Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Feeding difficulties (HP:0011968)

Parent Node:
Feeding difficulties in infancy (HP:0008872)

..Starting node
..Nasogastric tube feeding in infancy (HP:0011470)

Term ID:

11470

Name:

Nasogastric tube feeding in infancy

Synonym:

Definition:

Feeding problem necessitating nasogastric tube feeding.

Comments:

Reference:

HP:0011470

Genes and Diseases:

Child Nodes:

Sister Nodes:

Gastrojejunal tube feeding in infancy (HP:0030884)

Gastrostomy tube feeding in infancy (HP:0011471)

Nasal regurgitation (HP:0011469)

Poor suck (HP:0002033)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	96
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional	6
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional	284
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	127
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	2
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	131
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	48
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040282 - Frequent	5
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent	34
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	144
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040283 - Occasional	18
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	54
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional	108
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional	101
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0011470	HP:0011470	Nasogastric tube feeding in infancy	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional	23

Genes (36) :ACTA1 BRAF CLTCL1 COL2A1 COX8A CREBBP CTCF DYRK1A EDEM3 EP300 GALC GFM2 GPT2 GRM7 HACD1 HNRNPK IDH1 ITGA7 KANSL1 MAP3K20 MYL2 NALCN PDE10A PIGT PSAP PUF60 SATB2 SELENON SNRPN TFG TP63 TPM2 TPM3 TRMU TRNE UNC80

Diseases (28) :ORPHA:2020 OMIM:613706 ORPHA:453510 ORPHA:93316 OMIM:619059 ORPHA:353277 ORPHA:363611 ORPHA:268261 OMIM:619493 ORPHA:353284 ORPHA:206436 ORPHA:565624 ORPHA:477673 OMIM:618922 ORPHA:352665 ORPHA:453504 ORPHA:99646 ORPHA:363958 ORPHA:363965 ORPHA:371364 ORPHA:494526 ORPHA:369837 ORPHA:508488 ORPHA:251028 ORPHA:177907 ORPHA:90117 OMIM:106260 ORPHA:254864

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen