Human Phenotype Ontology 
Grandparent Node:
expand
Mortality/Aging (HP:0040006)help
Parent Node:
expand
Age of death (HP:0011420)help
..Starting node
..expand
Death in infancy (HP:0001522)help
Term ID: 1522
Name: Death in infancy
Synonym: Death in early childhood; Death in infancy; Infantile death; Lethal in infancy
Definition: Death within the first 24 months of life.
Comments:
Reference: HP:0001522
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
..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:0001522HP:0001522Death in infancy0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8.143
HP:0001522HP:0001522Death in infancy0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3147
HP:0001522HP:0001522Death in infancy0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0001522HP:0001522Death in infancy0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0001522HP:0001522Death in infancy0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040282 - Frequent120
HP:0001522HP:0001522Death in infancy0ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional23
HP:0001522HP:0001522Death in infancy0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0001522HP:0001522Death in infancy0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0001522HP:0001522Death in infancy0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 171
HP:0001522HP:0001522Death in infancy0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0001522HP:0001522Death in infancy0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0001522HP:0001522Death in infancy0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0001522HP:0001522Death in infancy0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0001522HP:0001522Death in infancy0AMT CL E G H275473OMIM:605899Glycine encephalopathy.56
HP:0001522HP:0001522Death in infancy0ANTXR2 CL E G H11842921732ORPHA:2028Juvenile hyaline fibromatosisHP:0040282 - Frequent49
HP:0001522HP:0001522Death in infancy0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1
HP:0001522HP:0001522Death in infancy0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitaliaHP:0040282 - Frequent166
HP:0001522HP:0001522Death in infancy0ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040282 - Frequent15
HP:0001522HP:0001522Death in infancy0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001522HP:0001522Death in infancy0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0001522HP:0001522Death in infancy0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001522HP:0001522Death in infancy0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0001522HP:0001522Death in infancy0BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040283 - Occasional90
HP:0001522HP:0001522Death in infancy0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia.14
HP:0001522HP:0001522Death in infancy0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0001522HP:0001522Death in infancy0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001522HP:0001522Death in infancy0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040282 - Frequent33
HP:0001522HP:0001522Death in infancy0CD3G CL E G H9171675OMIM:615607Immunodeficiency 1719
HP:0001522HP:0001522Death in infancy0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040283 - Occasional83
HP:0001522HP:0001522Death in infancy0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001522HP:0001522Death in infancy0CDK5 CL E G H10201774OMIM:616342Lissencephaly 7 with cerebellar hypoplasia3
HP:0001522HP:0001522Death in infancy0CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional200
HP:0001522HP:0001522Death in infancy0CLCF1 CL E G H2352917412ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent6
HP:0001522HP:0001522Death in infancy0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0001522HP:0001522Death in infancy0COASY CL E G H8034729932OMIM:618266Pontocerebellar hypoplasia, type 12.16
HP:0001522HP:0001522Death in infancy0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001522HP:0001522Death in infancy0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0001522HP:0001522Death in infancy0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001522HP:0001522Death in infancy0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001522HP:0001522Death in infancy0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0001522HP:0001522Death in infancy0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0001522HP:0001522Death in infancy0CRLF1 CL E G H92442364ORPHA:1545Crisponi syndromeHP:0040281 - Very frequent24
HP:0001522HP:0001522Death in infancy0CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII.124
HP:0001522HP:0001522Death in infancy0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1.145
