Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of prenatal development or birth (HP:0001197)help
..Starting node
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Premature birth (HP:0001622)help
Term ID: 1622
Name: Premature birth
Synonym: Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time
Definition: The birth of a baby of less than 37 weeks of gestational age.
Comments:
Reference: HP:0001622
Genes and Diseases:
 
       Child Nodes:
........expandPremature birth following premature rupture of fetal membranes (HP:0005100) help
........expandPremature delivery because of cervical insufficiency or membrane fragility (HP:0005267) help

 Sister Nodes: 
..expandAbnormal delivery (HP:0001787) help
..expandAbnormalities of placenta or umbilical cord (HP:0001194) help
..expandAbnormality of the amniotic fluid (HP:0001560) help
..expandFemale fetal virilization (HP:0031170) help
..expandFetal ascites (HP:0001791) help
..expandFetal distress (HP:0025116) help
..expandFetal ultrasound soft marker (HP:0011425) help
..expandHydrops fetalis (HP:0001789) help
..expandIncreased nuchal translucency (HP:0010880) help
..expandIntrauterine fetal demise of one twin after midgestation (HP:0030753) help
..expandLow APGAR score (HP:0030917) help
..expandPostterm pregnancy (HP:0031169) help
..expandPrenatal maternal abnormality (HP:0002686) help
..expandPrenatal movement abnormality (HP:0001557) help
..expandTwin-to-twin transfusion (HP:0031110) 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:0001622HP:0001622Premature birth0ABCA12 CL E G H2615414637OMIM:242500Ichthyosis, congenital, autosomal recessive 4B.130
HP:0001622HP:0001622Premature birth0ABCA3 CL E G H2133ORPHA:70587Infant acute respiratory distress syndromeHP:0040282 - Frequent147
HP:0001622HP:0001622Premature birth0ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare146
HP:0001622HP:0001622Premature birth0ABCB4 CL E G H524445OMIM:614972Cholestasis, intrahepatic, of pregnancy 3.111
HP:0001622HP:0001622Premature birth0ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare111
HP:0001622HP:0001622Premature birth0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional96
HP:0001622HP:0001622Premature birth0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional96
HP:0001622HP:0001622Premature birth0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0001622HP:0001622Premature birth0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0001622HP:0001622Premature birth0ALB CL E G H213399ORPHA:86816Congenital analbuminemiaHP:0040282 - Frequent104
HP:0001622HP:0001622Premature birth0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0001622HP:0001622Premature birth0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040282 - Frequent46
HP:0001622HP:0001622Premature birth0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0001622HP:0001622Premature birth0ASCC1 CL E G H5100824268OMIM:616867Spinal muscular atrophy with congenital bone fractures 22
HP:0001622HP:0001622Premature birth0ATP8B1 CL E G H52053706OMIM:147480Cholestasis, intrahepatic, of pregnancy, 1.144
HP:0001622HP:0001622Premature birth0ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare144
HP:0001622HP:0001622Premature birth0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0001622HP:0001622Premature birth0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040281 - Very frequent5
HP:0001622HP:0001622Premature birth0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0001622HP:0001622Premature birth0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0001622HP:0001622Premature birth0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0001622HP:0001622Premature birth0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0001622HP:0001622Premature birth0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent53
HP:0001622HP:0001622Premature birth0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent200
HP:0001622HP:0001622Premature birth0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development.102
HP:0001622HP:0001622Premature birth0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0001622HP:0001622Premature birth0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent9
HP:0001622HP:0001622Premature birth0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27
HP:0001622HP:0001622Premature birth0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent27
HP:0001622HP:0001622Premature birth0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0001622HP:0001622Premature birth0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040282 - Frequent215
