP:0003819Death in childhood0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency73
HP:0003819HP:0003819Death in childhood0TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0003819HP:0003819Death in childhood0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0003819HP:0003819Death in childhood0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 263
HP:0003819HP:0003819Death in childhood0TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0003819HP:0003819Death in childhood0TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0003819HP:0003819Death in childhood0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency
HP:0003819HP:0003819Death in childhood0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency
HP:0003819HP:0003819Death in childhood0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B84
HP:0003819HP:0003819Death in childhood0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2AHP:0040283 - Occasional102
HP:0003819HP:0003819Death in childhood0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0003819HP:0003819Death in childhood0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0003819HP:0003819Death in childhood0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0003819HP:0003819Death in childhood0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0003819HP:0003819Death in childhood0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0003819HP:0003819Death in childhood0WT1 CL E G H749012796OMIM:608978MEACHAM SYNDROME177
HP:0003819HP:0003819Death in childhood0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91


Genes (104) :AARS2 ABAT ABCB11 ACAD9 ACTL6B ADCY5 AP1S1 ATG7 ATP1A2 ATP5MK ATP7A ATPAF2 C18ORF32 C2ORF69 CD3G CLCN3 COX5A DLD DTYMK EFL1 ERCC1 ERCC2 ERCC6 EXOSC8 FADD FARS2 FCHO1 FGA FGB FGG FKRP FTO GAD1 GFAP GNPTAB HEXB HMGCL JPH2 KARS1 KRT5 LAMA3 LAMB2 LAT LYRM7 MADD MFF MFSD2A MPI MRM2 MRPL3 MTX2 NAXD NAXE NDUFV1 NEB NFIX NHLRC2 NPC2 OAS1 OGDH PET100 PEX1 PEX2 PEX5 PIGY PLCB3 PMM2 PPCS PQBP1 PRPS1 PTPRC RAB27A RARS2 RINT1 RNASEH2A RNASEH2C RNU4ATAC SCYL2 SEC31A SLC17A5 SLC25A22 SLC33A1 SMARCD2 SMN1 SNAP29 STT3B SUCLG1 SURF1 TIMMDC1 TK2 TMEM70 TNFRSF11A TPP2 TRNN TRNS1 TSEN2 TSEN54 TSFM TTC7A UBR1 VPS33A VPS50 WT1 ZNFX1

Diseases (102) :OMIM:614096 OMIM:613163 OMIM:601847 OMIM:611126 OMIM:618468 OMIM:619651 OMIM:609313 OMIM:619422 OMIM:619605 OMIM:618683 OMIM:309400 OMIM:604273 OMIM:619985 OMIM:619423 OMIM:615607 OMIM:619517 OMIM:619064 OMIM:246900 OMIM:619847 OMIM:617941 OMIM:610758 OMIM:610756 OMIM:214150 OMIM:133540 OMIM:616081 OMIM:613759 OMIM:614946 OMIM:619164 OMIM:202400 OMIM:613153 OMIM:612938 OMIM:619124 OMIM:203450 OMIM:252500 OMIM:268800 OMIM:246450 OMIM:619492 OMIM:619147 OMIM:619599 OMIM:619784 OMIM:609049 OMIM:617514 OMIM:615838 OMIM:619004 OMIM:619005 OMIM:617086 OMIM:616486 OMIM:602579 OMIM:618567 OMIM:614582 OMIM:619127 OMIM:618321 OMIM:617186 OMIM:618225 OMIM:619334 OMIM:602535 OMIM:618278 OMIM:607625 OMIM:618042 OMIM:203740 OMIM:619055 OMIM:214100 OMIM:614867 OMIM:214110 OMIM:616809 OMIM:618961 OMIM:212065 OMIM:618189 OMIM:309500 OMIM:300661 OMIM:619924 OMIM:607624 OMIM:611523 OMIM:618641 OMIM:610333 OMIM:610329 OMIM:210710 OMIM:618766 OMIM:618651 OMIM:269920 OMIM:609304 OMIM:614482 OMIM:617475 OMIM:253300 OMIM:609528 OMIM:615597 OMIM:245400 OMIM:220110 OMIM:618251 OMIM:609560 OMIM:614052 OMIM:612301 OMIM:619220 OMIM:612389 OMIM:277470 OMIM:610505 OMIM:243150 OMIM:243800 OMIM:617303 OMIM:619685 OMIM:608978 OMIM:619644
 

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