Human Phenotype Ontology 
Grandparent Node:
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Abnormality of digestive system morphology (HP:0025033)help
Grandparent Node:
expand
Abnormality of the gastrointestinal tract (HP:0011024)help
Parent Node:
expand
Morphological abnormality of the gastrointestinal tract (HP:0012718)help
..Starting node
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Gastrointestinal atresia (HP:0002589)help
Term ID: 2589
Name: Gastrointestinal atresia
Synonym: GI atresia
Definition:
Comments:
Reference: HP:0002589
Genes and Diseases:
 
       Child Nodes:
........expandEsophageal atresia (HP:0002032) help
................... HP:0004403 Proximal esophageal atresia
........expandIntestinal atresia (HP:0011100) help
................... HP:0002247 Duodenal atresia
................... HP:0004797 Multiple small bowel atresias
................... HP:0005235 Jejunal atresia
................... HP:0010448 Colonic atresia
................... HP:0011102 Ileal atresia
................... HP:0025023 Rectal atresia

 Sister Nodes: 
..expandAbnormal esophagus morphology (HP:0002031) help
..expandAbnormal gastrointestinal vascular morphology (HP:0004296) help
..expandAbnormal intestine morphology (HP:0002242) help
..expandAbnormal stomach morphology (HP:0002577) help
..expandAnorectal anomaly (HP:0012732) help
..expandGastrointestinal duplication (HP:0011140) 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:0002589HP:0002589Gastrointestinal atresia0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1
HP:0002589HP:0002589Gastrointestinal atresia0AR CL E G H367644ORPHA:95706Non-syndromic posterior hypospadias125
HP:0002589HP:0002589Gastrointestinal atresia0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0002589HP:0002589Gastrointestinal atresia0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0002589HP:0002589Gastrointestinal atresia0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0002589HP:0002589Gastrointestinal atresia0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0002589HP:0002589Gastrointestinal atresia0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0002589HP:0002589Gastrointestinal atresia0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0002589HP:0002589Gastrointestinal atresia0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0002589HP:0002589Gastrointestinal atresia0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0002589HP:0002589Gastrointestinal atresia0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0002589HP:0002589Gastrointestinal atresia0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0002589HP:0002589Gastrointestinal atresia0CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0002589HP:0002589Gastrointestinal atresia0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0002589HP:0002589Gastrointestinal atresia0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndrome4
HP:0002589HP:0002589Gastrointestinal atresia0CLMP CL E G H7982724039OMIM:615237Congenital short bowel syndrome7
HP:0002589HP:0002589Gastrointestinal atresia0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0002589HP:0002589Gastrointestinal atresia0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0002589HP:0002589Gastrointestinal atresia0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0002589HP:0002589Gastrointestinal atresia0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0002589HP:0002589Gastrointestinal atresia0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0002589HP:0002589Gastrointestinal atresia0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002589HP:0002589Gastrointestinal atresia0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002589HP:0002589Gastrointestinal atresia0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0002589HP:0002589Gastrointestinal atresia0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0002589HP:0002589Gastrointestinal atresia0ERCC4 CL E G H20723436OMIM:615272Fanconi anemia, complementation group Q158
HP:0002589HP:0002589Gastrointestinal atresia0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0002589HP:0002589Gastrointestinal atresia0FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0002589HP:0002589Gastrointestinal atresia0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalus58
HP:0002589HP:0002589Gastrointestinal atresia0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0002589HP:0002589Gastrointestinal atresia0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0002589HP:0002589Gastrointestinal atresia0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0002589HP:0002589Gastrointestinal atresia0FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactyly655
HP:0002589HP:0002589Gastrointestinal atresia0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0002589HP:0002589Gastrointestinal atresia0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0002589HP:0002589Gastrointestinal atresia0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrum172
HP:0002589HP:0002589Gastrointestinal atresia0FGFR2 CL E G H22633689ORPHA:87Apert syndrome175
HP:0002589HP:0002589Gastrointestinal atresia0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0002589HP:0002589Gastrointestinal atresia0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0002589HP:0002589Gastrointestinal atresia0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0002589HP:0002589Gastrointestinal atresia0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0002589HP:0002589Gastrointestinal atresia0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0002589HP:0002589Gastrointestinal atresia0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0002589HP:0002589Gastrointestinal atresia0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0002589HP:0002589Gastrointestinal atresia0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0002589HP:0002589Gastrointestinal atresia0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrum21
HP:0002589HP:0002589Gastrointestinal atresia0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0002589HP:0002589Gastrointestinal atresia0ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresia79
