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:
Mental deterioration (HP:0001268)

Parent Node:
Progressive neurologic deterioration (HP:0002344)

..Starting node
..Rapid neurologic deterioration (HP:0007307)

Term ID:

7307

Name:

Rapid neurologic deterioration

Synonym:

Definition:

Comments:

Reference:

HP:0007307

Genes and Diseases:

Child Nodes:

Sister Nodes:

Progressive language deterioration (HP:0007064)

Progressive psychomotor deterioration (HP:0007272)

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:0007307	HP:0007307	Rapid neurologic deterioration	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0007307	HP:0007307	Rapid neurologic deterioration	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent	80

Genes (1) :SUMF1

Diseases (2) :OMIM:272200 ORPHA:585

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.