HP:0001622HP:0001622Premature birth0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0001622HP:0001622Premature birth0COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA.373
HP:0001622HP:0001622Premature birth0COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA.243
HP:0001622HP:0001622Premature birth0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001622HP:0001622Premature birth0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040282 - Frequent749
HP:0001622HP:0001622Premature birth0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0001622HP:0001622Premature birth0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0001622HP:0001622Premature birth0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0001622HP:0001622Premature birth0COPB2 CL E G H92762232OMIM:619884
HP:0001622HP:0001622Premature birth0CRB2 CL E G H28620418688OMIM:219730Ventriculomegaly with cystic kidney diseaseHP:0040283 - Occasional12
HP:0001622HP:0001622Premature birth0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040281 - Very frequent
HP:0001622HP:0001622Premature birth0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040282 - Frequent31
HP:0001622HP:0001622Premature birth0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040282 - Frequent31
HP:0001622HP:0001622Premature birth0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001622HP:0001622Premature birth0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairmentHP:0040284 - Very rare
HP:0001622HP:0001622Premature birth0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent22
HP:0001622HP:0001622Premature birth0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0001622HP:0001622Premature birth0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0001622HP:0001622Premature birth0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent3
HP:0001622HP:0001622Premature birth0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0001622HP:0001622Premature birth0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0001622HP:0001622Premature birth0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0001622HP:0001622Premature birth0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0001622HP:0001622Premature birth0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040282 - Frequent92
HP:0001622HP:0001622Premature birth0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0001622HP:0001622Premature birth0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2
HP:0001622HP:0001622Premature birth0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040283 - Occasional
HP:0001622HP:0001622Premature birth0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent17
HP:0001622HP:0001622Premature birth0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent172
HP:0001622HP:0001622Premature birth0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0001622HP:0001622Premature birth0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0001622HP:0001622Premature birth0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0001622HP:0001622Premature birth0FLVCR2 CL E G H5564020105OMIM:225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.47
HP:0001622HP:0001622Premature birth0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent48
HP:0001622HP:0001622Premature birth0FZD4 CL E G H83224042ORPHA:90050Retinopathy of prematurityHP:0040281 - Very frequent109
HP:0001622HP:0001622Premature birth0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040284 - Very rare23
HP:0001622HP:0001622Premature birth0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent2
HP:0001622HP:0001622Premature birth0GATB CL E G H51888849OMIM:618838COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001622HP:0001622Premature birth0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0001622HP:0001622Premature birth0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0001622HP:0001622Premature birth0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0001622HP:0001622Premature birth0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent173
HP:0001622HP:0001622Premature birth0HBB CL E G H30434827ORPHA:2133Hemoglobin E diseaseHP:0040283 - Occasional580
HP:0001622HP:0001622Premature birth0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0001622HP:0001622Premature birth0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040281 - Very frequent25
HP:0001622HP:0001622Premature birth0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0001622HP:0001622Premature birth0HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040281 - Very frequent31