HP:0002589HP:0002589Gastrointestinal atresia0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0002589HP:0002589Gastrointestinal atresia0ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresia124
HP:0002589HP:0002589Gastrointestinal atresia0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0002589HP:0002589Gastrointestinal atresia0MAMLD1 CL E G H100462568ORPHA:95706Non-syndromic posterior hypospadias5
HP:0002589HP:0002589Gastrointestinal atresia0MIR17HG CL E G H40797523564ORPHA:391646Feingold syndrome type 21
HP:0002589HP:0002589Gastrointestinal atresia0MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0002589HP:0002589Gastrointestinal atresia0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040281 - Very frequent35
HP:0002589HP:0002589Gastrointestinal atresia0MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0002589HP:0002589Gastrointestinal atresia0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0002589HP:0002589Gastrointestinal atresia0NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0002589HP:0002589Gastrointestinal atresia0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0002589HP:0002589Gastrointestinal atresia0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrum41
HP:0002589HP:0002589Gastrointestinal atresia0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0002589HP:0002589Gastrointestinal atresia0PAICS CL E G H106068587OMIM:619859
HP:0002589HP:0002589Gastrointestinal atresia0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040281 - Very frequent11
HP:0002589HP:0002589Gastrointestinal atresia0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002589HP:0002589Gastrointestinal atresia0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0002589HP:0002589Gastrointestinal atresia0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0002589HP:0002589Gastrointestinal atresia0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0002589HP:0002589Gastrointestinal atresia0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0002589HP:0002589Gastrointestinal atresia0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002589HP:0002589Gastrointestinal atresia0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrum34
HP:0002589HP:0002589Gastrointestinal atresia0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0002589HP:0002589Gastrointestinal atresia0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0002589HP:0002589Gastrointestinal atresia0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0002589HP:0002589Gastrointestinal atresia0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0002589HP:0002589Gastrointestinal atresia0RFX6 CL E G H22254621478OMIM:615710Mitchell-Riley syndrome28
HP:0002589HP:0002589Gastrointestinal atresia0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0002589HP:0002589Gastrointestinal atresia0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0002589HP:0002589Gastrointestinal atresia0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0002589HP:0002589Gastrointestinal atresia0SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0002589HP:0002589Gastrointestinal atresia0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndrome9
HP:0002589HP:0002589Gastrointestinal atresia0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0002589HP:0002589Gastrointestinal atresia0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 320
HP:0002589HP:0002589Gastrointestinal atresia0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0002589HP:0002589Gastrointestinal atresia0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0002589HP:0002589Gastrointestinal atresia0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002589HP:0002589Gastrointestinal atresia0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndrome33
HP:0002589HP:0002589Gastrointestinal atresia0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 333
HP:0002589HP:0002589Gastrointestinal atresia0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrum33
HP:0002589HP:0002589Gastrointestinal atresia0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrum24
HP:0002589HP:0002589Gastrointestinal atresia0SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome100
HP:0002589HP:0002589Gastrointestinal atresia0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0002589HP:0002589Gastrointestinal atresia0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0002589HP:0002589Gastrointestinal atresia0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0002589HP:0002589Gastrointestinal atresia0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0002589HP:0002589Gastrointestinal atresia0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0002589HP:0002589Gastrointestinal atresia0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0002589HP:0002589Gastrointestinal atresia0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040281 - Very frequent26
HP:0002589HP:0002589Gastrointestinal atresia0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0002589HP:0002589Gastrointestinal atresia0TTC7A CL E G H5721719750ORPHA:2300Multiple intestinal atresiaHP:0040281 - Very frequent26
HP:0002589HP:0002589Gastrointestinal atresia0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002589HP:0002589Gastrointestinal atresia0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type136
HP:0002589HP:0002589Gastrointestinal atresia0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0002589HP:0002589Gastrointestinal atresia0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0002589HP:0002589Gastrointestinal atresia0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0002589HP:0002589Gastrointestinal atresia0ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0002589HP:0002589Gastrointestinal atresia0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0002589HP:0011100Intestinal atresia1AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1
HP:0002589HP:0002032Esophageal atresia1AR CL E G H367644ORPHA:95706Non-syndromic posterior hypospadiasHP:0040283 - Occasional125
