Human Phenotype Ontology

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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:
Abnormality of body weight (HP:0004323)

Parent Node:
Increased body weight (HP:0004324)

..Starting node
..Large for gestational age (HP:0001520)

Term ID:

1520

Name:

Large for gestational age

Synonym:

Birth weight > 90th percentile; Birthweight > 90th percentile; Fetal macrosomia; Foetal macrosomia; Macrosomia; Macrosomia, neonatal

Definition:

The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.

Comments:

Reference:

HP:0001520

Genes and Diseases:

Child Nodes:

Sister Nodes:

Obesity (HP:0001513)

Overweight (HP:0025502)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001520	HP:0001520	Large for gestational age	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent		245
HP:0001520	HP:0001520	Large for gestational age	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.		245
HP:0001520	HP:0001520	Large for gestational age	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional		245
HP:0001520	HP:0001520	Large for gestational age	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0001520	HP:0001520	Large for gestational age	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0001520	HP:0001520	Large for gestational age	0	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.		12
HP:0001520	HP:0001520	Large for gestational age	0	ANK3 CL E G H	288	494	ORPHA:356996	ANK3-related intellectual disability-sleep disturbance syndrome	HP:0040283 - Occasional		176
HP:0001520	HP:0001520	Large for gestational age	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional		2
HP:0001520	HP:0001520	Large for gestational age	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		99
HP:0001520	HP:0001520	Large for gestational age	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional		75
HP:0001520	HP:0001520	Large for gestational age	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001520	HP:0001520	Large for gestational age	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional		25
HP:0001520	HP:0001520	Large for gestational age	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0001520	HP:0001520	Large for gestational age	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent		1
HP:0001520	HP:0001520	Large for gestational age	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001520	HP:0001520	Large for gestational age	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		167
HP:0001520	HP:0001520	Large for gestational age	0	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome	.		55
HP:0001520	HP:0001520	Large for gestational age	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0001520	HP:0001520	Large for gestational age	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0001520	HP:0001520	Large for gestational age	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.		2
HP:0001520	HP:0001520	Large for gestational age	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional		237
HP:0001520	HP:0001520	Large for gestational age	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0001520	HP:0001520	Large for gestational age	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0001520	HP:0001520	Large for gestational age	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0001520	HP:0001520	Large for gestational age	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040282 - Frequent		161
HP:0001520	HP:0001520	Large for gestational age	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional		161
HP:0001520	HP:0001520	Large for gestational age	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.	HP:0003623 - Neonatal onset	138
HP:0001520	HP:0001520	Large for gestational age	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0001520	HP:0001520	Large for gestational age	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional		138
HP:0001520	HP:0001520	Large for gestational age	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0001520	HP:0001520	Large for gestational age	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional		62
HP:0001520	HP:0001520	Large for gestational age	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent		127
HP:0001520	HP:0001520	Large for gestational age	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0001520	HP:0001520	Large for gestational age	0	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2	.		127
HP:0001520	HP:0001520	Large for gestational age	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional		127
HP:0001520	HP:0001520	Large for gestational age	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional		78
HP:0001520	HP:0001520	Large for gestational age	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0001520	HP:0001520	Large for gestational age	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent		1
HP:0001520	HP:0001520	Large for gestational age	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001520	HP:0001520	Large for gestational age	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		7
HP:0001520	HP:0001520	Large for gestational age	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040282 - Frequent		68
HP:0001520	HP:0001520	Large for gestational age	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0001520	HP:0001520	Large for gestational age	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		19
HP:0001520	HP:0001520	Large for gestational age	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46			27
HP:0001520	HP:0001520	Large for gestational age	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional		32
HP:0001520	HP:0001520	Large for gestational age	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001520	HP:0001520	Large for gestational age	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent		1
HP:0001520	HP:0001520	Large for gestational age	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional		55
HP:0001520	HP:0001520	Large for gestational age	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional		30
HP:0001520	HP:0001520	Large for gestational age	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0001520	HP:0001520	Large for gestational age	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0001520	HP:0001520	Large for gestational age	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0001520	HP:0001520	Large for gestational age	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0001520	HP:0001520	Large for gestational age	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0001520	HP:0001520	Large for gestational age	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001520	HP:0001520	Large for gestational age	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001520	HP:0001520	Large for gestational age	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent		11
HP:0001520	HP:0001520	Large for gestational age	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent
HP:0001520	HP:0001520	Large for gestational age	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001520	HP:0001520	Large for gestational age	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0001520	HP:0001520	Large for gestational age	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001520	HP:0001520	Large for gestational age	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001520	HP:0001520	Large for gestational age	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.		124
HP:0001520	HP:0001520	Large for gestational age	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0001520	HP:0001520	Large for gestational age	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040282 - Frequent		15

Genes (49) :ABCC8 ABCC9 AKT2 ANK3 APPL1 BIN1 BLK BRAF CEL DIS3L2 DLK1 DNM2 EDNRB EHMT1 FIBP GCK GLI3 HERC1 HNF1A HNF4A IFT74 INS KCNJ11 KLF11 KMT2C MEG3 MTMR14 MTOR MYF6 NDST1 NEUROD1 ODC1 PAX4 PDX1 PIGA PIGL PIGN PIGT PTCH1 RAF1 RIT1 RNF135 RTL1 RYR1 SHOC2 SOS1 SUFU TMCO1 UCP2

Diseases (44) :ORPHA:276575 OMIM:256450 ORPHA:552 OMIM:239850 ORPHA:293964 OMIM:240900 ORPHA:356996 ORPHA:169189 OMIM:613706 OMIM:267000 ORPHA:254534 ORPHA:96334 OMIM:600501 ORPHA:261652 ORPHA:500095 OMIM:617107 ORPHA:672 OMIM:617011 ORPHA:457359 ORPHA:324575 OMIM:616026 ORPHA:263455 OMIM:617119 ORPHA:276580 ORPHA:79644 OMIM:601820 ORPHA:457485 OMIM:616638 OMIM:616116 OMIM:619075 ORPHA:544488 OMIM:300868 OMIM:280000 OMIM:614080 OMIM:615398 ORPHA:77301 OMIM:611553 OMIM:615355 ORPHA:137634 OMIM:607721 OMIM:610733 OMIM:617757 OMIM:213980 ORPHA:276556

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

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