HP:0001522HP:0001522Death in infancy0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001522HP:0001522Death in infancy0DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 1.45
HP:0001522HP:0001522Death in infancy0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0001522HP:0001522Death in infancy0DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5.167
HP:0001522HP:0001522Death in infancy0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im.55
HP:0001522HP:0001522Death in infancy0DPH5 CL E G H5161124270OMIM:620070
HP:0001522HP:0001522Death in infancy0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu.26
HP:0001522HP:0001522Death in infancy0DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0001522HP:0001522Death in infancy0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0001522HP:0001522Death in infancy0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 21
HP:0001522HP:0001522Death in infancy0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040281 - Very frequent2
HP:0001522HP:0001522Death in infancy0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040282 - Frequent170
HP:0001522HP:0001522Death in infancy0EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040281 - Very frequent40
HP:0001522HP:0001522Death in infancy0ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040281 - Very frequent20
HP:0001522HP:0001522Death in infancy0ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040281 - Very frequent106
HP:0001522HP:0001522Death in infancy0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0001522HP:0001522Death in infancy0ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040281 - Very frequent83
HP:0001522HP:0001522Death in infancy0ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040281 - Very frequent199
HP:0001522HP:0001522Death in infancy0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic42
HP:0001522HP:0001522Death in infancy0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities3
HP:0001522HP:0001522Death in infancy0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia8
HP:0001522HP:0001522Death in infancy0FAM20C CL E G H5697522140OMIM:259775Raine syndrome35
HP:0001522HP:0001522Death in infancy0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040282 - Frequent15
HP:0001522HP:0001522Death in infancy0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0001522HP:0001522Death in infancy0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14.36
HP:0001522HP:0001522Death in infancy0FGA CL E G H22433661OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included47
HP:0001522HP:0001522Death in infancy0FGB CL E G H22443662OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included62
HP:0001522HP:0001522Death in infancy0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0001522HP:0001522Death in infancy0FGG CL E G H22663694OMIM:202400Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included34
HP:0001522HP:0001522Death in infancy0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0001522HP:0001522Death in infancy0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040283 - Occasional353
HP:0001522HP:0001522Death in infancy0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040283 - Occasional263
HP:0001522HP:0001522Death in infancy0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001522HP:0001522Death in infancy0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0001522HP:0001522Death in infancy0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040281 - Very frequent
HP:0001522HP:0001522Death in infancy0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy.5
HP:0001522HP:0001522Death in infancy0GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040283 - Occasional52
HP:0001522HP:0001522Death in infancy0GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type.52
HP:0001522HP:0001522Death in infancy0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0001522HP:0001522Death in infancy0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I.120
HP:0001522HP:0001522Death in infancy0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy.166
HP:0001522HP:0001522Death in infancy0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0001522HP:0001522Death in infancy0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0001522HP:0001522Death in infancy0GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional2
HP:0001522HP:0001522Death in infancy0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040283 - Occasional80
HP:0001522HP:0001522Death in infancy0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0001522HP:0001522Death in infancy0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040282 - Frequent2
HP:0001522HP:0001522Death in infancy0HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional21
