Human Phenotype Ontology 
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Grandparent Node:
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Respiratory tract infection (HP:0011947)help
Parent Node:
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Pneumonia (HP:0002090)help
..Starting node
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Aspiration pneumonia (HP:0011951)help
Term ID: 11951
Name: Aspiration pneumonia
Synonym:
Definition: Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.
Comments:
Reference: HP:0011951
Genes and Diseases:
 
       Child Nodes:
........expandRecurrent aspiration pneumonia (HP:0002100) help
........expandAcute aspiration pneumonia (HP:0011952) help

 Sister Nodes: 
..expandRecurrent pneumonia (HP:0006532) 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:0011951HP:0011951Aspiration pneumonia0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0011951HP:0011951Aspiration pneumonia0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome.6
HP:0011951HP:0011951Aspiration pneumonia0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040282 - Frequent6
HP:0011951HP:0011951Aspiration pneumonia0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0011951HP:0011951Aspiration pneumonia0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0011951HP:0011951Aspiration pneumonia0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0011951HP:0011951Aspiration pneumonia0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndrome78
HP:0011951HP:0011951Aspiration pneumonia0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0011951HP:0011951Aspiration pneumonia0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0011951HP:0011951Aspiration pneumonia0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0011951HP:0011951Aspiration pneumonia0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0011951HP:0011951Aspiration pneumonia0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0011951HP:0011951Aspiration pneumonia0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0011951HP:0011951Aspiration pneumonia0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional678
HP:0011951HP:0011951Aspiration pneumonia0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional18
HP:0011951HP:0011951Aspiration pneumonia0CRLF1 CL E G H92442364ORPHA:930Idiopathic achalasia24
HP:0011951HP:0011951Aspiration pneumonia0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0011951HP:0011951Aspiration pneumonia0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0011951HP:0011951Aspiration pneumonia0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0011951HP:0011951Aspiration pneumonia0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0011951HP:0011951Aspiration pneumonia0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0011951HP:0011951Aspiration pneumonia0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0011951HP:0011951Aspiration pneumonia0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0011951HP:0011951Aspiration pneumonia0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0011951HP:0011951Aspiration pneumonia0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0011951HP:0011951Aspiration pneumonia0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0011951HP:0011951Aspiration pneumonia0EPM2A CL E G H79573413ORPHA:501Lafora disease83
HP:0011951HP:0011951Aspiration pneumonia0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0011951HP:0011951Aspiration pneumonia0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0011951HP:0011951Aspiration pneumonia0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0011951HP:0011951Aspiration pneumonia0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0011951HP:0011951Aspiration pneumonia0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0011951HP:0011951Aspiration pneumonia0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0011951HP:0011951Aspiration pneumonia0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0011951HP:0011951Aspiration pneumonia0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0011951HP:0011951Aspiration pneumonia0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0011951HP:0011951Aspiration pneumonia0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0011951HP:0011951Aspiration pneumonia0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0011951HP:0011951Aspiration pneumonia0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0011951HP:0011951Aspiration pneumonia0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0011951HP:0011951Aspiration pneumonia0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0011951HP:0011951Aspiration pneumonia0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0011951HP:0011951Aspiration pneumonia0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II
HP:0011951HP:0011951Aspiration pneumonia0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0011951HP:0011951Aspiration pneumonia0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040282 - Frequent120
HP:0011951HP:0011951Aspiration pneumonia0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0011951HP:0011951Aspiration pneumonia0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0011951HP:0011951Aspiration pneumonia0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0011951HP:0011951Aspiration pneumonia0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0011951HP:0011951Aspiration pneumonia0GRHL3 CL E G H5782225839ORPHA:99772Cleft velumHP:0040283 - Occasional12
HP:0011951HP:0011951Aspiration pneumonia0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0011951HP:0011951Aspiration pneumonia0HLA-DQA1 CL E G H31174942ORPHA:930Idiopathic achalasia
HP:0011951HP:0011951Aspiration pneumonia0HLA-DQB1 CL E G H31194944ORPHA:930Idiopathic achalasia
HP:0011951HP:0011951Aspiration pneumonia0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0011951HP:0011951Aspiration pneumonia0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0011951HP:0011951Aspiration pneumonia0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0011951HP:0011951Aspiration pneumonia0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0011951HP:0011951Aspiration pneumonia0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0011951HP:0011951Aspiration pneumonia0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0011951HP:0011951Aspiration pneumonia0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0011951HP:0011951Aspiration pneumonia0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0011951HP:0011951Aspiration pneumonia0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency8
HP:0011951HP:0011951Aspiration pneumonia0LRIF1 CL E G H5579130299OMIM:619477FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0011951HP:0011951Aspiration pneumonia0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0011951HP:0011951Aspiration pneumonia0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndrome57
HP:0011951HP:0011951Aspiration pneumonia0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0011951HP:0011951Aspiration pneumonia0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0011951HP:0011951Aspiration pneumonia0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0011951HP:0011951Aspiration pneumonia0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0011951HP:0011951Aspiration pneumonia0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0011951HP:0011951Aspiration pneumonia0NHLRC1 CL E G H37888421576ORPHA:501Lafora disease77
HP:0011951HP:0011951Aspiration pneumonia0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0011951HP:0011951Aspiration pneumonia0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0011951HP:0011951Aspiration pneumonia0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0011951HP:0011951Aspiration pneumonia0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0011951HP:0011951Aspiration pneumonia0NOS1 CL E G H48427872ORPHA:930Idiopathic achalasia2
HP:0011951HP:0011951Aspiration pneumonia0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0011951HP:0011951Aspiration pneumonia0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0011951HP:0011951Aspiration pneumonia0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040283 - Occasional231
HP:0011951HP:0011951Aspiration pneumonia0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0011951HP:0011951Aspiration pneumonia0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency88
