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)

Grandparent Node:
Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122)

Parent Node:
Abnormal sacrum morphology (HP:0005107)

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

..Starting node
..Aplasia/Hypoplasia of the sacrum (HP:0008517)

Term ID:

8517

Name:

Aplasia/Hypoplasia of the sacrum

Synonym:

Absent/small sacrum; Absent/underdeveloped sacrum

Definition:

Aplasia or developmental hypoplasia of the sacral bone.

Comments:

Reference:

HP:0008517

Genes and Diseases:

Child Nodes:

........

Hypoplastic sacrum (HP:0004590)

................... HP:0008475 Hypoplastic sacral vertebrae

........

Absent/hypoplastic coccyx (HP:0008436)

........

Absence of the sacrum (HP:0010305)

Sister Nodes:

Aplasia/Hypoplasia of the cervical spine (HP:0011041)

Aplasia/Hypoplasia of the vertebrae (HP:0008515)

Hypoplasia of the odontoid process (HP:0003311)

Hypoplastic spinal processes (HP:0008460)

Relatively short spine (HP:0002766)

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:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus		58
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent	3
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome	HP:0040281 - Very frequent	17
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome		58
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	TBXT CL E G H	6862	11515	OMIM:615709	Sacral agenesis with vertebral anomalies
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent	111
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele		111
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent	13
HP:0008517	HP:0008517	Aplasia/Hypoplasia of the sacrum	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0008517	HP:0010305	Absence of the sacrum	1	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0008517	HP:0010305	Absence of the sacrum	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional	58
HP:0008517	HP:0004590	Hypoplastic sacrum	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0008517	HP:0008436	Absent/hypoplastic coccyx	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0008517	HP:0010305	Absence of the sacrum	1	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0008517	HP:0010305	Absence of the sacrum	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.	2
HP:0008517	HP:0010305	Absence of the sacrum	1	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome		17
HP:0008517	HP:0010305	Absence of the sacrum	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0008517	HP:0004590	Hypoplastic sacrum	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0008517	HP:0010305	Absence of the sacrum	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0008517	HP:0004590	Hypoplastic sacrum	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1		120
HP:0008517	HP:0004590	Hypoplastic sacrum	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0008517	HP:0004590	Hypoplastic sacrum	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1		42
HP:0008517	HP:0010305	Absence of the sacrum	1	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0008517	HP:0010305	Absence of the sacrum	1	TBXT CL E G H	6862	11515	OMIM:615709	Sacral agenesis with vertebral anomalies	.
HP:0008517	HP:0004590	Hypoplastic sacrum	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0008517	HP:0004590	Hypoplastic sacrum	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0008517	HP:0010305	Absence of the sacrum	1	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0008517	HP:0010305	Absence of the sacrum	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele	.	111
HP:0008517	HP:0010305	Absence of the sacrum	1	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0008517	HP:0010305	Absence of the sacrum	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.	39
HP:0008517	HP:0008475	Hypoplastic sacral vertebrae	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42

Genes (19) :CCL2 FANCB FANCL FUCA1 FUZ HAAO MNX1 NODAL POC1A PTH1R ROR2 RPS19 TBXT TP63 TRIP11 VANGL1 VANGL2 WNT7A ZIC3

Diseases (20) :OMIM:182940 ORPHA:3412 OMIM:614083 OMIM:230000 ORPHA:3027 OMIM:617660 ORPHA:1552 OMIM:176450 OMIM:270100 OMIM:614813 ORPHA:79106 OMIM:113000 OMIM:268310 OMIM:105650 OMIM:615709 OMIM:604292 OMIM:200600 OMIM:600145 ORPHA:2879 OMIM:306955

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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