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:
Neurodevelopmental abnormality (HP:0012759)

Parent Node:
Abnormal social behavior (HP:0012433)

Parent Node:
Neurodevelopmental delay (HP:0012758)

..Starting node
..Delayed social development (HP:0012434)

Term ID:

12434

Name:

Delayed social development

Synonym:

Delayed social development

Definition:

A failure to meet one or more age-related milestones of social behavior.

Comments:

Reference:

HP:0012434

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed speech and language development (HP:0000750)

Global developmental delay (HP:0001263)

Motor delay (HP:0001270)

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:0012434	HP:0012434	Delayed social development	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3		245
HP:0012434	HP:0012434	Delayed social development	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0012434	HP:0012434	Delayed social development	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0012434	HP:0012434	Delayed social development	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0012434	HP:0012434	Delayed social development	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040283 - Occasional	143
HP:0012434	HP:0012434	Delayed social development	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040282 - Frequent	177
HP:0012434	HP:0012434	Delayed social development	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	70
HP:0012434	HP:0012434	Delayed social development	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	62
HP:0012434	HP:0012434	Delayed social development	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0012434	HP:0012434	Delayed social development	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	129
HP:0012434	HP:0012434	Delayed social development	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0012434	HP:0012434	Delayed social development	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	48
HP:0012434	HP:0012434	Delayed social development	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0012434	HP:0012434	Delayed social development	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0012434	HP:0012434	Delayed social development	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS

Genes (15) :ABCC8 APC2 CDC40 COG6 FOXP2 ITPR1 LCA5 LRAT PPIL1 RPE65 SNX14 SPATA7 TMTC3 TUBB3 WLS

Diseases (12) :OMIM:618857 OMIM:618677 OMIM:619302 ORPHA:363523 ORPHA:209908 ORPHA:208513 ORPHA:364055 OMIM:619301 OMIM:616354 OMIM:617255 ORPHA:300570 OMIM:619648

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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