Human Phenotype Ontology 
Grandparent Node:
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Feeding difficulties (HP:0011968)help
Parent Node:
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Feeding difficulties in infancy (HP:0008872)help
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Gastrostomy tube feeding in infancy (HP:0011471)help
Term ID: 11471
Name: Gastrostomy tube feeding in infancy
Synonym: PEG-fed in infancy
Definition: Feeding problem necessitating gastrostomy tube feeding.
Comments:
Reference: HP:0011471
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGastrojejunal tube feeding in infancy (HP:0030884) help
..expandNasal regurgitation (HP:0011469) help
..expandNasogastric tube feeding in infancy (HP:0011470) help
..expandPoor suck (HP:0002033) 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:0011471HP:0011471Gastrostomy tube feeding in infancy0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040282 - Frequent6
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040284 - Very rare48
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional200
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional200
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional200
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional200
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040283 - Occasional111
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040283 - Occasional284
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040283 - Occasional263
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040283 - Occasional54
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent27
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional22
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional22
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional22
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional22
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional3
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional3
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional3
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional3
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent114
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional17
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional17
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional17
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional17
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional172
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional48
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional48
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional48
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional48
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional2
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional2
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional2
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional2
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional173
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional173
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional173
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional173
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040284 - Very rare240
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040282 - Frequent3
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional45
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional45
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional45
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional45
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0NRCAM CL E G H48977994OMIM:6198332
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040283 - Occasional54
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040283 - Occasional60
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional665
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional665
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional665
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional665
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional66
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional67
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional67
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional67
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional67
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional32
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional135
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040284 - Very rare19
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional99
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional99
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional99
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional99
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional1
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional1
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional32
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040282 - Frequent2
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040282 - Frequent4
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional3
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional84
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional57
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional102
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional34
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional34
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional34
HP:0011471HP:0011471Gastrostomy tube feeding in infancy0ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional34


Genes (100) :ADNP AFF4 ALG12 ALS2 ASPA BLM BRAF C2CD3 CDON CLCN6 CLN8 COG5 COL2A1 COL7A1 COQ2 DALRD3 DCHS1 DEGS1 DISP1 DLK1 DLL1 DNM1L DPM1 FAT4 FDFT1 FGF8 FGFR1 FOXH1 FUS GAS1 GLI2 GNPTAB ITCH KLHL40 KRT14 KRT5 LONP1 LRPPRC MEG3 MGAT2 MTRFR MYO1H NODAL NRCAM PDHA1 PDSS2 PGAP1 PGAP2 PGAP3 PIGL PIGO PIGU PIGV PIGW PIGY PLCH1 PNPT1 PPP2R1A PRPS1 PSAT1 PTCH1 PTPN23 RALGAPA1 RNF13 RTL1 SCN1A SCN3A SEPSECS SETBP1 SHH SIGMAR1 SIX3 SLC1A4 SLC5A6 SMC1A SON SPATA5 SPG11 SPOP SPTBN4 SPTLC1 STAG2 STIL SYNE1 TBCK TDGF1 TGIF1 TOR1A TRAPPC12 TRIO TRIP4 TSEN15 TSEN2 TSEN34 TSEN54 UBTF UGDH WDR26 YY1 ZIC2

Diseases (67) :ORPHA:404448 ORPHA:444077 ORPHA:79324 ORPHA:300605 ORPHA:314911 ORPHA:125 OMIM:115150 ORPHA:434179 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:280195 OMIM:619173 ORPHA:1947 ORPHA:263487 ORPHA:93316 ORPHA:89842 ORPHA:255249 OMIM:618910 ORPHA:314679 OMIM:618404 ORPHA:96334 ORPHA:330050 ORPHA:79322 OMIM:618156 ORPHA:576 OMIM:613385 ORPHA:228426 OMIM:615348 ORPHA:79396 ORPHA:79243 ORPHA:70472 ORPHA:79329 ORPHA:254930 OMIM:619482 OMIM:619833 OMIM:615802 ORPHA:247262 OMIM:618590 ORPHA:319514 ORPHA:457284 ORPHA:423479 ORPHA:284417 OMIM:618890 OMIM:618797 ORPHA:544503 OMIM:619317 OMIM:617938 ORPHA:2524 ORPHA:798 ORPHA:447997 OMIM:618973 ORPHA:500150 ORPHA:457351 OMIM:618828 OMIM:617519 ORPHA:319332 OMIM:616900 OMIM:618947 ORPHA:500144 ORPHA:476126 ORPHA:486815 ORPHA:500180 OMIM:618792 ORPHA:513456 ORPHA:506358
 

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