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

..Starting node
..Delayed ability to crawl (HP:0033128)

Term ID:

33128

Name:

Delayed ability to crawl

Synonym:

Definition:

A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.

Comments:

Reference:

HP:0033128

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033128	HP:0033128	Delayed ability to crawl	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0033128	HP:0033128	Delayed ability to crawl	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	88
HP:0033128	HP:0033128	Delayed ability to crawl	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	13
HP:0033128	HP:0033128	Delayed ability to crawl	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	4
HP:0033128	HP:0033128	Delayed ability to crawl	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0033128	HP:0033128	Delayed ability to crawl	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42	20
HP:0033128	HP:0033128	Delayed ability to crawl	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0033128	HP:0033128	Delayed ability to crawl	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	12

Genes (8) :CELF2 CTNNB1 HIVEP2 MDH2 MRPS25 PGAP1 RBL2 SON

Diseases (8) :OMIM:619561 OMIM:615075 OMIM:616977 OMIM:617339 OMIM:619025 OMIM:615802 OMIM:619690 OMIM:617140

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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