HP:0001522HP:0001522Death in infancy0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0001522HP:0001522Death in infancy0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0001522HP:0001522Death in infancy0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040282 - Frequent115
HP:0001522HP:0001522Death in infancy0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0001522HP:0001522Death in infancy0ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0001522HP:0001522Death in infancy0JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts4
HP:0001522HP:0001522Death in infancy0JPH2 CL E G H5715814202OMIM:619492CARDIOMYOPATHY, DILATED, 2E; CMD2E111
HP:0001522HP:0001522Death in infancy0KIF20A CL E G H101129787OMIM:619433CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0001522HP:0001522Death in infancy0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0001522HP:0001522Death in infancy0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040282 - Frequent196
HP:0001522HP:0001522Death in infancy0KRT5 CL E G H38526442OMIM:619599EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D173
HP:0001522HP:0001522Death in infancy0LAMA3 CL E G H39096483OMIM:619784EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B116
HP:0001522HP:0001522Death in infancy0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0001522HP:0001522Death in infancy0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0001522HP:0001522Death in infancy0LAMC2 CL E G H39186493OMIM:619786EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE; JEB3B135
HP:0001522HP:0001522Death in infancy0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0001522HP:0001522Death in infancy0LAT CL E G H2704018874OMIM:617514Immunodeficiency 522
HP:0001522HP:0001522Death in infancy0LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional43
HP:0001522HP:0001522Death in infancy0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0001522HP:0001522Death in infancy0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency.73
HP:0001522HP:0001522Death in infancy0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0001522HP:0001522Death in infancy0LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2
HP:0001522HP:0001522Death in infancy0LMNA CL E G H40006636ORPHA:157973Congenital muscular dystrophy due to LMNA mutationHP:0040283 - Occasional645
HP:0001522HP:0001522Death in infancy0LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional
HP:0001522HP:0001522Death in infancy0LTC4S CL E G H40566719OMIM:614037LEUKOTRIENE C4 SYNTHASE DEFICIENCY1
HP:0001522HP:0001522Death in infancy0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0001522HP:0001522Death in infancy0MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 1.45
HP:0001522HP:0001522Death in infancy0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040282 - Frequent1819
HP:0001522HP:0001522Death in infancy0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040282 - Frequent131
HP:0001522HP:0001522Death in infancy0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF32
HP:0001522HP:0001522Death in infancy0MRPL44 CL E G H6508016650OMIM:615395Combined oxidative phosphorylation deficiency 1613
HP:0001522HP:0001522Death in infancy0MRPS22 CL E G H5694514508OMIM:611719Combined oxidative phosphorylation deficiency 5.25
HP:0001522HP:0001522Death in infancy0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0001522HP:0001522Death in infancy0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040282 - Frequent2162
HP:0001522HP:0001522Death in infancy0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040282 - Frequent2232
HP:0001522HP:0001522Death in infancy0MYH11 CL E G H46297569ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional418
HP:0001522HP:0001522Death in infancy0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophyHP:0040284 - Very rare
HP:0001522HP:0001522Death in infancy0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0001522HP:0001522Death in infancy0MYLK CL E G H46387590ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional326
HP:0001522HP:0001522Death in infancy0MYO5B CL E G H46457603OMIM:251850Diarrhea 2, with microvillous atrophy.192
HP:0001522HP:0001522Death in infancy0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0001522HP:0001522Death in infancy0NADSYN1 CL E G H5519129832OMIM:618845VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001522HP:0001522Death in infancy0NDUFA2 CL E G H46957685OMIM:618235Mitochondrial complex I deficiency, nuclear type 13.19
HP:0001522HP:0001522Death in infancy0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 18.31
HP:0001522HP:0001522Death in infancy0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0001522HP:0001522Death in infancy0NEB CL E G H47037720OMIM:619334ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6745