HP:0001622HP:0001622Premature birth0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0001622HP:0001622Premature birth0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0001622HP:0001622Premature birth0KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040281 - Very frequent167
HP:0001622HP:0001622Premature birth0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional28
HP:0001622HP:0001622Premature birth0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional13
HP:0001622HP:0001622Premature birth0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional13
HP:0001622HP:0001622Premature birth0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0001622HP:0001622Premature birth0LAGE3 CL E G H827026058ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0001622HP:0001622Premature birth0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0001622HP:0001622Premature birth0LMOD3 CL E G H562036649OMIM:616165Nemaline myopathy 10.11
HP:0001622HP:0001622Premature birth0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional11
HP:0001622HP:0001622Premature birth0LRP5 CL E G H40416697ORPHA:90050Retinopathy of prematurityHP:0040281 - Very frequent125
HP:0001622HP:0001622Premature birth0MAGED2 CL E G H1091616353OMIM:300971Bartter syndrome, type 5, antenatal, transient.6
HP:0001622HP:0001622Premature birth0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0001622HP:0001622Premature birth0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0001622HP:0001622Premature birth0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040281 - Very frequent2
HP:0001622HP:0001622Premature birth0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0001622HP:0001622Premature birth0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0001622HP:0001622Premature birth0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0001622HP:0001622Premature birth0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked185
HP:0001622HP:0001622Premature birth0MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0001622HP:0001622Premature birth0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0001622HP:0001622Premature birth0MYH7 CL E G H46257577ORPHA:1880Ebstein malformation of the tricuspid valveHP:0040281 - Very frequent1269
HP:0001622HP:0001622Premature birth0NDP CL E G H46937678ORPHA:90050Retinopathy of prematurityHP:0040281 - Very frequent39
HP:0001622HP:0001622Premature birth0NDUFB11 CL E G H5453920372OMIM:301021Mitochondrial complex I deficiency, nuclear type 30.3
HP:0001622HP:0001622Premature birth0NDUFB3 CL E G H47097698OMIM:618246Mitochondrial complex I deficiency, nuclear type 25.9
HP:0001622HP:0001622Premature birth0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional745
HP:0001622HP:0001622Premature birth0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040283 - Occasional745
HP:0001622HP:0001622Premature birth0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0001622HP:0001622Premature birth0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040283 - Occasional217
HP:0001622HP:0001622Premature birth0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent45
HP:0001622HP:0001622Premature birth0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0001622HP:0001622Premature birth0NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare14
HP:0001622HP:0001622Premature birth0NUP107 CL E G H5712229914ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent5
HP:0001622HP:0001622Premature birth0NUP133 CL E G H5574618016ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent1
HP:0001622HP:0001622Premature birth0OSGEP CL E G H5564418028ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0001622HP:0001622Premature birth0PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0001622HP:0001622Premature birth0PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0001622HP:0001622Premature birth0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040282 - Frequent169
HP:0001622HP:0001622Premature birth0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040282 - Frequent75
HP:0001622HP:0001622Premature birth0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040282 - Frequent4
HP:0001622HP:0001622Premature birth0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040282 - Frequent65
HP:0001622HP:0001622Premature birth0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040282 - Frequent66
HP:0001622HP:0001622Premature birth0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040282 - Frequent46
HP:0001622HP:0001622Premature birth0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040282 - Frequent59
HP:0001622HP:0001622Premature birth0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040282 - Frequent62
