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
..Temporal bossing (HP:0032569)

Term ID:

32569

Name:

Temporal bossing

Synonym:

Definition:

Comments:

Reference:

HP:0032569

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032569	HP:0032569	Temporal bossing	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0032569	HP:0032569	Temporal bossing	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0032569	HP:0032569	Temporal bossing	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76

Genes (3) :CEP57 FGFR3 POR

Diseases (3) :OMIM:614114 OMIM:602849 OMIM:201750

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