Human Phenotype Ontology 
Grandparent Node:
expand
Morphological abnormality of the gastrointestinal tract (HP:0012718)help
Parent Node:
expand
Abnormal intestine morphology (HP:0002242)help
Parent Node:
expand
Gastrointestinal atresia (HP:0002589)help
..Starting node
..expand
Intestinal atresia (HP:0011100)help
Term ID: 11100
Name: Intestinal atresia
Synonym:
Definition: An abnormal closure, or atresia of the tubular structure of the intestine.
Comments:
Reference: HP:0011100
Genes and Diseases:
 
       Child Nodes:
........expandDuodenal atresia (HP:0002247) help
........expandMultiple small bowel atresias (HP:0004797) help
........expandJejunal atresia (HP:0005235) help
........expandColonic atresia (HP:0010448) help
........expandIleal atresia (HP:0011102) help
................... HP:0200116 Distal ileal atresia
........expandRectal atresia (HP:0025023) help

 Sister Nodes: 
..expandEsophageal atresia (HP:0002032) 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:0011100HP:0011100Intestinal atresia0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1
HP:0011100HP:0011100Intestinal atresia0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0011100HP:0011100Intestinal atresia0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0011100HP:0011100Intestinal atresia0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0011100HP:0011100Intestinal atresia0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0011100HP:0011100Intestinal atresia0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0011100HP:0011100Intestinal atresia0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0011100HP:0011100Intestinal atresia0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0011100HP:0011100Intestinal atresia0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0011100HP:0011100Intestinal atresia0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0011100HP:0011100Intestinal atresia0CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0011100HP:0011100Intestinal atresia0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0011100HP:0011100Intestinal atresia0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040283 - Occasional4
HP:0011100HP:0011100Intestinal atresia0CLMP CL E G H7982724039OMIM:615237Congenital short bowel syndrome7
HP:0011100HP:0011100Intestinal atresia0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0011100HP:0011100Intestinal atresia0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0011100HP:0011100Intestinal atresia0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0011100HP:0011100Intestinal atresia0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0011100HP:0011100Intestinal atresia0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0011100HP:0011100Intestinal atresia0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0011100HP:0011100Intestinal atresia0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0011100HP:0011100Intestinal atresia0FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactyly655
HP:0011100HP:0011100Intestinal atresia0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0011100HP:0011100Intestinal atresia0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0011100HP:0011100Intestinal atresia0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0011100HP:0011100Intestinal atresia0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0011100HP:0011100Intestinal atresia0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0011100HP:0011100Intestinal atresia0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0011100HP:0011100Intestinal atresia0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0011100HP:0011100Intestinal atresia0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0011100HP:0011100Intestinal atresia0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0011100HP:0011100Intestinal atresia0ITGA6 CL E G H36556142ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040281 - Very frequent79
HP:0011100HP:0011100Intestinal atresia0ITGB4 CL E G H36916158ORPHA:79403Junctional epidermolysis bullosa with pyloric atresiaHP:0040281 - Very frequent124
HP:0011100HP:0011100Intestinal atresia0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0011100HP:0011100Intestinal atresia0MIR17HG CL E G H40797523564ORPHA:391646Feingold syndrome type 21
HP:0011100HP:0011100Intestinal atresia0MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0011100HP:0011100Intestinal atresia0MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 135
HP:0011100HP:0011100Intestinal atresia0MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0011100HP:0011100Intestinal atresia0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0011100HP:0011100Intestinal atresia0NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0011100HP:0011100Intestinal atresia0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0011100HP:0011100Intestinal atresia0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040281 - Very frequent11
HP:0011100HP:0011100Intestinal atresia0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0011100HP:0011100Intestinal atresia0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0011100HP:0011100Intestinal atresia0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0011100HP:0011100Intestinal atresia0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0011100HP:0011100Intestinal atresia0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0011100HP:0011100Intestinal atresia0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O391
HP:0011100HP:0011100Intestinal atresia0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0011100HP:0011100Intestinal atresia0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0011100HP:0011100Intestinal atresia0RFX6 CL E G H22254621478OMIM:615710Mitchell-Riley syndrome28
HP:0011100HP:0011100Intestinal atresia0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0011100HP:0011100Intestinal atresia0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0011100HP:0011100Intestinal atresia0SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0011100HP:0011100Intestinal atresia0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0011100HP:0011100Intestinal atresia0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0011100HP:0011100Intestinal atresia0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0011100HP:0011100Intestinal atresia0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0011100HP:0011100Intestinal atresia0SPINK5 CL E G H1100515464OMIM:256500Netherton syndromeHP:0040284 - Very rare100
HP:0011100HP:0011100Intestinal atresia0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0011100HP:0011100Intestinal atresia0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0011100HP:0011100Intestinal atresia0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0011100HP:0011100Intestinal atresia0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0011100HP:0011100Intestinal atresia0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0011100HP:0011100Intestinal atresia0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0011100HP:0011100Intestinal atresia0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040281 - Very frequent26
HP:0011100HP:0011100Intestinal atresia0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome.26
HP:0011100HP:0011100Intestinal atresia0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011100HP:0011100Intestinal atresia0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0011100HP:0011100Intestinal atresia0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0011100HP:0011100Intestinal atresia0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0011100HP:0004797Multiple small bowel atresias1 CL E G H
HP:0011100HP:0005235Jejunal atresia1AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1
HP:0011100HP:0002247Duodenal atresia1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0011100HP:0002247Duodenal atresia1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0011100HP:0002247Duodenal atresia1BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0011100HP:0002247Duodenal atresia1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0011100HP:0002247Duodenal atresia1CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0011100HP:0002247Duodenal atresia1CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0011100HP:0005235Jejunal atresia1CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0011100HP:0002247Duodenal atresia1CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0011100HP:0002247Duodenal atresia1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0011100HP:0002247Duodenal atresia1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0011100HP:0002247Duodenal atresia1CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0011100HP:0002247Duodenal atresia1CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0011100HP:0010448Colonic atresia1COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0011100HP:0011102Ileal atresia1DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0011100HP:0002247Duodenal atresia1DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0011100HP:0002247Duodenal atresia1DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0011100HP:0002247Duodenal atresia1DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040284 - Very rare134
HP:0011100HP:0002247Duodenal atresia1FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0011100HP:0002247Duodenal atresia1FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0011100HP:0002247Duodenal atresia1FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactylyHP:0040283 - Occasional655
HP:0011100HP:0002247Duodenal atresia1FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0011100HP:0002247Duodenal atresia1FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0011100HP:0002247Duodenal atresia1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0011100HP:0002247Duodenal atresia1FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0011100HP:0002247Duodenal atresia1FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0011100HP:0002247Duodenal atresia1GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0011100HP:0002247Duodenal atresia1GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0011100HP:0011102Ileal atresia1GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0011100HP:0010448Colonic atresia1HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0011100HP:0002247Duodenal atresia1KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0011100HP:0005235Jejunal atresia1MIR17HG CL E G H40797523564ORPHA:391646Feingold syndrome type 2HP:0040282 - Frequent1
HP:0011100HP:0005235Jejunal atresia1MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0011100HP:0002247Duodenal atresia1MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0011100HP:0002247Duodenal atresia1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040283 - Occasional35
HP:0011100HP:0005235Jejunal atresia1MYCN CL E G H46137559ORPHA:391641Feingold syndrome type 1HP:0040284 - Very rare35
HP:0011100HP:0011102Ileal atresia1MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0011100HP:0010448Colonic atresia1NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0011100HP:0002247Duodenal atresia1NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0011100HP:0002247Duodenal atresia1NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0011100HP:0002247Duodenal atresia1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040283 - Occasional37
HP:0011100HP:0002247Duodenal atresia1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040283 - Occasional20
HP:0011100HP:0011102Ileal atresia1PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0011100HP:0005235Jejunal atresia1PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0011100HP:0002247Duodenal atresia1PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0011100HP:0025023Rectal atresia1RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O.391
HP:0011100HP:0002247Duodenal atresia1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0011100HP:0002247Duodenal atresia1RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0011100HP:0002247Duodenal atresia1RFX6 CL E G H22254621478OMIM:615710Mitchell-Riley syndrome.28
HP:0011100HP:0005235Jejunal atresia1RFX6 CL E G H22254621478OMIM:615710Mitchell-Riley syndrome.28
HP:0011100HP:0002247Duodenal atresia1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0011100HP:0002247Duodenal atresia1SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0011100HP:0002247Duodenal atresia1SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0011100HP:0002247Duodenal atresia1SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0011100HP:0005235Jejunal atresia1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0011100HP:0002247Duodenal atresia1STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0011100HP:0002247Duodenal atresia1SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0011100HP:0025023Rectal atresia1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040283 - Occasional31
HP:0011100HP:0002247Duodenal atresia1TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0011100HP:0002247Duodenal atresia1TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0011100HP:0002247Duodenal atresia1TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional2
HP:0011100HP:0011102Ileal atresia1TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0011100HP:0010448Colonic atresia1TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0011100HP:0005235Jejunal atresia1TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0011100HP:0025023Rectal atresia1TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0011100HP:0002247Duodenal atresia1TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0011100HP:0002247Duodenal atresia1WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0011100HP:0002247Duodenal atresia1ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0011100HP:0002247Duodenal atresia1ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0011100HP:0005235Jejunal atresia1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0011100HP:0200116Distal ileal atresia2DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164