HP:0001622HP:0001622Premature birth0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040282 - Frequent82
HP:0001622HP:0001622Premature birth0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040282 - Frequent106
HP:0001622HP:0001622Premature birth0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040282 - Frequent47
HP:0001622HP:0001622Premature birth0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040282 - Frequent99
HP:0001622HP:0001622Premature birth0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040282 - Frequent98
HP:0001622HP:0001622Premature birth0PNPO CL E G H5516330260ORPHA:79096Pyridoxal phosphate-responsive seizuresHP:0040282 - Frequent92
HP:0001622HP:0001622Premature birth0PNPO CL E G H5516330260OMIM:610090Pyridoxamine 5-prime-phosphate oxidase deficiency.92
HP:0001622HP:0001622Premature birth0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent665
HP:0001622HP:0001622Premature birth0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0001622HP:0001622Premature birth0PTH1R CL E G H57459608OMIM:215045Chondrodysplasia, Blomstrand type.58
HP:0001622HP:0001622Premature birth0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001622HP:0001622Premature birth0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0001622HP:0001622Premature birth0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0001622HP:0001622Premature birth0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0001622HP:0001622Premature birth0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0001622HP:0001622Premature birth0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome.15
HP:0001622HP:0001622Premature birth0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0001622HP:0001622Premature birth0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0001622HP:0001622Premature birth0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0001622HP:0001622Premature birth0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0001622HP:0001622Premature birth0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0001622HP:0001622Premature birth0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001622HP:0001622Premature birth0SERPINE1 CL E G H50548583ORPHA:465Congenital plasminogen activator inhibitor type 1 deficiencyHP:0040282 - Frequent39
HP:0001622HP:0001622Premature birth0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0001622HP:0001622Premature birth0SFTPB CL E G H643910801ORPHA:70587Infant acute respiratory distress syndromeHP:0040282 - Frequent51
HP:0001622HP:0001622Premature birth0SFTPC CL E G H644010802ORPHA:70587Infant acute respiratory distress syndromeHP:0040282 - Frequent33
HP:0001622HP:0001622Premature birth0SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent67
HP:0001622HP:0001622Premature birth0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent32
HP:0001622HP:0001622Premature birth0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2
HP:0001622HP:0001622Premature birth0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0001622HP:0001622Premature birth0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040284 - Very rare57
HP:0001622HP:0001622Premature birth0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0001622HP:0001622Premature birth0SLC26A3 CL E G H18113018OMIM:214700Diarrhea 1, secretory chloride, congenital.89
HP:0001622HP:0001622Premature birth0SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0001622HP:0001622Premature birth0SLC27A4 CL E G H1099910998ORPHA:88621Ichthyosis-prematurity syndromeHP:0040281 - Very frequent26
HP:0001622HP:0001622Premature birth0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0001622HP:0001622Premature birth0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0001622HP:0001622Premature birth0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0001622HP:0001622Premature birth0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0001622HP:0001622Premature birth0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0001622HP:0001622Premature birth0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0001622HP:0001622Premature birth0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent124
HP:0001622HP:0001622Premature birth0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent1
HP:0001622HP:0001622Premature birth0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent32
HP:0001622HP:0001622Premature birth0THOC2 CL E G H5718719073OMIM:300957Mental retardation, X-linked 12/355
