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:
Neurodevelopmental delay (HP:0012758)

Parent Node:
Global developmental delay (HP:0001263)

..Starting node
..Moderate global developmental delay (HP:0011343)

Term ID:

11343

Name:

Moderate global developmental delay

Synonym:

Global developmental delay, moderate; Psychomotor retardation, moderate

Definition:

A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.

Comments:

Reference:

HP:0011343

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mild global developmental delay (HP:0011342)

Profound global developmental delay (HP:0012736)

Severe global developmental delay (HP:0011344)

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:0011343	HP:0011343	Moderate global developmental delay	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040282 - Frequent	47
HP:0011343	HP:0011343	Moderate global developmental delay	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent	60
HP:0011343	HP:0011343	Moderate global developmental delay	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0011343	HP:0011343	Moderate global developmental delay	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:0011343	HP:0011343	Moderate global developmental delay	0	HAL CL E G H	3034	4806	ORPHA:2157	Histidinemia	HP:0040284 - Very rare	73
HP:0011343	HP:0011343	Moderate global developmental delay	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent	19
HP:0011343	HP:0011343	Moderate global developmental delay	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0011343	HP:0011343	Moderate global developmental delay	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0011343	HP:0011343	Moderate global developmental delay	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0011343	HP:0011343	Moderate global developmental delay	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:0011343	HP:0011343	Moderate global developmental delay	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome		1952
HP:0011343	HP:0011343	Moderate global developmental delay	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040282 - Frequent	15
HP:0011343	HP:0011343	Moderate global developmental delay	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0011343	HP:0011343	Moderate global developmental delay	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0011343	HP:0011343	Moderate global developmental delay	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0011343	HP:0011343	Moderate global developmental delay	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:0011343	HP:0011343	Moderate global developmental delay	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	304
HP:0011343	HP:0011343	Moderate global developmental delay	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	16
HP:0011343	HP:0011343	Moderate global developmental delay	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	237
HP:0011343	HP:0011343	Moderate global developmental delay	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	129
HP:0011343	HP:0011343	Moderate global developmental delay	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0011343	HP:0011343	Moderate global developmental delay	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent	12
HP:0011343	HP:0011343	Moderate global developmental delay	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040281 - Very frequent	55
HP:0011343	HP:0011343	Moderate global developmental delay	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0011343	HP:0011343	Moderate global developmental delay	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040281 - Very frequent	63
HP:0011343	HP:0011343	Moderate global developmental delay	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent

Genes (26) :ADNP AIFM1 CDKL5 DLK1 HAL HSD17B10 IRX5 KDM5B MADD MEG3 NF1 PGM3 PHGDH PLP1 PSMC3 RTL1 SDHA SDHAF1 SDHB SDHD SOX9 TANGO2 TBX4 TET2 TMEM70 TPP2

Diseases (21) :ORPHA:404448 ORPHA:238329 ORPHA:505652 ORPHA:96334 ORPHA:2157 ORPHA:391428 OMIM:611174 OMIM:618109 OMIM:619005 OMIM:193520 ORPHA:443811 ORPHA:79351 ORPHA:280229 OMIM:619354 ORPHA:3208 OMIM:114290 ORPHA:480864 ORPHA:261279 OMIM:619126 ORPHA:1194 ORPHA:444463

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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