Human Phenotype Ontology 
Grandparent Node:
expand
Phenotypic abnormality (HP:0000118)help
Parent Node:
expand
Abnormality of the abdominal wall (HP:0004298)help
Parent Node:
expand
Abnormality of the musculature (HP:0003011)help
..Starting node
..expand
Abnormal morphology of the abdominal musculature (HP:0010991)help
Term ID: 10991
Name: Abnormal morphology of the abdominal musculature
Synonym: Abnormality of the abdominal musculature
Definition: An abnormality of the abdominal musculature.
Comments:
Reference: HP:0010991
Genes and Diseases:
 
       Child Nodes:
........expandDiastasis recti (HP:0001540) help
........expandAbdominal wall muscle weakness (HP:0009023) help
................... HP:0030664 Beevor's sign
........expandAplasia/Hypoplasia of the abdominal wall musculature (HP:0010318) help
................... HP:0005199 Aplasia of the abdominal wall musculature
................... HP:0005243 Partial abdominal muscle agenesis
................... HP:0005247 Hypoplasia of the abdominal wall musculature

 Sister Nodes: 
..expandAbnormal axial muscle morphology (HP:0040286) help
..expandAbnormal hyoglossus muscle morphology (HP:3000051) help
..expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help
..expandAbnormal mitochondria in muscle tissue (HP:0008316) help
..expandAbnormal morphology of musculature of pharynx (HP:0430015) help
..expandAbnormal morphology of the chest musculature (HP:0410167) help
..expandAbnormal morphology of the musculature of the neck (HP:0011006) help
..expandAbnormal morphology of the pelvis musculature (HP:0001469) help
..expandAbnormal morphology of the shoulder musculature (HP:0410169) help
..expandAbnormal muscle physiology (HP:0011804) help
..expandAbnormal skeletal muscle morphology (HP:0011805) help
..expandAbnormality of facial musculature (HP:0000301) help
..expandAbnormality of musculature of soft palate (HP:0430014) help
..expandAbnormality of occipitofrontalis muscle (HP:0040172) help
..expandAbnormality of the back musculature (HP:0410168) help
..expandAbnormality of the diaphragm (HP:0000775) help
..expandAbnormality of the extraocular muscles (HP:0008049) help
..expandAbnormality of the musculature of the limbs (HP:0009127) help
..expandAbnormality of the musculature of the thorax (HP:0009131) help
..expandAbnormality of the tongue muscle (HP:0040173) help
..expandCalcification of muscles (HP:0100249) help
..expandGastroparesis (HP:0002578) help
..expandIncreased intramuscular fat (HP:0008985) help
..expandMuscle abnormality related to mitochondrial dysfunction (HP:0003800) help
..expandMuscle hemorrhage (HP:0040242) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandobsolete Abnormality of skeletal muscles (HP:0040290) 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:0010991HP:0010991Abnormal morphology of the abdominal musculature0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathy23
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndrome4
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome4
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndrome68
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0COLEC10 CL E G H105842220ORPHA:2938433MC syndrome3
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0COLEC11 CL E G H7898917213ORPHA:2938433MC syndrome9
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 29
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation1
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0ELMO2 CL E G H6391617233OMIM:606893Vascular malformation, primary intraosseous3
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0EZH2 CL E G H21463527OMIM:277590Weaver syndrome81
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndrome1361
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0FLNB CL E G H23173755ORPHA:1263Boomerang dysplasia233
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p154
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p159
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome730
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome1
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0MANBA CL E G H41266831ORPHA:118Beta-mannosidosis55
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0MASP1 CL E G H56486901ORPHA:2938433MC syndrome21
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IV78
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation1
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0MRAS CL E G H228087227ORPHA:648Noonan syndrome
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome68
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome68
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndrome166
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0NRAS CL E G H48937989ORPHA:648Noonan syndrome102
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0PTPN11 CL E G H57819644ORPHA:648Noonan syndrome291
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0RAF1 CL E G H58949829ORPHA:648Noonan syndrome212
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0RASA2 CL E G H59229872ORPHA:648Noonan syndrome3
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0RIT1 CL E G H601610023ORPHA:648Noonan syndrome39
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasia37
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0RRAS CL E G H623710447ORPHA:648Noonan syndrome
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0RRAS2 CL E G H2280017271ORPHA:648Noonan syndrome1
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiency2
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndrome150
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0SOS1 CL E G H665411187ORPHA:648Noonan syndrome315
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0SOS2 CL E G H665511188ORPHA:648Noonan syndrome30
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0SPRED2 CL E G H20073417722ORPHA:648Noonan syndrome
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0010991HP:0010991Abnormal morphology of the abdominal musculature0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndrome14
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040282 - Frequent23
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040281 - Very frequent192
HP:0010991HP:0001540Diastasis recti1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional276
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent85
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040283 - Occasional83
HP:0010991HP:0001540Diastasis recti1CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0010991HP:0001540Diastasis recti1CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1CHRM3 CL E G H11311952ORPHA:2970Prune belly syndrome4
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome4
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent68
HP:0010991HP:0001540Diastasis recti1CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0010991HP:0001540Diastasis recti1COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040282 - Frequent3
HP:0010991HP:0001540Diastasis recti1COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0010991HP:0001540Diastasis recti1COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040282 - Frequent9
HP:0010991HP:0001540Diastasis recti1COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 29
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome164
HP:0010991HP:0001540Diastasis recti1DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent1
HP:0010991HP:0001540Diastasis recti1DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040282 - Frequent1
HP:0010991HP:0001540Diastasis recti1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0010991HP:0001540Diastasis recti1ELMO2 CL E G H6391617233OMIM:606893Vascular malformation, primary intraosseous.3
HP:0010991HP:0001540Diastasis recti1EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional1361
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1FLNB CL E G H23173755ORPHA:1263Boomerang dysplasiaHP:0040282 - Frequent233
HP:0010991HP:0001540Diastasis recti1FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0010991HP:0001540Diastasis recti1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0010991HP:0001540Diastasis recti1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040283 - Occasional240
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0010991HP:0001540Diastasis recti1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0010991HP:0001540Diastasis recti1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0010991HP:0001540Diastasis recti1H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional4
HP:0010991HP:0001540Diastasis recti1H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0010991HP:0001540Diastasis recti1IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0010991HP:0001540Diastasis recti1IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional9
HP:0010991HP:0001540Diastasis recti1KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0010991HP:0001540Diastasis recti1KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1MANBA CL E G H41266831ORPHA:118Beta-mannosidosis55
HP:0010991HP:0001540Diastasis recti1MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040282 - Frequent21
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040281 - Very frequent78
HP:0010991HP:0001540Diastasis recti1MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent1
HP:0010991HP:0001540Diastasis recti1MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040282 - Frequent1
HP:0010991HP:0001540Diastasis recti1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0010991HP:0001540Diastasis recti1MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0010991HP:0001540Diastasis recti1MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent166
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0010991HP:0001540Diastasis recti1PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0010991HP:0001540Diastasis recti1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0010991HP:0001540Diastasis recti1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0010991HP:0001540Diastasis recti1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional291
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040283 - Occasional212
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040283 - Occasional37
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0010991HP:0001540Diastasis recti1RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent
HP:0010991HP:0001540Diastasis recti1RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040282 - Frequent
HP:0010991HP:0001540Diastasis recti1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0010991HP:0001540Diastasis recti1SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiencyHP:0040282 - Frequent2
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional150
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0010991HP:0001540Diastasis recti1SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0010991HP:0001540Diastasis recti1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0010991HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature1XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent14
HP:0010991HP:0005199Aplasia of the abdominal wall musculature2CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040281 - Very frequent4
HP:0010991HP:0005199Aplasia of the abdominal wall musculature2CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome.4
HP:0010991HP:0005243Partial abdominal muscle agenesis2COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0010991HP:0005247Hypoplasia of the abdominal wall musculature2DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0010991HP:0005247Hypoplasia of the abdominal wall musculature2MANBA CL E G H41266831ORPHA:118Beta-mannosidosisHP:0040281 - Very frequent55
HP:0010991HP:0005247Hypoplasia of the abdominal wall musculature2SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome


Genes (61) :ACTG2 ATP7A B3GLCT BRAF CANT1 CBL CD96 CDKN1C CHAMP1 CHRM3 CHRNG CHST14 COL3A1 COLEC10 COLEC11 CSGALNACT1 DIS3L2 DLK1 ELMO2 EZH2 FBN1 FLNB FOXF1 GNPTAB GPC3 GPC4 H19 H19-ICR IGF2 KCNQ1 KCNQ1OT1 KRAS LZTR1 MANBA MASP1 MCOLN1 MEG3 MRAS MTOR MYH3 NRAS PIGQ PORCN PPP2R3C PTPN11 RAF1 RASA2 RIT1 RMRP RRAS RRAS2 RTL1 SHPK SKI SLC25A24 SOS1 SOS2 SOX6 SPRED2 TBCK XYLT1

Diseases (44) :ORPHA:2604 ORPHA:565 OMIM:261540 ORPHA:500 ORPHA:1425 ORPHA:648 ORPHA:1308 OMIM:130650 OMIM:616579 ORPHA:2970 OMIM:100100 ORPHA:2990 OMIM:601776 ORPHA:286 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:267000 ORPHA:254534 ORPHA:254528 ORPHA:96334 OMIM:606893 OMIM:277590 ORPHA:2462 ORPHA:1263 OMIM:265380 OMIM:252500 ORPHA:576 ORPHA:373 OMIM:312870 ORPHA:231140 ORPHA:118 ORPHA:578 ORPHA:457485 OMIM:616638 OMIM:618548 ORPHA:2092 OMIM:305600 OMIM:618419 ORPHA:175 ORPHA:440713 OMIM:612289 OMIM:618971 ORPHA:488632
 

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