HP:0002589HP:0002032Esophageal atresia1ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0002589HP:0011100Intestinal atresia1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0002589HP:0011100Intestinal atresia1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0002589HP:0011100Intestinal atresia1BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0002589HP:0011100Intestinal atresia1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0002589HP:0011100Intestinal atresia1CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0002589HP:0011100Intestinal atresia1CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0002589HP:0011100Intestinal atresia1CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0002589HP:0011100Intestinal atresia1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0002589HP:0011100Intestinal atresia1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0002589HP:0011100Intestinal atresia1CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0002589HP:0011100Intestinal atresia1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0002589HP:0002032Esophageal atresia1CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0002589HP:0011100Intestinal atresia1CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040283 - Occasional4
HP:0002589HP:0011100Intestinal atresia1CLMP CL E G H7982724039OMIM:615237Congenital short bowel syndrome7
HP:0002589HP:0011100Intestinal atresia1COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0002589HP:0011100Intestinal atresia1DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0002589HP:0011100Intestinal atresia1DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0002589HP:0011100Intestinal atresia1DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0002589HP:0002032Esophageal atresia1DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional304
HP:0002589HP:0002032Esophageal atresia1DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional
HP:0002589HP:0002032Esophageal atresia1DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional
HP:0002589HP:0011100Intestinal atresia1DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0002589HP:0002032Esophageal atresia1EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida typeHP:0040283 - Occasional48
HP:0002589HP:0002032Esophageal atresia1ERCC4 CL E G H20723436OMIM:615272Fanconi anemia, complementation group Q.158
HP:0002589HP:0011100Intestinal atresia1FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0002589HP:0002032Esophageal atresia1FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0002589HP:0002032Esophageal atresia1FANCB CL E G H21873583OMIM:314390VACTERL association, X-linked58
HP:0002589HP:0002032Esophageal atresia1FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040281 - Very frequent58
HP:0002589HP:0002032Esophageal atresia1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0002589HP:0011100Intestinal atresia1FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0002589HP:0002032Esophageal atresia1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group LHP:0040283 - Occasional53
HP:0002589HP:0011100Intestinal atresia1FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactyly655
HP:0002589HP:0011100Intestinal atresia1FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0002589HP:0011100Intestinal atresia1FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0002589HP:0002032Esophageal atresia1FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional172
HP:0002589HP:0002032Esophageal atresia1FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040283 - Occasional175
HP:0002589HP:0002032Esophageal atresia1FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0002589HP:0011100Intestinal atresia1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0002589HP:0002032Esophageal atresia1FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0002589HP:0011100Intestinal atresia1FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0002589HP:0011100Intestinal atresia1FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0002589HP:0011100Intestinal atresia1GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0002589HP:0011100Intestinal atresia1GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0002589HP:0011100Intestinal atresia1GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0002589HP:0011100Intestinal atresia1HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0002589HP:0002032Esophageal atresia1HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional21
HP:0002589HP:0002032Esophageal atresia1IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional65
HP:0002589HP:0011100Intestinal atresia1ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040281 - Very frequent79
HP:0002589HP:0002032Esophageal atresia1ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.124
HP:0002589HP:0011100Intestinal atresia1ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040281 - Very frequent124
HP:0002589HP:0011100Intestinal atresia1KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0002589HP:0002032Esophageal atresia1MAMLD1 CL E G H100462568ORPHA:95706Non-syndromic posterior hypospadiasHP:0040283 - Occasional5
HP:0002589HP:0011100Intestinal atresia1MIR17HG CL E G H40797523564ORPHA:391646Feingold syndrome type 21
HP:0002589HP:0011100Intestinal atresia1MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0002589HP:0002032Esophageal atresia1MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0002589HP:0002032Esophageal atresia1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040282 - Frequent35
HP:0002589HP:0011100Intestinal atresia1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0002589HP:0011100Intestinal atresia1MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0002589HP:0011100Intestinal atresia1NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0002589HP:0011100Intestinal atresia1NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0002589HP:0011100Intestinal atresia1NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0002589HP:0002032Esophageal atresia1OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional41
HP:0002589HP:0002032Esophageal atresia1PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040284 - Very rare641