HP:0011951HP:0011951Aspiration pneumonia0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0011951HP:0011951Aspiration pneumonia0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0011951HP:0011951Aspiration pneumonia0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0011951HP:0011951Aspiration pneumonia0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0011951HP:0011951Aspiration pneumonia0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0011951HP:0011951Aspiration pneumonia0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0011951HP:0011951Aspiration pneumonia0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0011951HP:0011951Aspiration pneumonia0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0011951HP:0011951Aspiration pneumonia0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0011951HP:0011951Aspiration pneumonia0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0011951HP:0011951Aspiration pneumonia0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0011951HP:0011951Aspiration pneumonia0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040283 - Occasional53
HP:0011951HP:0011951Aspiration pneumonia0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0011951HP:0011951Aspiration pneumonia0SDHD CL E G H639210683OMIM:619167MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3129
HP:0011951HP:0011951Aspiration pneumonia0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0011951HP:0011951Aspiration pneumonia0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0011951HP:0011951Aspiration pneumonia0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0011951HP:0011951Aspiration pneumonia0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0011951HP:0011951Aspiration pneumonia0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0011951HP:0011951Aspiration pneumonia0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0011951HP:0011951Aspiration pneumonia0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0011951HP:0011951Aspiration pneumonia0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0011951HP:0011951Aspiration pneumonia0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0011951HP:0011951Aspiration pneumonia0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0011951HP:0011951Aspiration pneumonia0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0011951HP:0011951Aspiration pneumonia0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0011951HP:0011951Aspiration pneumonia0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0011951HP:0011951Aspiration pneumonia0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0011951HP:0011951Aspiration pneumonia0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0011951HP:0011951Aspiration pneumonia0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0011951HP:0011951Aspiration pneumonia0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0011951HP:0011951Aspiration pneumonia0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0011951HP:0011951Aspiration pneumonia0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0011951HP:0011951Aspiration pneumonia0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0011951HP:0011951Aspiration pneumonia0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0011951HP:0011951Aspiration pneumonia0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0011951HP:0011951Aspiration pneumonia0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0011951HP:0011951Aspiration pneumonia0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0011951HP:0011951Aspiration pneumonia0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0011951HP:0011951Aspiration pneumonia0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0011951HP:0011951Aspiration pneumonia0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040283 - Occasional21
HP:0011951HP:0011951Aspiration pneumonia0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0011951HP:0011951Aspiration pneumonia0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0011951HP:0011951Aspiration pneumonia0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0011951HP:0011951Aspiration pneumonia0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0011951HP:0011951Aspiration pneumonia0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0011951HP:0011951Aspiration pneumonia0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040283 - Occasional18
HP:0011951HP:0011951Aspiration pneumonia0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0011951HP:0011951Aspiration pneumonia0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0011951HP:0011951Aspiration pneumonia0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0011951HP:0011951Aspiration pneumonia0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0011951HP:0011951Aspiration pneumonia0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040283 - Occasional15
HP:0011951HP:0011951Aspiration pneumonia0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0011951HP:0011951Aspiration pneumonia0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0011951HP:0011951Aspiration pneumonia0UBB CL E G H731412463ORPHA:99772Cleft velumHP:0040283 - Occasional
HP:0011951HP:0011951Aspiration pneumonia0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0011951HP:0011951Aspiration pneumonia0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0011951HP:0011951Aspiration pneumonia0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0011951HP:0011951Aspiration pneumonia0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0011951HP:0011952Acute aspiration pneumonia1 CL E G H
HP:0011951HP:0002100Recurrent aspiration pneumonia1ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040282 - Frequent78
HP:0011951HP:0002100Recurrent aspiration pneumonia1ATP6V0A1 CL E G H535865OMIM:6199711
HP:0011951HP:0002100Recurrent aspiration pneumonia1CRLF1 CL E G H92442364ORPHA:930Idiopathic achalasiaHP:0040283 - Occasional24
HP:0011951HP:0002100Recurrent aspiration pneumonia1CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0011951HP:0002100Recurrent aspiration pneumonia1EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040282 - Frequent83
HP:0011951HP:0002100Recurrent aspiration pneumonia1GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0011951HP:0002100Recurrent aspiration pneumonia1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0011951HP:0002100Recurrent aspiration pneumonia1HLA-DQA1 CL E G H31174942ORPHA:930Idiopathic achalasiaHP:0040283 - Occasional
HP:0011951HP:0002100Recurrent aspiration pneumonia1HLA-DQB1 CL E G H31194944ORPHA:930Idiopathic achalasiaHP:0040283 - Occasional
HP:0011951HP:0002100Recurrent aspiration pneumonia1IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0011951HP:0002100Recurrent aspiration pneumonia1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0011951HP:0002100Recurrent aspiration pneumonia1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0011951HP:0002100Recurrent aspiration pneumonia1KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0011951HP:0002100Recurrent aspiration pneumonia1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0011951HP:0002100Recurrent aspiration pneumonia1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0011951HP:0002100Recurrent aspiration pneumonia1LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0011951HP:0002100Recurrent aspiration pneumonia1MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0011951HP:0002100Recurrent aspiration pneumonia1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0011951HP:0002100Recurrent aspiration pneumonia1NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040282 - Frequent77
HP:0011951HP:0002100Recurrent aspiration pneumonia1NOS1 CL E G H48427872ORPHA:930Idiopathic achalasiaHP:0040283 - Occasional2
HP:0011951HP:0002100Recurrent aspiration pneumonia1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0011951HP:0002100Recurrent aspiration pneumonia1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0011951HP:0002100Recurrent aspiration pneumonia1PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0011951HP:0002100Recurrent aspiration pneumonia1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0011951HP:0002100Recurrent aspiration pneumonia1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0011951HP:0002100Recurrent aspiration pneumonia1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome.
HP:0011951HP:0002100Recurrent aspiration pneumonia1SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040283 - Occasional49