HP:0001622HP:0001622Premature birth0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0001622HP:0001622Premature birth0TP53RK CL E G H11285816197ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0001622HP:0001622Premature birth0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040283 - Occasional108
HP:0001622HP:0001622Premature birth0TPRKB CL E G H5100224259ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0001622HP:0001622Premature birth0TRIP4 CL E G H932512310OMIM:616866Spinal muscular atrophy with congenital bone fractures 14
HP:0001622HP:0001622Premature birth0TSHR CL E G H725312373OMIM:609152Hyperthyroidism, nonautoimmune.97
HP:0001622HP:0001622Premature birth0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001622HP:0001622Premature birth0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0001622HP:0001622Premature birth0WDR4 CL E G H1078512756ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent
HP:0001622HP:0001622Premature birth0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0001622HP:0001622Premature birth0WDR73 CL E G H8494225928ORPHA:2065Galloway-Mowat syndromeHP:0040282 - Frequent14
HP:0001622HP:0001622Premature birth0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001622HP:0001622Premature birth0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent34
HP:0001622HP:0001622Premature birth0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83
HP:0001622HP:0001622Premature birth0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal.83
HP:0001622HP:0001622Premature birth0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001622HP:0025666Very preterm birth1 CL E G H
HP:0001622HP:0025665Extremely preterm birth1 CL E G H
HP:0001622HP:0025664Moderate to late preterm birth1 CL E G H
HP:0001622HP:0005267Premature delivery because of cervical insufficiency or membrane fragility1COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type.749
HP:0001622HP:0005100Premature birth following premature rupture of fetal membranes1COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I.660
HP:0001622HP:0005267Premature delivery because of cervical insufficiency or membrane fragility1LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent645
HP:0001622HP:0005267Premature delivery because of cervical insufficiency or membrane fragility1ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040281 - Very frequent83


Genes (162) :ABCA12 ABCA3 ABCB11 ABCB4 ACTA1 ADAMTS2 AIMP1 ALB ALG12 ALG8 ARHGAP31 ASCC1 ATP8B1 B4GALT1 BCR BRAF BRD4 BSND CDON CLCN7 CLCNKA CLCNKB CNOT1 COL11A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 COPB2 CRB2 CRKL CYP11A1 DHCR7 DHPS DISP1 DLK1 DLL1 DLL4 DMPK DOCK6 EOGT ESCO2 FBN1 FCSK FDXR FGF8 FGFR1 FIG4 FLI1 FLNB FLVCR2 FOXH1 FZD4 GALK1 GAS1 GATB GATC GBA1 GLB1 GLI2 HBB HDAC8 HOXD13 HRAS HYLS1 IGHMBP2 KCNJ1 KIF7 KLHL40 KLHL41 KRAS LAGE3 LMNA LMOD3 LRP5 MAGED2 MAP2K1 MAP2K2 MAPK1 MED12 MEG3 MTM1 MUSK MYH7 NDP NDUFB11 NDUFB3 NEB NIPBL NLRP3 NODAL NOTCH1 NR1H4 NUP107 NUP133 OSGEP PAX2 PBX1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PNPO PTCH1 PTH1R QRSL1 RAD21 RALGAPA1 RBPJ RNU4ATAC RPL10 RPS19 RTL1 SARS2 SATB1 SERPINE1 SF3B4 SFTPB SFTPC SHH SIX3 SKIC2 SLC12A1 SLC16A2 SLC17A5 SLC26A3 SLC27A4 SMARCAL1 SMC1A SMC3 SMPD4 STAT2 STRADA SUFU TDGF1 TGIF1 THOC2 TMEM70 TP53RK TPM3 TPRKB TRIP4 TSHR VARS1 WARS2 WDR4 WDR62 WDR73 YARS1 ZIC2 ZMPSTE24 ZNF699

Diseases (109) :OMIM:242500 ORPHA:70587 ORPHA:69665 OMIM:614972 ORPHA:171433 ORPHA:171430 OMIM:225410 OMIM:260600 ORPHA:86816 ORPHA:79324 ORPHA:79325 ORPHA:974 OMIM:616867 OMIM:147480 ORPHA:79332 ORPHA:261330 ORPHA:1340 OMIM:115150 ORPHA:199 OMIM:602522 ORPHA:89938 ORPHA:280200 OMIM:618541 OMIM:613090 OMIM:619033 ORPHA:440354 ORPHA:287 OMIM:166210 OMIM:130050 ORPHA:286 OMIM:130000 OMIM:619884 OMIM:219730 ORPHA:168558 ORPHA:289548 OMIM:270400 OMIM:618480 ORPHA:96334 ORPHA:96184 ORPHA:589821 ORPHA:3103 OMIM:616914 OMIM:618324 ORPHA:543470 OMIM:216340 ORPHA:2308 OMIM:108720 OMIM:225790 ORPHA:90050 ORPHA:79237 OMIM:618838 OMIM:618839 OMIM:608013 OMIM:230600 ORPHA:2133 ORPHA:887 OMIM:218040 ORPHA:2189 OMIM:604320 OMIM:241200 ORPHA:2065 ORPHA:1662 OMIM:616165 OMIM:300971 ORPHA:93932 OMIM:310400 ORPHA:596 OMIM:208150 ORPHA:1880 OMIM:301021 OMIM:618246 ORPHA:1451 ORPHA:97362 ORPHA:912 ORPHA:79096 OMIM:610090 ORPHA:50945 OMIM:215045 OMIM:618835 OMIM:618797 ORPHA:2636 OMIM:616651 OMIM:300998 OMIM:105650 OMIM:613845 OMIM:619229 ORPHA:465 OMIM:154400 OMIM:614602 OMIM:601678 ORPHA:59 OMIM:269920 OMIM:214700 OMIM:608649 ORPHA:88621 ORPHA:1830 OMIM:618622 OMIM:618886 OMIM:611087 OMIM:300957 OMIM:614052 OMIM:616866 OMIM:609152 OMIM:617802 OMIM:619738 OMIM:604317 OMIM:619418 OMIM:275210 OMIM:619488
 

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