Genes (65) :AP1S1 BUB1 BUB1B BUB3 CAMK2A CDON CENPF CEP57 CFAP45 CHD7 CHRM3 CLMP COX7B DIS3L2 DISP1 DLL1 DYRK1A FANCB FANCF FBN2 FGF8 FGFR1 FLI1 FOXF1 FOXH1 GAS1 GLI2 GMPPB HCCS ITGA6 ITGB4 KDM3B MIR17HG MYCN MYH11 NDUFB11 NODAL PI4KA PIGN PORCN PPP1R12A PTCH1 RAD51C RERE RFWD3 RFX6 RTTN SALL1 SHH SIN3A SIX3 SLC25A12 SON SPINK5 STAG2 SUFU TCTN3 TDGF1 TGIF1 TRIP13 TTC7A WBP11 ZIC2 ZIC3 ZNF699

Diseases (48) :OMIM:609313 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:464311 OMIM:300514 OMIM:603467 ORPHA:115 ORPHA:2308 OMIM:265380 OMIM:615351 ORPHA:79403 OMIM:618846 ORPHA:391646 OMIM:164280 ORPHA:391641 OMIM:619351 OMIM:270100 ORPHA:436252 OMIM:619708 ORPHA:2059 ORPHA:2092 OMIM:618820 OMIM:613390 OMIM:616975 OMIM:617784 OMIM:615710 ORPHA:468631 OMIM:107480 ORPHA:94065 OMIM:612949 OMIM:617140 OMIM:256500 OMIM:301043 ORPHA:2753 OMIM:243150 OMIM:619227 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.