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:
Abnormality of the vertebral column (HP:0000925)

Parent Node:
Abnormal sacrum morphology (HP:0005107)

..Starting node
..Abnormal ossification of the sacrum (HP:0025370)

Term ID:

25370

Name:

Abnormal ossification of the sacrum

Synonym:

Definition:

Abnormal bone tissue formation (ossification) affecting the sacrum.

Comments:

Reference:

HP:0025370

Genes and Diseases:

Child Nodes:

........

Delayed ossification of the sacrum (HP:0025371)

........

Unossified sacrum (HP:0030290)

Sister Nodes:

Abnormal sacroiliac joint morphology (HP:0100781)

Aplasia/Hypoplasia of the sacrum (HP:0008517)

Dysplastic sacrum (HP:0008455)

Horizontal sacrum (HP:0003440)

Sacral meningocele (HP:0005765)

Sacral segmentation defect (HP:0008490)

Sacrococcygeal pilonidal abnormality (HP:0010767)

Sacrococcygeal teratoma (HP:0030736)

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:0025370	HP:0025370	Abnormal ossification of the sacrum	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0025370	HP:0025370	Abnormal ossification of the sacrum	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0025370	HP:0025371	Delayed ossification of the sacrum	1	CL E G H
HP:0025370	HP:0030290	Unossified sacrum	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0025370	HP:0030290	Unossified sacrum	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284

Genes (2) :BMPER COL2A1

Diseases (2) :OMIM:608022 ORPHA:93296

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