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:
Abnormal sacrum morphology (HP:0005107)

Grandparent Node:
Aplasia/Hypoplasia involving the vertebral column (HP:0008518)

Parent Node:
Aplasia/Hypoplasia of the sacrum (HP:0008517)

..Starting node
..Hypoplastic sacrum (HP:0004590)

Term ID:

4590

Name:

Hypoplastic sacrum

Synonym:

Small sacrum

Definition:

Comments:

Reference:

HP:0004590

Genes and Diseases:

Child Nodes:

........

Hypoplastic sacral vertebrae (HP:0008475)

Sister Nodes:

Absence of the sacrum (HP:0010305)

Absent/hypoplastic coccyx (HP:0008436)

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:0004590	HP:0004590	Hypoplastic sacrum	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0004590	HP:0004590	Hypoplastic sacrum	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0004590	HP:0004590	Hypoplastic sacrum	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0004590	HP:0004590	Hypoplastic sacrum	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0004590	HP:0004590	Hypoplastic sacrum	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0004590	HP:0004590	Hypoplastic sacrum	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0004590	HP:0004590	Hypoplastic sacrum	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0004590	HP:0008475	Hypoplastic sacral vertebrae	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42

Genes (6) :FANCL POC1A ROR2 RPS19 TP63 TRIP11

Diseases (7) :OMIM:614083 OMIM:614813 OMIM:113000 OMIM:268310 OMIM:105650 OMIM:604292 OMIM:200600

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