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:
Postnatal growth retardation (HP:0008897)

..Starting node
..Severe postnatal growth retardation (HP:0008850)

Term ID:

8850

Name:

Severe postnatal growth retardation

Synonym:

Marked growth retardation; Severe growth delay in children; Severe postnatal growth deficiency; Severe postnatal growth failure

Definition:

Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.

Comments:

Reference:

HP:0008850

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mild postnatal growth retardation (HP:0001530)

Moderate postnatal growth retardation (HP:0008855)

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:0008850	HP:0008850	Severe postnatal growth retardation	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040281 - Very frequent	314
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	8
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040281 - Very frequent	2
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040284 - Very rare	83
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	37
HP:0008850	HP:0008850	Severe postnatal 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:0008850	HP:0008850	Severe postnatal growth retardation	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	65
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4	.	43
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	494
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	3
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	25
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040280 - Obligate	10
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	135
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent	91
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.	9
HP:0008850	HP:0008850	Severe postnatal growth retardation	0	WFS1 CL E G H	7466	12762	ORPHA:411590	Wolfram-like syndrome	HP:0040283 - Occasional	389

Genes (39) :ANKRD55 BLM BRD4 CD247 CPLX1 CTBP1 EBP EMG1 ERCC8 FGFRL1 GATA3 GNPTAB HDAC8 IGF1 IL2RA IL2RB INSR LETM1 LHX4 NIN NIPBL NSD2 POU1F1 PPP1R15B PRIM1 PTPN2 PTPN22 RAD21 RNU4ATAC RPL10 RYR1 SHPK SMC1A SMC3 STAT4 TBC1D20 TRMT10A TSHB WFS1

Diseases (23) :ORPHA:85410 ORPHA:125 ORPHA:199 OMIM:194190 ORPHA:35173 ORPHA:1270 OMIM:216400 ORPHA:2237 OMIM:252500 ORPHA:73272 ORPHA:769 OMIM:262700 ORPHA:319675 OMIM:613038 ORPHA:391408 OMIM:620005 OMIM:210710 ORPHA:435938 ORPHA:98905 ORPHA:440713 OMIM:615663 OMIM:275100 ORPHA:411590

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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