HP:0002589HP:0002032Esophageal atresia1PAICS CL E G H106068587OMIM:619859
HP:0002589HP:0011100Intestinal atresia1PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040281 - Very frequent11
HP:0002589HP:0011100Intestinal atresia1PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002589HP:0011100Intestinal atresia1PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0002589HP:0002032Esophageal atresia1PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia.759
HP:0002589HP:0002032Esophageal atresia1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0002589HP:0011100Intestinal atresia1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0002589HP:0011100Intestinal atresia1PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002589HP:0002032Esophageal atresia1PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional34
HP:0002589HP:0011100Intestinal atresia1PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0002589HP:0011100Intestinal atresia1RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0002589HP:0011100Intestinal atresia1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0002589HP:0011100Intestinal atresia1RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0002589HP:0011100Intestinal atresia1RFX6 CL E G H22254621478OMIM:615710Mitchell-Riley syndrome28
HP:0002589HP:0002032Esophageal atresia1RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0002589HP:0011100Intestinal atresia1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0002589HP:0011100Intestinal atresia1SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0002589HP:0011100Intestinal atresia1SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0002589HP:0011100Intestinal atresia1SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0002589HP:0011100Intestinal atresia1SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0002589HP:0002032Esophageal atresia1SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0002589HP:0011100Intestinal atresia1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0002589HP:0002032Esophageal atresia1SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0002589HP:0011100Intestinal atresia1SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002589HP:0002032Esophageal atresia1SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040281 - Very frequent33
HP:0002589HP:0002032Esophageal atresia1SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0002589HP:0002032Esophageal atresia1SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional33
HP:0002589HP:0002032Esophageal atresia1SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional24
HP:0002589HP:0011100Intestinal atresia1SPINK5 CL E G H1100515464OMIM:256500Netherton syndromeHP:0040284 - Very rare100
HP:0002589HP:0011100Intestinal atresia1STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0002589HP:0011100Intestinal atresia1SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0002589HP:0011100Intestinal atresia1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0002589HP:0011100Intestinal atresia1TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0002589HP:0011100Intestinal atresia1TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0002589HP:0011100Intestinal atresia1TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0002589HP:0011100Intestinal atresia1TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040281 - Very frequent26
HP:0002589HP:0011100Intestinal atresia1TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome.26
HP:0002589HP:0002032Esophageal atresia1WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002589HP:0011100Intestinal atresia1WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002589HP:0002032Esophageal atresia1WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040283 - Occasional136
HP:0002589HP:0002032Esophageal atresia1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0002589HP:0011100Intestinal atresia1ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0002589HP:0011100Intestinal atresia1ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0002589HP:0002032Esophageal atresia1ZIC3 CL E G H754712874OMIM:314390VACTERL association, X-linked39
HP:0002589HP:0011100Intestinal atresia1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0002589HP:0004403Proximal esophageal atresia2 CL E G H
HP:0002589HP:0004797Multiple small bowel atresias2 CL E G H
HP:0002589HP:0005235Jejunal atresia2AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1
HP:0002589HP:0002247Duodenal atresia2BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0002589HP:0002247Duodenal atresia2BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0002589HP:0002247Duodenal atresia2BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0002589HP:0002247Duodenal atresia2BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0002589HP:0002247Duodenal atresia2CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0002589HP:0002247Duodenal atresia2CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0002589HP:0002247Duodenal atresia2CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0002589HP:0005235Jejunal atresia2CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0002589HP:0002247Duodenal atresia2CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0002589HP:0002247Duodenal atresia2CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0002589HP:0002247Duodenal atresia2CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0002589HP:0002247Duodenal atresia2CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0002589HP:0010448Colonic atresia2COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0002589HP:0011102Ileal atresia2DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0002589HP:0002247Duodenal atresia2DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0002589HP:0002247Duodenal atresia2DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0002589HP:0002247Duodenal atresia2DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040284 - Very rare134
HP:0002589HP:0002247Duodenal atresia2FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0002589HP:0002247Duodenal atresia2FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0002589HP:0002247Duodenal atresia2FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactylyHP:0040283 - Occasional655