HP:0001522HP:0001522Death in infancy0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0001522HP:0001522Death in infancy0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0001522HP:0001522Death in infancy0NPC2 CL E G H1057714537OMIM:607625Niemann-pick disease, type C233
HP:0001522HP:0001522Death in infancy0NR1H4 CL E G H99717967OMIM:617049CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC514
HP:0001522HP:0001522Death in infancy0NRAS CL E G H48937989OMIM:249400Neurocutaneous melanosis, somatic.102
HP:0001522HP:0001522Death in infancy0NSF CL E G H49058016OMIM:619340DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0001522HP:0001522Death in infancy0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0001522HP:0001522Death in infancy0OAS1 CL E G H49388086OMIM:618042Pulmonary alveolar proteinosis with hypogammaglobulinemia2
HP:0001522HP:0001522Death in infancy0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0001522HP:0001522Death in infancy0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0001522HP:0001522Death in infancy0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0001522HP:0001522Death in infancy0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040281 - Very frequent169
HP:0001522HP:0001522Death in infancy0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040281 - Very frequent75
HP:0001522HP:0001522Death in infancy0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040281 - Very frequent4
HP:0001522HP:0001522Death in infancy0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040281 - Very frequent65
HP:0001522HP:0001522Death in infancy0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040281 - Very frequent66
HP:0001522HP:0001522Death in infancy0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040281 - Very frequent46
HP:0001522HP:0001522Death in infancy0PEX16 CL E G H94098857OMIM:614876Peroxisome biogenesis disorder 8A (Zellweger).59
HP:0001522HP:0001522Death in infancy0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040281 - Very frequent59
HP:0001522HP:0001522Death in infancy0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040281 - Very frequent62
HP:0001522HP:0001522Death in infancy0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040281 - Very frequent82
HP:0001522HP:0001522Death in infancy0PEX26 CL E G H5567022965OMIM:614872Peroxisome biogenesis disorder 7A (zellweger).106
HP:0001522HP:0001522Death in infancy0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040281 - Very frequent106
HP:0001522HP:0001522Death in infancy0PEX3 CL E G H85048858OMIM:614882Peroxisome biogenesis disorder 10A (Zellweger).47
HP:0001522HP:0001522Death in infancy0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040281 - Very frequent47
HP:0001522HP:0001522Death in infancy0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040281 - Very frequent99
HP:0001522HP:0001522Death in infancy0PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger).98
HP:0001522HP:0001522Death in infancy0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040281 - Very frequent98
HP:0001522HP:0001522Death in infancy0PHOX2B CL E G H89299143ORPHA:99803Haddad syndromeHP:0040282 - Frequent86
HP:0001522HP:0001522Death in infancy0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0001522HP:0001522Death in infancy0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001522HP:0001522Death in infancy0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0001522HP:0001522Death in infancy0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040282 - Frequent162
HP:0001522HP:0001522Death in infancy0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0001522HP:0001522Death in infancy0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0001522HP:0001522Death in infancy0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0001522HP:0001522Death in infancy0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040282 - Frequent56
HP:0001522HP:0001522Death in infancy0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040282 - Frequent1121
HP:0001522HP:0001522Death in infancy0POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type).45
HP:0001522HP:0001522Death in infancy0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0001522HP:0001522Death in infancy0PPCS CL E G H7971725686OMIM:618189Cardiomyopathy, dilated, 2C
HP:0001522HP:0001522Death in infancy0PPIL1 CL E G H516459260OMIM:619301PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001522HP:0001522Death in infancy0PQBP1 CL E G H100849330ORPHA:93946Hamel cerebro-palato-cardiac syndromeHP:0040281 - Very frequent28
HP:0001522HP:0001522Death in infancy0PROKR2 CL E G H12867415836ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional34