Genes (92) :ACTA1 AFF4 ARID1A ARID1B ARID2 ASAH1 ATP6V0A1 ATP6V1B2 CDON COL4A5 COL4A6 CRLF1 CSPP1 DISP1 DLL1 DPF2 EPM2A FGF8 FGFR1 FIG4 FOXH1 GAS1 GBA1 GIPC1 GLB1 GLI2 GRHL3 HACD1 HLA-DQA1 HLA-DQB1 IGBP1 ITGA7 KAT6A KDM6A KIAA0586 KMT2D KNSTRN LMNB1 LONP1 LRIF1 MAP3K20 MID1 MYL2 MYO1H NADK2 NDUFA6 NFIX NHLRC1 NODAL NOS1 NOTCH2NLC NTRK1 PAFAH1B1 PANK2 PDHA1 PIGA PIGN PIK3CD PLA2G6 PLCH1 PMM2 PTCD3 PTCH1 PURA SAMD9 SDHD SELENON SHH SIX3 SLC25A24 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SNAP29 SOX11 SOX4 SP110 STAG2 STIL TAF1 TBC1D24 TDGF1 TFG TGIF1 TIMM8A TPM2 TPM3 UBB ZIC2

Diseases (49) :ORPHA:2020 OMIM:616368 ORPHA:444077 ORPHA:1465 ORPHA:2590 OMIM:619971 ORPHA:79500 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:1018 ORPHA:930 ORPHA:397715 ORPHA:501 OMIM:216340 OMIM:230900 ORPHA:98897 ORPHA:79255 ORPHA:99772 OMIM:300472 OMIM:616268 OMIM:147920 ORPHA:221139 ORPHA:99027 ORPHA:79243 OMIM:619477 ORPHA:2745 OMIM:619482 ORPHA:431361 OMIM:618253 OMIM:602535 ORPHA:642 ORPHA:95232 ORPHA:216866 OMIM:301072 ORPHA:280633 ORPHA:35069 ORPHA:79318 OMIM:619057 ORPHA:314655 OMIM:617053 OMIM:619167 OMIM:612289 OMIM:609528 ORPHA:79124 ORPHA:53351 ORPHA:90117 ORPHA:52368
 

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