Human Phenotype Ontology

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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:
Growth delay (HP:0001510)

Parent Node:
Intrauterine growth retardation (HP:0001511)

..Starting node
..Severe intrauterine growth retardation (HP:0008846)

Term ID:

8846

Name:

Severe intrauterine growth retardation

Synonym:

Intrauterine growth retardation, severe; Severe prenatal growth deficiency

Definition:

Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.

Comments:

Reference:

HP:0008846

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mild intrauterine growth retardation (HP:0008883)

Moderate intrauterine growth retardation (HP:0011408)

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:0008846	HP:0008846	Severe intrauterine growth retardation	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040282 - Frequent	2
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	4
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent	91
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	9
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent	229
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0008846	HP:0008846	Severe intrauterine growth retardation	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52

Genes (12) :CEP57 EMG1 ESCO2 GRB10 H19 IGF1 IGF2 INSR NIN POLR3A PTF1A TBCE

Diseases (13) :OMIM:614114 ORPHA:1270 ORPHA:3103 OMIM:268300 ORPHA:96182 ORPHA:231144 ORPHA:73272 ORPHA:508 ORPHA:319675 ORPHA:3455 OMIM:609069 OMIM:241410 ORPHA:2323

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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