HP:0001522HP:0001522Death in infancy0PRPS1 CL E G H56319462OMIM:301835Arts syndrome.49
HP:0001522HP:0001522Death in infancy0PSAP CL E G H56609498OMIM:611721Combined saposin deficiency.81
HP:0001522HP:0001522Death in infancy0PSAP CL E G H56609498ORPHA:139406Encephalopathy due to prosaposin deficiencyHP:0040281 - Very frequent81
HP:0001522HP:0001522Death in infancy0PSAP CL E G H56609498OMIM:611722KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY81
HP:0001522HP:0001522Death in infancy0PSAT1 CL E G H2996819129OMIM:610992Phosphoserine aminotransferase deficiency27
HP:0001522HP:0001522Death in infancy0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis.22
HP:0001522HP:0001522Death in infancy0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001522HP:0001522Death in infancy0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0001522HP:0001522Death in infancy0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0001522HP:0001522Death in infancy0RET CL E G H59799967ORPHA:99803Haddad syndromeHP:0040282 - Frequent572
HP:0001522HP:0001522Death in infancy0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0001522HP:0001522Death in infancy0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0001522HP:0001522Death in infancy0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0001522HP:0001522Death in infancy0ROBO1 CL E G H609110249ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional7
HP:0001522HP:0001522Death in infancy0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0001522HP:0001522Death in infancy0RPL3L CL E G H612310351OMIM:619371CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001522HP:0001522Death in infancy0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040283 - Occasional263
HP:0001522HP:0001522Death in infancy0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1.40
HP:0001522HP:0001522Death in infancy0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001522HP:0001522Death in infancy0SFTPB CL E G H643910801OMIM:265120Surfactant metabolism dysfunction, pulmonary, 151
HP:0001522HP:0001522Death in infancy0SIK1 CL E G H15009411142OMIM:616341Deafness, autosomal dominant 6711
HP:0001522HP:0001522Death in infancy0SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephalyHP:0040281 - Very frequent36
HP:0001522HP:0001522Death in infancy0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0001522HP:0001522Death in infancy0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant68
HP:0001522HP:0001522Death in infancy0SLC25A46 CL E G H9113725198OMIM:619303PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E14
HP:0001522HP:0001522Death in infancy0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0001522HP:0001522Death in infancy0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0001522HP:0001522Death in infancy0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, includedHP:0040282 - Frequent22
HP:0001522HP:0001522Death in infancy0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0001522HP:0001522Death in infancy0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0001522HP:0001522Death in infancy0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040282 - Frequent6
HP:0001522HP:0001522Death in infancy0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0001522HP:0001522Death in infancy0STX3 CL E G H680911438OMIM:619446RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID1
HP:0001522HP:0001522Death in infancy0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0001522HP:0001522Death in infancy0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA.40
HP:0001522HP:0001522Death in infancy0TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type).1
HP:0001522HP:0001522Death in infancy0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040282 - Frequent253
HP:0001522HP:0001522Death in infancy0TMEM260 CL E G H5491620185OMIM:617478Structural heart defects and renal anomalies syndrome2
HP:0001522HP:0001522Death in infancy0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040282 - Frequent63
HP:0001522HP:0001522Death in infancy0TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0001522HP:0001522Death in infancy0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001522HP:0001522Death in infancy0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency28
HP:0001522HP:0001522Death in infancy0TRIP11 CL E G H932112305ORPHA:166272OdontochondrodysplasiaHP:0040283 - Occasional133
HP:0001522HP:0001522Death in infancy0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia133
HP:0001522HP:0001522Death in infancy0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient101
HP:0001522HP:0001522Death in infancy0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B84
HP:0001522HP:0001522Death in infancy0TSEN54 CL E G H28398927561OMIM:225753Pontocerebellar hypoplasia, type 4.102
HP:0001522HP:0001522Death in infancy0TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndromeHP:0040281 - Very frequent1
HP:0001522HP:0001522Death in infancy0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0001522HP:0001522Death in infancy0TUFM CL E G H728412420OMIM:610678Combined oxidative phosphorylation deficiency 455
HP:0001522HP:0001522Death in infancy0UBR1 CL E G H19713116808ORPHA:2315Johanson-Blizzard syndromeHP:0040283 - Occasional25
HP:0001522HP:0001522Death in infancy0VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 227
HP:0001522HP:0001522Death in infancy0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 1.63
HP:0001522HP:0001522Death in infancy0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001522HP:0001522Death in infancy0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040282 - Frequent83
HP:0001522HP:0001522Death in infancy0WDR11 CL E G H5571713831ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional10
HP:0001522HP:0001522Death in infancy0WT1 CL E G H749012796OMIM:608978MEACHAM SYNDROME177
HP:0001522HP:0001522Death in infancy0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91


Genes (229) :AARS2 ABCA3 ACAD9 ACADVL ACOX1 ACTG2 AFF3 AIMP1 AIMP2 ALG1 ALG14 ALG8 ALPL AMT ANTXR2 AP1S1 ARX ASCL1 ASXL3 ATP1A2 ATP6AP1 ATRX BMPR1B BOLA3 BRAT1 C2ORF69 CCDC22 CD3G CD96 CDC40 CDK5 CDON CLCF1 CNTN1 COASY COG6 COX10 COX16 COX5A CPT2 CRIPT CRLF1 CRTAP DCX DHCR7 DLL3 DNM1L DNM2 DOLK DPH5 DPM2 DYNLT2B ECHS1 EFL1 EMG1 EPCAM EPG5 ERCC1 ERCC2 ERCC5 ERCC6 ETHE1 EXTL3 FAM111A FAM20C FAN1 FANCB FARS2 FGA FGB FGFR3 FGG FLI1 FRAS1 FREM2 FXR1 GATC GBA1 GCSH GDF5 GFAP GLB1 GLDC GPC3 GPC4 GPR161 GRIP1 GRM7 HDAC6 HESX1 HSPG2 HTRA2 IDUA ITGB4 ITPA JAM3 JPH2 KIF20A KLHL40 KRAS KRT5 LAMA3 LAMB3 LAMC2 LAT LHX4 LIFR LIPA LIPT1 LIPT2 LMNA LMOD1 LTC4S MADD MESP2 MLH1 MLH3 MPDU1 MRPL44 MRPS22 MRPS34 MSH2 MSH6 MYH11 MYL1 MYL2 MYLK MYO5B NADK2 NADSYN1 NDUFA2 NDUFAF3 NDUFS4 NEB NFS1 NFU1 NPC2 NR1H4 NRAS NSF NXN OAS1 OCRL ORC1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHOX2B PIGA PIGB PIGY PIK3CA PLEC PLXND1 PMM2 PMS1 PMS2 POLG2 POMT2 PPCS PPIL1 PQBP1 PROKR2 PRPS1 PSAP PSAT1 PTF1A QRSL1 RAD51C RBM8A RET REV3L RMND1 RNU4ATAC ROBO1 ROR2 RPL3L SCN4A SCO2 SCYL2 SFTPB SIK1 SLC25A19 SLC25A24 SLC25A4 SLC25A46 SLC26A2 SMARCD2 SMO SMOC1 SMPD4 SNRPB STAT2 STX3 SUCLG1 SUOX TFAM TGFBR2 TMEM260 TMEM70 TNFRSF11A TOR1A TPI1 TRIP11 TRMU TSEN2 TSEN54 TSPYL1 TTC7A TUFM UBR1 VIPAS39 VPS33B VPS35L WASHC5 WDR11 WT1 ZNFX1

Diseases (188) :OMIM:614096 OMIM:610921 OMIM:611126 OMIM:201475 ORPHA:2971 ORPHA:2241 OMIM:619297 OMIM:260600 OMIM:618006 OMIM:608540 OMIM:619036 OMIM:608104 OMIM:241500 OMIM:605899 ORPHA:2028 OMIM:609313 ORPHA:452 ORPHA:99803 OMIM:615485 OMIM:619605 OMIM:300972 ORPHA:847 ORPHA:2098 OMIM:614299 OMIM:614498 OMIM:619423 ORPHA:7 OMIM:615607 ORPHA:1308 OMIM:619302 OMIM:616342 ORPHA:95496 ORPHA:1545 OMIM:612540 OMIM:618266 OMIM:614576 OMIM:619046 OMIM:619355 OMIM:619064 OMIM:608836 OMIM:615789 OMIM:610682 OMIM:300067 OMIM:270400 OMIM:277300 OMIM:614388 OMIM:615368 OMIM:610768 OMIM:620070 OMIM:615042 OMIM:617405 OMIM:616277 OMIM:617941 ORPHA:1270 ORPHA:144 ORPHA:1493 ORPHA:1466 OMIM:601675 OMIM:602473 OMIM:617425 OMIM:602361 OMIM:259775 OMIM:300514 OMIM:614946 OMIM:202400 OMIM:100800 ORPHA:2308 ORPHA:2052 OMIM:618822 OMIM:618839 ORPHA:85212 OMIM:200700 OMIM:203450 OMIM:230500 ORPHA:373 OMIM:618922 ORPHA:163966 ORPHA:800 OMIM:617248 ORPHA:93473 OMIM:226730 OMIM:616647 OMIM:613730 OMIM:619492 OMIM:619433 OMIM:615348 OMIM:619599 OMIM:619784 OMIM:226700 OMIM:619786 OMIM:617514 OMIM:601559 OMIM:278000 OMIM:616299 OMIM:617668 ORPHA:157973 OMIM:614037 OMIM:619004 OMIM:609180 OMIM:615395 OMIM:611719 OMIM:617664 OMIM:618414 OMIM:619424 OMIM:251850 OMIM:616034 OMIM:618845 OMIM:618235 OMIM:618240 OMIM:252010 OMIM:619334 OMIM:619386 OMIM:605711 OMIM:607625 OMIM:617049 OMIM:249400 OMIM:619340 ORPHA:1507 OMIM:618042 ORPHA:534 OMIM:224690 OMIM:619055 ORPHA:912 OMIM:614876 OMIM:614872 OMIM:614882 OMIM:614862 OMIM:300868 OMIM:618580 OMIM:616809 ORPHA:570 OMIM:212065 OMIM:618528 OMIM:613150 OMIM:618189 OMIM:619301 ORPHA:93946 OMIM:301835 OMIM:611721 ORPHA:139406 OMIM:611722 OMIM:610992 OMIM:609069 OMIM:618835 OMIM:613390 OMIM:274000 OMIM:614922 OMIM:210710 OMIM:619371 ORPHA:682 OMIM:604377 OMIM:618766 OMIM:265120 OMIM:616341 ORPHA:99742 OMIM:612289 OMIM:617184 OMIM:619303 OMIM:256050 OMIM:617475 OMIM:241800 ORPHA:1106 OMIM:618622 ORPHA:1393 OMIM:618886 OMIM:619446 OMIM:245400 OMIM:272300 OMIM:617156 OMIM:617478 ORPHA:1194 OMIM:612301 OMIM:618947 OMIM:615512 ORPHA:166272 OMIM:184260 OMIM:613070 OMIM:612389 OMIM:225753 ORPHA:168593 OMIM:243150 OMIM:610678 ORPHA:2315 OMIM:613404 OMIM:208085 OMIM:619135 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.