HP:0002589HP:0002247Duodenal atresia2FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0002589HP:0002247Duodenal atresia2FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0002589HP:0002247Duodenal atresia2FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0002589HP:0002247Duodenal atresia2FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0002589HP:0002247Duodenal atresia2FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0002589HP:0002247Duodenal atresia2GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0002589HP:0002247Duodenal atresia2GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0002589HP:0011102Ileal atresia2GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0002589HP:0010448Colonic atresia2HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0002589HP:0002247Duodenal atresia2KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0002589HP:0005235Jejunal atresia2MIR17HG CL E G H40797523564ORPHA:391646Feingold syndrome type 2HP:0040282 - Frequent1
HP:0002589HP:0005235Jejunal atresia2MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0002589HP:0002247Duodenal atresia2MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0002589HP:0002247Duodenal atresia2MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040283 - Occasional35
HP:0002589HP:0005235Jejunal atresia2MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040284 - Very rare35
HP:0002589HP:0011102Ileal atresia2MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0002589HP:0010448Colonic atresia2NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0002589HP:0002247Duodenal atresia2NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0002589HP:0002247Duodenal atresia2NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0002589HP:0002247Duodenal atresia2PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040283 - Occasional37
HP:0002589HP:0002247Duodenal atresia2PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040283 - Occasional20
HP:0002589HP:0011102Ileal atresia2PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002589HP:0005235Jejunal atresia2PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002589HP:0002247Duodenal atresia2PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0002589HP:0025023Rectal atresia2RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O.391
HP:0002589HP:0002247Duodenal atresia2RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0002589HP:0002247Duodenal atresia2RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0002589HP:0005235Jejunal atresia2RFX6 CL E G H22254621478OMIM:615710Mitchell-Riley syndrome.28
HP:0002589HP:0002247Duodenal atresia2RFX6 CL E G H22254621478OMIM:615710Mitchell-Riley syndrome.28
HP:0002589HP:0002247Duodenal atresia2RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0002589HP:0002247Duodenal atresia2SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0002589HP:0002247Duodenal atresia2SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0002589HP:0002247Duodenal atresia2SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0002589HP:0005235Jejunal atresia2SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0002589HP:0002247Duodenal atresia2STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0002589HP:0002247Duodenal atresia2SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0002589HP:0025023Rectal atresia2TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040283 - Occasional31
HP:0002589HP:0002247Duodenal atresia2TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0002589HP:0002247Duodenal atresia2TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0002589HP:0002247Duodenal atresia2TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0002589HP:0011102Ileal atresia2TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0002589HP:0010448Colonic atresia2TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0002589HP:0005235Jejunal atresia2TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0002589HP:0002247Duodenal atresia2TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0002589HP:0025023Rectal atresia2TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0002589HP:0002247Duodenal atresia2WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0002589HP:0002247Duodenal atresia2ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0002589HP:0002247Duodenal atresia2ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0002589HP:0005235Jejunal atresia2ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0002589HP:0200116Distal ileal atresia3DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164


Genes (91) :AP1S1 AR ARNT2 BUB1 BUB1B BUB3 CAMK2A CDON CENPF CEP57 CFAP45 CHD7 CHRM3 CLMP COX7B DIS3L2 DISP1 DLL1 DYNC2H1 DYNC2I1 DYNC2I2 DYRK1A EFTUD2 ERCC4 FANCB FANCD2 FANCF FANCL FBN2 FGF8 FGFR1 FGFR2 FLI1 FOXF1 FOXH1 GAS1 GLI2 GMPPB HCCS HESX1 IFT80 ITGA6 ITGB4 KDM3B MAMLD1 MIR17HG MYCN MYH11 NDUFB11 NODAL OTX2 PAH PAICS PI4KA PIGN PLEC POLA1 PORCN PPP1R12A PROKR2 PTCH1 RAD51C RERE RFWD3 RFX6 RMRP RTTN SALL1 SHH SIN3A SIX3 SIX6 SLC25A12 SMARCD1 SON SOX2 SOX3 SPINK5 STAG2 SUFU TCTN3 TDGF1 TGIF1 TRIP13 TTC7A WBP11 WDR35 YY1 ZIC2 ZIC3 ZNF699

Diseases (69) :OMIM:609313 ORPHA:95706 ORPHA:3157 ORPHA:1052 OMIM:257300 OMIM:617798 ORPHA:280200 OMIM:243605 OMIM:614114 OMIM:619608 OMIM:214800 ORPHA:2970 OMIM:615237 OMIM:309801 OMIM:267000 ORPHA:93271 ORPHA:464311 OMIM:610536 OMIM:615272 OMIM:300514 OMIM:314390 ORPHA:3412 OMIM:227646 OMIM:603467 OMIM:614083 ORPHA:115 ORPHA:87 OMIM:101200 ORPHA:2308 OMIM:265380 OMIM:615351 ORPHA:79403 OMIM:226730 OMIM:618846 ORPHA:391646 OMIM:164280 ORPHA:391641 OMIM:619351 OMIM:270100 ORPHA:2209 OMIM:619859 ORPHA:436252 OMIM:619708 ORPHA:2059 OMIM:301030 ORPHA:2092 OMIM:618820 OMIM:613390 OMIM:616975 OMIM:617784 OMIM:615710 OMIM:250250 ORPHA:468631 OMIM:107480 ORPHA:94065 OMIM:206900 OMIM:612949 OMIM:618779 OMIM:617140 ORPHA:77298 OMIM:256500 OMIM:301043 ORPHA:2753 OMIM:243150 ORPHA:2300 OMIM:619227 ORPHA:506358 OMIM:306955 OMIM:619488
 

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